Impact Factor: 1

Journal

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

View latest issue

Published by

Become an author with De Gruyter Brill

Submit Manuscript Author Information Explore this Subject

About this journal

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

Article formats
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

Your Benefits

Specialized, comprehensive and translational research
High quality peer-review
Rapid online publication of contributions
No submission and publication fee
Listed in major indexing setrvices such as SCIE, PubMed or Scopus
Each article easily discoverable because of Search Engine Optimization (SEO) and comprehensive abstracting and indexing services
Secure archiving by De Gruyter and the independent archiving service Portico
Authors have the option of publishing their articles under the Creative Commons Attribution (CC-BY-4.0) open access license. Open access allows authors to retain copyright and share their findings with the scientific community without restrictions. Authors who belong to an institution that has an agreement with the publisher can publish open access without paying an article processing charge (APC) or at a considerable discount

Requires Authentication Unlicensed
Licensed

Adrenal oncocytoma: an unusual etiology of Cushing’s syndrome in an adolescent female

October 1, 2025

Saba Samad Memon, Manjunath Havalappa Dodamani, Sanjay Chaudhari, Zalak Parmar, Kaushal Patel, Suresh Bhoi, Ravikumar Shah

Download PDF

Objectives This report presents a rare pediatric functional AO causing CS and androgen excess. It aims to discuss the diagnostic challenges of cortisol and DHEAS co-secretion, which may mimic adenomas or carcinomas. It also emphasizes the role of clinical, biochemical, and imaging assessments, as well as histological classification using LWB criteria, and the need for long-term follow-up. Case Presentation A 17-year-old female presented with weight gain, moon facies, cushingoid striae, oligomenorrhea, and acne over six months. Examination showed hypertension, grade I obesity, cushingoid stigmata without virilization. Endocrine evaluation was confirmed ACTH independent CS due to right AO. Conclusions This case illustrates functional AO as a rare cause of adolescent CS with androgen excess. Co-secretion patterns complicate diagnosis, imaging may not be definitive, and long-term follow-up is vital due to uncertain prognosis.
Requires Authentication Unlicensed
Licensed

Noonan syndrome and autoimmune hepatitis: patient report and literature review

September 29, 2025

Aurora Pescini, Nina Tyutyusheva, Giuseppe Indolfi, Chiara Rubino, Federica Sodini, Diego Peroni, Silvano Bertelloni

Download PDF

Objectives Noonan syndrome (NS) is a genetic disease characterized by dysregulation in the RAS/MAPK pathway. Affected individuals present peculiar physical features, short stature, and congenital cardiovascular defects. Autoimmune hepatitis is a chronic immunoinflammatory liver disease. Case presentation A 17-year-old boy with NS due to PTPN11 gene variation and type 1 autoimmune hepatitis (AIH-1; biopsy proven) is described. A literature search on the association between NS and AIH1 showed additional two cases. Conclusions This report highlights the importance of monitoring patients with NS for signs of autoimmune diseases, mainly liver dysfunction. Precise mechanisms linking NS and AIH-1 remain unclear. Anyway, the dysregulation of the RAS/MAPK pathway may be involved. Periodic monitoring of transaminases and prompt evaluation with liver biopsy should be done to optimize diagnosis and treatment of people with NS.
Open Access
Clinical insights of the TBX19 C.856 C>T variant: a case report and literature review on neonatal isolated ACTH deficiency

September 25, 2025

Sirmen Kizilcan Cetin, Zeynep Siklar, Zehra Aycan, Elif Ozsu, Aysegul Ceran, Merih Berberoglu

Download PDF

Objectives Congenital isolated adrenocorticotropic hormone deficiency (IAD) is a rare condition often caused by variants in the TBX19 gene , leading to significant adrenal insufficiency and metabolic disturbances in neonates. Early recognition and treatment are significant for improving outcomes. Although the c.856 C>T (p.Arg286Ter) variant in TBX19 has been identified as pathogenic, little is known about the genotype–phenotype correlation due to the limited number of cases. Case Description We present a male infant diagnosed with neonatal IAD, presenting with hypoglycemic seizures, hypokalemia, and cholestasis within the first 10 h postnatally. There was notable facial dysmorphism, including long philtrum, depressed nasal root, epicanthus, prominent low ears, and mild hypertelorism. A homozygous c.856 C>T (p.Arg286Ter) variant in TBX19 was identified by genetic analysis. After receiving hydrocortisone treatment, the patient showed normal growth and neurodevelopment by the age of 3.2, free from hypoglycemia or recurrent seizures. Conclusions Variants in TBX19 , especially the c.856 C>T mutation, are a predominant cause of neonatal-onset adrenal insufficiency disorder (IAD). Prompt assessment of adrenal function in neonates presenting with hypoglycemia and cholestasis is essential for accurate diagnosis and timely initiation of hydrocortisone replacement therapy. Genetic assessment is essential for improving patient outcomes and advancing our comprehension of the relationship between genotype and phenotype.
Requires Authentication Unlicensed
Licensed

Wolcott–Rallison syndrome due to a novel homozygous missense variation (p.Gly602Val) in the exon 11 of EIF2AK3 gene

September 25, 2025

Bablu Kumar Gaur, Chirag Varshney, Aditi Rawat, Shruti Jain

Download PDF

Objectives To report an unusual case of Wolcott–Rallison syndrome (WRS) due to a novel homozygous missense mutation c.1805G>T (p.Gly602Val) in the Exon 11 of eukaryotic translation initiation factor 2 alpha kinase 3 ( EIF2AK3 ) gene. Case presentation A 2-month-old infant, born to a consanguineous marriage presented to PICU with the manifestation of severe diabetic ketoacidosis (severe hyperglycemia, pH 6.984 + ketones in urine). Genomic sequencing analyses detected a novel homozygous missense variation in the Exon 11 of the EIF2AK3 gene that resulted in the amino acid substitution of valine for glycine at codon 602 (p.Gly602Val). A diagnosis of Wolcott–Rallison syndrome was confirmed. He was treated with fluid therapy and regular insulin infusion. The purpose of this case report is to highlight the novel mutation in the Exon 11 of the EIF2AK3 gene and to raise awareness for screening of pathogenic genetic variants in the EIF2AK3 gene in all patients with neonatal diabetes mellitus. Conclusions In the evaluation of infants with diabetic ketoacidosis, genomic DNA sequencing analyses should be performed in all cases of neonatal diabetes mellitus for early diagnosis of Wolcott–Rallison syndrome.
Requires Authentication Unlicensed
Licensed

Novel MCT8 mutation: diagnostic value of T3/T4 ratio

September 23, 2025

Azzeddine Laaraje, Abdelilah Radi, Soukaina Ait Hmadouch, Rachid Abilkassem

Download PDF

Objectives To highlight the diagnostic value of the T3/T4 ratio in Allan–Herndon–Dudley syndrome (AHDS) through a case report of a novel SLC16A2 mutation. Case presentation We report a 36-month-old boy with severe neurodevelopmental delay and axial hypotonia. Initial thyroid function tests at 10 months showed TSH at 4.77 μIU/mL and T3 at 8.9 pmol/L. Brain MRI was normal. At 28 months, genetic analysis identified a novel hemizygous c.1343_1344dup mutation in the SLC16A2 gene. Follow-up thyroid profiling at 36 months revealed the characteristic AHDS pattern: elevated free T3 (10.20 pmol/L), low free T4 (7.80 pmol/L), and borderline high TSH (5.20 μIU/mL), with a T3/T4 ratio of 1.31 pmol/pmol. Conclusions This case highlights the diagnostic value of the T3/T4 ratio (>0.75 pmol/pmol) as an essential biochemical marker of AHDS in any male infant presenting with unexplained developmental delay and hypotonia. A systematic diagnostic approach including early T3 measurement and T3/T4 ratio calculation should be applied in the initial evaluation of severe developmental delays, even in the presence of normal brain MRI findings, to avoid diagnostic delays in AHDS.
Requires Authentication Unlicensed
Licensed

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

Download PDF

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.
Publicly Available
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

Download PDF
Requires Authentication Unlicensed
Licensed

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

Download PDF

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.
Open Access
Exploratory real-world experience with GLP-1 receptor agonists vs. metformin in youth with new-onset type 2 diabetes: a single-center retrospective study

November 10, 2025

Isaac Tejeji, Troy Zeier, Josephine A. Smith, Nancy T. Chang, Lily C. Chao

Download PDF

Objectives In youth with type 2 diabetes (YT2D), glucagon-like peptide 1 receptor agonists (GLP1) are recommended as adjuncts to metformin (Met) when glycemic targets are not achieved. Early GLP1 use may improve weight and glycemic control, but its efficacy as monotherapy in treatment-naïve YT2D remains unstudied. This exploratory study compares GLP1 and Met monotherapy for glycemic and weight outcomes in newly diagnosed YT2D. Methods This retrospective study analyzed patients<21 diagnosed with T2D between January 2022 and March 2024 at a single center. Data were collected for up to 1 year following diagnosis for patients prescribed GLP1 or Met alone. Records were excluded if additional diabetes medication or bariatric surgery was introduced. A mixed effects linear regression model adjusted for baseline BMI, HbA1c, age, and gender. Results The cohort included 12 GLP1 and 113 Met patients. About 83 % GLP1 patients were female (vs. Met 51 %). All were publicly insured. Median age at diagnosis was 14.8 years. Baseline and final HbA1c were similar: GLP1 (52–36 mmol/mol) and Met (52–44 mmol/mol), with 83 % GLP1 and 67 % Met patients achieving HbA1c≤48 mmol/mol (6.5 %) (p=0.253). Baseline BMI was higher in GLP1 (46.37 vs. Met 35.06 kg/m 2 ). Percentage BMI reduction favored GLP1 (−5.10 %) over Met (−0.59 %). Regression analysis showed GLP1 was associated with greater monthly percentage BMI reduction (β= −1.08 %, p=0.001) but not with HbA1c change (β= −1.1, p=0.308). Conclusions GLP1 led to greater BMI reduction with comparable glycemic control relative to Met in newly diagnosed YT2D.
Requires Authentication Unlicensed
Licensed

Bioelectrical impedance analysis and hormonal assessment in adolescents with pubertal gynecomastia

November 10, 2025

Tarık Kırkgöz, Serkan Bilge Koca

Download PDF

Objectives Gynecomastia is common during adolescence, yet its relationship with body composition remains unclear. This study investigates differences in body composition, fat distribution, and hormonal profiles between adolescents with gynecomastia and healthy controls. Methods This case–control study included 70 adolescents diagnosed with gynecomastia and 67 healthy controls matched for age and Tanner stage. Anthropometric measurements, bioelectrical impedance analysis (BIA), and serum hormonal profiles were assessed. Body composition parameters, including fat mass (FM), fat-free mass (FFM), muscle mass (MM), bone mass (BM), total body water (TBW), muscle-to-fat mass ratio (MFR), and basal metabolic rate (BMR), were measured using the Tanita MC-780 MA device. Results Adolescents with gynecomastia exhibited significantly higher trunk fat mass (trunk fat mass: 20.60 ± 9.48 % vs. 17.64 ± 6.61 %, p=0.0462) and hormonal alterations, including reduced follicle-stimulating hormone (FSH) and free thyroxine (fT4) levels (FSH: 2.7 ± 1.4 vs. 3.5 ± 2.0 IU/L, p=0.0164; fT4 12.4 ± 1.9 vs. 13.1 ± 2.5 p=0.0193). Conclusions These findings highlight the interplay between adiposity and endocrine changes in gynecomastia, warranting further exploration of underlying causative factors.
Requires Authentication Unlicensed
Licensed

Characterization of monogenic diabetes among Sudanese children: a multi-center experience from a population with high consanguinity

November 24, 2025

Samar S. Hassan, Salwa A. Musa, Elisa De Franco, Rebbeca Myers, Racheal Van Heugten, Omer O. Babiker, Areej A. Ibrahim, Ghassan F. MohamadSalih, Amna Ahmed, Jouyriah A. Shatta, Olivia A. Al-Hassan, Kashyap A. Patel, Mohamed A. Abdullah

Download PDF

Objectives Monogenic diabetes (MD) is a group of diabetes subtypes caused by defects in single genes. We report phenotypes and genotypes of MD among Sudanese children. Methods Referred patients (from birth to 18 years of age) with diabetes and a clinical diagnosis of MD to Gaafar Ibnauf Pediatric Tertiary Hospital or the Sudan Childhood Diabetes Center between January 2006 and April 2023 were included. Patients were divided into two groups based on onset of diabetes before six months of age (Group 1, or neonatal diabetes mellitus) or after (Group 2, or non-neonatal diabetes mellitus). Genetic testing was performed for 87 patients at the Exeter Genomics laboratory and for one patient at the University of Cambridge, Metabolic Research Laboratories, UK. Results Out of 88 patients, 50 were from Group 1 and 38 from Group 2. We reported consanguinity in 63.6 % of the cohort and identified disease-causing variants for 18 genes in 43.2 % (Group 1) and 37.5 % (Group 2) of patients from the total cohort. The commonest causes in Group 1 and Group 2 were pathogenic variants in the EIF2AK3 and WFS1 genes, respectively. Pathogenic variants in recently reported novel genes ZNF808, NARS2, and FICD were detected in 8.5 %, 4.2%, and 1.4 % of patients, respectively. Patients with a disrupted WFS1 gene were found to have deafness (92.8 %) and optic atrophy (64 %). While skeletal deformities and liver disease were both seen in 28.6 % of patients with pathogenic variants in the ElF2AK3 gene. Hepatomegaly and hypophosphatemic rickets were uniformly seen in patients with pathogenic variants in the SLC2A2 gene. Generalized subcutaneous tissue loss and acanthosis nigricans were main features in AGPAT2 and INSR variants, respectively. Conclusions Characterization of MD in Sudan showed a predominance of syndromic forms. Genetic studies conducted on consanguineous populations may raise higher probabilities in identifying rare genes.
Requires Authentication Unlicensed
Licensed

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

Download PDF

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.
Open Access
Serum α-Klotho and its association with testosterone in boys with central precocious puberty

November 11, 2025

Eu-seon Noh, Hye Young Jin, Il Tae Hwang

Download PDF

Objectives α-Klotho is an anti-aging protein involved in insulin-like growth factor 1 (IGF-1) signaling and reproductive function. Studies in girls with central precocious puberty (CPP) reported elevated α-Klotho levels that declined with treatment, suggesting a potential biomarker role. Whether boys with CPP exhibit similar patterns remains unclear. Methods This study included 36 boys with CPP and 34 age-matched healthy controls. α-Klotho, gonadotropins, testosterone, IGF-1, and other biochemical parameters were measured at baseline. In 15 patients, measurements were repeated after 6 months of gonadotropin-releasing hormone (GnRH) agonist therapy. Results Boys with CPP showed advanced bone age, higher body mass index standard deviation score (SDS), and elevated luteinizing hormone (LH), follicle-stimulating hormone (FSH), testosterone, and IGF-1 SDS compared with controls. Baseline α-Klotho levels did not differ. Serum α-Klotho correlated strongly with testosterone (r=0.755, p<0.001) and moderately with IGF-1 SDS (r=0.570, p<0.001), but not with gonadotropins. In multiple regression, testosterone (β=0.612, p=0.004) and IGF-1 SDS (β=0.317, p=0.033) were independent predictors of α-Klotho. After 6 months of GnRH agonist therapy, testosterone and gonadotropins decreased significantly, while α-Klotho showed a non-significant decline. Conclusions Unlike girls with CPP, boys did not show elevated or treatment-responsive α-Klotho levels. The correlation with testosterone suggests α-Klotho may reflect androgenic activity in boys rather than serve as a dynamic biomarker. These findings should be considered exploratory, and larger studies with longer follow-up are needed to clarify its role in puberty and potential sex-specific regulation.
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

Download PDF

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.
Requires Authentication Unlicensed
Licensed

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

Download PDF

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
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

Download PDF

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.
Requires Authentication Unlicensed
Licensed

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

Download PDF

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.
Requires Authentication Unlicensed
Licensed

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

Download PDF

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.
Requires Authentication Unlicensed
Licensed

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

Download PDF

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.
Requires Authentication Unlicensed
Licensed

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

Download PDF

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.
Requires Authentication Unlicensed
Licensed

Prevalence of congenital hypothyroidism in infants of mothers with hypothyroidism: a meta-analysis

December 1, 2025

Shree Dheera Yarlagadda, Dhananjaya Melkunte Shanthaiah, Shruthi Ravindra, Vijaya Sarathi

Download PDF

The prevalence of congenital hypothyroidism (CH) in infants of mothers with hypothyroidism has been described but a comprehensive prevalence estimation is lacking. The comprehensive analyses of subtyping, quantum of excess risk in comparison to those born to euthyroid mothers and association with thyroid antibodies are also lacking. This systematic review and meta-analysis aimed to estimate the pooled prevalence of CH in infants born to mothers with hypothyroidism. PubMed database was searched from inception to February 2025 using the search terms’ ((congenital hypothyroidism) and (maternal hypothyroidism)) or (mothers with hypothyroidism)’. Of 2097 initially identified articles, 18 met inclusion criteria, encompassing 11,242 infants of mothers with hypothyroidism. CH diagnoses were classified as transient (TCH) or permanent (PCH). The overall pooled prevalence of CH among infants of mothers with hypothyroidism was 0.003767 (95 % CI: 0.001796–0.005637). TCH accounted for Prevalence of TCH was 0.001867 (95 % CI: 0.000674–0.003060) whereas that of PCH was 0.001429 (0.000386–0.002473). Infants of hypothyroid mothers exhibited significantly increased risk of CH (OR: 3.48, 95 % CI: 1.25–9.65) than those of euthyroid mothers. Maternal thyroid antibody status (TPOAb positivity) did not significantly influence CH prevalence (OR: 0.97, 95 % CI: 0.19–4.81). In conclusion, infants of mothers with hypothyroidism have a substantially higher prevalence (1 in 265) than that reported in the general population. The risk was also 3.5 times higher in the systematic review. However, no association between maternal thyroid antibodies and CH was observed, emphasizing a need to explore alternative pathogenetic mechanisms.
Requires Authentication Unlicensed
Licensed

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

Download PDF

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.
Requires Authentication Unlicensed
Licensed

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

Download PDF

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.
Requires Authentication Unlicensed
Licensed

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

Download PDF

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.
Requires Authentication Unlicensed
Licensed

Implementation and feasibility of a nutrition assessment for recently diagnosed youth with type 2 diabetes

November 25, 2025

Charles Wu, Amber Olkowski, Ashley Blevins, Meredith Thivierge, Dhruva Patel, Sheela N. Magge, Elizabeth A. Brown, Risa M. Wolf

Download PDF

Objectives Nutrition education is important for managing type 2 diabetes (T2D), and how much knowledge is retained after nutrition education for new onset diabetes is challenging to assess. We hypothesize that deployment of a nutrition assessment will reinforce nutrition knowledge in newly diagnosed youth with T2D. Methods An exploratory quality improvement project was conducted to evaluate nutrition knowledge retained following new diagnosis of T2D. We implemented an 18-item nutrition assessment (at the first or second outpatient visit) evaluating nutrition label reading, hypoglycemia/hyperglycemia management, insulin management, and physical activity. Data was collected from the medical record, and descriptive and summary statistics were performed. Results Quizzes were administered to 19 patients and their caregivers, mean patient age 14.9 ± 2.1 years, 68 % female, 68 % NH Black, 79 % publicly insured, with mean HbA1c 11.3 % at diagnosis, and 8.2 % at time of assessment. Mean overall nutrition assessment score was 14/18 (76 %). Patients scored well on questions about insulin (87 % correct) and physical activity (90 % correct) but needed additional reinforcement on questions about general nutrition (61 % correct) and acute and chronic complications of diabetes (64 % correct). Patients who had a lower HbA1c at follow-up scored higher on the quiz (p=0.037). Dietitians commented that the assessments allowed them to gain “quick insight” into patients’ baseline knowledge, which enabled more tailored nutrition education with each patient. Conclusions Implementation of nutrition assessments during comprehensive diabetes visits is feasible and facilitates nutrition education with the patient and/or caregiver in an engaging manner. Reinforcement of nutrition education is critical for type 2 diabetes management and outcomes.
Open Access
Pubertal characteristics, final height, and associated factors in patients with nonclassical congenital adrenal hyperplasia: a single center experience

November 11, 2025

Sema Nilay Abseyi, Seda Erişen Karaca, Zeynep Şıklar, Gizem Şenyazar, Sirmen Kızılcan Çetin, Şafak Demirtaş, Elif Özsu, Zehra Aycan, Merih Berberoğlu

Download PDF

Objectives Nonclassical congenital adrenal hyperplasia (NCCAH) is a mild form of 21-hydroxylase deficiency that can lead to premature pubarche, rapid growth, and reduced final height. However, data on pubertal progression and final height outcomes remain variable. Methods This retrospective study evaluated 27 patients (20 females, seven males) with genetically confirmed NCCAH, followed until final adult height at a single tertiary center between 2000 and 2020. Clinical, hormonal, and genetic parameters were assessed. Patients were grouped according to CYP21A2 mutation status: Group 1 consisted of patients with the c.844G>T (p.Val282Leu) homozygous mutation, Group 2 consisted of patients with the c.844G>T (p.Val282Leu) compound heterozygous mutation, and Group 3 consisted of patients with other mutations. Final height outcomes and pubertal characteristics were analyzed, and predictors of growth and factors affecting pubertal onset were examined using linear regression. Results The mean age at diagnosis was 8.8 ± 3.2 years. CPP and rapidly progressive puberty were observed in a total of 9 cases (at presentation and during follow-up). 7 cases used GnRH analogs. Mean final adult height (FAH) SDS was −0.33 ± 0.98, with no significant differences across mutation groups. Pubertal height SDS and height SDS at diagnosis were strongly correlated with FAH SDS (p=0.0001 and p=0.0009, respectively). Although the mean pubertal onset age did not differ significantly across genotypes, menarche was significantly later in the compound heterozygous group (p=0.006). No significant relationship was found between BA/CA, mutation group, and early puberty with either FAH SDS or FAH-PAH SDS. Conclusions Final height in NCCAH is primarily influenced by height at diagnosis, pubertal height SDS, and pubertal growth dynamics, rather than genotype or age at presentation. Regular auxological monitoring, timely recognition of pubertal changes, and individualized treatment decisions are critical for optimizing adult height outcomes.
Requires Authentication Unlicensed
Licensed

The impact of hepatic steatosis on epicardial adipose tissue in obese individuals

November 11, 2025

Gül Trabzon, Fatma Öztürk Keleş, Osman Fırat Çalışkan, Şükrü Güngör, Nuriye Yarar, Ufuk Utku Güllü

Download PDF

Objectives This study aimed to evaluate the relationship between epicardial adipose tissue (EAT) thickness and hepatic steatosis in pediatric patients with obesity, exploring EAT as a potential biomarker for cardiovascular risk. Methods A retrospective analysis was conducted on children with obesity aged 10–18, including 48 patients with NAFLD and 50 age- and sex-matched controls with no liver steatosis. EAT thickness was measured using echocardiography, and liver fat was assessed via ultrasound. Correlations between EAT, metabolic parameters, and anthropometric measurements were examined. Results EAT thickness was significantly more excellent in the NAFLD group than in controls (p<0.001), with an optimal cutoff of >1.6 mm predicting hepatic steatosis with 98 % sensitivity and specificity. Positive correlations were found between EAT thickness, body mass index (BMI) Z-scores, and liver steatosis stages. Additionally, structural cardiac changes, such as increased RVDD and IVSd, were observed in the NAFLD group, suggesting early signs of cardiac remodeling. Conclusions EAT thickness may be a non-invasive biomarker for identifying cardiovascular risk in pediatric patients with obesity and NAFLD. Early detection of elevated EAT could guide interventions to reduce obesity-related cardiovascular risk in this population.
Requires Authentication Unlicensed
Licensed

A rare metabolic cause of premature ovarian insufficiency: case report of transaldolase deficiency

December 17, 2025

Özge Köprülü, Esra Er

Download PDF

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.
Open Access
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

Download PDF

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.
Requires Authentication Unlicensed
Licensed

Phosphoglucomutase 1 deficiency misdiagnosed as Laron syndrome

October 17, 2025

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

Download PDF

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.
Requires Authentication Unlicensed
Licensed

Role of hyperandrogenism on disordered eating behaviors in adolescents with PCOS and interplay with insulin resistance

November 11, 2025

Nazan Kaymaz, Özlem Kara, Hande Şirin, Tolga Kasap, Mehmet Erdem Uzun

Download PDF

Objectives This study examines the roles of hyperandrogenism (HA) and insulin resistance (IR) in eating behaviors among adolescents with polycystic ovary syndrome (PCOS). Methods Fifty adolescents with PCOS (mean age 16.04 ± 1.46 years, BMI 27.55 ± 6.34) were assessed. IR was evaluated using HOMA-IR, and eating behaviors were measured with the Eating Attitudes Test (EAT) and the Eating Disorders Examination Questionnaire (EDE-Q). Results IR was present in 46 % of participants, with obesity affecting 71 % of those with IR. While EAT scores showed no significant association with BMI, HA, or IR, the IR group had higher EDE-Q Total scores (p=0.05), particularly in Shape Concern (SC, p=0.003) and Weight Concern (WC, p=0.03). HA primarily influenced WC (p=0.04). BMI correlated more strongly with WC (r=0.579, p<0.001) than IR. ROC analysis indicated BMI>27.5 (AUC=0.967) and HOMA-IR>3.1 (AUC=0.961) as strong predictors of disordered eating. Conclusions BMI and HOMA-IR are more reliable than HA for identifying disordered eating behaviors in PCOS adolescents. The EDE-Q is recommended for effective screening, emphasizing the need to monitor BMI and HOMA-IR in this population.
Requires Authentication Unlicensed
Licensed

The relationship between FSTL-1 (Follistatin-related protein 1), FAM19A5 (family with sequence similarity 19, member A5) and CTRP-6 (C1q/TNF-related protein 6) levels and metabolic parameters in overweight children

November 10, 2025

Fatmagül Can, Veysel N. Baş, Fatma E. Koçak, İlknur Elifoğlu

Download PDF

Objectives There has been a growing rate of obesity among children and adolescents in recent years. Understanding the molecular mechanisms is crucial for grasping the onset and progression. Adipose tissue is recognized for its role in endocrine functions, releasing adipokines that play a vital role in the metabolic disruptions linked to obesity. Given the involvement of adipokines such as FSTL-1 (Follistatin related protein 1), FAM19A5 (Family with Sequence Similarity to 19 Member A5), and CTRP-6 (C1q/Tumor Necrosis Factor Related Protein 6) in this condition, the primary goal of our study was to explore the connection between these adipokines, metabolic parameters, anthropometric data, and obesity. Methods Seventy-nine children aged 0–10 years with exogenous obesity and 88 healthy children were included in the study. Adipokine levels were measured using ELISA. The relationship between biochemical parameters and anthropometric data was also evaluated. Results CTRP6 was 6.11 (4.95–8.13) ng/mL in the obese group and 2.79 (1.73–4.58) ng/mL in the healthy control group (p<0.0001); FSLT1 was 157.7 (130.5–216.5) ng/mL in the obese group and 187.4 (151.8–289.6) ng/mL in the healthy control group (p=0.0003), FAM19A5 was 590.8 (476.4–703.9) ng/L in the obese group and 736.8 (491.8–1,719.0) ng/L in the healthy control group (p=0.0003). Conclusions CTRP6 levels were found to be higher in obese children than in the healthy control group, while FSLT1 and FAM19A5 levels were found to be lower. Changes in the levels of these adipokines may play important roles in obesity and related conditions.
Requires Authentication Unlicensed
Licensed

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

Download PDF

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.

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)
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 of Pediatric Endocrinology and Metabolism

Overview

About this journal

Your Benefits

Ahead of Publication / Just Accepted

Issues

Special issues

Ranking

Submit

Editorial

Abstracting and Indexing

Supplementary Materials

Supplementary Materials

Topics

Topics

External Links

Bibliographic data