Hormone Research in Paediatrics最新文献

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Re: Erbas IM: Reconsidering the Interpretation of Thyroid Cancer Risk in Pediatric Hashimoto Thyroiditis. Re: Erbas IM:重新考虑儿童桥本甲状腺炎甲状腺癌风险的解释。
IF 3.8 3区 医学
Hormone Research in Paediatrics Pub Date : 2026-10-19 DOI: 10.1159/hrp/adaag045
Giorgio Radetti
{"title":"Re: Erbas IM: Reconsidering the Interpretation of Thyroid Cancer Risk in Pediatric Hashimoto Thyroiditis.","authors":"Giorgio Radetti","doi":"10.1159/hrp/adaag045","DOIUrl":"https://doi.org/10.1159/hrp/adaag045","url":null,"abstract":"","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1"},"PeriodicalIF":3.8,"publicationDate":"2026-10-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149223890","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Clinical and genetic heterogeneity of Triple A syndrome: a multicenter study. aaa综合征的临床和遗传异质性:一项多中心研究。
IF 3.8 3区 医学
Hormone Research in Paediatrics Pub Date : 2026-10-16 DOI: 10.1159/hrp/adaag030
Dilek Celebi, Aslihan Kiraz, Zakhiriddin Khojakulov, Ayse Caglar Sarilar, Muserref Basdemirci, Elif Yilmaz Gulec, Ozlem Oz, Irem Kalay, Mustafa Dogan, Bilgen Bilge Geçkinli, Ipek Sahin, Mustafa Yakubi, Leyla Nur Yilmaz, Elifcan Tasdelen, Asli Ciplakligil, Alper Gezdirici, Friederike Quitter, Esra Hilal Ceylan, Aydeniz Aydin Gumus, Katrin Koehler, Abdulkerim Kolkiran, Firdevs Dinçsoy Bir, Tülay Güran, Hasan Onal, Angela Huebner, Nazli Ayse Basak, Munis Dundar
{"title":"Clinical and genetic heterogeneity of Triple A syndrome: a multicenter study.","authors":"Dilek Celebi, Aslihan Kiraz, Zakhiriddin Khojakulov, Ayse Caglar Sarilar, Muserref Basdemirci, Elif Yilmaz Gulec, Ozlem Oz, Irem Kalay, Mustafa Dogan, Bilgen Bilge Geçkinli, Ipek Sahin, Mustafa Yakubi, Leyla Nur Yilmaz, Elifcan Tasdelen, Asli Ciplakligil, Alper Gezdirici, Friederike Quitter, Esra Hilal Ceylan, Aydeniz Aydin Gumus, Katrin Koehler, Abdulkerim Kolkiran, Firdevs Dinçsoy Bir, Tülay Güran, Hasan Onal, Angela Huebner, Nazli Ayse Basak, Munis Dundar","doi":"10.1159/hrp/adaag030","DOIUrl":"https://doi.org/10.1159/hrp/adaag030","url":null,"abstract":"<p><p>Triple A syndrome (AAAS) is a rare autosomal recessive neuroendocrine disorder caused by pathogenic variants in the AAAS gene and characterized by marked clinical heterogeneity. In this multicenter retrospective study, we analyzed 23 patients from 18 families diagnosed across nine centers in Türkiye to characterize the molecular and clinical features of AAAS. Six distinct vari-ants in the AAAS gene were identified in this cohort, with truncating variants predominating. The most frequent variant was c.1066_1067delCT (p.Leu356Valfs*8), detected in 7 of 18 families, followed by the nonsense variant c.1432C>T (p.Arg478*), identified in 6 families. Clinically, the most common initial presenting complaints were alacrima (6/23), achalasia (5/23), and ad-renal insufficiency (4/23). Cumulative assessment during follow-up revealed the complete clas-sic triad in 15/23 patients. Neurological involvement was frequent and showed an age-dependent pattern, with manifestations such as dysarthria (5/23) and autonomic dysfunction in-cluding anhidrosis (7/23); gait disturbance (8/23) was also commonly observed. Other frequent clinical findings included hyperpigmentation (12/23), short stature (11/23), palmoplantar hyper-keratosis (6/23), and microcephaly (4/23). Mineralocorticoid deficiency was reported in 7/23 patients based on physician documentation, six of whom had concomitant glucocorticoid defi-ciency. This multicenter cohort highlights the marked clinical variability of AAAS, including progressive neurological involvement and heterogeneity in the recognition and biochemical presentation of mineralocorticoid dysfunction. Keywords: Triple A syndrome; AAAS variant; adrenal insufficiency; mineralocorticoid deficien-cy; alacrima; achalasia.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1"},"PeriodicalIF":3.8,"publicationDate":"2026-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149206781","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Reconsidering the Interpretation of Thyroid Cancer Risk in Pediatric Hashimoto Thyroiditis. 重新考虑儿童桥本甲状腺炎甲状腺癌风险的解释。
IF 3.8 3区 医学
Hormone Research in Paediatrics Pub Date : 2026-10-16 DOI: 10.1159/hrp/adaag044
Ibrahim Mert Erbas
{"title":"Reconsidering the Interpretation of Thyroid Cancer Risk in Pediatric Hashimoto Thyroiditis.","authors":"Ibrahim Mert Erbas","doi":"10.1159/hrp/adaag044","DOIUrl":"https://doi.org/10.1159/hrp/adaag044","url":null,"abstract":"","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1"},"PeriodicalIF":3.8,"publicationDate":"2026-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149206816","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Calcium Overload in Trisomy 21: An Underrecognized Cause of Persistent Hypercalcaemia - A Case Report. 21三体的钙超载:持续高钙血症的一个未被认识的原因-一个病例报告。
IF 3.8 3区 医学
Hormone Research in Paediatrics Pub Date : 2026-10-15 DOI: 10.1159/hrp/adaag039
Julian Schirl, Rodrigo Montero-Lopez, Alexandra Blaschitz, Wolfgang Högler
{"title":"Calcium Overload in Trisomy 21: An Underrecognized Cause of Persistent Hypercalcaemia - A Case Report.","authors":"Julian Schirl, Rodrigo Montero-Lopez, Alexandra Blaschitz, Wolfgang Högler","doi":"10.1159/hrp/adaag039","DOIUrl":"https://doi.org/10.1159/hrp/adaag039","url":null,"abstract":"<p><strong>Introduction: </strong>Calcium overload in trisomy 21 is a rare and underrecognized cause of persistent parathyroid hormone (PTH)-independent hypercalcaemia in infants and young children with Down syndrome. Characteristic features include hypercalciuria, nephrocalcinosis, renal impairment, and failure to thrive. Delayed recognition may result in avoidable long-term complications.</p><p><strong>Case presentation: </strong>A 21-month-old boy with trisomy 21 presented with a six-month history of recurrent vomiting, feeding difficulties, and failure to thrive. Bilateral nephrocalcinosis was detected incidentally on abdominal ultrasound. Laboratory evaluation revealed marked hypercalcaemia with suppressed PTH and 1,25(OH)₂D, hypercalciuria, and acute kidney injury. Extensive diagnostic work-up excluded alternative causes of PTH-independent hypercalcaemia. Nutritional assessment showed an almost exclusively milk-based diet with minimal solid food intake. Initial treatment with intravenous fluids and a single dose of pamidronate resulted in only transient improvement. Following the diagnosis of calcium overload, a calcium-restricted diet consisting of normal and low-calcium formula was introduced and adjusted according to biochemical response. Serum calcium normalized and remained stable throughout 11 months of follow-up. Growth and developmental progress improved, while nephrocalcinosis persisted and renal function partially recovered.</p><p><strong>Conclusion: </strong>Calcium overload in trisomy 21 should be considered in young children with Down syndrome presenting with failure to thrive, recurrent vomiting, and nephrocalcinosis in combination with PTH-independent hypercalcemia. Early recognition and initiation of dietary calcium restriction may prevent long-term complications such as chronic kidney disease and prolonged growth impairment.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1"},"PeriodicalIF":3.8,"publicationDate":"2026-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149193253","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Weight Maintenance Following Discontinuation of Semaglutide in an Adolescent with Antipsychotic-Associated Weight Gain: A Case Report. 停用西马鲁肽后体重维持的青少年与抗精神病药物相关的体重增加:一个案例报告。
IF 3.8 3区 医学
Hormone Research in Paediatrics Pub Date : 2026-10-12 DOI: 10.1159/hrp/adaag040
Emily Griffing, Elizabeth Dabrowski
{"title":"Weight Maintenance Following Discontinuation of Semaglutide in an Adolescent with Antipsychotic-Associated Weight Gain: A Case Report.","authors":"Emily Griffing, Elizabeth Dabrowski","doi":"10.1159/hrp/adaag040","DOIUrl":"https://doi.org/10.1159/hrp/adaag040","url":null,"abstract":"<p><strong>Introduction: </strong>Antipsychotic-induced weight gain (AIWG) presents a significant clinical challenge in pediatric psychiatry, often leading to Class II or III obesity and metabolic comorbidities. While treatment with metformin is the current standard of care, its efficacy is often modest. Preclinical and translational data suggest that, by targeting the underlying cause of AIWG, GLP-1Ras may help restore satiety signaling that is disrupted in patients taking antipsychotics.</p><p><strong>Case presentation: </strong>We describe an adolescent who experienced profound weight gain following aripiprazole treatment which was successfully managed with semaglutide. Notably, after achieving therapeutic goals of normalization of body mass index (BMI) and hemoglobin A1c, the patient was able to discontinue semaglutide while maintaining her weight loss and normalization of hemoglobin A1c over six months of follow-up.</p><p><strong>Conclusion: </strong>This single case raises the hypothesis that GLP-1RAs could serve as a temporary \"bridge therapy\" to counteract iatrogenic metabolic insults; given the confounding factors discussed below, this observation is hypothesis-generating and requires confirmation in larger, prospective studies before broader clinical application.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1"},"PeriodicalIF":3.8,"publicationDate":"2026-10-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149167074","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Thyroid Abnormalities in a Prospective Longitudinal Cohort of Pediatric Patients following SARS-CoV-2 infection. SARS-CoV-2感染后儿科患者前瞻性纵向队列中的甲状腺异常
IF 3.8 3区 医学
Hormone Research in Paediatrics Pub Date : 2026-10-12 DOI: 10.1159/hrp/adaag041
Roopa Kanakatti Shankar, Priya Vaidyanathan, Gina Montealegre Sanchez, Eric Chu, Shera Weyers, Max Wolff, James E Bost, Luigi D Notarangelo, C Jason Liang, Roberta DeBiasi, Karyl Barron
{"title":"Thyroid Abnormalities in a Prospective Longitudinal Cohort of Pediatric Patients following SARS-CoV-2 infection.","authors":"Roopa Kanakatti Shankar, Priya Vaidyanathan, Gina Montealegre Sanchez, Eric Chu, Shera Weyers, Max Wolff, James E Bost, Luigi D Notarangelo, C Jason Liang, Roberta DeBiasi, Karyl Barron","doi":"10.1159/hrp/adaag041","DOIUrl":"https://doi.org/10.1159/hrp/adaag041","url":null,"abstract":"<p><p>Introduction Thyroid dysfunction has been reported in adults and children following COVID-19. We evaluated thyroid function in children following SARS-CoV-2 infection compared to uninfected controls over at least one year of follow up. Methods Thyroid function tests (TSH, Free T4) were analyzed in pediatric participants enrolled in the Pediatric SARS CoV-2 Long Term Outcome Study (PECOS), a diverse, prospective, longitudinal, multicenter cohort study. Assessments were conducted at baseline, and at follow-up visits for both infected and uninfected cohorts. Results Among 505 participants with non-missing data at baseline and 12-months, no significant differences were noted in proportion of TSH or Free T4 abnormalities among the infected vs. uninfected participants. Among infected participants 5% (25/464) developed subclinical hypothyroidism (high TSH and normal free T4) following recovery from SARS-CoV-2 infection, compared with 4.9% (2/41), a similar proportion in the uninfected group (p=1). Within the infected subgroup during 36-month follow up, three were treated with levothyroxine for persistent TSH elevation or goiter and 2/3 had positive thyroid antibodies consistent with autoimmune thyroid disease. Neither the number of SARS-CoV-2 reinfections nor number of COVID-19 vaccination status predicted the occurrence of TSH abnormalities. Conclusion Children infected with COVID-19 did not have increased thyroid dysfunction compared to uninfected controls during 12 months of follow up. A small proportion (5%) developed mild subclinical hypothyroidism that was transient in both groups, and only 3 infected participants (with TSH>10mcIU/mL or thyromegaly) needed levothyroxine replacement after 36-month follow up in this subgroup. Risk of thyroid autoimmunity compared to the uninfected population needs further study.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1"},"PeriodicalIF":3.8,"publicationDate":"2026-10-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149165278","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Long-Acting PEG-rhGH in Short Children Born SGA in China: 4-Year Results from a Randomized Phase 2 Study. 长效PEG-rhGH在中国出生SGA的矮个子儿童中的作用:一项为期4年的随机2期研究结果
IF 3.8 3区 医学
Hormone Research in Paediatrics Pub Date : 2026-10-07 DOI: 10.1159/hrp/adaag021
Ling Hou, Xiaoping Luo, Xiaobo Chen, Hongwei Du, Yu Yang, Fei-Hong Luo, Yanling Chen, Dingaiyao Ma, Wei Xiang, Xiaoyan Zhu
{"title":"Long-Acting PEG-rhGH in Short Children Born SGA in China: 4-Year Results from a Randomized Phase 2 Study.","authors":"Ling Hou, Xiaoping Luo, Xiaobo Chen, Hongwei Du, Yu Yang, Fei-Hong Luo, Yanling Chen, Dingaiyao Ma, Wei Xiang, Xiaoyan Zhu","doi":"10.1159/hrp/adaag021","DOIUrl":"https://doi.org/10.1159/hrp/adaag021","url":null,"abstract":"<p><p>Introduction Children born small for gestational age (SGA) who failed to achieve catch-up growth are at risk of persistent short stature and associated metabolic complications. Daily recombinant human growth hormone (rhGH) therapy improves growth but is limited by adherence challenges. This study evaluated the long-term efficacy and safety of once-weekly PEGylated recombinant human growth hormone (PEG-rhGH; Jintrolong) in short children born SGA. Methods This multicenter, randomized, open-label, dose-response phase 2 study, comprised a 52-week main phase and an ongoing extension (NCT02375620), across 9 and 7 sites in China, respectively. Ninety-six GH treatment-naïve, non-GH-deficient, prepubertal children born SGA (age 3 to <8 years) were randomized (1:1) to PEG-rhGH 0.1 or 0.2 mg/kg/week for 52 weeks. After 52 weeks, sixty-six children proceeded to the extension phase continuing PEG-rhGH treatment (initial dose: 0.2 mg/kg/week, maximum: 0.4 mg/kg/week) until near-adult height (NAH). Results After 208 weeks, the mean (SD) ΔHT-SDS was 1.746 (0.488) and 1.660 (0.710) in the original 0.2 and 0.1 mg/kg/week groups respectively. Overall, 90.9% (60/66) achieved height > -2 SDS and 53.0% (35/66) reached target height SDS. The mean annualized height velocity remained within the normal range. Long-term PEG-rhGH treatment was well tolerated, with most treatment-emergent adverse events (TEAEs) being mild and consistent with known GH-related effects. Conclusion Once-weekly PEG-rhGH provides sustained improvement in height and growth velocity over four years in short children born SGA. It's favorable safety and adherence profile observed supports long-acting GH as an alternative to daily GH therapy for managing growth failure in SGA children.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1"},"PeriodicalIF":3.8,"publicationDate":"2026-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149147709","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Expert Recommendations on Insulin Injection Technique and Education for the Pediatric and Young Adult Population with Diabetes: FITTER Forward Youth. 专家建议胰岛素注射技术和教育的儿科和青年糖尿病人群:FITTER向前青年。
IF 3.8 3区 医学
Hormone Research in Paediatrics Pub Date : 2026-10-07 DOI: 10.1159/hrp/adaag036
Jannet Svensson, Persis V Commissariat, Julia E Blanchette, Daphne Gardner, Margaret Pellizzari, Sanjay Kalra, Monica Andrade Lima Gabbay, David Maahs
{"title":"Expert Recommendations on Insulin Injection Technique and Education for the Pediatric and Young Adult Population with Diabetes: FITTER Forward Youth.","authors":"Jannet Svensson, Persis V Commissariat, Julia E Blanchette, Daphne Gardner, Margaret Pellizzari, Sanjay Kalra, Monica Andrade Lima Gabbay, David Maahs","doi":"10.1159/hrp/adaag036","DOIUrl":"https://doi.org/10.1159/hrp/adaag036","url":null,"abstract":"<p><p>Rates of type 1 diabetes (T1D) and type 2 diabetes (T2D) in the pediatric population have risen over the past two decades. Insulin therapy remains critical for diabetes management, and proper injection technique has been shown to improve injection experience, glycemic management, and health outcomes. Youth with diabetes (YWD), ranging from infancy to young adulthood, require unique considerations for injection technique and education best practices due to their distinct physiological, developmental, emotional, psychological, and psychosocial needs relative to adults. Considering these needs, comprehensive recommendations addressing both physiological and behavioral health aspects of YWD are warranted. Nine pediatric diabetes specialists from five countries collaborated virtually to develop pediatric and young adult recommendations for proper injection technique updated from the adult-focused Forum for Injection Technique and Therapy Expert Recommendations (FITTER) Forward guidelines published in 2025. The resulting 'FITTER Forward Youth' recommendations address insulin initiation, injection technique, storage, injection method, and lipodystrophy. Psychosocial concerns for YWD and their caregivers, including diabetes distress, depressive symptoms, and anxiety, are also discussed. Additionally, technical and psychosocial education around insulin administration is key for YWD, their primary caregivers, and community-based secondary caregivers through daycare or school. Due to variable resources across geographical regions and socio-economic groups, FITTER Forward Youth also encompasses proper injection technique education for manual injection devices, which are typically more accessible than advanced diabetes technologies, such as insulin pumps and automated insulin delivery systems.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1"},"PeriodicalIF":3.8,"publicationDate":"2026-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149127311","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Marked hypokalemia at presentation in an adolescent with ectopic ACTH syndrome secondary to a bronchial carcinoid tumor: a case report. 显着低钾血症在呈现与异位ACTH综合征继发支气管类癌肿瘤的青少年:1例报告。
IF 3.8 3区 医学
Hormone Research in Paediatrics Pub Date : 2026-10-05 DOI: 10.1159/hrp/adaag035
Hasan Yanik, Asli Derya Kardelen, Dogu Vuralli Bakkaloglu, Zeynep Gozde Ozkan, Salih Duman, Berker Ozkan, Melek Yildiz, Sukran Poyrazoglu, Firdevs Bas
{"title":"Marked hypokalemia at presentation in an adolescent with ectopic ACTH syndrome secondary to a bronchial carcinoid tumor: a case report.","authors":"Hasan Yanik, Asli Derya Kardelen, Dogu Vuralli Bakkaloglu, Zeynep Gozde Ozkan, Salih Duman, Berker Ozkan, Melek Yildiz, Sukran Poyrazoglu, Firdevs Bas","doi":"10.1159/hrp/adaag035","DOIUrl":"https://doi.org/10.1159/hrp/adaag035","url":null,"abstract":"<p><strong>Introduction: </strong>Ectopic ACTH syndrome (EAS) is a rare cause of Cushing's syndrome in children and adolescents, accounting for less than 1% of pediatric cases. Compared with Cushing's disease, EAS follows a more rapid clinical course with more pronounced metabolic disturbances, among which hypokalemia is one of the most distinctive features.</p><p><strong>Case presentation: </strong>A 14.7-year-old male presented with a three-month history of rapid weight gain, violaceous striae, hypertension, and proximal muscle weakness. Marked hypokalemia (2.8 mmol/L) prompted endocrine work-up, which revealed ACTH-dependent hypercortisolism with loss of diurnal cortisol rhythm, elevated midnight salivary cortisol, and non-suppression on low- and high-dose dexamethasone suppression tests. Pituitary MRI was unremarkable, and the marked hypokalemia raised suspicion of an ectopic source. Thoracic CT identified a nodular lesion in the right middle lobe, with corresponding uptake on ⁶⁸Ga-DOTATATE PET/CT. Right middle lobectomy was performed, and histopathology confirmed a typical bronchial carcinoid tumor. Postoperatively, hypercortisolism resolved, electrolyte balance normalized, and Cushingoid features regressed.</p><p><strong>Conclusion: </strong>Marked hypokalemia at presentation may serve as an early biochemical clue to ectopic ACTH secretion in pediatric ACTH-dependent hypercortisolism, and should prompt timely evaluation for extrapituitary sources, including bronchial carcinoid tumors.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1"},"PeriodicalIF":3.8,"publicationDate":"2026-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149108697","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Clinical Features and Short-Term Growth Hormone Outcomes in Maternal UPD of Chromosome 20: Five Chinese Patients and a Literature Review. 5例中国20号染色体UPD患者的临床特征和短期生长激素预后及文献综述
IF 3.8 3区 医学
Hormone Research in Paediatrics Pub Date : 2026-10-05 DOI: 10.1159/hrp/adaag033
Hui Sun, Xiuli Chen, Min Chen, Zhengwei Cai, Yuan Li, Fengyun Wang, Rongrong Xie, Ting Chen, Linqi Chen, Xiaoyan Wang, Bingyu Yang, Haiyan- Wei, Haiying Wu
{"title":"Clinical Features and Short-Term Growth Hormone Outcomes in Maternal UPD of Chromosome 20: Five Chinese Patients and a Literature Review.","authors":"Hui Sun, Xiuli Chen, Min Chen, Zhengwei Cai, Yuan Li, Fengyun Wang, Rongrong Xie, Ting Chen, Linqi Chen, Xiaoyan Wang, Bingyu Yang, Haiyan- Wei, Haiying Wu","doi":"10.1159/hrp/adaag033","DOIUrl":"https://doi.org/10.1159/hrp/adaag033","url":null,"abstract":"<p><strong>Background: </strong>Maternally derived uniparental disomy of chromosome 20 [UPD(20)mat], also known as Mulchandani-Bhoj-Conlin syndrome (MBCS), is a rare imprinting disorder with fewer than 30 cases documented to date. It is characterized by prenatal and postnatal growth failure and feeding difficulties. Herein, we aimed to summarize the clinical and growth characteristics of UPD(20)mat and describe short-term growth outcomes during recombinant human growth hormone (rhGH) exposure in affected individuals.</p><p><strong>Methods: </strong>We retrospectively analyzed five Chinese children with UPD(20)mat genetically evaluated by whole-exome sequencing (WES), methylation-specific multiplex ligation-dependent probe amplification, or short tandem repeat analysis. Clinical manifestations and growth data were collected. Four patients received rhGH therapy and were evaluated for changes in height standard deviation scores (Ht-SDS). In addition, we conducted a structured narrative review of 23 previously published cases identified in PubMed, CNKI, and WanFang through July 19, 2026.</p><p><strong>Results: </strong>The cohort included three female and two male children, with a median age at diagnosis of 3.4 years. Predominant features included advanced maternal age (3/4), postnatal feeding difficulties with low body mass index (BMI), and low absolute serum insulin-like growth factor-1 concentrations in the available records. Facial dysmorphism was mild and predominantly characterized by a prominent forehead and relative macrocephaly. Neurodevelopmental delay was noted in 4/5 patients. After rhGH treatment (duration: 10-15 months), the four treated patients showed substantial short-term catch-up growth, achieving a mean annualized height velocity of 10.7 cm/year and a mean increase in Ht-SDS of +1.18 (range: +0.7 to +2.0). The narrative review identified postnatal growth failure (93%) and feeding difficulties (100%) as cardinal features.</p><p><strong>Conclusion: </strong>To our knowledge, this study reports the largest case series of Chinese patients with UPD(20)mat to date, highlighting that neurodevelopmental delay and hypotonia are frequent features of this condition. rhGH exposure was associated with short-term increases in linear growth, but the findings are exploratory and do not establish efficacy. Compared with SRS, facial dysmorphism was mild and non-specific, underscoring the importance of early genetic testing in children with unexplained early-onset growth failure.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1"},"PeriodicalIF":3.8,"publicationDate":"2026-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149108675","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
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