Hormone Research in Paediatrics最新文献

{"title":"Type 1 diabetes in the youngest: from distinct needs to new frontiers in care.","authors":"Diletta Ingrosso, Olivier Gaetan Polle, Kevin Perge, Julie Pelicand, Gaelle Vermillac, Cecile Godot, Alix Besancon, Francesco Chiarelli, Jacques Beltrand","doi":"10.1159/hrp/adaag026","DOIUrl":"https://doi.org/10.1159/hrp/adaag026","url":null,"abstract":"<p><p>Type 1 diabetes (T1D) in very young children poses unique clinical and psychosocial challenges due to distinct physiological, developmental, and behavioural characteristics of this age group. Advances in diabetes technology, particularly hybrid closed-loop (HCL) systems, are transforming T1D management in young children by integrating continuous glucose monitoring (CGM) with automated insulin delivery (AID). Evidence from randomized controlled trials and real-world studies consistently demonstrates that HCL systems improve time in range, lower HbA1c, and reduce glycaemic variability without increasing the risk of severe hypoglycaemia or diabetic ketoacidosis. Benefits are especially evident overnight, when glycaemic control is more stable, although daytime management remains more complex, due to unpredictable behaviours typical of preschoolers and marked circadian variability in insulin needs. Accordingly, the use of HCL fail to decrease hypoglycaemia in this population. Additional strategies, such as insulin dilution, may facilitate safer delivery of small doses, reducing the risk of nocturnal hypoglycaemia and improving time in range (TIR). Beyond metabolic outcomes, HCL systems substantially improve quality of life for both children and caregivers, reducing fear of hypoglycaemia, easing parental burden, and improving sleep and emotional well-being. Overall, current evidence supports HCL as a safe and effective therapeutic option for very young children with T1D, offering significant metabolic and psychosocial benefits, without completely eliminating the risk of hypoglycaemia. These findings highlight the need for further refinement of age-specific algorithms capable of addressing the unique physiological variability of this population.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1"},"PeriodicalIF":3.8,"publicationDate":"2026-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149227725","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}

{"title":"Familial 46,XX Ovotesticular Differences in Sex Development Associated With an NR5A1 p.Arg92Trp Variant.","authors":"Manju Chandwani, Thabitha Hoole, Elizabeth Crowne, Emma Cathryn Kivuva, Mark Woodward, Julie Alderson, Dinesh Giri","doi":"10.1159/hrp/adaag043","DOIUrl":"https://doi.org/10.1159/hrp/adaag043","url":null,"abstract":"<p><strong>Introduction: </strong>NR5A1 encodes steroidogenic factor 1 (SF-1), a key regulator of adrenal and gonadal development, steroidogenesis, AMH transcription, and the balance between pro-testicular and pro-ovarian pathways. The recurrent NR5A1 c.274C>T (p.Arg92Trp) variant is associated with SRY-negative 46,XX testicular and ovotesticular differences in sex development (DSD), but intrafamilial expression remains difficult to predict. Case Presentation We report a rare multigenerational familial presentation of SRY-negative 46,XX ovotesticular DSD associated with the heterozygous NR5A1 p.Arg92Trp variant. The proband was noted antenatally to have atypical genital development. Antenatal karyotyping confirmed a 46,XX, SRY-negative result. At birth, the proband had clitoromegaly, posterior labioscrotal fusion, a perineal urethral opening, absent vaginal opening, and palpable labioscrotal gonads. Testosterone, anti mullerian hormone (AMH), and inhibin B were elevated, consistent with functioning testicular tissue, while adrenal investigations were normal. Imaging and laparoscopy showed mixed Müllerian and Wolffian structures, and gonadal histology confirmed ovarian primordial follicles. The family history was notable for DSD in the mother's sister, who had undergone childhood genital surgery and gonadectomy, with histology showing intratubular germ cell neoplasia. She was the first family member found to carry the NR5A1 p.Arg92Trp variant, prompting targeted testing in the proband and her mother, both of whom were positive. The variant was subsequently identified in the maternal grandmother and in the proband's older 46,XX, SRY-negative brother, who was raised male and had typical male external genitalia with bilateral scrotal gonads; the mother's brother tested negative. The mother had previously been treated for a unilateral ovarian germ cell tumour. These findings demonstrate marked intrafamilial variability and highlight the importance of family-history-led genetic testing, tumour-risk assessment, and long-term multidisciplinary follow-up.</p><p><strong>Conclusion: </strong>This family captures the striking phenotypic breadth of NR5A1 p.Arg92Trp within a single pedigree and illustrates the role of NR5A1 as a developmental regulator of gonadal fate and AMH-mediated ductal differentiation. It emphasises the need for cautious individualised management, tumour surveillance, long-term follow-up, genetic counselling, and psychological support.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1"},"PeriodicalIF":3.8,"publicationDate":"2026-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149227688","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}

{"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}

{"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}

{"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}

{"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}

{"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}

{"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}

{"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}

{"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}