Journal of Clinical Research in Pediatric Endocrinology最新文献

筛选
英文 中文
Pediatric Complete Androgen Insensitivity Syndrome (CAIS): Clinical Presentation, Hormonal Profiles, and Gonadal Management 儿科完全雄激素不敏感综合征(CAIS):临床表现,激素概况和性腺管理。
IF 1.9 4区 医学
Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2026-07-01 Epub Date: 2025-10-30 DOI: 10.4274/jcrpe.galenos.2025.2025-5-7
Elzbieta Marczak, Maria Szarras-Czapnik, Agata Skórka, Kinga Kowalczyk, Gabriela Grochowska, Malgorzata Walewska-Wolf, Barbara Antoniak, Katarzyna Bajszczak, Elżbieta Moszczyńska
{"title":"Pediatric Complete Androgen Insensitivity Syndrome (CAIS): Clinical Presentation, Hormonal Profiles, and Gonadal Management","authors":"Elzbieta Marczak, Maria Szarras-Czapnik, Agata Skórka, Kinga Kowalczyk, Gabriela Grochowska, Malgorzata Walewska-Wolf, Barbara Antoniak, Katarzyna Bajszczak, Elżbieta Moszczyńska","doi":"10.4274/jcrpe.galenos.2025.2025-5-7","DOIUrl":"10.4274/jcrpe.galenos.2025.2025-5-7","url":null,"abstract":"<p><strong>Objective: </strong>Complete androgen insensitivity syndrome (CAIS) is caused by mutations in the <i>androgen receptor (AR)</i> gene, leading to androgen resistance. Early recognition is critical for optimal management. To evaluate clinical presentations, hormonal profiles, genetic characteristics, and decisions regarding gonadectomy in pediatric CAIS. Factors influencing gonadectomy, including malignancy risk, gonadal function, and psychological well-being were assessed.</p><p><strong>Methods: </strong>Medical records of 16 children with genetically confirmed CAIS patients, aged 3 days-18 years, diagnosed between 2004 and 2024 at a tertiary referral center were retrospectively reviewed. Clinical, hormonal, genetic, and histological data were analyzed.</p><p><strong>Results: </strong>Twelve patients (75%) were diagnosed prepubertally, most commonly due to inguinal hernia. Familial recurrence occurred in four cases (25%). Novel pathogenic AR variants not previously reported in public databases were identified in three patients. Prepubertal patients with hormone data (n=5) demonstrated Anti-Müllerian hormone>150 pM. Pubertal patients (n=9) had markedly elevated testosterone levels [median at 1361.3 ng/dL, range 367-3460 ng/dL]. Gonadal biopsy was performed in three cases (19%). Gonadal preservation was recommended in 11 children (69%), while five (31%) underwent gonadectomy followed by estrogen replacement therapy.</p><p><strong>Conclusion: </strong>Most CAIS cases in this pediatric cohort were detected early through inguinal hernia or family screening. Delayed gonadectomy allowed spontaneous pubertal development and feminization. While gonadectomy results in lifelong hormone dependence and may raise identity-related concerns, surveillance-based gonadal preservation appears safe during childhood. The identification of novel <i>AR</i> variants expands the mutational spectrum of CAIS and highlights the need for multicenter registries and improved biomarkers to optimize individualized care.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"273-281"},"PeriodicalIF":1.9,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13325819/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145402269","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
Challenges in Sex Assignment in 46,XX Congenital Adrenal Hyperplasia due to 21-hydroxylase Deficiency and 11β-hydroxylase Deficiency in Developing Countries: Insights from an Expert Center in Indonesia 发展中国家由于21-羟化酶缺乏症和11 - β-羟化酶缺乏症导致的46,XX先天性肾上腺增生症性别分配的挑战:来自印度尼西亚专家中心的见解。
IF 1.9 4区 医学
Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2026-07-01 Epub Date: 2025-10-24 DOI: 10.4274/jcrpe.galenos.2025.2025-7-5
Irene Astrid Larasati, Agustini Utari, Annastasia Ediati, Hedi L. Claahsen van der Grinten, Tri Indah Winarni
{"title":"Challenges in Sex Assignment in 46,XX Congenital Adrenal Hyperplasia due to 21-hydroxylase Deficiency and 11β-hydroxylase Deficiency in Developing Countries: Insights from an Expert Center in Indonesia","authors":"Irene Astrid Larasati, Agustini Utari, Annastasia Ediati, Hedi L. Claahsen van der Grinten, Tri Indah Winarni","doi":"10.4274/jcrpe.galenos.2025.2025-7-5","DOIUrl":"10.4274/jcrpe.galenos.2025.2025-7-5","url":null,"abstract":"<p><strong>Objective: </strong>The absence of newborn screening, insufficient knowledge among medical professionals, and poor treatment adherence in congenital adrenal hyperplasia (CAH) in Indonesia causes late diagnosis. This study presents two decades of experience in gender assignment and diagnosis of 46,XX CAH.</p><p><strong>Methods: </strong>A cohort study was carried out at a CAH referral center in Central Java, Indonesia. Data regarding clinical outcomes, molecular analysis, and sociodemographic information were taken from medical records. Participants were grouped based on current social gender, females and males. Gender at diagnosis, age at first presentation, age at first diagnosis, age at present, CAH types, virilization, puberty, birth attendant, and gender at birth decision maker significantly predict current gender identity.</p><p><strong>Results: </strong>Among 131 individuals with 46,XX CAH, 52 (39.7%) with a sex assignment incongruent with their karyotype were included. The majority (49/52; 94.2%) had 21-hydroxylase deficiency (21OHD), while three (5.8%) had 11 beta-hydroxylase deficiency (11OHD). Individuals assigned as males at birth (3/52) had severe virilization. A change of gender occurred in 46 of 52 patients (88.46%). Midwives were the most frequent birth attendants (24/51), while pediatricians were the major decision-makers (19/51) of sex assignment.</p><p><strong>Conclusion: </strong>In Indonesia, many 46,XX individuals with CAH were initially assigned as males due to late diagnosis, primarily caused by low awareness among healthcare professionals and exacerbated by limited medical resources and a lack of clear guidelines on sex assignment. Therefore, targeted education and standardized guidelines involving a multidisciplinary team are crucial to ensure appropriate sex assignment and care.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"261-272"},"PeriodicalIF":1.9,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13325899/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145356610","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
Single-Center Experience in Five Patients Diagnosed with Lipoid Congenital Adrenal Hyperplasia due to Steroidogenic Acute Regulatory Protein (STAR) Gene Variants: A Rare Cause of Adrenal Insufficiency 5例由甾体性急性调节蛋白(STAR)基因变异引起的脂质先天性肾上腺增生患者的单中心研究:一种罕见的肾上腺功能不全的病因。
IF 1.9 4区 医学
Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2026-07-01 Epub Date: 2025-11-20 DOI: 10.4274/jcrpe.galenos.2025.2025-9-15
Kürşat Çetin, Zeynep Donbaloğlu, Yasemin Funda Bahar, Ali Tırtar, Sezin Yakut Uzuner, Mesut Parlak, Hale Tuhan
{"title":"Single-Center Experience in Five Patients Diagnosed with Lipoid Congenital Adrenal Hyperplasia due to <i>Steroidogenic Acute Regulatory Protein (STAR)</i> Gene Variants: A Rare Cause of Adrenal Insufficiency","authors":"Kürşat Çetin, Zeynep Donbaloğlu, Yasemin Funda Bahar, Ali Tırtar, Sezin Yakut Uzuner, Mesut Parlak, Hale Tuhan","doi":"10.4274/jcrpe.galenos.2025.2025-9-15","DOIUrl":"10.4274/jcrpe.galenos.2025.2025-9-15","url":null,"abstract":"<p><p>Lipoid congenital adrenal hyperplasia (LCAH) is the rarest and most severe form of congenital adrenal hyperplasia (CAH), characterized by impaired adrenal and gonadal steroidogenesis. This case series presents our clinical experience with five pediatric patients diagnosed with LCAH due to mutations in the <i>steroidogenic acute regulatory protein (STAR)</i> gene. Clinical and laboratory data from five patients diagnosed with LCAH and followed at the Pediatric Endocrinology Clinic of Akdeniz University Faculty of Medicine Hospital between January 2020 and May 2025 were retrospectively reviewed. The patients, aged 7 days to 6 months, all exhibited a female phenotype and presented with vomiting and feeding difficulties. Three showed hyperpigmentation. Severe hyponatremia, hyperkalemia, elevated adrenocorticotropic hormone and renin activity, and low cortisol were observed. Aldosterone and 17-hydroxyprogesterone were normal; testosterone and precursors were low. Imaging showed bilateral adrenal lipoid infiltration and hyperplasia. Karyotypes included 46,XX (n=3) and 46,XY (n=2). STAR gene mutations identified were c.505G>A, c.33del, and c.288G>T. All received hydrocortisone and fludrocortisone and all survived without morbidity. LCAH is a rare genetic disorder that can present with life-threatening adrenal insufficiency. However, as demonstrated in these cases, early diagnosis and appropriate treatment can lead to excellent outcomes.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"305-313"},"PeriodicalIF":1.9,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13325897/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145558087","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
Response to Letter to the Editor "Sleep hygiene in pediatric patients with steatotic liver disease". 对“小儿脂肪变性肝病患者的睡眠卫生”致编辑的回复。
IF 1.9 4区 医学
Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2026-07-01 DOI: 10.4274/jcrpe.galenos.2026.2026-4-25
Behzat Ozkan, Ulas Emre Akbulut
{"title":"Response to Letter to the Editor \"Sleep hygiene in pediatric patients with steatotic liver disease\".","authors":"Behzat Ozkan, Ulas Emre Akbulut","doi":"10.4274/jcrpe.galenos.2026.2026-4-25","DOIUrl":"10.4274/jcrpe.galenos.2026.2026-4-25","url":null,"abstract":"","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":"18 2","pages":"372-373"},"PeriodicalIF":1.9,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13326009/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148377651","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
Current Approaches and Therapeutic Strategies for Hypothalamic Syndrome in Patients with Childhood-onset Craniopharyngioma. 儿童期颅咽管瘤患者下丘脑综合征的当前途径和治疗策略。
IF 1.9 4区 医学
Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2026-07-01 Epub Date: 2026-01-15 DOI: 10.4274/jcrpe.galenos.2025.2025-12-12
Hermann L Müller
{"title":"Current Approaches and Therapeutic Strategies for Hypothalamic Syndrome in Patients with Childhood-onset Craniopharyngioma.","authors":"Hermann L Müller","doi":"10.4274/jcrpe.galenos.2025.2025-12-12","DOIUrl":"10.4274/jcrpe.galenos.2025.2025-12-12","url":null,"abstract":"<p><p>Patients diagnosed with craniopharyngioma often experience rapid and pronounced weight gain that can progress to severe hypothalamic obesity. This phenomenon is predominantly attributed to disruption of critical hypothalamic regulatory circuits, caused either by direct tumor infiltration or by treatment-related injury. Hypothalamic obesity is best conceptualized within the broader framework of hypothalamic syndrome, a complex clinical disorder encompassing multiple neuroendocrine deficits, impairments in circadian homeostasis, dysregulation of hunger, satiety, and thirst mechanisms, disturbances in thermoregulatory control, and a wide range of cognitive, sleep-related, and psychosocial abnormalities. Hypothalamic syndrome may also develop secondary to nonmalignant parasellar pathologies, including germ cell tumors, gliomas, Rathke’s cleft cyst, and Langerhans cell histiocytosis, as well as traumatic hypothalamic injury following traumatic brain insult. Long- term prognosis is frequently poor, driven by elevated risks of metabolic syndrome, cardiovascular disease, diminished health-related quality of life, and increased rates of premature mortality. Management remains particularly challenging. Recently, a personalized and risk-stratified therapeutic framework has been proposed to guide clinical decision-making and optimize outcomes. Several pharmacologic interventions, such as centrally acting stimulants, glucagon-like peptide-1 receptor agonists, and the melanocortin-4 receptor agonist setmelanotide, have demonstrated potential in promoting weight reduction. Bariatric surgery may also yield clinical benefit; however, the use of irreversible procedures in pediatric populations presents substantial ethical and legal challenges. There remains an urgent need for therapeutic strategies that emphasize preservation of hypothalamic structure and function, alongside continued research into targeted and emerging interventions for more effective management of hypothalamic syndrome.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"186-202"},"PeriodicalIF":1.9,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13325933/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145971371","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
Peer Victimization and Psychological Outcomes in Adolescents with Pubertal Gynecomastia: A Case-Control Study 青春期男性乳房发育症青少年的同伴伤害和心理结果:一项病例对照研究。
IF 1.9 4区 医学
Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2026-07-01 Epub Date: 2025-12-04 DOI: 10.4274/jcrpe.galenos.2025.2025-10-3
Yasin Çalışkan, Zümrüt Kocabey Sütçü, Emel Hatun Aytaç Kaplan
{"title":"Peer Victimization and Psychological Outcomes in Adolescents with Pubertal Gynecomastia: A Case-Control Study","authors":"Yasin Çalışkan, Zümrüt Kocabey Sütçü, Emel Hatun Aytaç Kaplan","doi":"10.4274/jcrpe.galenos.2025.2025-10-3","DOIUrl":"10.4274/jcrpe.galenos.2025.2025-10-3","url":null,"abstract":"<p><strong>Objective: </strong>Pubertal gynecomastia is associated with psychosocial consequences including anxiety, depression, and body image disturbances. However systematic examination of bullying experiences and their psychological correlates in adolescents with gynecomastia remains limited. The aim of this study was to investigate peer victimization prevalence and its relationship with psychological outcomes in this vulnerable population.</p><p><strong>Methods: </strong>This case-control study included male adolescents aged 10-17 years, comprising half with gynecomastia and half healthy controls. Gynecomastia diagnosis and severity were assessed using clinical examination and Rohrich classification. Participants completed validated Turkish versions of the Olweus Bully/Victim Questionnaire, Rosenberg Self-Esteem Scale, and Revised Child Anxiety and Depression Scale.</p><p><strong>Results: </strong>A total of 155 adolescents were included, with 78 (50.3%) having gynecomastia and the remaining 77 being healthy. Adolescents with gynecomastia demonstrated significantly higher peer victimization rates compared to controls (34.6% versus 16.9%, p=0.012), with markedly increased victim-perpetrator status (12.8% versus 1.3%, p=0.005). Gynecomastia diagnosis increased victimization risk 2.63-fold (95% confidence interval: 1.076-6.436, p=0.034). Victimized participants exhibited elevated anxiety and depression scores across multiple symptom domains (p<0.05). Behavioral modifications were prevalent, including altered clothing preferences (58.9%), changing room avoidance (44.8%), and swimming avoidance (41.0%).</p><p><strong>Conclusion: </strong>Adolescents with gynecomastia experienced substantially elevated peer victimization with consequential psychological impact in this cohort. These findings suggest the importance of routine bullying assessment during clinical evaluation and implementation of comprehensive psychosocial screening protocols with early intervention strategies.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"296-304"},"PeriodicalIF":1.9,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13325677/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145670361","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
Acute Kidney Injury after Thyroid Hormone Withdrawal in an Adolescent with Papillary Thyroid Carcinoma 甲状腺乳头状癌青少年停用甲状腺激素后的急性肾损伤
IF 1.9 4区 医学
Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2026-07-01 Epub Date: 2024-02-20 DOI: 10.4274/jcrpe.galenos.2024.2023-11-10
Yavuz Özer, Rüveyda Gülmez, Hande Turan, Gürkan Tarçın, Dilek Bingöl Aydın, Olcay Evliyaoğlu, Oya Ercan
{"title":"Acute Kidney Injury after Thyroid Hormone Withdrawal in an Adolescent with Papillary Thyroid Carcinoma","authors":"Yavuz Özer, Rüveyda Gülmez, Hande Turan, Gürkan Tarçın, Dilek Bingöl Aydın, Olcay Evliyaoğlu, Oya Ercan","doi":"10.4274/jcrpe.galenos.2024.2023-11-10","DOIUrl":"10.4274/jcrpe.galenos.2024.2023-11-10","url":null,"abstract":"<p><p>We report a patient with papillary thyroid carcinoma (PTC) who developed acute kidney injury (AKI) and elevated creatine kinase (CK) after thyroid hormone withdrawal (THW) prior to radioiodine therapy. A 12-year-old female patient who had undergone total thyroidectomy for PTC one year previously, presented with leg pain for the past two days. Following THW three weeks earlier, she had received 70 mCi radioiodine treatment six days before this presentation. Serum creatinine [1.53 mg/dL, normal range (NR): 0.3-1.1], aspartate aminotransferase (102 IU/L, NR: 0-40) and CK (3451 IU/L, NR: 26-174) levels were elevated. Thyrotropin level was elevated (μIU/mL, NR: 0.51-4.3), and free T4 level was decreased (0.05 ng/dL, NR: 0.98-1.63). Serum creatinine and CK levels decreased after intravenous hydration and levothyroxine treatment. In PTC cases with thyroidectomy, kidney function and CK elevation should be assessed after THW and dehydration should be prevented.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"342-345"},"PeriodicalIF":1.9,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13325582/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139906671","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
Exploring Multiple Endocrinological Issues and Dysautonomia in a Rare Case: Hypoparathyroidism in MIRAGE Syndrome 探索罕见病例中的多种内分泌问题和自主神经功能障碍:MIRAGE 综合征中的甲状旁腺功能减退症。
IF 1.9 4区 医学
Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2026-07-01 Epub Date: 2024-03-26 DOI: 10.4274/jcrpe.galenos.2024.2023-12-4
Sirmen Kızılcan Çetin, Elif Özsu, Zeynep Şıklar, Hasan Fatih Çakmaklı, Gizem Şenyazar, Zehra Aycan, Serdar Ceylaner, Merih Berberoğlu
{"title":"Exploring Multiple Endocrinological Issues and Dysautonomia in a Rare Case: Hypoparathyroidism in MIRAGE Syndrome","authors":"Sirmen Kızılcan Çetin, Elif Özsu, Zeynep Şıklar, Hasan Fatih Çakmaklı, Gizem Şenyazar, Zehra Aycan, Serdar Ceylaner, Merih Berberoğlu","doi":"10.4274/jcrpe.galenos.2024.2023-12-4","DOIUrl":"10.4274/jcrpe.galenos.2024.2023-12-4","url":null,"abstract":"<p><p>MIRAGE syndrome is a rare multisystemic disorder characterized by the following manifestations: myelodysplasia, susceptibility to infections, growth retardation, adrenal hypoplasia, genital anomalies, and enteropathy. Dysautonomia has also been reported, but rarely. We present a 6.5-year-old girl, who was first admitted with short stature. On follow-up, she exhibited multiple endocrinological issues, including transient hypothyroidism, primary hypoparathyroidism and dysautonomia, along with multisystem involvement. Further investigations revealed recurrent moniliasis, low IgM levels, and transient monosomy 7 in the bone marrow. Whole exome sequencing revealed a heterozygous pathogenic variant of SAMD9 (c.2159del; p.Asn720ThrfsTer35). Additional complications observed during follow-up included medullary nephrocalcinosis, hypomagnesemia, hypomagnesuria, hypophosphatemia, decreased glomerular filtration rate, and nephrotic proteinuria. The patient also developed hyperglycemia, which was managed with low-dose insulin. This case highlights the diagnostic challenges and the diverse phenotypic presentation that may occur in MIRAGE syndrome.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"351-357"},"PeriodicalIF":1.9,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13325566/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140289358","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
A Comparative Assessment of Large Language Models in Congenital Hypothyroidism: Reliability, Quality and Readability 先天性甲状腺功能减退症大语言模型的比较评估:可靠性、质量和可读性。
IF 1.9 4区 医学
Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2026-07-01 Epub Date: 2026-04-21 DOI: 10.4274/jcrpe.galenos.2026.2026-1-15
Ebru Barsal Çetiner, Berna Singin
{"title":"A Comparative Assessment of Large Language Models in Congenital Hypothyroidism: Reliability, Quality and Readability","authors":"Ebru Barsal Çetiner, Berna Singin","doi":"10.4274/jcrpe.galenos.2026.2026-1-15","DOIUrl":"10.4274/jcrpe.galenos.2026.2026-1-15","url":null,"abstract":"<p><strong>Objective: </strong>To comparatively evaluate the reliability, quality, and readability of responses generated by widely used large language model (LLM)-based chatbots to congenital hypothyroidism (CH)-related patient questions.</p><p><strong>Methods: </strong>Forty frequently asked questions (FAQs) about CH, derived from clinician-reviewed patient education resources, were submitted under standardized conditions (December 2025) to Chat Generative Pre-Trained Transformer-4 (ChatGPT-4), ChatGPT-5.2, Gemini, and Copilot. The modified DISCERN (mDISCERN) instrument was used to assess reliability, whereas the Global Quality Score (GQS) was used to evaluate quality. Readability was evaluated using Flesch Reading Ease (FRE), Flesch-Kincaid Grade Level (FKGL), Gunning Fog Index (GFI), Coleman-Liau Index (CLI), and Simple Measure of Gobbledygook (SMOG). Scores were compared using Friedman tests with Bonferroni-corrected post-hoc analyses.</p><p><strong>Results: </strong>Median mDISCERN scores were 5.0 for ChatGPT-4, ChatGPT-5.2, and Gemini, and 4.0 for Copilot. Median GQS scores were 5.0 for ChatGPT-4, ChatGPT-5.2, and Gemini, and 4.0 for Copilot. Differences among models were significant for both mDISCERN and GQS (p<0.001), with ChatGPT-5.2 outperforming others in key pairwise comparisons. Readability differed significantly across all indices (all p<0.001). ChatGPT-5.2 demonstrated the highest FRE and lowest FKGL, whereas Gemini produced the most complex text. However, all models exceeded the recommended sixth-grade reading level.</p><p><strong>Conclusion: </strong>LLM-based chatbots produced generally moderate-to-high quality CH information, but readability remains suboptimal for patient education. ChatGPT-5.2 showed the best overall performance. LLM outputs may support patient information needs but should complement, not replace, clinician-provided counseling.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"333-341"},"PeriodicalIF":1.9,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13325583/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147730428","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
Internal Inconsistency Between the Reported 50th Percentile Value and the LMS Median Parameter 报告的第50百分位值与LMS中位数参数之间的内部不一致。
IF 1.9 4区 医学
Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2026-07-01 Epub Date: 2026-03-09 DOI: 10.4274/jcrpe.galenos.2026.2026-2-17
Abdullah Teksan
{"title":"Internal Inconsistency Between the Reported 50<sup>th</sup> Percentile Value and the LMS Median Parameter","authors":"Abdullah Teksan","doi":"10.4274/jcrpe.galenos.2026.2026-2-17","DOIUrl":"10.4274/jcrpe.galenos.2026.2026-2-17","url":null,"abstract":"","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"368"},"PeriodicalIF":1.9,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13325678/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147379365","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
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
相关产品
×
本文献相关产品
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:604180095
Book学术官方微信
小红书