Journal of Clinical Research in Pediatric Endocrinology最新文献

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Rationale for Long-acting Growth Hormone Therapy and Future Aspects 长效生长激素疗法、合理性和未来展望。
IF 1.5 4区 医学
Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2025-03-19 Epub Date: 2024-03-15 DOI: 10.4274/jcrpe.galenos.2024.2023-11-8
Semra Çetinkaya, Erdal Eren, Furkan Erdoğan, Feyza Darendeliler
{"title":"Rationale for Long-acting Growth Hormone Therapy and Future Aspects","authors":"Semra Çetinkaya, Erdal Eren, Furkan Erdoğan, Feyza Darendeliler","doi":"10.4274/jcrpe.galenos.2024.2023-11-8","DOIUrl":"10.4274/jcrpe.galenos.2024.2023-11-8","url":null,"abstract":"<p><p>Recombinant growth hormone (GH) is administered as daily subcutaneous injections. Daily treatment can be challenging for children/adolescents, as well as for parents and/or caregivers, such as legal representatives or guardians of children in institutional care. Challenges associated with daily treatment may result in missing several doses but non-adherence with treatment leads to inadequate growth response. As an inadequate growth response does not meet criteria for continuing treatment, payers (commercial or public) may decide to end reimbursement. Novel long-acting GH (LAGH) formulations with extended half-life may be administered less frequently and aim to improve patient convenience and consequently to improve adherence and responses to treatment. LAGH formulations can restore growth velocity and body composition as effectively as daily treatment, without unexpected adverse effects, as reported in randomized clinical trials.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"1-8"},"PeriodicalIF":1.5,"publicationDate":"2025-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11923522/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140133006","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}
引用次数: 0
Continuous Glucose Monitoring Systems and the Efficacy of Acarbose Treatment in Cystic Fibrosis-related Dysglycemia 连续血糖监测系统和阿卡波糖治疗囊性纤维化相关血糖异常的疗效
IF 1.5 4区 医学
Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2025-03-19 Epub Date: 2023-09-15 DOI: 10.4274/jcrpe.galenos.2023.2023-2-12
Emrullah Arslan, Deniz Özalp Kızılay, Yasemin Atik Altınok, Bahar Girgin Dündar, Arzu Jalilova, Günay Demir, Samim Özen, Şükran Darcan, Ruhsar Damla Gökşen
{"title":"Continuous Glucose Monitoring Systems and the Efficacy of Acarbose Treatment in Cystic Fibrosis-related Dysglycemia","authors":"Emrullah Arslan, Deniz Özalp Kızılay, Yasemin Atik Altınok, Bahar Girgin Dündar, Arzu Jalilova, Günay Demir, Samim Özen, Şükran Darcan, Ruhsar Damla Gökşen","doi":"10.4274/jcrpe.galenos.2023.2023-2-12","DOIUrl":"10.4274/jcrpe.galenos.2023.2023-2-12","url":null,"abstract":"<p><p>Early detection of glycemic dysregulation and optimization of glycemic control in cystic fibrosis (CF) related diabetes (CFRD) is associated with improved pulmonary function and decreased mortality. The standard 2-hour oral glucose tolerance test (OGTT) is the current routine screening test for CFRD. However, hyperglycemia can be detected by continuous glucose monitoring systems (CGMS) in patients with normal OGTT evaluation. High-dose acarbose is an important alternative in the treatment of glycemic dysregulation especially accompanied by hypoglycemia. A 7-year-old boy with CF presented with hyperglycemia. Hypoglycemia (29 mg/dL) and hyperglycemia (400 mg/dL) were demonstrated by OGTT and intermittent CGM (iCGMS). Thickener was added to nutritional solutions and acarbose was initiated as 3x12.5 mg/dose and increased to 6x25 mg without any side effects. On the twentieth day of treatment, glycemic dysregulation resolved. In the early detection of CFRD, screening with OGTT after the age of 10 years may be inaccurate. Therefore, routine use of CGMS or iCGMS should be considered. In addition, in CFRD with severe hypoglycemia, acarbose may be an important alternative in the high and increased dose range.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"120-125"},"PeriodicalIF":1.5,"publicationDate":"2025-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11923468/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10609492","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}
引用次数: 0
Liraglutide Treatment Improves Glycaemic Dysregulation, Body Composition, Cardiometabolic Variables and Uncontrolled Eating Behaviour in Adolescents with Severe Obesity 利拉鲁肽治疗可改善严重肥胖青少年的血糖失调、身体成分、心脏代谢变量和失控饮食行为。
IF 1.5 4区 医学
Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2025-03-19 Epub Date: 2024-09-23 DOI: 10.4274/jcrpe.galenos.2024.2023-10-10
Louise Apperley, Jennifer Parkinson, Senthil Senniappan
{"title":"Liraglutide Treatment Improves Glycaemic Dysregulation, Body Composition, Cardiometabolic Variables and Uncontrolled Eating Behaviour in Adolescents with Severe Obesity","authors":"Louise Apperley, Jennifer Parkinson, Senthil Senniappan","doi":"10.4274/jcrpe.galenos.2024.2023-10-10","DOIUrl":"10.4274/jcrpe.galenos.2024.2023-10-10","url":null,"abstract":"<p><strong>Objective: </strong>Childhood obesity is associated with long-term health complications. Liraglutide is approved for use in adolescents for weight loss and has shown beneficial outcomes in clinical trials. Continuous glucose monitoring (CGM) is widely used in type 1 diabetes mellitus. To look at the effect of liraglutide treatment on cardiometabolic variables, glycaemic control (as assessed by CGM), body composition, quality-of-life and satiety levels in adolescents with severe obesity.</p><p><strong>Methods: </strong>Patients aged 12 to 17.9 years were commenced on liraglutide in addition to lifestyle support. Pediatric Quality of Life 4.0 generic scale and Three-factor Eating Questionnaire R18 were completed at baseline and after 3-months.</p><p><strong>Results: </strong>Twenty-four subjects (10 male: 14 female) took part. Significant improvements in weight, body mass index (BMI), BMI standard deviation scores, percentage body fat and fat mass following liraglutide treatment. A significant reduction in glycated haemoglobin, triglyceride and cholesterol levels, as well as a reduction in uncontrolled eating behaviour were observed. The time spent within normal glucose range (3.9-7.8 mmol/L; 70.2-140.4 mg/dL) was lower than in healthy peers (91.76% vs. 97.00%) at baseline but improved after liraglutide treatment. The cohort reported lower health-related quality-of-life scores and exhibited more uncontrolled eating and emotional eating behaviours, compared to the healthy population.</p><p><strong>Conclusion: </strong>We report, for the first time, the role of CGM in identifying glycaemic dysregulation in children and young people with obesity before and after liraglutide treatment. The results have shown significant potential for liraglutide treatment in improving outcomes. Earlier identification of glycaemic dysregulation and targeted therapy could potentially reduce the long-term risk of developing type 2 diabetes mellitus.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"68-75"},"PeriodicalIF":1.5,"publicationDate":"2025-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11923471/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142299188","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}
引用次数: 0
The First Case of 4H Syndrome with Type 1 Diabetes Mellitus 4H综合征合并1型糖尿病1例
IF 1.5 4区 医学
Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2025-03-19 Epub Date: 2023-03-28 DOI: 10.4274/jcrpe.galenos.2023.2023-1-15
Gönül Büyükyılmaz, Büşra Erozan Çavdarlı, Keziban Toksoy Adıgüzel, Mehmet Adıgüzel, Çiğdem Seher Kasapkara, Fatih Gürbüz, Mehmet Boyraz, Esra Gürkaş
{"title":"The First Case of 4H Syndrome with Type 1 Diabetes Mellitus","authors":"Gönül Büyükyılmaz, Büşra Erozan Çavdarlı, Keziban Toksoy Adıgüzel, Mehmet Adıgüzel, Çiğdem Seher Kasapkara, Fatih Gürbüz, Mehmet Boyraz, Esra Gürkaş","doi":"10.4274/jcrpe.galenos.2023.2023-1-15","DOIUrl":"10.4274/jcrpe.galenos.2023.2023-1-15","url":null,"abstract":"<p><p>4H syndrome is a rare, progressive, hypomyelinating leukodystrophy. Hypomyelination, hypodontia, and hypogonadotropic hypogonadism are the three classic features of 4H syndrome. Biallelic pathogenic variants in <i>POLR3A, POLR3B, POLR1C</i>, and <i>POLR3K</i> gene cause 4H leukodystrophy. Herein, we present clinical features in two siblings with 4H syndrome. The first patient (16 years) presented with hypogonadotropic hypogonadism, euthyroid Hashimoto’s thyroiditis and type 1 diabetes mellitus (DM). The second patient (13.5 years) showed normal physical, biochemical and hormonal examination at presentation. The second patient was followed up for epilepsy between the ages of 6 months and 6 years, when his epilepsy medication was discontinued, and he did not have seizure again. T2-weighted magnetic resonance images showed increased signal intensity secondary to hypomyelination in both. They were subsequently found to have a homozygous variant in the POLR3A gene. 4H syndrome may present with neurological and non-neurological findings in addition to classic features of 4H syndrome. Progressive neurological deterioration may occur and endocrine dysfunction may be progressive. Although multiple endocrine abnormalities associated with this disorder have been reported to date, a case accompanied by type 1 DM has not previously been published. We do not know if this was a coincidence or an expansion of the phenotype. However, reporting such cases helps to determine the appropriate genotype-phenotype correlation in patients.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"103-108"},"PeriodicalIF":1.5,"publicationDate":"2025-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11923466/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9246974","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}
引用次数: 0
Thauvin-Robinet-Faivre Syndrome: A FIBP Variant in an Adolescent with Segmental Overgrowth and Thyroid Carcinoma. Thauvin-Robinet-Faivre综合征:青少年节段性过度生长和甲状腺癌的FIBP变异。
IF 1.5 4区 医学
Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2025-03-18 DOI: 10.4274/jcrpe.galenos.2025.2024-10-12
Ulku Gul Siraz, Deniz Koçak Göl, Meino Rohlfs, Christoph Klein, Ekrem Unal
{"title":"Thauvin-Robinet-Faivre Syndrome: A <i>FIBP</i> Variant in an Adolescent with Segmental Overgrowth and Thyroid Carcinoma.","authors":"Ulku Gul Siraz, Deniz Koçak Göl, Meino Rohlfs, Christoph Klein, Ekrem Unal","doi":"10.4274/jcrpe.galenos.2025.2024-10-12","DOIUrl":"https://doi.org/10.4274/jcrpe.galenos.2025.2024-10-12","url":null,"abstract":"<p><p>Overgrowth syndromes are rare genetic disorders arising from alterations in the growth factors pathway. These syndromes can present as generalized overgrowth, characterized by macrosomia and excessive height compared to peers, or partial overgrowth syndromes, where specific body regions exhibit disproportionate growth often accompanied by vascular anomalies. Both forms are associated with an increased risk of tumor development. The FGF-1 intracellular binding protein (FIBP) gene plays a critical role in cell proliferation and differentiation by interacting with growth factors. In this article, we present a case of Thauvin-Robinet-Faivre Syndrome (TROFAS) in a 16-year-old girl, diagnosed with homozygous NM_004214.5 c.412-3_415dup (p.Asp139AIafsTer3) variant in the FIBP gene. This case exhibits phenotypic features and tumor development, including thyroid follicular carcinoma and parotid mucoepidermoid carcinoma, that have not been previously reported in association with this syndrome. Recent studies have implicated FIBP gene defects in overgrowth syndromes, with only a limited number of cases described globally. Our case expands the known clinical and tumor spectrum associated with TROFAS, providing new insights into the pathophysiology of this rare disorder.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2025-03-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143659276","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}
引用次数: 0
What is the Most Effective Method for Predicting Adult Height in Boys with Constitutional Delay of Growth and Puberty? 预测体质性发育迟缓和青春期男孩成年身高最有效的方法是什么?
IF 1.5 4区 医学
Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2025-03-17 DOI: 10.4274/jcrpe.galenos.2025.2024-11-6
Gözde Akın Kağızmanlı, Deniz Özalp Kızılay, Reyhan Deveci Sevim, Kübra Yüksek Acinikli, Fulya Mete Kalaycı, Ayşegül Tekneci, Korcan Demir, Ece Böber, Ahmet Anık, Samim Özen, Ayhan Abacı
{"title":"What is the Most Effective Method for Predicting Adult Height in Boys with Constitutional Delay of Growth and Puberty?","authors":"Gözde Akın Kağızmanlı, Deniz Özalp Kızılay, Reyhan Deveci Sevim, Kübra Yüksek Acinikli, Fulya Mete Kalaycı, Ayşegül Tekneci, Korcan Demir, Ece Böber, Ahmet Anık, Samim Özen, Ayhan Abacı","doi":"10.4274/jcrpe.galenos.2025.2024-11-6","DOIUrl":"https://doi.org/10.4274/jcrpe.galenos.2025.2024-11-6","url":null,"abstract":"<p><strong>Background: </strong>Predicted adult height (PAH) can be calculated using methods such as Bayley-Pinneau (BP), Roche-Wainer-Thissen (RWT), and BoneXpert based on bone age (BA) assessment. Since these methods were developed for healthy children, varying results have been reported regarding their efficacy across different patient groups.</p><p><strong>Objective: </strong>This study aimed to determine the most effective method for PAH by comparing the BP, RWT, and BoneXpert methods in boys with constitutional delay of growth and puberty (CDGP).</p><p><strong>Subjects and methods: </strong>Sixty-two male patients with CDGP who had reached their final height (FH) were included in the study. Two experienced clinicians reassessed left-hand and wrist radiographs taken at the time of diagnosis using the Greulich-Pyle (GP) atlas to manually determine BA. Among the methods used for PAH, the GP atlas was used for BP and RWT, while we used its GP-based electronic software for the BoneXpert method.</p><p><strong>Results: </strong>The mean age at diagnosis of the patients was 14.2 ± 0.8 years, with 58.1% (n=36) having a similar family history. The mean height standard deviation (SD) score was -2.1 ± 0.9, and 24.2% (n=15) of patients received low-dose testosterone induction therapy. The median BAs of the patients were 12.5 (11.5-13.0) years using the GP atlas and 12.6 (11.8-13.4) years with BoneXpert (<i>p</i><0.001). Boys who were treated with or not treated with testosterone therapy had similar mean height SD scores, median testicular volumes, and median BAs assessed by both methods. The mean target height and FH SD scores were -0.6 ± 0.6 and -0.6 ± 0.9, respectively (<i>p</i>=0.8). Almost all patients (n=60, 97%) achieved adult height within the target range, with no significant difference in the FH SD score between boys who received testosterone and those who did not (<i>p</i>=0.1). There was no significant difference between the FH and PAH when estimated by the BP and RWT methods (<i>p</i>=0.2 and <i>p</i>=0.6, respectively), while the BoneXpert method underestimated the FH (<i>p</i><0.001). The BP and RWT methods provided better predictions in patients with BA ≤ 2 years compared to BoneXpert (<i>p</i>=0.3 and <i>p</i>=0.4 vs. p<0.001, respectively). Conversely, RWT and BoneXpert methods were more accurate in PAH in boys with delayed BA >2 years (<i>p</i>=0.1 and <i>p</i>=0.1, respectively), while the BP method resulted in overestimation (<i>p</i>=0.003).</p><p><strong>Conclusion: </strong>The RWT method was found to be a better predictor of FH compared to the BP or BoneXpert methods in boys with delayed BA ≤ 2 years and >2 years.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2025-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143651597","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}
引用次数: 0
The Effect of Problematic Internet Use, Internet Gaming Disorder and Cyberbullying/Victimization Levels on Self-Esteem in Obese Adolescents. 肥胖青少年网络使用问题、网络游戏障碍和网络欺凌/受害水平对自尊的影响
IF 1.5 4区 医学
Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2025-03-17 DOI: 10.4274/jcrpe.galenos.2025.2024-10-20
Havvanur Eroğlu Doğan, Evrim Aktepe, Ümit Işık, Mustafa Özgür Pirgon
{"title":"The Effect of Problematic Internet Use, Internet Gaming Disorder and Cyberbullying/Victimization Levels on Self-Esteem in Obese Adolescents.","authors":"Havvanur Eroğlu Doğan, Evrim Aktepe, Ümit Işık, Mustafa Özgür Pirgon","doi":"10.4274/jcrpe.galenos.2025.2024-10-20","DOIUrl":"https://doi.org/10.4274/jcrpe.galenos.2025.2024-10-20","url":null,"abstract":"<p><strong>Objectives: </strong>The aim of this study is to compare the levels of problematic internet use, self-esteem, internet gaming disorder and cyberbullying/victimization in adolescents diagnosed with obesity with the control group and to examine the relationship between these variables and self-esteem.</p><p><strong>Methods: </strong>The study included a total of 166 adolescents (115 females and 49 males). The relationship between the scales of Problematic Internet Use, Cyberbullying/Victimization, Internet Gaming Disorder (IGD) and the Piers-Harris Self-Esteem Scale was analyzed using linear regression methods.</p><p><strong>Results: </strong>It was determined that self-esteem in adolescents diagnosed with obesity was lower compared to healthy controls, and problematic internet use was higher in obese individuals compared to healthy controls although no difference was found between the groups in terms of internet gaming disorder and cyberbullying/victimization levels. In obese individuals, cyber forgery and verbal cyberbullying victimization, IGD withdrawal subscales, and total scores on the cyberbullying scale have been found to be factors negatively affecting self-esteem.</p><p><strong>Conclusions: </strong>According to the findings of our study, taking measures to reduce problematic internet use, IGD, and cyberbullying/victimization in obese adolescents can be considered as a protective measure for self-esteem and, consequently, mental health.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2025-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143651544","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}
引用次数: 0
A Novel SRD5A2 Loss-of-Function Variant in a Chinese Child with 5α-Reductase type 2 Deficiency. 中国儿童5α-还原酶2型缺乏症中一种新的SRD5A2功能丧失变异
IF 1.5 4区 医学
Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2025-03-06 DOI: 10.4274/jcrpe.galenos.2024.2024-8-9
Peng Zhou, Juanjuan Lyu, Xiaomei Sun, Ying Liu, Chuanjie Yuan, Jin Wu
{"title":"A Novel <i>SRD5A2</i> Loss-of-Function Variant in a Chinese Child with 5α-Reductase type 2 Deficiency.","authors":"Peng Zhou, Juanjuan Lyu, Xiaomei Sun, Ying Liu, Chuanjie Yuan, Jin Wu","doi":"10.4274/jcrpe.galenos.2024.2024-8-9","DOIUrl":"https://doi.org/10.4274/jcrpe.galenos.2024.2024-8-9","url":null,"abstract":"<p><p>Differences or disorders of sex development (DSD) represent a range of congenital conditions that lead to discrepancies among a person's sex chromosomes, gonads, and anatomical sex. Variants in the SRD5A2 gene can lead to 5-alpha-reductase type 2 (5α-RD2) deficiency, a condition within the DSD spectrum. Here, we report a case of 5α-RD2 deficiency in a Chinese child, resulting from a newly identified compound heterozygous variant in SRD5A2. The proband, a 2-month-old child assigned female at birth, was initially observed to have bilateral hypertrophy of the labial folds during routine child healthcare visits at a local hospital. An ultrasound scan revealed testicular structures on both sides of the labial folds. The testosterone (T)/dihydrotestosterone (DHT) ratio after stimulation was 37, consistent with 5α-RD2 deficiency. Whole-exome sequencing and copy number variation analysis identified a novel compound heterozygous variant in SRD5A2, consisting of a 175.06 Kb deletion (including exon 1) located at chr2:31802204-31977267 and a c.607G>A (p.G203S) point mutation. Cytogenetic analysis confirmed a 46,XY karyotype. This case highlights a previously unreported compound heterozygous variant in SRD5A2 associated with 5α-RD2 deficiency in a Chinese child.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2025-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143568608","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}
引用次数: 0
Endocrine Implications of Congenital Disorders of Glycosylation. 先天性糖基化紊乱对内分泌的影响。
IF 1.5 4区 医学
Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2025-02-20 DOI: 10.4274/jcrpe.galenos.2025.2024-10-7
Yağmur Ünsal, Zeynep Alev Özön
{"title":"Endocrine Implications of Congenital Disorders of Glycosylation.","authors":"Yağmur Ünsal, Zeynep Alev Özön","doi":"10.4274/jcrpe.galenos.2025.2024-10-7","DOIUrl":"https://doi.org/10.4274/jcrpe.galenos.2025.2024-10-7","url":null,"abstract":"<p><p>Glycosylation, attachment of monosaccharides or glycans to select residues of proteins and lipids, is the most common post-translational modification. Defects among glycoprotein synthesis or modification pathways result in genetically and clinically heterogenous group of metabolic disorders, congenital disorders of glycosylation (CDGs) with an estimated prevalence of 1/10,000. They have multisystem involvement where significant neurologic dysfunction is frequent with variable impairment of other organ functions. Most of the proteins responsible for endocrine homeostasis are essentially glycoproteins so disorders of glycosylation have an impact on hormone secretory pathways, changing hormone and carrier protein stability, circulatory half-live and abundance, alternating receptor configuration, activation, hormone-substrate affinity, resetting endocrine control and feedback loops. Endocrine implications of CDGs are extensive and are described in up to 55% of all patients with CDGs during natural course of the disease. This frequency is increased up to 85% in some CDG subgroups. Impact on growth and growth factors, thyroid hormones, hypothalamo-pituitary-adrenal axis, hypothalamo-pituitary-gonadaxis, glucose metabolism, bone health and prolactin have been reported, yet clinical studies are scarce, and data mostly derived from case series. This review aims to describe up to date data on endocrine implications of CDGs focusing on both preclinical and clinical studies underlining broad spectrum of findings. Clinical and laboratory findings of CDGs and the effect of current treatment strategies on endocrine implications will be briefly discussed.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143460367","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}
引用次数: 0
Automatic Bone Age Determination in Adult Height Prediction for Girls with Early Variants Puberty and Precoccious Puberty. 自动骨龄测定在青春期早期变异和性早熟女孩成人身高预测中的应用。
IF 1.5 4区 医学
Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2025-02-20 DOI: 10.4274/jcrpe.galenos.2025.2024-7-24
Murat Huseyin Yigit, Elif Eviz, Sukru Hatun, Gul Yesiltepe Mutlu
{"title":"Automatic Bone Age Determination in Adult Height Prediction for Girls with Early Variants Puberty and Precoccious Puberty.","authors":"Murat Huseyin Yigit, Elif Eviz, Sukru Hatun, Gul Yesiltepe Mutlu","doi":"10.4274/jcrpe.galenos.2025.2024-7-24","DOIUrl":"https://doi.org/10.4274/jcrpe.galenos.2025.2024-7-24","url":null,"abstract":"<p><strong>Introduction: </strong>In cases of precocious puberty, the determination of bone age (BA) is usually performed by clinicians using the Greulich Pyle (GP) atlas, and there can be significant variation between assessors. The aim of this study is to compare predicted adult height (PAH) calculations based on BA read by the automated bone age method (BoneXpert) with clinician-determined BA-based PAH calculations.</p><p><strong>Method: </strong>A total of forty-four girls who presented with suspicion of precoccious puberty and normal pubertal variants such as premature thelarche and premature adrenarche, and whose BA determined by both BoneXpert and two different clinicians were followed-up until reaching near final height (NFH). Those whose breast development started before the age of 8 years were considered as precocious puberty. Four PAH calculations were performed with 2 different estimated height calculation methods [Bayley Pineau-BP and Roche-Wainer-Thissen-RWT] based on two different BA predictions [Clinician-GP and BoneXpert-GP). PAH-standard deviation score (PAH-SDS) and NFH-SDS values of the patients were compared.</p><p><strong>Results: </strong>The median chronological age at the presentation was 9.3 years, while the median BA was 10.4 years and 10.6 years according to Clinician-GP and BoneXpert-GP, respectively; mean height-SDS was 0.75 and TH-SDS was -0.28. When they reached NFH, the height-SDS was -0.02. Final analyzes were performed on 26 cases who did not have low birth weight and did not receive puberty arresting treatment. Delta PAH-SDS - NFH-SDS (Δ-SDS) was compared according to 4 different PAH values. The closest PAH-SDS value measurement to NFH-SDS was calculated by BP based on BA determined by the BX-GP method (-0.09).</p><p><strong>Conclusion: </strong>PAH calculations using the BP method based on BoneXpert-derived GP readings most accurately predict near-final height in girls with precocious puberty, and normal pubertal variants.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143460364","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}
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