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Journal of Pediatric Endocrinology and Metabolism

Official Journal of the German Society for Pediatric and Adolescent Endocrinology and Diabetology (DGPAED)

Editor-in-Chief: Clemens Kamrath

Language: English

First published: January 1, 1985

Publication Frequency: 12 issues per year

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Objective
The Journal of Pediatric Endocrinology and Metabolism (JPEM) is a peer-reviewed journal that publishes cutting-edge articles on clinical investigations in pediatric endocrinology, diabetes, inherited metabolic disorders, metabolism and translational research. JPEM is an international journal devoted exclusively to endocrinology in the neonatal, pediatric and adolescent age groups. JPEM is a high-quality journal dedicated to pediatric endocrinology, diabetes and metabolic diseases in its broadest sense, including research on epidemiology, pathophysiology, multidisciplinary management and technology, filling a gap at a time of rapid expansion in the field.
JPEM is a hybrid journal published monthly in print and online. All contributions submitted for publication in JPEM are subject to single-anonymized peer review by at least two experts in the field, selected and invited by the Editor-in-Chief and a dedicated Editorial Team. JPEM publishes only English-language articles.
JPEM is the official journal of the German Society for Pediatric and Adolescent Endocrinology and Diabetology (DGPAED).

BEST PAPER AWARD
From 2025, the DGPAED and the publisher will jointly award a Best Paper Award for the best paper by a DGPAED member published in the Journal of Pediatric Endocrinology and Metabolism. The prize is endowed with 1000 euros and will be awarded at the 2nd JA-PED. The selection will be made by Prof. Clemens Kamrath, JPEM Editor-in-Chief, Prof. Annette Richter-Unruh and Dr. Sebastian Kummer, JPEM Asociate Editors. Submission deadline is October 1, 2025.
We look forward to receiving your submissions´at https://mc.manuscriptcentral.com/jpem

Topics
Pediatric Endocrinology // Pediatric Diabetes // Pediatric Obesity // Inherited Metabolic Diseases // Neonates/Neonatal Screening // Hormonal Disorders and Therapy // Adrenal Disorders // Pituitary Disorders // Thyroid Disorders // Disorders of Bone, Calcium and Vitamin D Metabolism // Growth Disorders // Endocrine Cancers // Disorders of Gonads and Puberty // Disorders of Sex Differentiation, Gender Dysphoria // Psychosocial Aspects of Chronic Conditions in Pediatric Endocrinology and Diabetology // Multidisciplinary Care for Children and Their Families

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Original Article, Review Article, Mini Review, Opinion Paper, Perspectives, Editorial, Case Report, Case Report and Review of the Literature, Short Communication, Letter to the Editor and Reply, Guidelines and Recommendations, Congress Abstracts

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The association between hydration status and body composition in healthy children and adolescents

April 4, 2023

Priscilla Clayton, María Angélica Trak-Fellermeier, Alison Macchi, Rodolfo Galván, Zoran Bursac, Fatma Huffman-Ercanli, Juan Liuzzi, Cristina Palacios

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Objectives Children 10–20 years old in the US are currently obese, showing suboptimal hydration as 60% fail to meet the US Dietary Reference Intakes for water. Studies have shown a significant inverse association between hydration status and body composition in children, although most failed to use the Dual-X-Ray Absorptiometry Scan (DEXA), the gold standard for body composition. Limited studies used an objective marker to measure hydration, such as urine specific gravity (USG) from a 24-h urine collection. Therefore, this study aimed to examine the association between hydration status (measured from USG in a 24-h urine sample and assessed from three 24-h dietary recalls) and body fat % and lean mass (assessed from a DEXA scan) in children (10–13 years, n=34) and adolescents (18–20 years, n=34). Methods Body composition was measured using DEXA, total water intake (mL/d) was assessed from three 24-h dietary recalls and analyzed using the Nutrition Data System for Research (NDSR). Hydration status was objectively measured using USG via 24-h urine collection. Results Overall body fat % was 31.7 ± 7.31, total water intake was 1746 ± 762.0 mL/d, and USG score was 1.020 ± 0.011 uG. Linear regressions showed significance between total water intake and lean mass (B=12.2, p<0.05). Logistic regressions showed no significant association between body composition and USG and total water intake. Conclusions Findings showed total water intake was significantly associated with lean mass. Future research should be conducted to explore other objective markers of hydration and with a larger sample.
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Can uric acid levels be helpful for the diagnosis of CPP in girls?

December 16, 2025

Berna Singin, Zeynep Donbaloğlu, Ebru Barsal Çetiner, Bilge Aydın Behram, Aynur Bedel, Hale Tuhan, Mesut Parlak

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Objectives Central precocious puberty (CPP) and premature thelarche (PT) are two common conditions in young girls that can present with overlapping clinical features, making differential diagnosis challenging. We aim to investigate whether serum uric acid (SUA) and urinary uric acid (UUA) parameters can help differentiate CPP from PT in girls. Methods This prospective case-control study included 40 girls diagnosed with CPP, 60 with PT, and 50 healthy controls, aged 6–8 years, evaluated between 2022 and 2024. SUA, UUA, serum creatinine (SCr), urinary creatinine (UCr) levels, urinary acid/creatinine ratios (UUA/UCr) and the fractional excretion of uric acid (FEua) were measured and compared among groups. Results Age did not differ among groups. The CPP group had significantly higher SUA, UUA/UCr, and FEua levels than both PT and controls (all p<0.05), while no significant differences were observed between PT and controls. ROC analysis showed excellent discriminatory performance for SUA (AUC=0.969, p<0.001; cut-off 4.1 mg/dL: 90 % sensitivity, 95 % specificity), while UUA/UCr and FEua demonstrated fair-to-modest diagnostic utility (AUC=0.789 and 0.697, respectively). Conclusions Girls with CPP had significantly higher SUA, UUA/UCr, and FEua levels compared with PT and controls. SUA showed the strongest association with CPP and may support the differential diagnosis of pubertal disorders, but further studies are needed for clinical validation.
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A 2-year-old girl with merged phenotypes: galactosemia and Coffin–Lowry syndrome

October 13, 2025

Esra Sayar, Gizem Gökçe Altaş, Abdullah Sezer, Abdulkerim Kolkıran, Berna Ucan, Asburce Olgac

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Objectives Galactosemia is a congenital disorder of carbohydrate metabolism, in which the body is unable to metabolize galactose properly. Coffin–Lowry syndrome (CLS) is characterized by intellectual disability, developmental delay, dysmorphic features, growth retardation, vision and hearing loss, and skeletal changes, which is an X-linked disorder, with males being more severely affected, whereas the clinical findings in females show variability. This case is presented due to the rare concomitance of galactosemia and CLS. Case Presentation A 2-year-old female patient, previously diagnosed with galactosemia, who had good dietary adherence was noticed to have developmental delay, dysmorphic features, nephrolithiasis and recurrent pericardial effusions during follow-up. Further research was carried out to diagnose an underlying second disease. Metabolic tests were inconclusive. Clinical exome sequencing (CES) analysis, revealed a heterozygous c.472C>T p. (Arg158Cys) pathogenic variant in RPS6KA3 (OMIM #300075) and CLS (OMIM #303600) was diagnosed. Conclusions This case report is a unique summary of a patient with galactosemia who further was diagnosed with CLS that emphasizes the possibility of co-occurrence of rare diseases and highlights the importance of conducting further investigations in patients with unexplained findings in the context of existing metabolic diseases.
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Corrigendum to: Primary pigmented nodular adrenocortical disease (PPNAD): single centre experience

September 13, 2019

Saba Samad Memon, Kunal Thakkar, Virendra Patil, Swati Jadhav, Anurag R. Lila, Gwendolyn Fernandes, Tushar R. Bandgar, Nalini S. Shah

Article number: 20198888

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Open Access
Evaluation of children with solid thyroid nodules: a single-center experience

December 12, 2025

Ömer Günbey, Firdevs Dilara Paksoy, Nurdan Yıldırım Acar, Deniz Ökdemir, İhsan Esen

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Objectives This study aimed to evaluate the cytopathological and histopathological features of solid thyroid nodules detected in the pediatric population and to investigate the diagnostic value of thyroid ultrasonography (US) findings. Methods A retrospective review was conducted on 53 pediatric and adolescent patients who were followed up for solid thyroid nodules and underwent thyroid biopsy at a university hospital between January 2020 and December 2025. Data on patients were collected. Biopsy results were classified according to the Bethesda system. Ultrasonographic features considered suggestive of malignancy were noted. Results The median age of the patients included in the study was 16.1 years (range: 5.5–18.0), and 81.1 % were female. The most common cytopathological Bethesda categories were: category 2 (benign) in 47.2 % of cases, category 1 (nondiagnostic) in 24.5 %, category 3 (atypia of undetermined significance) in 18.9 %, category 5 (suspicious for malignancy) in 7.5 %, and category 6 (malignant) in 1.9 %. Among 19 patients who underwent surgery, 12 (63.2 %) were diagnosed with papillary thyroid carcinoma (PTC). In most of these PTC cases, three or more ultrasonographic malignancy criteria were present. However, PTC was also detected in two patients who had been cytopathologically evaluated as benign. Conclusions Given the higher risk of malignancy associated with thyroid nodules in children compared to adults, surgical decision-making should incorporate both ultrasonographic risk features and cytological classification based on the Bethesda System. When multiple suspicious ultrasound findings are present, surgical intervention should be considered even in cases with benign or indeterminate cytology.
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Effects of exercise training on cardiorespiratory fitness in children and adolescents with overweight or obesity: a systematic review

December 11, 2025

Youxiang Cao, Rui Xu, Qi Hu

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Objectives The purpose of this review was to analyze the effect of exercise training on cardiorespiratory fitness in children and adolescents with overweight or obesity. Methods MEDLINE via PubMed, Embase, SPORTDiscus, and the Cochrane library were searched and screened from inception to 15 October 2024 for randomized controlled trials. Only randomized controlled trials (RCTs) that examined the effect of exercise on subjects who were either obese or overweight (body mass index [BMI] ≥ 85th) and aged from 9 to 19 years old were included. Results The meta-analysis included 17 studies (24 trials) with 511 participants. Physical activity was found to significantly improve cardiorespiratory fitness (CRF; SMD = 0.92, 95 % CI [0.52,1.31], p < 0.001). Subgroup analysis showed that aerobic training (AT; SMD = 0.66, 95 % CI [0.34, 0.98], p < 0.01), combine training（CT; SMD = 0.64, 95 % CI [0.13, 1.16]), and high intensity interval training (HIIT; SMD = 0.88, 95 % CI [0.45, 1.30], p < 0.01) were found to effectively improve CRF, but not resistance training (RT; SMD = 0.42, 95 % CI [-0.93, 1.76], p < 0.01). Conclusions Physical activity can effectively improve CRF in children and adolescents with overweight or obesity. Moreover, subgroup analyses also revealed variability in the effects of different types of exercise interventions, with AT, CT and HIIT interventions effective in improving CRF but not RT interventions.
Open Access
GLP-1 receptor agonists reduce body mass index and total daily insulin dose in youth with type 1 diabetes: a retrospective cohort study

December 8, 2025

Frances Gonzalez, Mark W. Reid, Jaquelin Flores Garcia, Jennifer K. Raymond, Lily C. Chao

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Objectives Youth with type 1 diabetes (T1D) and obesity face challenges in achieving optimal glycemic control and experience higher risk for long-term complications. While glucagon-like peptide-1 receptor agonists (GLP-1RA) have shown weight and glycemic benefits in adults with type 1 diabetes, data in pediatric populations are scarce. We report here changes in glycemia, weight, and insulin doses in youth with T1D and obesity prescribed GLP-1RA. Methods We conducted a single-center retrospective observational study of adolescents and young adults (ages 10–20) with T1D and obesity prescribed GLP-1RA (liraglutide, exenatide, dulaglutide, semaglutide, or tirzepatide) between 2019 and 2024. Data collected included HbA1c, body weight, BMI, total daily insulin dose (TDD), and continuous glucose monitoring (CGM) metrics. Linear mixed effects models assessed changes over time, adjusting for age and gender. Results Among 24 patients (75 % female, 67 % public insurance, 88 % CGM users, 67 % insulin pump users), 12 months of GLP-1RA treatment led to significant reductions in weight (−9.49 kg, p<0.0001), BMI (−3.69 kg/m 2 , p<0.0001), and BMI Z-score (−0.30, p=0.04). CGM time-in-range increased by +7.96 % (p=0.08), and time above range (180–250 mg/dL) decreased by −3.04 % (p=0.06). TDD among pump users declined by −21.42 % (p=0.002). After approximately 16 months, HbA1c decreased by −0.81 % (p=0.04). Side effects were mainly gastrointestinal and transient. Conclusions This first longitudinal report of GLP-1RA use in youth with T1D and obesity shows clinically meaningful improvements in weight, glycemia, and insulin requirements, supporting the potential role of GLP-1RA as adjunct therapy. Larger prospective studies are needed to guide clinical practice.
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Severe metabolic acidosis in succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency: case report of a novel pathogenic OXCT1 variant (L131_E132dup) and its pathophysiological basis

January 13, 2026

Natsuho Adachi, Hideki Matsumoto, Mai Mori, Hideo Sasai, Hiroyuki Tanaka

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Objectives Ketoacidosis from idiopathic ketotic hypoglycemia (IKH) rarely causes severe acidemia or requires emergency management. We report a rare inborn error of metabolism presenting with severe acidemia secondary to ketoacidosis. Case presentation A 13-month-old boy developed severe respiratory distress during his first febrile episode. Laboratory tests revealed severe anion gap metabolic acidosis (pH 6.866, HCO 3 − 5.6 mmol/L, anion gap 23.4 mEq/L) with markedly elevated D-3-hydroxybutyrate (3HB 6,969 μmol/L). Acidosis improved following blood purification therapy, and he was discharged without sequelae. Metabolic testing suggested a ketone body utilization disorder. He was diagnosed with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency as a compound heterozygote for a previously reported T435N variant and a novel L131_E132dup variant of OXCT1, with low SCOT activity in lymphocytes. Transient expression analysis of the L131_E132dup cDNA demonstrated no residual enzyme activity. Conclusions We compared data from patients with IKH requiring hospitalization and those with SCOT deficiency. Although 3HB levels did not differ significantly, patients with SCOT deficiency had significantly lower pH and HCO 3 − levels. In ketone body utilization disorders, once ketogenesis is upregulated, ketone bodies rapidly accumulate before renal compensation, leading to severe acidemia. In cases of disproportionate acidemia during ketoacidosis, ketone body utilization disorders should be considered.
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Impact of continuous glucose monitoring on fear of hypoglycemia and quality of life in children and adolescents with type 1 diabetes

January 26, 2026

Özge Köprülü, Murat Çağlar Karataş, Sevgi Akbel, Fatma Yavuzyılmaz Şimşek, İbrahim Mert Erbaş, Özlem Nalbantoğlu, Hüseyin Anıl Korkmaz, Behzat Özkan

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Objectives This study aimed to evaluate changes in fear of hypoglycemia (FOH) and quality of life (QoL) following at least six months of continuous glucose monitoring (CGM) use in the same cohort with type 1 diabetes mellitus (T1DM). Methods This was a prospective, observational study including first-time CGM users. Auxologic, laboratory, and CGM data was collected. All participants were asked to complete the validated Turkish versions of the Pediatric Quality of Life Inventory (PedsQL) 3.0 Diabetes Module for both children and parents; the quality of life for youth scale for adolescents; children’s hypoglycemia index (CHI). Results When pre- and post-CGM scores were compared, the mean total CHI score significantly decreased (p=0.018). Among the subscales, significant reductions were also observed in the “specific situations” (p=0.044) and “behavior scales” (p=0.025) subscales, whereas the “general fears” did not show a significant change (p=0.396). In PedsQL forms, there were no statistically significant differences between pre- and post-CGM total or subscale scores. CGM metrics were also compared between participants who showed improvement in FOH and/or QoL and those who did not. Participants with improvement in FOH had significantly higher sensor active use percentages compared to those without improvement (98.95 vs. 93.0 %, p=0.039). Conclusions This study’s ability to assess pre- and post-CGM outcomes in the same patients highlights its clinical significance. Our findings suggest that using CGM in children and adolescents with T1DM is associated with a reduction in FOH.
Open Access
Efficacy and outcomes of 6-month triptorelin formulation in girls treated for central precocious puberty for 24 months and beyond

January 26, 2026

Allison Foreman, Karen O. Klein, Marcela Vargas Trujillo

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Objectives Gonadotropin-releasing hormone agonists are used to suppress physical signs of puberty and improve height outcomes by decelerating bone age maturation in patients with central precocious puberty (CPP). Published data assessing biochemical and clinical parameters in patients with CPP treated with six-monthly triptorelin beyond 12 months is scant. Methods Thirty-seven girls with CPP were treated with 22.5 mg six-monthly intramuscular triptorelin. We assessed luteinizing hormone (LH) and E2 levels throughout treatment and changes in pubertal stage, bone age (BA), and predicted adult height (PAH). Results LH was suppressed in 100 % of girls through 36 months on treatment, except for 2 girls with an LH >4 mIU/mL at 6 months, both suppressed by 12 months and beyond. Estradiol was suppressed in all girls at all points measured. Fifty-one per cent and 32.4 % had no further breast development or regression, respectively, and 16.2 % had further breast development. Average BA/CA remained at 1.2 ± 0.1 until 24 months, at which time it decreased to 1.1 ± 0.1. Height velocity over the first 12 months of treatment averaged at 5.5 cm/year ± 2.2 cm, 4.6 cm/year ± 1.6 between 12 and 24 months, and 3.8 cm/year ± 2.2 between 24 and 36 months. On average, PAH increased by 5.4 ± 5.5 cm on treatment (range 1.8–18 cm). Conclusions Six-monthly intramuscular triptorelin for the treatment of CPP in girls demonstrated efficacy in LH and estradiol suppression, regression or stabilization of breast maturation, normalization of height velocity, improved BA/CA ratio, and increased PAH, throughout 2 years of treatment and beyond.
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Berardinelli–Seip congenital lipodystrophy type-2: a case series of three Indian children

February 2, 2026

Surbhi Gyani, Mithila Das Mazumder, Medha Mittal, Swati Dokania, Anuradha Rai, Prabhakar Bindhu, Seema Kapoor

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Objectives Congenital generalised lipodystrophies (CGL) are a group of rare genetic disorders characterised by absence of adipose tissue and disturbances in lipid and carbohydrate metabolism. These disorders are characterised by distinct muscular phenotype with acromegaloid features, acanthosis nigricans and hepatomegaly. Metabolic disturbances lead to long-term complications such as diabetes, metabolic fatty liver disease, pancreatitis and cardiovascular disease. To highlight the clinical features and diagnostic approach towards lipodystrophies through the presentation of three Indian children with classical phenotypic and biochemical features. Case presentation Three Indian children (two siblings and one unrelated child), all born to non-consanguineous parents with uneventful perinatal histories, presented with progressive abdominal distension and developmental delay. Clinical examination showed generalised loss of subcutaneous fat, muscular habitus, acanthosis nigricans, and hepatosplenomegaly. Laboratory investigations revealed elevated transaminases and hypertriglyceridaemia. Ultrasonography showed hepatomegaly with fatty liver changes. Exome sequencing confirmed presence of variants consistent with the diagnosis of CGL. Though metreleptin was not available, diet modification and increased physical activity were initiated along with lipid lowering drugs which have helped to improve the dyslipidaemia in the siblings. Conclusions CGL is a rare but distinct disorder that should be considered in children presenting with generalised muscularity, hepatomegaly, and metabolic abnormalities.
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Knowledge of advanced carbohydrate counting in children and adolescents with type 1 diabetes and its effect on glycaemic control

December 23, 2025

Abeer Alassaf, Lobna Gharaibeh, Sarah Ibrahim, Shatha Alkhalaileh, Rasha Odeh

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Objectives Knowledge of advanced carbohydrate counting among individuals with type 1 diabetes (T1D) is essential for achieving optimal glycaemic control. Our aim was to study, among individuals with T1D and their parents, knowledge of and adherence to carbohydrate counting and to investigate factors that might affect their knowledge and adherence. Methods This was a cross-sectional questionnaire-based study in which a PedCarbQuiz (PCQ) questionnaire to test for carbohydrate counting knowledge was distributed to individuals with T1D seen at the paediatric diabetes clinic at Jordan University Hospital between February 2022 and January 2023. The possible associations between clinical and socioeconomic factors and the PCQ score were studied. Possible predictors of high scores and adherence were assessed using logistic regression analysis. Results The average knowledge score was 59.4 ± 12.8 out of 78. Diabetes duration was negatively correlated with knowledge score and adherence. A higher frequency of blood glucose testing was associated with a higher score (p=0.006) and better adherence (p<0.001). Glycated haemoglobin was negatively correlated with the knowledge score (Pearson correlation= −0.233; p<0.001). A higher knowledge score was associated with a higher parental educational level and family income. The predictors of the knowledge score were diabetes duration and income. The predictors of adherence were diabetes duration and the number of clinic visits during the past year. Conclusions Knowledge of advanced carbohydrate counting among individuals with T1D was associated with higher socioeconomic status. A longer duration of diabetes was associated with a lower knowledge score, which was associated with poorer glycaemic control.
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Diagnostic pitfalls in aldosterone defects: a 9-year follow-up of early-onset pseudohypoaldosteronism type 2

December 12, 2025

Mevra Cay, Ihsan Turan, Bahriye Atmıs, Leman Damla Kotan, Sukriye Tugce Celebi, Ayse Merve Cimen, Eda Mengen, Aysun Karabay Bayazıt, Bilgin Yuksel

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Objectives Pseudohypoaldosteronism type 2 (PHA2) is a rare autosomal dominant electrolyte disorder characterized by hypertension, hyperkalemia, metabolic acidosis, and suppressed renin activity, usually with preserved renal function. Pathogenic variants in WNK1, WNK4, KLHL3 , and CUL3 have been identified, with CUL3 mutations particularly associated with early-onset and severe phenotypes. Thiazide diuretics are effective in correcting both electrolyte imbalance and hypertension. Case presentation We report a pediatric patient with early-onset PHA2 caused by a de novo splice-site variant (c.1207-2A>C) in the CUL3 gene. The patient, first evaluated at 2 years and 7 months of age for recurrent vomiting, was found to have hyponatremia, hyperkalemia, and metabolic acidosis, initially treated with fludrocortisone. On referral, significant hypertension, hyperkalemia, and suppressed renin and aldosterone were observed. Initiation of low-dose thiazide therapy led to normalization of blood pressure and electrolytes. Long-term follow-up confirmed clinical stability, normal growth, and appropriate developmental milestones. Conclusions Aldosterone pathway defects may be misdiagnosed during the initial clinical assessment. This underscores the importance of a comprehensive diagnostic approach incorporating biochemical profiling and genetic testing to ensure accurate identification. Next-generation sequencing has emerged as a valuable tool for establishing a definitive diagnosis, particularly in cases with aldosterone defects. Timely and accurate diagnosis of PHA2 is critical, as persistent metabolic acidosis and hypertension may lead to significant growth and developmental impairments in pediatric patients. Despite the potential severity of clinical manifestations associated with CUL3 -related PHA2, it is noteworthy that treatment with thiazide diuretics alone can effectively restore electrolyte balance and support normal growth and development.
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Tolvaptan: a potential rescue therapy for SIADH with refractory hyponatremia associated with acute intermittent porphyria

January 23, 2026

Rahul Gupta, Pradeep Kumar Gunasekaran, Preeti Joon, Pradakshna Porchezhian, Aliza Mittal, Lokesh Saini

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Open Access
Efficacy, adherence, and cost-efficiency of three growth hormone treatment strategies in children with idiopathic short stature: a retrospective cohort study

January 28, 2026

Li Jie, Li Bo, Chen Lina, Chen Libin, He Li, Liang Yan

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Objectives The study compares the efficacy, adherence, and cost-effectiveness of three recombinant human growth hormone (rhGH) regimens in children with idiopathic short stature (ISS) to optimize treatments. Methods This retrospective cohort study involved 105 children with ISS who were divided into three groups: short-acting rhGH for 48 weeks (Group 1), PEG-rhGH for 48 weeks (Group 2), and sequential therapy (PEG-rhGH for 24 weeks + short-acting rhGH for 24 weeks) (Group 3). The primary endpoints were the annual changes in the height standard deviation score (ΔHtSDS) and height velocity (HV). Adherence was measured by the missed injection rate (%), and the cost-effectiveness analysis employed the cost-effectiveness ratio. Results After one year, all regimens improved HtSDS and HV (p<0.05), with Groups 2 and 3 showing better HV and ΔHtSDS than Group 1. Group 2 had the highest adherence (0 % missed rate), followed by Group 3 (0.14 %) and Group 1 (0.27 %). Missed injections were the only significant predictor of ΔHtSDS (β=−0.196, p=0.048). Financially, Group 3 had lower costs (¥64,730) and a better cost-effectiveness ratio than Group 2 (¥67,479). No serious adverse events occurred. Conclusions Sequential therapy offers efficacy and compliance benefits for long-acting rhGH while lowering costs, thus making it suitable for ISS treatment. Long-acting therapy is ideal for individuals with the financial means to support such treatment, whereas short-acting therapy is an option for individuals facing budgetary constraints. Future research should include longer follow-up and quality-of-life (QoL) assessments to improve the cost-benefit analysis.
Open Access
Childhood thiamine-responsive megaloblastic anemia and diabetes: a case series highlighting early diagnosis and management

February 3, 2026

Uğur Cem Yılmaz, Arpita Bhriguvanshi, Deniz Özalp Kızılay, Samim Özen, Şükran Darcan, Yusuf Can Doğan, Esra Işık, Nihal Karadaş, Jamie R. Wood, Ingrid Libman, Damla Gökşen

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Objectives Thiamine-responsive megaloblastic anemia (TRMA) is a rare but clinically impactful disorder caused by pathogenic SLC19A2 variants. Despite its characteristic triad – megaloblastic anemia, non-autoimmune early-onset diabetes, and sensorineural hearing loss – TRMA is frequently unrecognized at initial presentation, delaying life-altering treatment. This report highlights how early thiamine therapy can rapidly reverse dysglycemia and hematologic abnormalities, and how diagnostic delay may permit irreversible neurological injury. Case presentation Case 1, a six-month-old male, presented with diabetic ketoacidosis and profound anemia. High-dose thiamine produced a striking metabolic response: near-immediate glycemic stabilization, complete insulin discontinuation within days, and normalization of hematologic parameters. Despite optimal early treatment, progressive hearing loss necessitated cochlear implantation. Case 2, a three-year-old male, exhibited recurrent anemia, difficult-to-control diabetes despite insulin therapy, and established sensorineural hearing impairment, following a stroke at age two. Thiamine initiation after delayed genetic confirmation improved dysglycemia and corrected anemia, yet neurological sequelae remained fixed. Conclusions These cases underscore TRMA as a high-impact, reversible cause of early-onset diabetes – but only when recognized promptly. Thiamine can induce complete metabolic remission and insulin independence, offering a therapeutic opportunity unmatched in most pediatric diabetes etiologies. However, once neurological damage develops, metabolic correction alone is insufficient. TRMA should be urgently considered in any child with recurrent macro/megaloblastic anemia and atypical or antibody-negative diabetes, especially with hearing concerns. Early genetic testing and immediate thiamine therapy are essential to prevent avoidable, lifelong morbidity. In children with unexplained megaloblastic anemia and atypical diabetes, immediate TRMA screening may prevent irreversible complications.
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Is the tracheal index useful for evaluating the thyroid in infants suspected of hypothyroidism?

December 11, 2025

Nursel Muratoglu Sahin, Hasibe Gokce Cinar, Behiye Sarikaya Ozdemir, Meliksah Keskin, Semra Cetinkaya, Senay Savas Erdeve

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Objectives Measuring the longitudinal axis of the thyroid in infants can be difficult because of their short necks. The tracheal index (TI) provides an estimate of thyroid size based only on transverse measurements. Three studies have examined TI in infants, all of which focused on establishing normative data. This study evaluated the usefulness of TI in infants with suspected congenital hypothyroidism. Methods Eighty infants with elevated TSH levels, identified during newborn screening, were included in this study. The thyroid size of the infants was assessed using thyroid volume (TV), TV standard deviation score (SDS), and TI. Results TI was positively correlated with both TV and TV SDS (r = 0.381, p = 0.0001 and r = 0.400, p = 0.0001, respectively). However, no correlation was found between TI and TV for infants born before 38 weeks of gestation, or for those with a BW of less than 2,700 g or a birth weight (BW) below −1 SDS (p > 0.05). The sensitivity and specificity of TI in identifying thyroid hyperplasia were 53.8 % and 65.7 %, respectively. Conclusions TI showed a positive correlation with TV, highlighting its usefulness in both hypothyroid and normal infants. However, there was no correlation between TI and TV in infants born before 38 weeks of gestation or with a BW below 2,700 g. Additionally, the sensitivity and specificity of TI for assessing thyroid hyperplasia were found to be low. These results suggest that its use in infants—especially those who are preterm, have low BW, or present with thyroid hyperplasia—is limited.
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A comparative study of the interpretation results of different artificial intelligence bone age assessment software

December 2, 2025

Jinshui He, Shaowei Li, Shunyong Zheng, Xiaochun Shen, Yugui Zhang

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Objectives To compare the interpretation results of different AI bone age assessment software using the TW3 (Tanner–Whitehouse 3) method. Methods The comprehensive analysis included bone age readings for various age groups (3–17 years) using five methods: Reference-TW3, YIZHUN-TW3, LIANYING-TW3, AIBAA-TW3, and manual-TW3. Researchers calculated mean values and standard deviations, employed linear regression analysis for predictive accuracy comparison, and generated Bland–Altman plots to assess agreement with the reference standard. Results The comparative analysis of different TW3 methods revealed distinct variations in predictive accuracy. Notably, the YIZHUN-TW3 and LIANYING-TW3 models exhibited exceptional predictive accuracy, with multiple R-squared values indicating strong correlation with the reference standard (0.9861 for both methods). This was markedly higher than the AIBAA-TW3 model, which had a multiple R-squared value of 0.9591, and the manual-TW3 method with 0.9732. Statistical significance testing further confirmed the superiority of YIZHUN-TW3 and LIANYING-TW3, with p-values < 0.001 in linear regression analysis, while AIBAA-TW3 and manual-TW3 showed non-significant results in some comparisons. The AIBAA-TW3 model consistently predicted lower bone ages across various age groups, particularly in teenagers, with a notable underestimation trend. This pattern was supported by Bland–Altman analysis, which showed a mean difference of −0.6928 years for AIBAA-TW3, indicating a substantial underestimation. Conclusions The study highlights the advanced predictive accuracy and reliability of the YIZHUN-TW3 and LIANYING-TW3 methods in bone age assessment. While the AIBAA-TW3 method showed strong predictive power, its consistent underestimation trend suggests a need for recalibration.
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Cataract in children with type 1 diabetes: a single-center experience from North India on an underrecognized complication

November 24, 2025

Devi Dayal, Soumya Jyoti Raha, Sayan Banerjee, Anju Bala, Rakesh Kumar, Jaspreet Sukhija, Srishti Raj, Jaivinder Yadav

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Objectives Consensus guidelines recommend cataract screening, along with a comprehensive eye evaluation, based on symptoms or at the time of screening for retinopathy in type 1 diabetes (T1D). This study evaluated the prevalence of cataract in T1D children and factors associated with it in resource-limited settings. Methods We conducted a retrospective, hospital-based observational study at a tertiary care center in North India, analyzing children with T1D who developed cataracts between April 2015 and March 2025. Clinical, anthropometric, biochemical, and ophthalmologic data were extracted from medical records. Results Of 1776 children diagnosed with T1D in the study period, 21 (1.18 %) developed cataracts. The median age at diabetes diagnosis was 7.7 years, and cataract diagnosis occurred at a median age of 9.9 years. Bilateral involvement was universal. Cataracts were present at the time of diagnosis of diabetes in 14.2 % and developed within the first year (early cataract) in 28.6 %. Posterior subcapsular cataract was the most common morphology. Notably, 38.1 % had Mauriac syndrome, all of whom developed cataracts later in the disease course, with significantly lower c-peptide levels. A strong negative correlation existed between baseline HbA1c and cataract onset interval (r=−0.468, p=0.032). Six children improved with glycemic control alone, while 10 underwent surgery. Conclusion Cataracts in children with T1D can occur early and may reflect poor metabolic control or autoimmune triggers. Screening should be considered at diagnosis and within the first year. Our findings underscore the need for region-specific guidelines to facilitate early detection and management of this vision-threatening yet treatable complication.
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Management of porphyria-like syndrome in tyrosinemia type 1

October 13, 2025

Hacer Basan, Berrak Bilginer Gürbüz, Fatih Gürbüz, Serhan Özcan, Aynur Küçükçongar Yavaş, Çiğdem Seher Kasapkara

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Objectives Hereditary tyrosinemia type 1 (HT1) is a rare metabolic disorder that may present with severe hepatic and neurological complications. Acute porphyria-like crises in HT1 are extremely uncommon and may be associated with severe electrolyte disturbances such as hyponatremia due to the syndrome of inappropriate antidiuretic hormone secretion (SIADH). Case presentation We describe a 9-year-old girl with genetically confirmed HT1 who developed an acute porphyria-like crisis accompanied by severe symptomatic hyponatremia secondary to SIADH. The patient presented with abdominal pain, vomiting, and progressive neurological deterioration culminating in generalized tonic–clonic seizures. Laboratory evaluation revealed profound hyponatremia, elevated urinary succinylacetone, and increased porphyrin precursors. Management included intravenous hemin therapy, fluid restriction, and intensive care support, leading to full neurological recovery without sequelae. Conclusions To our knowledge, this is the first reported case in Türkiye successfully managed with hemin during an acute porphyria-like episode in HT1 and only the second documented case of SIADH in this context. This case underscores the importance of recognizing SIADH and optimizing fluid management in patients with HT1 presenting with acute neurological crises.
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Rare phenotypic spectrum of 17β-hydroxysteroid dehydrogenase 3 deficiency: case series from infancy to adolescence

January 26, 2026

Subbiah Sridhar, Aravind Kumar Muthu, Sreenivasan Palaniappan, Kuppusamy Nandini, Aravindan Chandrasekaran, Rani Kalavathy

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Objectives 17β-Hydroxysteroid dehydrogenase 3 (17β-HSD3) deficiency is a rare 46XY disorder of sex development (DSD) of androgen biosynthesis. We aimed to describe the complexities in diagnosis, gender assignment, and the timing of irreversible surgical interventions in 17β-HSD3 deficiency. Case presentation We described three genetically confirmed cases of 46XY DSD due to 17β-HSD3 deficiency. All of them had female-appearing external genitalia, and the third case had well-developed breasts with clitoromegaly. The biochemical evaluation showed hCG-stimulated T/A ratios of 0.4 and 0.35 in Cases 1 and 2, respectively, and an unstimulated T/A ratio of 0.25 in Case 3. Molecular analysis revealed three different HSD17B3 variants: c.72C>A(p.Cys24Ter), c.764C>T(p.Ser255Leu), and c.607-1G>A(3’splice site) in the respective cases. Despite the female-appearing external genitalia in Case 1, the parents decided to rear the child as male, whereas Cases 2 and 3 retained a female gender identity. The first two cases were advised to have regular follow-up for gender dysphoria, while Case 3 was managed with injectable leuprolide depot and anti-androgens. Conclusions 17β-HSD3 deficiency remains a challenging 46 XY DSD due to its clinical heterogeneity and diverse molecular spectrum. This report adds to current molecular knowledge by reporting two novel variants in the HSD17B3 gene.
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Meier–Gorlin syndrome due to a recurrent DONSON variant in a Turkish family: first report of thumb aplasia and long-term growth data

February 2, 2026

Abdullah Sezer, Fatma Zehra Yalçın, Abdulkerim Kolkıran, Semra Çetinkaya

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Objectives Meier–Gorlin syndrome (MGORS) is a rare primordial dwarfism characterized by microtia, patellar hypoplasia/aplasia, and short stature. Additional features may include skeletal, respiratory, urogenital, and endocrine abnormalities. 13 genes have been implicated, with DONSON , essential for replication fork stability and intra–S phase checkpoint activation, being the most recently identified. Only six patients with DONSON -related MGORS have been reported. This study expands the phenotype by presenting long-term follow-up and prenatal data in two affected siblings. Case presentation The index patient, a 10-year-old male, had short stature, microcephaly, microtia, craniofacial features, hearing loss, patellar aplasia, and genitourinary anomalies. Despite an early growth delay, his height progressively improved without intervention. Whole-exome sequencing revealed a homozygous pathogenic c.631C>T p.(Arg211Cys) variant in DONSON (NM_017613.3). Following genetic counseling, the family declined prenatal testing in a subsequent pregnancy complicated by intrauterine growth restriction. The newborn female sibling carried the same variant and displayed DONSON -related MGORS features, including the first reported case of thumb aplasia. Additional findings in the family included renal hypoplasia, 2–4 toe syndactyly, and hypospadias. Conclusions This is the third report of DONSON c.631C>T p.(Arg211Cys) in Turkish patients. While the recurrence in the same population suggests a founder effect, haplotype–based analysis is required. Thumb aplasia expands the known phenotype of DONSON -related MGORS, and the observed moderate course of growth retardation offers prognostic value. These findings highlight the importance of including DONSON in MGORS gene panels, considering population-specific variants, and systematically documenting rare phenotypic features to improve diagnosis, follow-up, and genetic counseling.
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Glutathione synthetase deficiency: severe hemolysis and metabolic acidosis with symptoms in the intrauterine period

November 10, 2025

Aysegul Demirsu, Ferid Aliyev, Elif Yucel, Kısmet Çıkı, Yılmaz Yıldız, Gizem Ürel-Demir, Pelin Ozlem Simsek-Kiper, Ali Dinc Bozat, Hakan Aykan, Ibrahim Halil Öncel, Erdem Fadiloglu, Sule Yigit

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Objectives Glutathione synthetase deficiency (GSSD) is a rare, autosomal recessive disease that causes disruption in glutathione metabolism. According to clinical findings, it occurs in three forms: mild, moderate and severe. In severe forms, metabolic acidosis and hemolytic anemia are accompanied by neurological findings. Although there is no definitive treatment, early initiation of sodium bicarbonate, vitamin C, and vitamin E supplements is one of the most important factors affecting prognosis. Case presentation Here we present a severe case of GSSD in a neonate with intrauterine periventricular cystic lesions, and postnatally developed severe hemolytic anemia, metabolic acidosis, and dilated cardiomyopathy. Exchange transfusion and peritoneal dialysis were performed because of refractory hyperbilirubinemia and acidosis despite sodium bicarbonate and vitamin supplementation. Conclusions Early diagnosis and initiation of supportvive treatment with sodium bicarbonate, vitamin C, and vitamin E are esential for survival in severe GSSD. Dilated cardiomyopathy may represent a new complication of disease, highlighting the need for early cardiac monitoring.
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Positive neonatal screening test for congenital adrenal hyperplasia in a case with 3β-Hydroxysteroid dehydrogenase type 2 deficiency

October 21, 2025

Merve Anik, Deniz Erdogan, Tugba Baris, Ilknur Arslanoglu, Aylin Tugba Canbaz, Tulay Guran

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Objectives The neonatal CAH screening test is mainly performed for early detection of and avoidance of mortality due to salt-wasting crises related to severe 21-hydroxylase deficiency. 3β-hydroxysteroid dehydrogenase type 2 (HSD3B2) deficiency is a rare subtype of CAH that leads to salt-wasting crises. To present a case of HSD3B2 deficiency with a positive neonatal CAH screening test, emphasizing the role of newborn screening in early diagnosis. Case presentation A 46,XY newborn who assigned female at birth, was admitted on the fifth postnatal day due to atypical genitalia. His neonatal CAH screening test subsequently resulted positive. Low cortisol and aldosterone levels, elevated adrenocorticotropic hormone (ACTH), hyponatremia, and hyperkalemia were detected. Steroid hormone profile suggested a diagnosis of HSD3B2 deficiency, and subsequent genetic testing revealed compound heterozygous variants in the HSD3B2 gene. Electrolyte balance was achieved with hydrocortisone and fludrocortisone replacement therapy. Conclusions The neonatal CAH screening test offers an extra advantage in guiding early diagnosis and treatment of patients with rare salt-wasting forms of CAH, such as HSD3B2 deficiency in countries where these conditions are relatively more common.
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A rare metabolic cause of premature ovarian insufficiency: case report of transaldolase deficiency

December 17, 2025

Özge Köprülü, Esra Er

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Objectives Transaldolase deficiency (TALDO-D) is a rare autosomal recessive disorder of the pentose phosphate pathway, characterized by growth restriction, dysmorphism, cytopenia, with variable liver involvement. Case presentation Herein, we report a rare case of TALDO-D who presented with primary amenorrhea, elevated gonadotrophins, and low/undetectable estradiol levels, consistent with premature ovarian insufficiency. Molecular genetic analysis identified a homozygous frameshift variant in TALDO1 (c.345dup), caused by a duplication. Conclusions This case expands the clinical spectrum of TALDO-D by highlighting its association with premature ovarian insufficiency. Transaldolase deficiency should be kept in mind in the differential diagnosis of patients with premature ovarian insufficiency, mainly in the presence of hepatomegaly, cytopenia or other multisystem involvement.
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The incidence of sellar abnormalities in newly diagnosed children with central precocious puberty: a single-center study based on 625 cases

December 24, 2025

Wen-Hui Shi, Hong-Ru Zhang, Jun Sun, Jin-Bo Li, Ying Yang, Ya Xiao, Wei Wang

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Objectives Although magnetic resonance imaging (MRI) examination of the sellar region is an important tool for evaluating the potential causes of central precocious puberty (CPP), its value in children with CPP remains controversial. This study aimed to investigate the types and incidence of abnormal MRI findings in children with CPP at initial diagnosis and to reassess whether routine sellar MRI examination remains warranted. Methods A retrospective analysis was conducted on 625 children (502 girls and 123 boys) diagnosed with CPP from January 2017 to January 2025. Growth and development indicators, laboratory test results and sellar MRI image data were collected, and the number and incidence of sellar MRI findings were compared between the groups. Results Among the 502 girls, 86 (17.1 %) exhibited abnormal sellar MRI findings; however, only 2 cases (0.4 %) were identified as pathological, both of which were hypothalamic hemangiomas. Among the 123 boys, 31 (25.2 %) showed abnormal findings, with no pathological brain damage detected. Boys had significantly higher positive sellar MRI rates than girls (p=0.040). The rate of MRI positivity in girls decreased with age (p<0.001). Girls diagnosed with organic CPP (OCPP) were significantly younger at diagnosis and had more advanced bone age compared to those with idiopathic CPP (ICPP) (p=0.044 and 0.014, respectively). Conclusions In Chinese children with CPP, ICPP may be predominant, and pathological lesions on sellar MRI are relatively rare. Careful consideration should be given to whether to perform sellar MRI in newly diagnosed children with CPP routinely.
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Dyggve–Melchior–Clausen syndrome in three siblings: a unique case series with dual diagnosis of Down syndrome and Hirschsprung disease

January 20, 2026

Meryem Halis, Mehmet Kocabey, Fatma Ceren Sarıoğlu, Suzan Süncak, Merve Bilen, Nur Arslan, Semra Gürsoy, Handan Güleryüz Uçar, Ayfer Ülgenalp, Özlem Giray Bozkaya

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Objectives Dyggve–Melchior–Clausen (DMC) syndrome is a rare autosomal recessive skeletal dysplasia caused by mutations in the DYM gene. It is characterized by progressive spondyloepimetaphyseal dysplasia, short stature, coarse facial features, microcephaly and intellectual disability. While it clinically resembles Morquio syndrome (mucopolysaccharidosis type IV, MPS IV), DMC is distinguished by cognitive impairment, absence of corneal clouding, normal urinary glycosaminoglycans and distinctive radiological features. Case presentation We reported three siblings with DMC syndrome. Two 4-year-old monozygotic male twins, born to consanguineous parents, presented with growth retardation and developmental delay. Radiographs showed generalized platyspondyly, rhizomelic shortening and metaphyseal dysplasia, while biochemical tests excluded MPS IV. Molecular tests revealed a homozygous deletion in exon 16 of the DYM gene. The third sibling, with Down syndrome, also exhibited similar skeletal features and carried the same DYM deletion. Conclusions The clinical and radiological features of our patients were consistent with DMC syndrome, with partial overlap with MPS IV. This case series represents the first reported coexistence of DMC and Down syndrome. In addition, we identified a novel homozygous deletion in exon 16 of the DYM gene, which broadens the known mutational spectrum. This finding also highlights the importance of comprehensive genetic testing when standard sequencing results are inconclusive. The presence of neurological findings, such as seizures, further supports the need for combined genetic and neurological evaluation in these patients.
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Successful desensitization to alglucosidase alfa in a very young infant with Pompe disease

January 20, 2026

Funda Aytekin Güvenir, Gökhan Yörüsün, Zeynep Şengül Emeksiz, Oya Kıreker Köylü, Aynur Küçükçongar Yavaş, Emine Dibek Mısırlıoğlu

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Objectives Enzyme replacement therapy (ERT) with alglucosidase alfa markedly improves outcomes in infantile-onset Pompe disease, yet hypersensitivity reactions may interrupt treatment and require desensitization. We report a very young infant in whom ERT was successfully maintained after allergic reactions through a structured desensitization protocol. Case presentation A 3-month-old male with infantile-onset Pompe disease developed generalized urticaria during the seventh alglucosidase alfa infusion despite premedication and infusion rate adjustment. Skin testing was not feasible due to age. After obtaining informed consent, desensitization was initiated in a specialized setting. Initial three- and four-bag protocols were unsuccessful because of recurrent urticaria. A final five-bag, sixteen-dose protocol using enzyme concentrations from 0.0005 to 1 mg/mL enabled the full therapeutic dose to be administered safely. The same regimen was subsequently applied in following infusions without recurrence of symptoms. Conclusions This case demonstrates that desensitization can be effectively implemented even in very young infants with Pompe disease who experience hypersensitivity during ERT. A carefully designed protocol and close clinical monitoring allow continuation of this life-saving therapy when no alternative treatment exists.
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Do patients with idiopathic short stature or partial growth hormone deficiency need to continue growth hormone therapy during puberty?

December 30, 2025

Sena Cantas-Orsdemir, Adem Orsdemir, Carly S. Barron, Laurie E. Cohen, Ala Ustyol, Erica A. Eugster, Maria A. Fermin, Avni N. Shah, Despoina Galetaki, Paul B. Kaplowitz

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Objective Growth hormone (GH) therapy in children with idiopathic short stature (ISS) and partial GH deficiency increases adult height. However, the benefit of continuing GH therapy through puberty is unclear. We aimed to assess whether GH therapy improves adult height compared to predicted adult height (PAH) at puberty onset. Methods We performed a multicenter retrospective chart review of patients with ISS and partial GH deficiency. GH therapy began before or at the onset of puberty and continued until height velocity was <2.5 cm/year. Bone age and PAH at different treatment time points were collected. Results About 60 % of the 72 patients started GH before puberty. The mean duration of GH therapy was 3.5 years in girls and 4.6 years in boys. The mean PAH gain from GH start to puberty onset was 8 cm for boys (p<0.01) and 3.1 cm for girls (p<0.01). The mean difference between near adult height and PAH at puberty onset (ΔHDP) was −0.62 cm (p=0.75) for boys and 1.82 cm for girls (p=0.07). A higher bone age to chronological age ratio at therapy start (p<0.01), higher body mass index standard deviation score (SDS) at therapy start (p<0.05), higher mid-parental height (p<0.05), and longer duration of pubertal GH therapy (p<0.05) were associated with a greater ΔHDP, whereas a higher height SDS at the onset of puberty (p<0.01) and a higher IGF-1 SDS at therapy start (p<0.01) were associated with a smaller increase. Peak GH levels and sex were not statistically significant predictors. The average cost for the final year of GH therapy was $122,000. Conclusions While GH therapy before puberty increases PAH, continuing treatment through puberty did not, on average, yield further height benefit and was costly. Physicians might consider whether to continue GH therapy once a child appears to have reached an adequate PAH.
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Thyroid hormone metabolism defect due to compound heterozygous SECISBP2 mutations: first reported case in Korea

November 28, 2025

Jina Yang, Jung Min Ahn, Hwal Rim Jeong

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Objectives To present the first Korean case of thyroid hormone metabolism defect (THMD) caused by compound heterozygous SECISBP2 mutations and to expand our current understanding of its clinical spectrum. Case Presentation A 3-year-old girl presented with short stature, global developmental delay, bilateral semiptosis, and congenital sensorineural hearing loss. Thyroid function tests revealed decreased T3, elevated free T4, and normal TSH. Genetic analysis identified compound heterozygous nonsense variants in SECISBP2 : a previously reported p.Arg120Ter and a novel p.Arg672Ter. Treatment with liothyronine normalized thyroid function, but developmental and speech delays persisted. Conclusions This case broadens the mutational spectrum of SECISBP2 -related THMD and demonstrates its multisystemic nature, including auditory and possible ocular involvement. Despite biochemical improvement, neurodevelopmental outcomes remained poor, emphasizing tissue-specific T3 deficiency and the limited efficacy of current therapy. Early recognition and molecular diagnosis are crucial for timely management and long-term follow-up.
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Phosphoglucomutase 1 deficiency misdiagnosed as Laron syndrome

October 17, 2025

Seyit Ahmet Uçaktürk, Emre Özer, Ahmet Cevdet Ceylan, Eda Mengen

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Objectives Protein glycosylation is a crucial process involving the addition of oligosaccharides to proteins, which plays a significant role in stabilizing proteins and mediating protein–protein interactions. Mutations in genes associated with glycosylation can lead to congenital disorders of glycosylation (CDG), resulting in multisystem disorders. One such example is phosphoglucomutase 1 (PGM1) -CDG, caused by a deficiency of the PGM1 enzyme. In this report, we describe a patient with PGM1-CDG who was initially misdiagnosed with growth hormone insensitivity and benefited from recombinant human insulin-like growth factor-1 (rhIGF-1) therapy. Case Presentation A 2-year-11-month-old female patient, born to first-degree cousin parents, presented with hypoglycemia and short stature. Her physical examination revealed frontal bossing, infantile facial appearance, and short stature. Laboratory investigations revealed that basal and stimulated growth hormone levels were very high, IGF-1 was low, and the inadequate response to the IGF generation test was consistent with growth hormone insensitivity (GHI). The patient was started on rhIGF-1 therapy, resulting in significant height gain. Subsequently, the patient showed improvement in height with rhIGF-1 therapy. The patient, who had additional findings such as elevated creatine kinase (CK) and transaminase levels and cardiomyopathy, was diagnosed with PGM1-CDG. Conclusions This case highlights that PGM1-CDG can mimic clinical and laboratory findings of GHI. CDG diagnosis should be considered in cases with clinical and laboratory findings of GHI accompanied by multisystem disorders such as hepatopathy, elevated CK, and cardiomyopathy. This patient’s successful response to rhIGF-1 therapy highlights the potential benefits of targeted therapies in treating growth hormone-related disorders in patients.
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The first report of a gross deletion in the SCNN1G gene in a case presenting with hyponatremic convulsion at fifth year of treatment

November 24, 2025

Leyla Gizem Bolaç Özyılmaz, Ayberk Türkyılmaz, Özge Pelin Akbay, Aydilek Dağdeviren Çakır, Ahmet Uçar

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Objectives Systemic pseudohypoaldosteronism type 1(PHA1) is a rare, autosomal recessive disorder resulting from loss-of-function mutations in epithelial sodium channel subunit genes. These mutations lead to aldosterone resistance in multiple tissues and typically manifest as hyponatremia, hyperkalemia, and metabolic acidosis. Case presentation We report the case of a male infant with a history of severe neonatal hyponatremia and hyperkalemia. The case presented to our center with persistent electrolyte imbalances and treatment-resistant eczematous skin lesions. Initial sequencing of PHA1-associated genes (SCNN1A, SCNN1B, and SCNN1G) did not reveal any pathogenic variants. At the age of five, the case experienced a febrile seizure, during which laboratory related biochemical tests showed isolated hyponatremia with normokalemia. Further genetic work-up with high-resolution chromosomal microarray analysis was performed, revealing a novel homozygous gross deletion involving exons 2–3 of the SCNN1G gene. Conclusions This is the first reported case of a homozygous gross deletion in the SCNN1G gene. This case expands the phenotypic and genotypic spectrum of systemic PHA1 and emphasizes the importance of considering copy number variants in genetically unresolved cases of PHA1, especially those presenting with atypical electrolyte profiles and extrarenal manifestations such as persistent eczema.
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Customized birth weight percentiles for identification of SGA short statue

February 4, 2026

Corinna Melanie Held, Andreas Krebs, Dirk Manfred Olbertz, Niels Rochow, Manfred Voigt, Karl Otfried Schwab

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Objectives About 10–15 % of small for gestational age (SGA) children have persistent short stature (SGA-SS) and may benefit from growth hormone therapy. Customized percentiles that consider maternal height and weight, among other factors, appear to more accurately identify pathologically small newborns at higher risk of perinatal morbidity. We aim to determine whether the consideration of maternal height and weight in definition of SGA has an impact on the frequency of SGA-SS diagnosis and potential therapy. Methods Birth data of 1321 infants with a gestational age of ≥30 weeks of gestation were analyzed using both conventional percentiles and customized birth weight percentiles, the latter incorporating maternal height and weight. Growth data at 2 and 4 years of age were analyzed for the presence of persistent short stature (SGA-SS) in infants born SGA. Results Using the conventional birth weight percentiles, 129 (9.8 %) newborns are classified as SGA compared to 158 (11.9 %) using the customized percentiles. Forty-one infants of high-weight mothers were identified using only the customized classification. Twelve infants born to low-weight mothers were identified by conventional classification only. At 2 and 4 years of age, seven children had persistent short stature. The diagnosis of SGA-SS differed in only one case between the conventional and customized birth weight percentiles. Conclusions Customized percentiles classify more children as SGA based on their birth weight but do not appear to identify more children with postnatal growth failure than do conventional percentiles.

CiteScore	2.6	2024, Scopus (Elsevier B.V., 2025)
SCImago Journal Rank	0.445	2024, SJR (Scimago Lab, 2025; Data Source: Scopus)
Source Normalized Impact per Paper	0.58	2024, CWTS Journal Indicators (CWTS B.V., 2025; Data Source: Scopus)
Journal Impact Factor	1	2024, Journal Citation Reports (Clarivate, 2025)
5-year Journal Impact Factor	1.4	2024, Journal Citation Reports (Clarivate, 2025)
Journal Citation Indicator	0.44	2024, Journal Citation Reports (Clarivate, 2025)

Journal of Pediatric Endocrinology and Metabolism

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