journal: Journal of Pediatric Endocrinology and Metabolism

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Zeitschrift

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

Sprache: Englisch

Erstveröffentlichung: 1. Januar 1985

Erscheinungsweise: 12 Hefte pro Jahr

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Über diese Zeitschrift

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

Ihre Vorteile

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

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Cognitive behavioral therapy (CBT) effect on diabetic youth depression, death anxiety and glycemic control

8. Oktober 2025

Mohamad H. Khleif, Ahmad M. Khleif, Jihad A. Taamreh, Amira A. Lahsa, Aseel Ghneim, Bashayer Radaydah

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

1. Oktober 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

29. September 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

29. September 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.
Open Access
Clinical insights of the TBX19 C.856 C>T variant: a case report and literature review on neonatal isolated ACTH deficiency

25. September 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

25. September 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.
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Novel MCT8 mutation: diagnostic value of T3/T4 ratio

23. September 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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Atypical pediatric presentation of hyperparathyroidism: CDC73 gene mutation and parathyroid carcinoma

25. August 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.
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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

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

1. Mai 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

13. September 2019

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

Artikelnummer: 20198888

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A 2-year-old girl with merged phenotypes: galactosemia and Coffin–Lowry syndrome

1. Januar 2000

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

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

1. Januar 2000

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.
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

1. Januar 2000

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

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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.
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Bioelectrical impedance analysis and hormonal assessment in adolescents with pubertal gynecomastia

1. Januar 2000

Tarık Kırkgöz, Serkan Bilge Koca

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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.
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Maturity-onset diabetes of the young due to HNF1β variants (HNF1β-MODY): a 2-year follow-up study of six patients from a single diabetes center

1. Januar 2000

Handan Jiang, Yue Luo, Xiufeng Huang, Huiping Wu, Xiaoou Shan

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Objectives Summarize the clinical phenotypes and genotypic characteristics of Chinese pediatric patients with maturity-onset diabetes of the young due to HNF1β variants ( HNF1β -MODY). Methods Retrospective analysis of clinical characteristics, blood biochemical indexes, and genetic testing data was conducted on six children diagnosed with HNF1β -MODY followed in a single institution in Wenzhou from July 2020 to July 2024. Results Among the six children, three males and three females with a median age of diabetes onset at 12.3, four presented with pancreatic dysplasia. Extra-pancreatic manifestations included renal structural abnormalities(6/6), hypomagnesemia(6/6), hyperuricemia(4/6), elevated liver enzymes(4/6), hyperlipidemia(3/6), and genital tract malformation(1/6). Genetic testing identified a heterozygous HNF1β exon: 1–9 deletion in one patient, while the other five 17q12 microdeletions. Four children started insulin therapy at diagnosis, demonstrating no progressive decline in insulin secretion function and well-maintained insulin dependency. Six children received oral magnesium supplementation, and blood magnesium levels persisted at the lower limit of normal, without neuromuscular complications. Combined therapy with urinary alkalinizing agents and uricosuric drugs in three patients effectively maintained the serum urate levels, without observed progression. Hepatoprotective therapy decreased liver enzymes in two cases. Conclusions The clinical phenotype of HNF1β -MODY encompasses early-onset diabetes mellitus, pancreatic dysplasia, kidney disease, liver dysfunction, and genitourinary tract malformations, with refractory hypomagnesemia and hyperuricemia representing pathognomonic features. Early genetic confirmation can facilitate timely insulin initiation, guide targeted correction of electrolyte imbalances and metabolic disorders, and trigger proactive multi-organ monitoring for disease evolution.
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Serum α-Klotho and its association with testosterone in boys with central precocious puberty

1. Januar 2000

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

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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.
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Evaluation of the genetic alterations landscape of differentiated thyroid cancer in children

1. Januar 2000

Ebru Barsal Çetiner, Mualla Özcan, Mustafa Aydemir, Zeynep Donbaloğlu, Berna Singin, Bilge Aydın Behram, Aynur Bedel, Güzide Ayşe Ocak, İnanç Elif Gürer, Güngör Karagüzel, Mesut Parlak, Hale Tuhan

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Studies investigating the underlying genetic profile in pediatric patients diagnosed with differentiated thyroid cancer (DTC) are quite limited. This study aimed to identify genetic alterations in patients diagnosed with DTC. A total of 20 patients with confirmed DTC were included in the study; however, five were excluded due to the unavailability of thyroid tumor samples. Somatic mutation analysis of the DICER1, BRAF, KRAS, NRAS, and HRAS genes was performed using next-generation sequencing. In addition, gene fusions involving ALK, RET, PTC, ETV6, and NTRK3 were assessed using fluorescence in situ hybridization. A family screening was also conducted, and thyroid ultrasonography was performed. Fine-needle aspiration biopsy was carried out for family members when deemed necessary. The mean age at diagnosis was 14.42 ± 2.88 years. Somatic mutations were identified in nine patients (60 %). The detected mutations were as follows: RET/PTC fusion (n=3), BRAF V600E (n=2), NRAS Q61R (n=1), NRAS A59D (n=1), DICER1 E1705K (n=1), and ETV6/NTRK3 fusion (n=1). No statistically significant differences in prognostic factors were observed between patients with and without somatic mutations. As part of the family screening, suspicious thyroid nodules were detected in four parents. One parent underwent hemithyroidectomy, and final pathology revealed papillary thyroid carcinoma. Considering the limited number of similar studies on childhood thyroid cancer, these findings provide a valuable contribution to the existing literature. In particular, the results obtained from family screening may support advancements in early diagnosis, risk stratification, and the development of targeted therapeutic approaches.
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Dual molecular genetic diagnosis with combined malonic and methylmalonic aciduria (CMAMMA): implications of coexisting genetic disorders on clinical presentation

1. Januar 2000

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?

1. Januar 2000

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.
Open Access
Mucolipidosis type II and III: clinical spectrum, genetic landscape, and longitudinal outcomes in a pediatric cohort with six novel mutations

1. Januar 2000

Fehime Erdem, Ebru Canda, Havva Yazıcı, Rabia Eser, Merve Yoldaş Çelik, Selcan Keşan, Merve Saka Güvenç, Tahir Atik, İpek Tamsel, Hüseyin Onay, Sema Kalkan Uçar, Eser Yıldırım Sözmen, Mahmut Çoker

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Objectives Mucolipidosis (ML) type II α/β (I-cell disease) and type III (Pseudo-Hurler polydystrophy) are rare autosomal recessive lysosomal storage disorders caused by mutations in the GNPTAB (ML III α/β) and GNPTG (ML III γ) genes, leading to impaired lysosomal enzyme trafficking. These disorders manifest as progressive multisystem diseases with skeletal, neurological, cardiovascular, and respiratory involvement. This study aims to characterise pediatric patients’ clinical, biochemical, genetic, and radiological findings with ML II α/β and IIIα/β or γ to enhance understanding of disease diagnosis and progression. Methods This retrospective cohort study included 19 pediatric patients (15 ML II α/β, 3 ML III γ, 1 ML III α/β) diagnosed at a tertiary referral center. Clinical data, including facial dysmorphism, skeletal abnormalities, organomegaly, cardiovascular involvement, and neurological findings, were recorded at baseline and follow-up. Biochemical analysis included urinary glycosaminoglycan (GAG) levels and lysosomal enzyme activities. For molecular diagnostics, next-generation sequencing (NGS) was utilized using a targeted gene panel that contained GNPTG and GNPTAB leukocytes from peripheral blood were used to harvest genomic DNA. Following the 2015 ACMG/AMP standards, variant interpretation was carried out by evaluating pathogenicity using in silico prediction methods, population frequency data, and segregation analysis. Radiological findings were evaluated via skeletal X-rays and brain MRI. Results The median age at diagnosis was 8 months (range: 1 day–252 months), with a consanguinity rate of 63.1 %. ML II α/β patients presented earlier and had more severe findings, including coarse facies, respiratory tract involvement, cardiac abnormalities, and joint contractures. Cardiac valve disease, kyphosis, and progressive hearing loss were frequent. The most common mutation in GNPTAB was c.3503_3504delTC in ML II α/β, while GNPTG variants were linked to ML III γ. Radiologic findings often included hip dysplasia; brain MRIs showed callosal and subarachnoid abnormalities in a few cases. Median survival in ML II α/β was 28 months, mainly due to respiratory failure. Enzyme assays revealed elevated β-hexosaminidase A and A+B, α-D-mannosidase, and α-L-fucosidase activities in both leukocyte and DBS samples, consistent with molecular diagnoses. Conclusions In addition to reporting six novel GNPTAB/GNPTG mutations, this study highlights the diagnostic potential of dried blood spot (DBS) samples, where elevated lysosomal enzyme activity may offer a valuable, minimally invasive screening method for ML II/III.
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Management of porphyria-like syndrome in tyrosinemia type 1

1. Januar 2000

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

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

1. Januar 2000

Ayse Nurcan Cebeci, Michaela Marx, Regina Trollmann, Michael Buchfelder, Helmuth-Günther Dörr, Joachim Woelfle

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Objectives Rathke cleft cysts (RCC) in childhood are rare, often asymptomatic, and thus discovered incidentally. We aimed to summarize clinical features and pituitary function of patients with symptomatic RCC. Methods This retrospective study included 14 patients (8 male) from the university hospital’s database (period 2005–2023). Results RCC diagnosis based on magnetic resonance imaging at 12.2 (1.8–17.6) years. Presenting symptoms were headaches (n=8), occurring alone (n=1) or with nausea/fatigue (n=2), polydipsia (n=2), or dizziness (n=3), followed by growth retardation (n=5), occurring alone (n=4) or with polydipsia (n=1). Two patients exhibited visual disturbances. Endocrinological evaluation revealed pituitary insufficiency in 10, including isolated or combined growth hormone (GH) deficiency (n=5), arginine-vasopressin deficiency (AVP-D; n=5), central hypothyroidism (n=2), and hypocortisolism (n=2). Three patients had hyperprolactinemia. Nine patients were monitored by regular imaging; five underwent surgery. In the observation group, cyst size remained unchanged in seven and decreased in two patients, while it increased in four patients treated surgically. At last presentation after 6.4 (0.33–14.8) years of follow-up, the endocrine status of the conservatively followed patients was normal in n=6, and pathological in n=3. Pituitary function did not normalize after surgery. Five patients developed hypogonadotropic hypogonadism, including two children who were followed conservatively. Conclusions We found a high incidence of pituitary insufficiency among symptomatic pediatric RCC patients. Pituitary function was not closely related to cyst size or location and did not improve after surgery. Regular clinical and radiological follow-up is mandatory for both conservatively and surgically treated patients.
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Investigating the kynurenine pathway in pediatric metabolic health

1. Januar 2000

Fatma Özgüç Çömlek, Dilek Bingöl Aydın, Fikret Akyürek, Muslu Kazım Körez, Fuat Buğrul

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Objectives The rise in obesity has led to a higher incidence of metabolic diseases in children. Overnutrition leads to increased intake and availability of tryptophan (TRP). Research indicates a link between indoleamine 2,3-dioxygenase (IDO) activity, the activation of the tryptophan catabolic pathway, and inflammation associated with obesity. This study investigated how pediatric obesity affects tryptophan metabolism and its potential link to metabolic syndrome. Methods This prospective cohort study included 86 children aged 10 years and older, 56 of whom were obese. Obese children with body mass index (BMI) >95th percentile were divided into two groups: obese (BMI greater than 120 % of the 95th percentile for age and sex) and severely obese (BMI greater than 140 % of the 95th percentile for age and sex). Serum levels of kynurenine pathway metabolites were determined by liquid chromatography-mass spectrometry/mass spectrometry system. Results The mean ages (13.6 and 13.2 years) and gender distribution (36.7 and 46.2 % male) were similar across the groups. There were significant differences in tryptophan levels between the groups, being higher in the obese groups (p<0.001). 3-hydroxykynurenine(3HK) was significantly higher in the obese group (p=0.029). 3-hydroxykynurenine/kynurenine (3HK/KYN) ratio also significantly correlated with increased GGT and triglyceride levels and low HDL. Also higher 3HK/KYN ratio was correlated with elevated systolic blood pressure (SBP) and diastolic blood pressure (DBP) levels. No significant relationship was found between the KYN/TRP ratio and obesity metabolic syndrome indicators. Conclusions Although plasma kynurenine pathway metabolites showed some changes in children with obesity, larger series studies are needed to determine the relationship with metabolic syndrome.
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Glutathione synthetase deficiency: severe hemolysis and metabolic acidosis with symptoms in the intrauterine period

1. Januar 2000

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

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

1. Januar 2000

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

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

1. Januar 2000

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

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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.
Open Access
Pubertal characteristics, final height, and associated factors in patients with nonclassical congenital adrenal hyperplasia: a single center experience

1. Januar 2000

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

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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.
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Phosphoglucomutase 1 deficiency misdiagnosed as Laron syndrome

1. Januar 2000

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

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

1. Januar 2000

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

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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.
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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

1. Januar 2000

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

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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.
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Subclinical but significant? updated review of pediatric hypothyroidism

1. Januar 2000

Felicia Cooper, Gabriela Guadalupe Rios, Andrea Rivera-Sepulveda, Olivia DiLeonardo, Mauri Carakushansky, Shilpa Gurnurkar

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Objectives The aims of this review are to describe the rates of diagnosis of true thyroid disease (and subsequent treatment) in children with an elevated TSH referred to pediatric endocrinology, risk factors associated with elevated TSH secondary to thyroid disease, and TSH threshold level associated with thyroid disease. Methods To accomplish these aims, our team searched through four databases to curate 211 articles regarding TSH values in healthy children ages 1–18 years without an underlying risk for hypothyroidism. Results Five studies met our criteria and were analyzed to create the conclusions about rates of hypothyroidism requiring treatment (6.3–59 %), risk factors to developing hypothyroidism (TSH>10 mIU/L, goiter, and anti-thyroid antibodies), and high-risk TSH value (9.6 mIU/L when averaged among four studies). Conclusions The results are helpful in guiding practitioners about when to repeat TSH value before considering referral to endocrinology, when to refer, and when to anticipate the need of thyroid hormone replacement.

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