{"title":"Novel Variant of <i>SLC34A3</i> in a Compound Heterozygous Brazilian Girl with Hereditary Hypophosphatemic Rickets with Hypercalciuria","authors":"Luciana Pinto Valadares, Daniel Rocha de Carvalho","doi":"10.4274/jcrpe.galenos.2023.2023-5-2","DOIUrl":"10.4274/jcrpe.galenos.2023.2023-5-2","url":null,"abstract":"<p><p>Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare fibroblast growth factor-23-independent disorder caused by biallelic variants in the <i>SLC34A3</i> gene. The disease severity varies, and patients have an increased risk of developing renal complications. Phosphate supplementation is the standard of care and active vitamin D analogs are not indicated as they could worsen the hypercalciuria. We report a Brazilian girl with HHRH who presented with knee pain and progressive genu valgum deformity that became apparent from the age of eight years onwards. Nephrocalcinosis was also identified at age 13 years. Targeted next-generation sequencing for hereditary forms of rickets detected compound heterozygous pathogenic variants in <i>SLC34A3</i>, including a novel missense variant c.1217G>T (p.Gly406Val). Compliance to oral phosphorus therapy was suboptimal and adjunctive chlorthalidone therapy improved hypercalciuria. This report highlights the phenotypic variability and also expands the list of <i>SLC34A3</i> variants associated with HHRH. An accurate diagnosis is key for optimal treatment. Of note, thiazide diuretics may be useful as adjunctive therapy for controlling hypercalciuria.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"326-331"},"PeriodicalIF":1.5,"publicationDate":"2025-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12372640/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10185624","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Abdullah Bereket, Neşe Perdahlı Fiş, Batu Gürser, Şükrü Hatun, Sibel Sakarya, Volkan Yumuk, Belma Haliloğlu
{"title":"ACTION Teens Global Survey–Türkiye Report: More Worry and Less Motivation for Adolescents Living with Obesity","authors":"Abdullah Bereket, Neşe Perdahlı Fiş, Batu Gürser, Şükrü Hatun, Sibel Sakarya, Volkan Yumuk, Belma Haliloğlu","doi":"10.4274/jcrpe.galenos.2025.2024-12-1","DOIUrl":"10.4274/jcrpe.galenos.2025.2024-12-1","url":null,"abstract":"<p><strong>Objective: </strong>ACTION Teens (NCT05013359) surveyed adolescents living with obesity (ALwO), their caregivers, and healthcare professionals (HCPs) in 10 countries to identify attitudes, perceptions, behaviors, and barriers preventing effective obesity care. This subanalysis identified key findings from Türkiye.</p><p><strong>Methods: </strong>In Türkiye, 700 ALwO (aged 12 <18 years), 700 caregivers, and 324 HCPs completed a cross-sectional survey (September-November 2021).</p><p><strong>Results: </strong>ALwO had poor mean World Health Organization-5 Well-Being Index (36.7) and Rosenberg Self-Esteem Scale (14.6) scores. Most ALwO (85%) were worried about their weight, and many ALwO (92%) and caregivers (96%) worried about weight affecting their/their child’s future health. Furthermore, many respondents agreed weight loss is completely the ALwO’s responsibility (ALwO: 70%; caregivers: 47%; HCPs: 42%). Despite this, only 24% of ALwO reported being highly motivated to lose weight, although 59% reported a weight-loss attempt in the past year. Their most common weight-loss barrier was being unable to control hunger, according to ALwO (76%) and caregivers (73%). HCPs reported discussing weight with 42% of ALwO, on average, with 34% indicating insufficient time during appointments prevents them from discussing weight.</p><p><strong>Conclusion: </strong>Compared with the global ACTION Teens analysis, a greater proportion of ALwO in Türkiye worried about weight impacting future health (92% vs. 85%), yet a similar proportion had made a recent weight-loss attempt (59% vs. 58%), perhaps due to lower motivation (24% vs. 45%). These results suggest ALwO in Türkiye require greater weight-management support, particularly support with controlling hunger and so, measures should be taken to reduce HCPs’ time constraints.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"307-317"},"PeriodicalIF":1.5,"publicationDate":"2025-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12372627/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143030195","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Making Teachers and School Health Nurses Part of Pediatric Diabetes Teams","authors":"Şükrü Hatun, Gül Yeşiltepe Mutlu, Gülcan Kılınç, Zehra Aycan","doi":"10.4274/jcrpe.galenos.2024.2024-5-12","DOIUrl":"10.4274/jcrpe.galenos.2024.2024-5-12","url":null,"abstract":"<p><p>Children with diabetes need consistent care across all environments, including school, where they spend significant time. Türkiye’s Diabetes at School Program, initiated in 2010, has made substantial progress in integrating diabetes care into the school system. The program’s achievements include government support, annual awareness activities, communication between diabetes teams and schools, policy implementation, and training for school staff. A recent meeting of Provincial Health Service Officers highlighted ongoing efforts and future directions for the program, emphasizing the importance of continuous support for children with diabetes in educational settings. Key outcomes of this meeting included designated caregivers for children with diabetes at school, optional administration of insulin by trained staff, mandatory diabetes education for teachers, and health-conscious policies for school activities. The program’s success is attributed to the collaborative efforts of teachers, healthcare professionals, and government officials. Ensuring robust support for children with diabetes in schools is vital for their well-being and academic success.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"365-367"},"PeriodicalIF":1.5,"publicationDate":"2025-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12372650/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141903291","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Familial Clinical Heterogeneity of Medullary Thyroid Cancer with Germline <i>RET</i> S891A Protooncogene Mutation: 7-year Follow-up with Successful Sorafenib Treatment","authors":"Sirmen Kızılcan Çetin, Zeynep Şıklar, Elif Özsu, Ayşegül Ceran, Koray Ceyhan, Zehra Aycan, Ayça Kırmızı, Handan Dinçaslan, Emel Ünal, Merih Berberoğlu","doi":"10.4274/jcrpe.galenos.2023.2023-7-13","DOIUrl":"10.4274/jcrpe.galenos.2023.2023-7-13","url":null,"abstract":"<p><p>Hereditary forms of medullary thyroid carcinoma (MTC) are rare. Different phenotypes with the same mutation may be due to differences in the timing of rearranged during transfection (<i>RET</i>) activation steps, additional mutations in other regions of the gene, or the co-occurrence of germline and somatic mutations, which is an infrequent possibility. Here, we present the different features and challenges during the follow-up of three family members with the same germline mutation. A 4-year-old male patient with respiratory distress was diagnosed with MTC and found to have a heterozygous germline mutation C.2671T>G(S891A) in the <i>RET</i> gene (classified as intermediate risk by the American Thyroid Association. As the tumor was inoperable, treatment with a tyrosine kinase inhibitor (sorafenib) was initiated. This treatment with sorafenib prevented tumor progression for seven years. Whole exome sequencing did not identify additional mutations. Segregation analysis showed the same mutation in the asymptomatic mother and sister. In the proband, thyroid tissues were examined for somatic mutations, and <i>SDHA</i> c.1223C>T (p.S408L) was found. The clinical presentation of rare mutations such as <i>RET</i> p.S891A differed among family members carrying the same germline mutation. Our index case’s more severe clinical presentation may be due to an additional somatic mutation. Sorafenib treatment can be an option for advanced MTC and may prevent disease progression.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"345-351"},"PeriodicalIF":1.5,"publicationDate":"2025-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12372635/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71523017","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Can Dietary Acid Load in Obese Adolescents Interfere with Cardiometabolic Risk, Psychological Resilience and Sleep Quality?","authors":"Nadia Raci Marques Pereira, Andréia Gomes Bezerra, Sergio Tufik, Helena Hachul","doi":"10.4274/jcrpe.galenos.2025.2024-12-19","DOIUrl":"10.4274/jcrpe.galenos.2025.2024-12-19","url":null,"abstract":"","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"368-369"},"PeriodicalIF":1.5,"publicationDate":"2025-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12372639/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143030197","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pınar Kılıçdağı Çanakcı, Marta Suárez Gonzále, Engin Köse, Furkan Yolcu, Ayşegül Ceran, Isolina Riaño Galán, Fatma Tuba Eminoğlu
{"title":"Two Countries, One Metabolic Dilemma: Nutritional Management of Concurrent Maple Syrup Urine Disease and Type 1 Diabetes Mellitus.","authors":"Pınar Kılıçdağı Çanakcı, Marta Suárez Gonzále, Engin Köse, Furkan Yolcu, Ayşegül Ceran, Isolina Riaño Galán, Fatma Tuba Eminoğlu","doi":"10.4274/jcrpe.galenos.2025.2025-5-16","DOIUrl":"https://doi.org/10.4274/jcrpe.galenos.2025.2025-5-16","url":null,"abstract":"<p><p>Maple Syrup Urine Disease (MSUD) and Type 1 Diabetes Mellitus (T1DM) are two distinct metabolic disorders with unique dietary management requirements. While MSUD necessitates strict restriction of branched-chain amino acids (BCAAs), T1DM requires precise carbohydrate counting to maintain optimal glycemic control. We report two cases of patients diagnosed with both MSUD and T1DM, highlighting the challenges and strategies in dietary management. Case 1, a 5-year-old girl, was diagnosed with T1DM after presenting with hyperglycemia and metabolic acidosis, despite previously stable MSUD management. The dietary regimen was modified to include a leucine-free amino acid formula and controlled carbohydrate intake to stabilize both leucine and glucose levels. Case 2, an 11-year-old boy with the diagnosis of MSUD, presented with hyperglycemia during a routine follow-up. Dietary management involved increasing the leucine-free formula while reducing carbohydrate intake to maintain metabolic control. Both cases emphasize the importance of individualized dietary plans, integrating BCAA restriction and carbohydrate regulation to prevent metabolic crises and achieve optimal glycemic control. These cases also underscore the need for a multidisciplinary approach involving pediatric endocrinologists, metabolic specialists, and dietitians to navigate the complexities of dual metabolic disorders effectively. Further studies are warranted to explore long-term outcomes and potential therapeutic targets in patients with concurrent MSUD and T1DM.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2025-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144975359","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Development of Dysplastic Nevi in a Child with LEPR Deficiency Treated with Setmelanotide.","authors":"Hatice Nursoy, Yasemin Denkboy Öngen, Ferdi Öztürk, Şaduman Balaban Adım, Erdal Eren","doi":"10.4274/jcrpe.galenos.2025.2025-5-14","DOIUrl":"https://doi.org/10.4274/jcrpe.galenos.2025.2025-5-14","url":null,"abstract":"<p><p>Setmelanotide is a recently approved medication for patients over two years of age with monogenic obesity that emerges from POMC, LEPR, PCSK1 mutations, or Bardet-Biedl syndrome. While primarily targeting melanocortin-4 receptors (MC4R), setmelanotide also weakly stimulates melanocortin-1 receptors (MC1R), which may affect pigmentation. Clinical outcomes of this treatment modality remain limited due to the rarity of disorders mentioned above. We present a 12-year-old boy with a homozygous LEPR mutation who experienced skin hyperpigmentation shortly after the initiation of setmelanotide treatment. By the third month of treatment, gradual darkening of nevi was noted. At six-month follow-up, two nevi were excised due to pigmentation changes, and histopathology revealed dysplastic features in both. This case raises concerns about potential MC1R-mediated melanocytic activity during setmelanotide treatment. Therapy was temporarily discontinued. To our knowledge, this is the first reported pediatric case with LEPR-related monogenic obesity developing dysplastic nevi during setmelanotide use.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2025-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144975333","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Gülümay Vural Topaktaş, Emrullah Arslan, Tayfun Çinleti, Özlem Anlaş, Ebru Pala, Benay Turan, Eren Er, Bumin Nuri Dündar
{"title":"A Case of Carney Complex with Pontine Glioma.","authors":"Gülümay Vural Topaktaş, Emrullah Arslan, Tayfun Çinleti, Özlem Anlaş, Ebru Pala, Benay Turan, Eren Er, Bumin Nuri Dündar","doi":"10.4274/jcrpe.galenos.2025.2025-12-22","DOIUrl":"https://doi.org/10.4274/jcrpe.galenos.2025.2025-12-22","url":null,"abstract":"<p><p>Carney Complex (CNC) is a rare autosomal dominant syndrome characterized by skin pigmentation abnormalities, endocrine tumors, and cardiac myxomas. This report presents an 11-year-old girl with a history of pontine glioma treated with chemotherapy and radiotherapy at 2.5 years of age, who presented with complaints of weight gain and short stature, along with syndromic features (multiple nevi around the mouth and nose, four café-au-lait spots, and bilateral clinodactyly of the fourth toes) identified during physical examination. Genetic testing revealed a novel pathogenic PRKAR1A variant, confirming the diagnosis of CNC. The patient was diagnosed with Cushing's syndrome due to unsuppressed cortisol levels observed in a high-dose dexamethasone suppression test. Pathological evaluation following unilateral adrenalectomy confirmed the presence of primary pigmented nodular adrenocortical disease (PPNAD). This case highlights the importance of recognizing the atypical course of CNC to prevent delays in diagnosis and treatment.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2025-08-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144876314","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Hereditary Hypophosphatemic Rickets with Hypercalciuria - Importance of Further Evaluation If Clinical Suspicion is Strong.","authors":"Chathupani Anuradha Wettasinghe, Ishara Minuri Kumarasiri, Mahendralingam Vidushajini, Thabitha Jebaseeli Hoole, Manimel Wadu Akila Nimanthi, Imalka Jayasundara, Reha Balasubramaniam, Navoda Atapattu","doi":"10.4274/jcrpe.galenos.2025.2025-1-15","DOIUrl":"https://doi.org/10.4274/jcrpe.galenos.2025.2025-1-15","url":null,"abstract":"<p><p>Hereditaryhypophosphatemic rickets with hypercalciuria ( HHRH) is a rare genetic condition with Autosomal recessive inheritance with a prevalence of 1 in 250000. It is due to mutation in SLC4A3 gene. Correct diagnosis of this condition is important as treatment with active vitamin D metabolites are contraindicated. Evolution of the disease despite initial completely normal bio chemistry has ben observed causing diagnostic confusion. First child presented at the age of 5.5 year with features of rickets. He had abnormal bone profile with normal vitamin D levels. urinary phosphate studies were compatible with HHRH. He was treated with phosphate supplementation and Potassium citrate. He has well responded to the treatment. Second child initially presented at 1.5 years of age with bowing and family history of hypercalciuria. All investigation findings including urinary phosphate studies were within normal limits. At the age of 2.5 year, he again presented with worsening of bowing. Bio chemical and urinary investigations were repeated. Laboratory findings were compatible with HHRH. It highlights the importance of repeated investigations despite initial normal parameters if the initial clinical suspicion is strong and clinical and investigation based diagnosis of this rare genetic disease in resource limited setting.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2025-08-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144876315","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Associations of Urinary Metabolites of Parabens and Bisphenol a with Premature Thelarche Among a Sample of Iranian Girls.","authors":"Nafiseh Mozafarian, Mahin Hashemipour, Mohammad Reza Maracy, Hamid Galehdari, Roya Kelishadi","doi":"10.4274/jcrpe.galenos.2025.2025-3-22","DOIUrl":"https://doi.org/10.4274/jcrpe.galenos.2025.2025-3-22","url":null,"abstract":"<p><strong>Objective: </strong>Endocrine-disrupting chemicals (EDC) may influence the process of puberty including the development of premature thelarche (PT). This study aimed to investigate the relation between exposure to bisphenol A (BPA) and parabens with PT among a sample of Iranian girls.</p><p><strong>Methods: </strong>This case-control study was conducted in 2022-2023 on girls with a mean (SD) age of 7.5(0.6) years in Isfahan, Iran. Participants were 90 newly diagnosed PT cases and 114 healthy controls. Spot urine samples were collected from both groups to measure the levels of BPA and paraben metabolites. We performed analyses of BPA and paraben metabolites including methylparaben (MeP), ethylparaben (EtP), propylparaben (PrP), and butylparaben (BuP) and benzylparaben (BzP) using gas chromatography-mass spectrometry. The association between concentrations of creatinine-standardized urinary bisphenol A and parabens and PT was analyzed with multiple logistic regression models, after adjusting for potential confounders.</p><p><strong>Results: </strong>The results showed that individuals in the highest quartile of methyl paraben (OR=4.3, 95% CI:1.2-14.9, P=0.023), ethyl paraben (OR=4.7, 95% CI:1.3-17.2, P=0.018) and BPA (OR=5.03, 95% CI:1.4-17.9, P=0.013) had a significantly higher odds for PT compared to those in the lowest quartile.</p><p><strong>Conclusion: </strong>The findings of this study suggest that exposure to BPA, MeP and EtP is related to increased odds of early breast development in girls. Limiting the exposure to these chemicals may help to reduce the risk of precocious puberty.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2025-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144822989","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}