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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

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

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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

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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

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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.
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Pitfalls in the diagnosis of carnitine palmitoyltransferase 1 deficiency

September 29, 2025

Sarah C. Grünert, Urs Berger, Friederike Hörster, Kathrin Schwarz, Eva Thimm, Ute Spiekerkoetter, Dorothea Haas, Anke Schumann

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Objectives Carnitine palmitoyltransferase 1 A (CPT1A) deficiency is an ultra-rare autosomal recessive disorder of the carnitine cycle caused by biallelic pathogenic variants in the CPT1A gene. It mainly presents with a hepatic phenotype and is a target disease of newborn screening programs worldwide. Disease-specific and diagnostic abnormalities of CPT1A deficiency comprise elevated concentrations of free carnitine as well as an elevated metabolite ratio [C0/(C16 + C18)] in blood, but the ideal sample material has been a matter of debate. Methods We present biochemical data of five CPT1A deficient patients, of whom four were diagnosed by newborn screening from dried blood spots. Results Our cases demonstrate that acylcarnitine profiles and especially concentrations of free carnitine can be normal in plasma in infants with CPT1AD at confirmation diagnosis after screening and during follow-up. Even the [C0/(C16 + C18)] ratio yielded normal results in some cases. Conclusions Our data show, that dried blood is the preferred sample material for the diagnosis of CPT1A deficiency as it is superior to serum/plasma with respect to diagnostic sensitivity and reliability in quantification of the ratio [C0/(C16 + C18)]. CPT1A deficiency can be missed, if the analysis is only performed in serum or plasma, and confirmatory diagnostics in serum or plasma after screening can be false negative.
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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

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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.
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Causal analysis of uterine artery pulsatility index-related proteins and the risk of precocious puberty in girls: a Mendelian randomization study

September 26, 2025

Yi Gao, Fengfeng Qi

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Objectives Precocious puberty in girls is a condition marked by the early onset of secondary sexual characteristics, with vascular factors like uterine artery pulsatility index having been suggested as potential indicators. Methods We performed Mendelian randomization (MR) analysis using genetic instruments from large-scale genome-wide association studies (GWAS) datasets, including ebi-a-GCST008403, ukb-a-250, and ukb-b-11971, to evaluate the relationship between arterial stiffness and precocious puberty. Exposure and outcome data were sourced from the GWAS Catalog, eQTLGen, and the R11_E4_PREPUB dataset. The TwoSampleMR package was employed to assess causal relationships, with several MR methods applied, including inverse variance weighted, MR Egger, weighted median, and mode-based methods. Results Our analysis of arterial stiffness using ebi-a-GCST008403, ukb-a-250, and ukb-b-11971 datasets did not show a statistically significant causal relationship with precocious puberty. The IVW method showed an OR of 0.707 (p=0.885) for arterial stiffness, indicating no reliable association. The investigation into MMP2 also yielded non-significant results across all methods, with an OR of 0.778 (p=0.330) from the IVW method. However, the analysis of MMP9 revealed a significant association with precocious puberty, showing an OR of 3.89 (p=0.004) using the IVW method, and an OR of 3.96 (p=0.027) from the Weighted Median method, indicating a strong positive effect of MMP9 on precocious puberty risk. Conclusions Our findings suggest that while arterial stiffness and other MMPs do not have a significant causal role, MMP9 may significantly increase the risk of precocious puberty in girls.
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

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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.
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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

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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.
Open Access
Continuous glucose monitoring evidence of celiac disease in type 1 diabetes

September 25, 2025

Jessica L. Ruiz, Lisa A. Asaro, Allison S. Bernique, Elizabeth Healey, Jocelyn A. Silvester, David Wypij, Michael S.D. Agus, Christina M. Astley

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Objectives Quantitative glycemic metrics are needed to identify undiagnosed celiac disease in type 1 diabetes and reduce delays in celiac diagnosis. Celiac enteropathy drives malabsorption that increases the risk of prandial insulin-glucose mismatch and hypoglycemia. We assessed if children with type 1 diabetes and celiac disease have lower post-prandial glucose levels preceding celiac diagnosis vs. those without celiac disease, leveraging continuous glucose monitoring (CGM) data and a computational meal annotation algorithm. Methods In this retrospective cohort study, children with type 1 diabetes <12 months duration using CGM, positive celiac serologies and biopsy confirmed celiac disease (n=16) were matched 1-to-4 to those with negative celiac serologies (n=60). Meals were computationally annotated in the 30-day window before serologies. Differences in post-prandial trough glucose and other prandial glycemic outcomes were assessed via mixed models. Results Undiagnosed celiac disease was associated with a lower glucose rise from meal start to peak vs. no celiac disease (−8.9 %, 95 % CI, −14.9–−2.5 %, p=0.009) and, during the first meal of the day, a lower fall from peak to trough (−9.3 %, 95 % CI, −16.5 %–−1.5 %, p=0.02). There was no significant association between celiac disease and trough glucose, meal hypoglycemia or time hypoglycemic. Conclusions Computational analysis revealed that blunted prandial glycemic trajectories, not hypoglycemia, are associated with undiagnosed celiac disease in children with type 1 diabetes using CGM. These findings challenge current guidelines, and future studies should validate and integrate these glycemic biomarkers into a CGM-based model for real-time prediction of celiac disease in type 1 diabetes.
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Novel MCT8 mutation: diagnostic value of T3/T4 ratio

September 23, 2025

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

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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.
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Real-world effectiveness of sodium glucose transporter 2 inhibitors among youth with type 2 diabetes

September 17, 2025

Michal Timkovski, Dhruva Patel, Elizabeth A. Brown, Bliss Magella, Amy S. Shah, Risa M. Wolf

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Objectives Clinical trials of sodium-glucose transporter 2 inhibitors (SGLT2i) in youth with type 2 diabetes (T2D) showed significant improvement in HbA1c% and fasting plasma glucose, yet there is limited real-world data on their use. This study sought to assess real-world use and effectiveness of SGLT2i medications in management of T2D in a diverse cohort of youth. Methods This retrospective study analyzed youth newly prescribed a SGLT2i for management of T2D at two academic pediatric diabetes centers. Change in HbA1c, BMI, and insulin use from baseline to follow-up were evaluated for those taking SGLT2i added to their background diabetes treatment. Wilcoxon signed-rank test and McNemar’s test were used to compare paired continuous and categorical variables, respectively. Results A total of 81 patients with youth-onset T2D (mean age 17.3 years (SD 1.93), 63 % female, 51 % non-Hispanic Black, 13 % Hispanic, 33 % with private insurance) were prescribed SGLT2i. Among the 61 (75 %) reporting adherence or partial adherence at a median follow-up of 98 days, median HbA1c decreased from 8.4 to 7.1 % (p<0.001). There was a small but significant reduction in mean BMI Z-score from baseline to follow-up (2.66 to 2.57, p=0.0004). The proportion of patients prescribed basal insulin decreased from 44 to 34 % (p=0.03), and prandial insulin from 23 to 13 % (p=0.01). Conclusions Real-world use of SGLT2i in youth with T2D is associated with decreased HbA1c levels and lower BMI Z-score and may also reduce use of insulin for youth with T2D.
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Immunogenetic profiling of type 1 diabetes in Jordan: a case-control study on HLA-associated risk and protection

September 17, 2025

Rasha Odeh, Abeer Alassaf, Hussam Alhawari, Hanan Jafar, Abdalla Awidi, Farah Bani Hani, Malik Sallam

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Objectives To comprehensively investigate the association between HLA class II alleles and haplotypes with type 1 diabetes mellitus (T1DM) susceptibility in a Jordanian population. Methods In this case-control study, 205 patients with clinically confirmed T1DM and 99 ethnically matched healthy controls were genotyped for HLA-DRB1 , DQA1 , and DQB1 loci. Autoantibodies and thyroid function were evaluated. Haplotype frequencies were compared using the BIGDAWG R package, with odds ratios (ORs), 95 % confidence intervals (CIs), and false discovery rate (FDR) correction. Results HLA-DRB1*03 : 01 (OR=4.94, p<0.001), DRB1*04 : 02 (OR=3.87, p=0.003), and DRB1*04 : 05 (case-only; p=0.002) were associated with T1DM. Strong associations were also observed for DQA1*05 : 01 (OR=6.61, p<0.001) and DQB1*02 : 01 (OR=5.70, p<0.001). Protective effects were identified for DRB1*07 : 01 , DRB1*15 : 02 , DQA1*05 : 05 , and DQB1*03 : 01 (all FDR<0.05). Among haplotypes, DR3∼DQ2 conferred the greatest risk (OR=5.40, p<0.001), while DRB1*11 : 04∼DQA1*05 : 05∼DQB1*03 : 01 was protective (OR=0.25, p=0.004). DRB1*03 : 01 was associated with GAD65 autoantibodies and celiac serology. DQA1*03 : 01 and DQA1*05 : 01 were linked to thyroid autoantibodies. No significant differences in age or HbA1c at diagnosis were observed across HLA alleles. Conclusions HLA class II variation was strongly associated with T1DM in Jordan, with DR3∼DQ2 and DR4 haplotypes driving susceptibility and DRB1*07 , DRB1*15 : 02 , and DQB1*03 : 01 conferring protection, reflecting global patterns while highlighting region-specific features. These findings support incorporating HLA genotyping into T1DM risk assessment and suggest shared genetic links with other autoimmune diseases.
Open Access
Impact of race and delayed adoption of diabetes technology on glycemia and partial remission in type 1 diabetes

September 17, 2025

Adriana Chader-Gata Garcia, Komalpreet Kaur, Rashida Talib, Parissa Salemi, Joanna Fishbein, Benjamin Udoka Nwosu

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Objectives Continuous glucose monitors (CGM) are the mainstay of glucose monitoring in type 1 diabetes (T1D). However, the impact of race/ethnicity and the timing of CGM adoption following T1D diagnosis is unclear. We examined the effect of race/ethnicity and CGM adoption on glycemia and partial remission (PR) in T1D. Methods A 24-month longitudinal retrospective cohort study of youth with T1D who used Dexcom CGM G5/G6 between 2018 and 2022 was conducted. Subjects were classified as non-Hispanic White (NHW) or Other (Asian, Black/African American, Hispanic/Latino, or other). Glycemia was measured as %change in hemoglobin A1c (A1c) and time in range (TIR) from baseline to 24 months. PR was denoted as an insulin-dose-adjusted A1c (IDAA1c) value of ≤9. The statistical approach included the paired t-test, the Wilcoxon signed-rank test, and mixed effects models for repeated measures. Results Early CGM adoption occurred in 90 % (61/68) of NHW subjects vs. 63 % (43/68) of the Other, p=0.0003. Early CGM adoption was associated with improved glycemia and PR as marked by a significantly greater %decrease in A1c, p=0.0008, and IDAA1c, p=0.0003, at 24 months following CGM adoption. Temporal trends in A1c and IDAA1c were significantly lower among NHW subjects, p<0.0001, and the probability of PR was significantly greater, p<0.0001. Early CGM adoption conferred a greater probability of PR than late CGM adoption, p<0.0001. Conclusions Early adoption of diabetes technology should be accelerated in all children with T1D, particularly minority children, to reduce hyperglycemia, promote PR, and close the gap in diabetes care and complications in the United States.
Open Access
Spatiotemporal associations between incidence of type 1 diabetes and COVID-19 vaccination rates in children in Germany – a population-based ecological study

September 16, 2025

Clemens Kamrath, Alexander J. Eckert, Sarah Lignitz, Nikolas Hillenbrand, Axel Dost, Katharina Warncke, Daniela Klose, Karina Grohmann-Held, Reinhard W. Holl, Joachim Rosenbauer

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Objectives The incidence of type 1 diabetes (T1D) in children increased during the first two years of the COVID-19 pandemic and declined thereafter. It is not known whether the decline is associated with COVID-19 vaccination rates in children. This study investigates whether COVID-19 vaccination rates are associated with T1D incidence in children. Study design Population-based ecological study of children with new-onset T1D in the years 2022 and 2023 from the German Prospective Diabetes Registry. COVID-19 vaccination rates (VR) for 2022 were obtained from the Digital Vaccination Rate Monitoring-Project of the Robert-Koch-Institute. Methods Spatial Spearman correlation analysis between period-averaged COVID-19 VR and T1D standardized incidence ratios (SIR) per county were used for the year 2022. Bayesian conditional autoregressive (CAR) Poisson models, including a time lag of 0–12 months between COVID-19 VR and T1D SIR, were used to assess their association. Results Data of 6,736 children and adolescents with new-onset T1D in the years 2022 and 2023 and of 4,208,377 vaccinated children aged 5–17 years across 336 German counties were analyzed. Neither the month-averaged spatial analysis (5–11 years: r=−0.029 [95%CI -0.136; 0.079]; 12–17 years: r=0.031 [95%CI -0.077; 0.138]) nor the spatiotemporal CAR models including time shifts of 0–12 months showed significant correlations between T1D SIR and COVID-19 VR. Conclusions This study found no significant associations between childhood COVID-19 vaccination rates and the subsequent incidence of type 1 diabetes over the next 12 months. Further research is needed to investigate the relationship in younger children.
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Cardiometabolic outcomes in girls with premature adrenarche: a longitudinal analysis of typical vs. exaggerated presentations

September 15, 2025

Gülcan Seymen, Murat İmal, Şükrü Hatun

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Objectives To evaluate cardiometabolic risk factors in girls with premature adrenarche (PA), with a specific focus on outcomes based on adrenal androgen levels (typical vs. exaggerated adrenarche). Methods Eighty-four girls with PA were followed from diagnosis to mid-puberty. Clinical, biochemical, and hormonal parameters were assessed at both time points. Participants were stratified based on dehydroepiandrosterone sulfate (DHEAS) levels: typical PA (40–130 μg/dL) and exaggerated adrenarche (>130 μg/dL). Age- and sex-matched controls (n=58) were included for pubertal comparisons. Results At baseline, 25 % of PA girls were overweight/obese, and 22 % had elevated HOMA-IR. Exaggerated adrenarche was present in 19 % of subjects. By puberty, overweight/obesity prevalence rose to 33.3 %, with significant increases in fasting insulin, HOMA-IR, and declines in insulin sensitivity indices (QUICKI, FGIR). Comparisons with controls revealed significantly higher BMI, waist circumference, and insulin resistance among PA girls. However, there were no significant metabolic differences between exaggerated and typical PA groups, except for a higher waist circumference in the exaggerated group. Conclusions Elevated mid-childhood DHEAS does not independently predict worsened metabolic outcomes by puberty. Baseline adiposity, not androgen level, is the principal determinant of insulin resistance and cardiometabolic risk in PA. Lifestyle interventions targeting weight management are crucial in mitigating future risk.
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Annual case counts and clinical characteristics of pediatric and adolescent patients with diabetes in Kenyatta National Hospital, Nairobi, Kenya. A 14 year retrospective study

September 15, 2025

Phoebe Wamalwa, Lucy Mungai, Paul Laigong, Anjumanara Omar, Prisca Amolo

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Objectives There is little data on prevalence, incidence rate and clinical characteristics on diabetes amongst the pediatric and adolescent group in sub-Saharan Africa. Therefore, this study aimed to document annual case counts, describe clinical characteristics, and assess loss to follow-up among pediatric and adolescent patients with diabetes at Kenyatta National Hospital. Methods This was a hospital-based retrospective, descriptive study carried out at Kenyatta National Hospital, Pediatric Endocrinology Unit, between January 2008 and December 2021 amongst diabetic patients aged 25 years and below. Data was analyzed using Statistical Package for Social Science (SPSS) version 23.0. Results Type 1 diabetes was the leading form of diabetes at 99.3 % (n=288). Most, 56.3 %, of cases of type 1 diabetes got diagnosed within the ages of 6–18 years, majority being 6–11 years. Most patients, 90.2 % presented in diabetic ketoacidosis (DKA) at initial diagnosis. There was a sustained increasing trend in type 1 diabetes with a notable dip in hospital visitations during covid time, the year 2020. Patients with type 1 diabetes took an average of 2.5 months and a median interval of 18 days from symptom onset to diagnosis. A third of the cases of type 1 diabetes, 31.25 %, were lost to follow up. Conclusions The increasing cases of type 1 diabetes with delayed diagnosis require allocation of more resources and increased awareness creation. Measures need to be put in place to manage chronic conditions during pandemics. Hospital-based tracking system is required to prevent loss to follow up cases.
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Dual molecular genetic diagnosis with combined malonic and methylmalonic aciduria (CMAMMA): implications of coexisting genetic disorders on clinical presentation

September 11, 2025

Melike Ersoy, Zehra Yavas Abali, Esra Deniz Papatya Cakir, Soner Erdin, Kanay Yararbas, Saygin Abali

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Objectives Combined malonic and methylmalonic aciduria (CMAMMA) is an inherited metabolic disorder caused by ACSF3 variants leading to malonyl-CoA synthetase (MCS) deficiency. Despite its well-defined genetic basis, the clinical spectrum of CMAMMA remains highly variable. Case presentation This study reports six patients from three unrelated families, aged 12 days to 30 years, presenting with heterogeneous clinical manifestations. Exome sequencing (ES) identified a homozygous ACSF3 variant, c.1470G>C [p.(Glu490Asp)], in five patients, and a novel variant, c.1145T>C [p.(Leu382Pro)], in one patient. Notably, in each family’s index case, ES revealed additional pathogenic variants consistent with a dual molecular diagnosis: a homozygous CHRNG variant in one patient; compound heterozygous BTD variants in two siblings, confirming biotinidase deficiency; and a novel CDK10 frameshift variant, c.520_521del [p.(Lys174Glyfs*34)], in another patient. Half of the patients with CMAMMA demonstrated mild to moderate developmental delay. Notably, the sibling with both CMAMMA and biotinidase deficiency exhibited developmental delay, whereas the sibling with isolated CMAMMA had normal development. Symptomatic individuals showed clinical improvement following dietary protein restriction and carnitine supplementation. Conclusions These findings highlight that CMAMMA may cause developmental delay, emphasizing the importance of early diagnosis and treatment. Furthermore, in patients with atypical features, high-throughput sequencing technologies offer a comprehensive approach to identifying additional pathogenic variants in genes beyond ACSF3.
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Family experience with individuals of different ages and clinical presentations diagnosed with DI: do familial DI cases tolerate polyuria better?

September 10, 2025

Hakan Birinci, Emrullah Arslan, Tansu Değirmenci, Bumin N. Dündar

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Objectives Familial neurohypophyseal diabetes insipidus (DI) is a rare genetic disorder caused by vasopressin deficiency due to AVP gene mutations. This case report describes the genetic findings and clinical profiles of three generations within a family affected by hereditary central DI and managed with desmopressin. Case presentation An 8-month-old male infant was admitted due to persistent polyuria and polydipsia that had been present since birth. History revealed a daily fluid intake of 7,200 mL and required 13 full diapers. The water deprivation test revealed a serum osmolality >300 mOsm/kg with a concurrently low urine osmolality (<300 mOsm/kg), confirming the diagnosis of DI. Desmopressin therapy was initiated for the patient. Using next-generation sequencing, a heterozygous variant c.329G>A (p.Cys110Tyr) was detected in the AVP gene. Following our patient’s diagnosis, we evaluated first cousin once removed (on the maternal side) for similar symptoms. Upon identification of the heterozygous AVP variant via next-generation sequencing, desmopressin treatment was started. The same variant was detected in our patient’s grandfather, mother, aunt, great-uncle, and first cousin once removed. Polyuria and polydipsia were present in all patients included in our case series. The grandfather and great-uncle, who were initially diagnosed, experienced delayed diagnosis and later developed renal complications. In contrast, the following generations of the family were diagnosed early. Conclusions In familial cases, parents are often familiar with the clinical features of DI, allowing them to ensure adequate hydration, manage polyuria, and minimize the risk of dehydration. However, early diagnosis reduces the risk of long-term complications and enables effective family screening, allowing identification of previously unrecognized mild cases.
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A disease that is difficult to predict: regional distribution and phenotypic, histopathological and genetic findings in McArdle disease

September 9, 2025

Bahattin Erdoğan, Gonca Kılıç Yıldırım, Ezgi Susam, Aziz Serhat Baykara

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Objectives McArdle disease (also known as glycogen storage disease type V) is a rare metabolic myopathy that is caused by myophosphorylase deficiency, leading to impaired glycogenolysis in skeletal muscles. This study explored the clinical, histopathological, and genetic landscape of McArdle disease in a regional cohort from Turkey, emphasizing diagnostic and management challenges. Methods and Results A retrospective analysis was conducted on 350 muscle biopsies performed between 2013 and 2024 in a tertiary care center. Seven patients (2.1 %) were diagnosed with McArdle disease. The clinical features included exercise intolerance (100 %), muscle pain (75 %), and the second wind phenomenon (62.5 %). Two patients presented with acute renal failure due to rhabdomyolysis with myoglobinuria, leading to metabolic acidosis. Histopathological findings revealed glycogen accumulation in subsarcolemmal vacuoles and absent myophosphorylase activity in all cases. Genetic analysis identified five distinct PYGM pathogenic variants, including c.808C>T (p.Arg270Ter) and c.2262del (p.Lys754fs). These findings highlight the phenotypic and genetic heterogeneity of McArdle disease. Conclusions McArdle disease remains underdiagnosed due to its variable clinical presentation and limited access to advanced diagnostic tools. This study underscores the importance of a multidisciplinary approach that integrates clinical assessment, muscle biopsy, and molecular analysis. Increased awareness and training among healthcare providers are critical for early recognition and intervention. Future research should focus on expanding genetic databases and exploring targeted therapies to improve outcomes in this challenging condition.
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Investigation of the association between nitric oxide synthase gene variants and NAFLD in adolescents with obesity

September 8, 2025

Sevde Hasanoğlu Sayın, İbrahim Kandemir, Yasemin Oyacı, Shahri Khudiyeva, Memduh Şahin, Aylin Yetim Şahin, Sacide Pehlivan

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Objectives The present study aimed to investigate whether nitric oxide synthase ( NOS ) enzyme gene variants ( iNOS rs1060826, eNOS rs1799983, eNOS 27-bp VNTR) play a role in the etiopathogenesis of nonalcoholic fatty liver (NAFLD) in adolescents. Methods This cross-sectional study was conducted with obese adolescents [body mass index (BMI) standard deviation score (SDS) ≥2] aged 10–19 years (104 individuals) and age- and sex-matched healthy individuals (64 individuals) whose presence of NAFLD was determined by ultrasound. The iNOS rs1060826 and eNOS rs1799983 variants were performed by Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) method, and the eNOS 27-bp VNTR variant was analyzed using the PCR method. The genotypes detected were compared between the patient group and the healthy controls and with the clinical parameters of the patients. Results iNOS rs1060826 and eNOS rs1799983 were independent of obesity, whereas eNOS 27-bp VNTR was independent of NAFLD. However, in the obese group, especially in those with NAFLD (+), the iNOS rs1060826 GG genotype was found to be associated with lower diastolic blood pressure (DBP) (p=0.011). Compared with the clinical parameters, insulin resistance (HOMA-IR) was higher in those carrying the eNOS rs1799983 gene variant-TT genotype in the NAFLD (+) group (p=0.051). Conclusions While the three functional gene variants of the NOS enzyme did not show a significant difference in terms of genotype between patients and healthy controls, it was determined that both the iNOS rs1060826 gene variant-GG allele was associated with low DBP and HOMA-IR may be higher in those carrying the eNOS rs1799983 gene variant TT genotype in NAFLD (+) patients. The iNOS rs1060826 polymorphism is a potentially important genetic variant that may influence DBP regulation through its effects on nitric oxide production.
Open Access
Compound heterozygous ROBO1 gene variants in a neonate with congenital hypopituitarism, dysmorphic features and midline abnormalities: a case report and review of the literature

September 1, 2025

Panagiota Markopoulou, Amalia Sertedaki, Eirini Nikaina, Maria Binou, Ioanna Farakla, Tania Siahanidou, Christina Kanaka-Gantenbein

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Objectives The majority of congenital hypopituitarism (CH) cases remain genetically unexplained. The transmembrane receptor Roundabout-1 ( ROBO1 ), activated through interaction with SLIT-family proteins, plays crucial role in axonal guidance, branching, targeting, and midline axonal crossing. ROBO1 variants have been associated with pituitary stalk interruption syndrome and highly variable pituitary-phenotypes, ranging from isolated growth hormone deficiency (IGHD) to combined pituitary hormone deficiency (CPHD). This study aimed to investigate the genetic basis of CH in a newborn and to review current evidence linking ROBO1 variants with CH. Case presentation We report the presence of two ROBO1 variants in compound heterozygosity, the NM_002941:c.2914G>A, p.(Ala972Thr) and the novel NM_002941:c.3757G>A, p.(Val1253Met), as well as the identification of the novel NOTCH3 variant NM_000435:c.1505C>T, p.(Ser502Phe) and the novel GPR161 variant NM_001375883.1:c.1117C>T, p.(His373Tyr), in a newborn with CPHD, dysmorphic features and midline abnormalities. Conclusions This case, together with accumulating evidence, supports ROBO1 as a potential causative gene for CH. ROBO1 should be considered during genetic evaluation of patients with CH and midline abnormalities. The co-occurrence of NOTCH3 and GPR161 variants raises the possibility of an oligogenic or multigenic etiology. The cross-talk between ROBO/SLIT and NOTCH signaling pathways may contribute to the complex phenotype observed and warrants further functional investigation.
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Atypical pediatric presentation of hyperparathyroidism: CDC73 gene mutation and parathyroid carcinoma

August 25, 2025

Emel Hatun Aytaç Kaplan, Mehmet Çakmak, M. Banu Yilmaz Özgüven, Şeyma Tuna Şentürk, Hasan Önal, Serdar Bozlak, Zümrüt Kocabey Sütçü

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Objectives Parathyroid carcinoma is the rarest etiological cause of primary hyperparathyroidism and is exceedingly rare in the pediatric population. Clinical manifestations include severe hypercalcemia, pathological fractures, and bone pain. Diagnosis is typically established through surgical intervention and histopathological examination; however, genetic analyses can also support the diagnosis. Case Presentation A 10-year-10-month-old female presented with fatigue, leg pain, and a pathological fracture in her left forearm. Laboratory tests revealed hypercalcemia, hypophosphatemic hypercalcemia, and hyperparathyroidism. Imaging studies identified a 17 mm hypervascular hypoechoic lesion in the left paratracheal area. Surgical intervention included left inferior and superior parathyroidectomy and left thyroidectomy. Histopathology showed atypical parathyroid neoplasia and thyroid hyperplasia. Genetic testing revealed a pathogenic CDC73 mutation (p.E48*, c.142G>T). The patient is under regular follow-up for hyperparathyroidism-jaw tumor syndrome (HPT-JT) and parathyroid carcinoma. Conclusions This case highlights the importance of early genetic testing in pediatric primary hyperparathyroidism (PHP), particularly for detecting CDC73 gene mutations associated with hyperparathyroidism-jaw tumor syndrome (HPT-JT). Early diagnosis allows for timely intervention, surgical planning, and long-term surveillance to manage potential complications such as parathyroid carcinoma and ossifying fibromas.
Open Access
Pseudohypertriglyceridemia as a clue: clinical and genetic spectrum of glycerol kinase deficiency in three pediatric cases

August 1, 2025

Cemre Kara, Pınar Kılıçdağı Çanakcı, Engin Köse, Şule Haskoloğlu, Fatma Tuba Eminoğlu

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Objectives Glycerol kinase deficiency (GKD) is a rare X-linked metabolic disorder caused by pathogenic variants in the GK gene. It can be present in either isolated or complex forms and often mimics primary hyperlipidemia, leading to diagnostic challenges and unnecessary treatment. This study aims to highlight the phenotypic variability and diagnostic features of GKD through a case series. Case Presentation We describe three pediatric patients diagnosed with GKD. Two siblings with isolated GKD presented with persistent, asymptomatic hypertriglyceridemia, confirmed by glyceroluria and genetic testing revealing a hemizygous c.213_214delAT (p.Cys72Ter) mutation. The third patient, diagnosed with complex GKD, presented in infancy with multisystem involvement, including immunodeficiency, hypotonia, splenic abscesses, and elevated and creatine kinase levels. Genetic analysis revealed a 6.9 Mb contiguous deletion spanning Xp21.2–Xp11.4. In all cases, elevated triglyceride levels were unresponsive to therapy, and serum samples lacked lipemic appearance. Lipid-lowering treatments were discontinued following diagnosis, with no adverse outcomes. Conclusions This case series underscores the clinical and genetic heterogeneity of GKD. Urinary glycerol analysis and the absence of serum lipemia are key diagnostic clues. Early recognition is essential to prevent misdiagnosis and guide appropriate management, particularly in treatment-resistant hypertriglyceridemia.
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Phenotypic variation among four members in a family with DAX1 deficiency

July 29, 2025

Yuko Seki, Haruna Kakimoto, Izumi Tamada, Shozo Oku, Satoshi Morita, Minako Tokunaga, Michiyo Mizota, Naoko Amano, Noboru Uchida, Tomonobu Hasegawa, Yasuhiro Okamoto

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Objectives To describe four members of a family with DAX1 deficiency caused by a novel NR0B1 variant. Case presentation All family members carried a novel hemizygous NR0B1 variant, p.Gln318Alafs*71. The elder brother, aged 13 years, developed an adrenal crisis at the age of 3 years. The third brother, aged 4 years, showed a relatively low cortisol response to the short Synacthen test, but exhibited no clinical signs of adrenal insufficiency. The youngest brother developed an adrenal crisis at the age of 16 days. Additionally, their 14-year-old cousin was diagnosed with DAX1 deficiency based on skin pigmentation and family history. Conclusions Despite carrying the same NR0B1 variant, the initial symptoms and age of adrenal insufficiency onset varied among the four members of this family. Male members with a family history of DAX1 deficiency should be confirmed genetically as possible.
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A case of JAGN1 mutation presenting with atypical diabetes and immunodeficiency

July 21, 2025

Céline De Cuyper, Willem Staels, Siel Daelemans, Jesse Vanbesien, Elise Nauwynck, Inge Gies

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Objectives To describe the case of a young girl with severe congenital neutropenia caused by a homozygous variant in the Jagunal homolog 1 ( JAGN1 ) gene, who later developed atypical diabetes. Case presentation JAGN1 deficiency disrupts neutrophil maturation, resulting in immunodeficiency and recurrent infections. Our patient also exhibited impaired humoral immunity, requiring immunoglobulin replacement therapy, which reduced infection frequency. Several years after the identification of her JAGN1 mutation, she developed atypical insulin-dependent diabetes mellitus – a condition not previously associated with JAGN1 mutations. This novel finding suggests a potential role for JAGN1 in pancreatic β-cell function. Conclusions This case expands the spectrum of JAGN 1 -related immune dysfunction and introduces a potential link between JAGN1 deficiency and diabetes. We explore possible mechanisms underlying this association, highlighting the need for further research. Clinicians should consider JAGN1 mutations in the differential diagnosis of combined immune and metabolic disorders.
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Understanding rickets in osteopetrosis via a case: mechanisms and treatment implications

July 17, 2025

Meliha Esra Bilici, Zeynep Şıklar, Elif Özsu, Serdar Ceylaner, Zehra Aycan, Rukiye Uyanık, Merih Berberoğlu

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Objective Osteopetrorickets is a rare autosomal recessive disease that affects many systems and is characterized by dense bone mass and paradoxical rickets due to insufficient resorption of calcified cartilage. Its rarity and presentation with nonspecific symptoms may cause delays in diagnosis. Early diagnosis and improvement of rickets accompanying bone marrow transplantation as a curative treatment option before the development of any irreversible complications are essential for prognosis. However, the etiopathogenesis and management of rickets treatment strategies are still controversial. Case presentation A 4-month-old female patient, whose loss of vision had been followed for 1.5 months, was admitted to our clinic with the request for a disability report. Clinical and laboratory findings were consistent with osteopetrorickets. Molecular analysis revealed a homozygous variant in the TCIRG1 gene. She was normocalcemic and hypophosphatemic, and the 25-OH vitamin D level was normal, while 1.25-dihydroxyvitamin D levels were quite high. Treatment was started with low-dose calcium replacement and calcitriol. The dose of calcitriol was gradually increased to 300 ng/kg/d, and a significant clinical response was achieved. Bone marrow transplantation was conducted at 8 months postnatally from an HLA-compatible non-related donor; nonetheless, the patient succumbed to respiratory problems on the 71st day following the procedure. Conclusion Nonspecific symptoms of osteopetrorickets should be considered for early diagnosis, as a timely intervention in the first months of life can be life-saving. The pathophysiology of rickets remains unclear, but low calcium-phosphorus product and resistance to 1.25-dihydroxyvitamin D appear to play key roles. High-dose calcitriol and cautious calcium supplementation may improve outcomes, though further research is needed to optimize treatment strategies.
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Transient worsening of thyrotoxic myopathy following methimazole and metoprolol initiation in a 12-year-old girl: a case report and literature review

June 25, 2025

Yuto Onishi, Shinji Higuchi, Kohei Iwata, Yoh Watanabe, Yuki Yamada, Jun Mori

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Objectives Thyrotoxic myopathy (TM) is a muscle disorder associated with hyperthyroidism. Although TM is common in adults, its incidence in children is unknown due to the limited number of reports. TM usually improves with the treatment of hyperthyroidism. This is the first report of a patient with TM who experienced transient worsening of muscle weakness shortly after administration of methimazole (MMI) and metoprolol tartrate. Case Presentation A 12-year-old Japanese girl with Graves’ disease was administered MMI and metoprolol tartrate. Within 12 h of treatment initiation, the patient experienced difficulty in standing from a chair. Examination revealed proximal lower-limb weakness and reduced grip strength. Based on the patient’s clinical course and blood test results, thyrotoxic periodic paralysis, myasthenia gravis, or polymyositis were considered unlikely. While the side effects of MMI and metoprolol tartrate were also considered as differential diagnoses, her history revealed mild pre-existing lower limb muscle weakness for 2 months before treatment, suggesting that the side effects of the medication were unlikely. Given the clinical course, the worsening of TM was the most probable cause, and treatment was continued cautiously. Muscle weakness gradually improved over 3 months as her thyroid hormone levels normalized. Magnetic resonance imaging taken 1 month later revealed gluteus muscle atrophy, which resolved within 10 months. Conclusions TM may show transient worsening after MMI and metoprolol tartrate administration, requiring the evaluation of TM, drug side effects, and other possible causes before continuing treatment. This case highlights the importance of recognizing TM in pediatric patients.
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MMP13-related metaphyseal dysplasia: a differential diagnosis of rickets

June 13, 2025

Abdulkerim Kolkiran, Tuğba Daşar, Abdullah Sezer

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Objectives MMP13 -related metaphyseal dysplasia Spahr type, is an extremely rare skeletal disorder, and only a dozen patients with a confirmed molecular diagnosis have been reported. It is characterized by mild short stature, genu varum, and metaphyseal irregularities including fraying, splaying, and cupping of the long bones. The disorder is in the differential diagnosis of rickets, a relatively common disorder in childhood that shares similar clinical and radiological features with metaphyseal dysplasia. Case presentation Herein, we present a 39-month-old girl patient who was initially evaluated for rickets due to mild short stature, bowing of the lower extremities, and metaphyseal changes. Biochemical tests including calcium, phosphate, alkaline phosphatase, and vitamin D levels were all within normal ranges. Radiographies revealed advanced bone age, mildly enlarged epiphyses, wide and irregular metaphyses of the long tubular bones, mildly thickened long tubular bones, and coxa vara. Clinical exome sequencing identified a homozygous variant in the MMP13 gene, confirming the diagnosis of metaphyseal dysplasia Spahr type. Conclusions We emphasize that metaphyseal dysplasias mimic the clinical and radiographic features of rickets and play a significant role in the differential diagnoses, particularly in patients presenting with short stature, genu varum, and metaphyseal irregularities, despite the absence of biochemical abnormalities. In accordance with the Nosology of Genetic Skeletal Disorders: 2023 Revision, we reinforce the dyadic naming system for the two groups of MMP13 -related metaphyseal dysplasia, differentiated solely by their inheritance patterns, which also exhibit consistency with the location of the variants.
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The association between hydration status and body composition in healthy children and adolescents

May 1, 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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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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Journal Impact Factor	1.0	2024, Journal Citation Reports (Clarivate, 2025)
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Journal of Pediatric Endocrinology and Metabolism

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