Hormone Research in Paediatrics最新文献

{"title":"Maternal and parental anxiety levels before and after the child's seroconversion to islet autoimmunity.","authors":"Jessica Melin, Marlena Maziarz, Ezio Bonifacio, Kristina Casteels, Janne Houben, Olga Kordonouri, Karin Lange, Markus Lundgren, Thekla von dem Berge, Andreas Weiß, Christiane Winkler, Anette-Gabriele Ziegler, Helena Elding Larsson","doi":"10.1159/hrp/adaag037","DOIUrl":"https://doi.org/10.1159/hrp/adaag037","url":null,"abstract":"<p><strong>Introduction: </strong>To investigate parental type 1 diabetes-related anxiety in response to genetic screening at birth and islet autoantibody test results in at-risk children participating in the prevention study Primary Oral Insulin Trial (POInT).</p><p><strong>Methods: </strong>Children were screened at birth for genetic risk for type 1 diabetes and enrolled between 4-7 months of age in the POInT study. Parental anxiety regarding their child's risk of type 1 diabetes was measured by the State Anxiety Inventory (SAI) at 8-11, 18, and 36 months of age. Blood samples were analyzed for islet autoantibodies at each visit and results and information on risk of type 1 diabetes was communicated to the parents. Linear regression was used to investigate factors associated with anxiety.</p><p><strong>Results: </strong>Type 1 diabetes related anxiety was considered high among 58.5% of the mothers and 41.9% for the fathers when the child was between 8-11 months old, regardless of autoantibody status. Mean anxiety scores decreased over time among parents of children with negative autoantibody status. Receiving information about their child's positive islet autoantibody status increased parental anxiety and their anxiety scores remained high over time. Anxiety was also found to be associated with country of residence, having a first degree relative with type 1 diabetes, and parental study satisfaction for both mothers and fathers at all time-points. First degree relatives were more anxious than those from the general population and parents more satisfied with participation in the study were less anxious. Parents from Poland and Belgium were more anxious than parents from Germany and Sweden.</p><p><strong>Conclusion: </strong>Type 1 diabetes related anxiety is common among parents participating in genetic screening at birth and receiving information on high genetic risk after screening at birth, declining over time. Information on islet autoantibody positivity increases type 1 diabetes related anxiety. Having a first degree relative and being a mother increase the risk of anxiety, while fathers and parents satisfied with participation are less anxious. These findings emphasize the importance of close follow-up and individualized support of families with a child at high genetic risk for type 1 diabetes.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1"},"PeriodicalIF":3.8,"publicationDate":"2026-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149108711","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":"A Century of Growth Hormone from Pierre Marie (1886) to Creutzfeldt-Jakob Disease (1985).","authors":"Alan David Rogol","doi":"10.1159/hrp/adaag029","DOIUrl":"https://doi.org/10.1159/hrp/adaag029","url":null,"abstract":"<p><strong>Background: </strong>The century from1886 to 1985 was auspicious for those with an interest in growth. A clinically recognized overgrowth syndrome was named acromegaly. It explained some earlier described patients and even distant historical figures. Quickly this clinical syndrome was tied to a pituitary tumor and therapy from a group of innovative neurosurgeons. Contemporaneously, failure of the pituitary was recognized and noted to be a cause of severe growth failure and infantilism. Experimentally, new techniques were developed to hypophysectomize animals from tadpoles to rats as well as to learn to extract, purify and replace the missing pituitary hormones with increasingly pure and potent extracts from bovine pituitaries.</p><p><strong>Summary: </strong>These developments led to the concept of species specificity for growth hormone (GH), that is, only primate GH was biologically effective in primates, as well as the active core hypothesis which postulated that all species had GH molecules with active centers for their pleotropic effects and that unmasking them might make portions of the animal GH molecules active in man. In the end that has not proven correct, but became moot given the explosion of the molecular biology era with its virtually unlimited supply of recombinant hGH.</p><p><strong>Key messages: </strong>Human (primate) GH is species specific and to date the active core hypothesis which might have provided biologically effective peptides, derived from animal or human GHs, and likely to be synthesized with the techniques available at that time (mid-1960s) were never required given that rhGH was approved for clinical use in those with hypopituitarism.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1"},"PeriodicalIF":3.8,"publicationDate":"2026-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149024685","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":"The transition of youth with diabetes from paediatric to adult diabetes care services: a consensus report of the joint working group of the International Society for Pediatric and Adolescent Diabetes (ISPAD), the European Association for the Study of Diabetes (EASD) and the American Diabetes Association (ADA).","authors":"Carine de Beaufort, Steven James, Jill Weissberg-Benchell, Apoorva Gomber, Laura Cudizio, Nisa M Maruthur, Sarah Lyons, Frank Snoek, Sze May Ng, Aleksandra Araszkiewicz, Eva Hagström Toft","doi":"10.1159/hrp/adaag005","DOIUrl":"10.1159/hrp/adaag005","url":null,"abstract":"<p><p>Young adulthood is a period of significant and unique physiological, psychological, sexual and social upheaval. Related challenges can have an impact on effective diabetes self-management, with high rates of unplanned healthcare use recorded for many, and consequent increases in the risks of premature morbidity and mortality. Healthcare professionals need guidance in delivering transition support for adolescents and young adults with diabetes. This would help to facilitate the formulation and implementation of local policies and procedures, enabling guidelines to be translated into practice and improving transition of care readiness. This led ISPAD, EASD and ADA to convene a working group to produce a consensus report on the transition from paediatric to adult diabetes healthcare services. The ACCORD and AGREE II recommendations for the development of consensus reports and clinical guidelines, respectively, were followed. Existing diabetes-specific recommendations on the transition of care, published statements, a prior position paper, general recommendations and online toolkits were initially identified and reviewed. Current evidence was then systematically reviewed, supplemented with primary data on the perceptions and experiences of healthcare professionals and of people with diabetes and their caregivers from global surveys. Evidence with a grading of A or B was automatically included in the consensus statements; evidence with a C or E grading was subjected to a Delphi survey for validation. Consensus was obtained for 31 statements on the full transition of care continuum and the three unique stages of pre-transfer, transfer and post-transfer. This consensus report should be viewed as a guide and adjusted to local settings.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1"},"PeriodicalIF":3.8,"publicationDate":"2026-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13688357/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149038340","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Homozygous variants in ZSWIM6 cause severe syndromic short stature and developmental delay.","authors":"Shenali Anne Amaratunga, Martin Bezdicka, Tara Hussein Tayeb, Ondrej Soucek, Jan Lebl","doi":"10.1159/hrp/adaag023","DOIUrl":"https://doi.org/10.1159/hrp/adaag023","url":null,"abstract":"<p><p>Introduction We investigated two siblings from a consanguineous Kurdish family presenting with a specific facial phenotype (prominent forehead, supraorbital ridges, broad nose, depressed nasal bridge), severe short stature with biochemical features of growth hormone (GH) deficiency, microcephaly, and developmental delay. Whole-exome sequencing identified a homozygous variant (c.3119G>A, p.Arg1040His) in gene ZSWIM6, a putative transcription factor. Previously, only de novo heterozygous ZSWIM6 variants were known, causing either acromelic frontonasal dysostosis (AFND) or severe intellectual disability without craniofacial or skeletal anomalies. We aimed to characterize the functional impact of these three distinct variants to understand the resulting genotype-phenotype correlations. Methods The three ZSWIM6 variants were prepared in vitro by site-directed mutagenesis. Transcriptional activity was assessed in HEK293 cells using dual-luciferase reporter assays for HECW2 and ZIC2 promoters, previously hypothesized to possess functional links to ZSWIM6. In addition, in silico 3D structural modelling was performed using AlphaFold to predict the impact of each mutation on protein conformation and surface charge. Results The siblings shared partial overlap with prior ZSWIM6-associated phenotypes but also exhibited a distinct clinical presentation. Functional assays confirmed ZSWIM6 is a transcriptional regulator of the HECW2 and ZIC2 promoters. The three variants showed different effects on transcriptional regulation: the p.Arg1040His variant reduced ZIC2 activation (loss-of-function), p.Arg1163Trp enhanced ZIC2 activation (gain-of-function), and p.Arg913Ter specifically increased HECW2 activation (derepression). The 3D structural modelling predicted that p.Arg1040His and p.Arg1163Trp alter local surface charge without disrupting the overall fold, while p.Arg913Ter truncates ZSWIM6, potentially affecting the DNA binding interactions. Conclusion We report the first-ever homozygous ZSWIM6 variant, causing a novel phenotype of severe syndromic short stature with biochemical features consistent with GH deficiency and developmental delay. Our findings demonstrate that ZSWIM6 is a key transcriptional regulator and that allele-specific disturbances drive the marked clinical heterogeneity of ZSWIM6-related disorders.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1"},"PeriodicalIF":3.8,"publicationDate":"2026-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148955799","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":"Scheduled Remote Review of Continuous Glucose Monitoring Data with Targeted Intervention versus Standard Care in Children with Type 1 Diabetes: A Parallel-Groups Study.","authors":"Frances Ellen Gehrmann, Lauren Haddow, Peter William James Delaney, Grant James Smith, Craig E Taplin, Timothy W Jones, Elizabeth A Davis","doi":"10.1159/hrp/adaag028","DOIUrl":"10.1159/hrp/adaag028","url":null,"abstract":"<p><strong>Introduction: </strong>This study evaluated the impact of scheduled review of continuous glucose monitoring (CGM) data with targeted remote intervention on glycaemic and person-reported outcomes in children with type 1 diabetes (T1D).</p><p><strong>Methods: </strong>Children aged 5-14 years with T1D using CGM were recruited from two metropolitan clinics at Perth Children's Hospital in Western Australia; one clinic group was assigned to intervention and the other to control. The intervention group underwent CGM review by a diabetes educator every 14 days. Participants with >10% decrease in time in range (TIR: 3.9-10.0 mmol/L) from the previous review period, or who were not meeting consensus CGM targets, were prioritised and offered personalised remote advice via phone or email; the number receiving contact was constrained based on allocated educator time in each 14-day period. Those improving or meeting targets received positive feedback by SMS. Change in TIR from baseline to 6 months was compared between groups using difference-in-difference analysis. Person-reported outcomes were assessed using Type 1 Diabetes and Life (T1DAL) and Diabetes Treatment Satisfaction (DTSQ) questionnaires.</p><p><strong>Results: </strong>A total of 113 children were recruited, 60 in the intervention group (53% male, age 10.2 [2.7] years, baseline TIR 66.9% [13.4], HbA1c 7.2% [1.3]) and 53 in the control group (51% male, age 9.6 [2.6] years, baseline TIR 69.4% [13.4], HbA1c 6.9% [0.8]). Most participants used automated insulin delivery systems; 64% in the control and 72% in the intervention. Across 14-day periods, mean (95% CI) 71% (67, 75) of participants in the intervention group were identified for targeted support; 39% (30, 49) received remote advice. Positive feedback was sent to 38% (32, 43) in each 14-day period. Compared with the control group, the intervention group showed a non-significant 3.1 percentage point increase in TIR (β = 3.1, p = 0.11). Over 6-months, mean TIR decreased in the control group (69.4%-66.6%) and was unchanged in the intervention group (66.9%-67.0%). No significant between-group differences were observed in T1DAL or DTSQ scores, limited by low end-of-intervention questionnaire response rates.</p><p><strong>Conclusion: </strong>Regular CGM review identified many participants not meeting CGM targets, and over half received targeted intervention. However, the intervention did not significantly improve TIR or person-reported outcomes. While it did not bring participants into target range in this well-controlled cohort, the model may have greater effect in children with lower baseline TIR. Future trials should evaluate its impact in higher-risk youth.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1"},"PeriodicalIF":3.8,"publicationDate":"2026-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13688371/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148955890","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Demand Breastfeeding in Infants using Diazoxide to Manage Congenital Hyperinsulinism.","authors":"Sarah Worthington, Bethany Allchin, Sameera Hannah Auckburally, James Blackburn, Chris Worth, Maria Salomon-Estebanez, Indraneel Banerjee","doi":"10.1159/hrp/adaag024","DOIUrl":"10.1159/hrp/adaag024","url":null,"abstract":"<p><strong>Introduction: </strong>Congenital hyperinsulinism (CHI) is a rare condition which causes severe and profound hypoglycaemia. Breastfeeding is often stopped at diagnosis of CHI to reduce the likelihood of fluid overload during treatment with diazoxide, but without supportive evidence. Breastfeeding confers numerous advantages to all newborn babies and their mothers and may be safe and effective in babies with CHI. We aimed to evaluate whether demand breastfeeding in babies and infants with CHI receiving diazoxide therapy maintains safe glycaemic stability without risk of fluid overload.</p><p><strong>Methods: </strong>A retrospective observational review was undertaken to test the safety, efficacy, and acceptability of breastfeeding alongside diazoxide treatment in 17 infants with biochemically confirmed CHI. Data were collected on feeding method, glycaemic outcomes, adverse effects, signs/symptoms of fluid overload and genetic aetiology of CHI.</p><p><strong>Results: </strong>The cohort included 17 infants (13 males and 4 females). Two patients had genetic forms of CHI due to ABCC8 and HNF4A variants, while the remaining infants were diagnosed with transient CHI. All infants were demand breastfed; four infants transitioned from restricted bottle-feeding to successful demand breastfeeding during the treatment course. Duration of diazoxide therapy ranged from 5 to 13 weeks in patients with transient CHI. The 2 patients with genetic CHI required prolonged therapy, with treatment durations of 9-18 months at the time of the study. Glycaemic stability was maintained throughout the treatment period without any increase in hypoglycaemic episodes during transfer to breastfeeding or reductions in diazoxide. There was no clinical evidence of fluid overload across the patient cohort. No diazoxide-related adverse effects were observed, and therapy did not interfere with breastfeeding progression.</p><p><strong>Conclusion: </strong>Study findings support the feasibility and safety of demand breastfeeding in infants receiving diazoxide for CHI. This supports metabolic stability and parental feeding goals. These findings suggest that breastfeeding should not be routinely discouraged in this population and can be safely pursued with appropriate monitoring.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1"},"PeriodicalIF":3.8,"publicationDate":"2026-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148955856","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":"Refining the Hypochondroplasia Phenotypic Continuum: Genetic, Endocrine, and Radiological Findings in 23 Patients.","authors":"Abdulkerim Kolkiran, Melike Ataseven Kulalı, Tuğba Daşar, Abdullah Sezer, Melikşah Keskin, Şenay Savaş Erdeve, Erdal Kurnaz, Elifcan Taşdelen, Mustafa Tarık Alay, Berna Uçan, Mehmet Can Pençe, Muhammed Erkan Emrahoğlu, Ahmet Kablan, Firdevs Dinçsoy Bir, Hanife Saat, Ayşe Derya Buluş, Nihan Solmaz","doi":"10.1159/hrp/adaag025","DOIUrl":"10.1159/hrp/adaag025","url":null,"abstract":"<p><strong>Introduction: </strong>Hypochondroplasia (HCH) is a mild and often under-recognized skeletal dysplasia caused by heterozygous variants in FGFR3. It is characterized by disproportionate short stature and subtle radiographic findings, which may delay diagnosis. This study aimed to evaluate the clinical, radiological, and molecular characteristics of patients with HCH and related FGFR3 variant carriers.</p><p><strong>Methods: </strong>In this retrospective, single-center study, we reviewed 23 individuals from 14 families with heterozygous FGFR3 variants confirmed by clinical exome sequencing and/or Sanger sequencing. Clinical, anthropometric, radiological, endocrine, and molecular data were analyzed. Variants were classified according to ACMG/AMP criteria and interpreted with respect to their established relevance to the skeletal phenotype.</p><p><strong>Results: </strong>The cohort comprised 13 females and 10 males, with ages ranging from 1.95 to 50.4 years. Eighteen patients carried pathogenic or likely pathogenic variants with established skeletal relevance, whereas five carried variants of uncertain significance or variants with uncertain skeletal relevance. Disproportionate short stature was present in 59.1% and macrocephaly or relative macrocephaly in 40.9% of patients with available data. The most frequent radiological findings were increased lumbar lordosis and absent caudal widening of the lumbar interpedicular distance, followed by midfacial retrusion and scoliosis. Eight distinct FGFR3 variants were identified, most commonly p.(Asn540Ser) and p.(Asn540Lys). Patients with p.(Asn540Ser) showed a nonsignificant trend toward a milder phenotype than those with p.(Asn540Lys). Marked phenotypic variability was observed, including variable skeletal severity and craniosynostosis in 1 patient with p.(Asn540Lys). Although acanthosis nigricans has been associated with both p.(Lys650Thr) and p.(Glu768*) variants, its occurrence with p.(Glu768*) has not previously been described in the context of HCH; therefore, it was regarded as a variant-associated finding rather than a defining feature of HCH.</p><p><strong>Conclusion: </strong>This study expands the clinical and molecular spectrum of FGFR3-related HCH and underscores its genetic and phenotypic heterogeneity. Molecular characterization, together with careful distinction between variants with established skeletal relevance and those of uncertain significance, is essential for accurate diagnosis, clinical follow-up, and refinement of genotype-phenotype correlations.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1"},"PeriodicalIF":3.8,"publicationDate":"2026-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148944660","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":"Diagnostic Value of Thyroid Ultrasound in Disseminated Fungal Infection: A Case Report.","authors":"Camila Pipino, Pablo Zoroquiain, Paulina Esparza, Javiera Postigo, Francisco Cruz, Francisca Grob","doi":"10.1159/hrp/adaag022","DOIUrl":"10.1159/hrp/adaag022","url":null,"abstract":"<p><strong>Introduction: </strong>Intrathyroidal nodules in pediatrics are less frequent than in adults. Infectious etiologies, particularly fungal, are rare but relevant in immunocompromised patients and can mimic neoplastic lesions.</p><p><strong>Case presentation: </strong>We report a 14-year-old female with a history of osteosarcoma; 6 months after oncologic treatment, she was diagnosed with acute lymphoblastic leukemia. A cervical imaging study performed for central venous catheter placement revealed two left thyroid nodules interpreted as suspicious for malignancy. Fine-needle aspiration (FNA) was performed. Initial pathology was negative for neoplastic cells and demonstrated hyaline septate hyphae; subsequent microbiological evaluation identified Candida albicans. The patient received targeted antifungal therapy.</p><p><strong>Conclusion: </strong>This case illustrates that fungal thyroid infection can be present as a nodule suspicious for malignancy in pediatric oncology patients, even in the absence of overt neutropenia. FNA allowed identification of hyphae and guided microbiological workup, underscoring the usefulness of combining cytology, culture, and molecular techniques for etiologic diagnosis and appropriate management. In oncologic or immunocompromised patients presenting with a newly appearing thyroid nodule, especially when prior imaging was normal, infectious etiologies - including fungi - should be included in the differential diagnosis.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1"},"PeriodicalIF":3.8,"publicationDate":"2026-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148944684","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":"Patterns, Perceptions, and Gaps in Estrogen Replacement Therapies among Adolescents and Adults with Turner Syndrome: Insights from the UTHealth Houston/Turner Syndrome Society of the United States Research Registry.","authors":"Ferial Shihadeh, Siddharth K Prakash, Michelle Rivera-Davila, Kaleigh Riggs-Harpur","doi":"10.1159/hrp/adaag027","DOIUrl":"10.1159/hrp/adaag027","url":null,"abstract":"<p><strong>Introduction: </strong>Most individuals with Turner syndrome (TS) develop hypergonadotropic hypogonadism and need exogenous estrogen replacement for induction of puberty and continue to require estrogen replacement until approximately the age of natural menopause. Despite established guidelines, gaps remain in long-term adherence and patient understanding of estrogen therapy. This study explored estrogen use patterns, perceived benefits, and challenges among individuals with TS.</p><p><strong>Methods: </strong>The study survey was implemented in Research Electronic Data Capture and distributed to UTHealth Houston/Turner Syndrome Society of the United States Research Registry participants between July and September 2024.</p><p><strong>Results: </strong>A total of 169 individuals with TS responded to the survey. The mean age of study participants was 39.3 years (SD 16.9 years). Most (86%) had used estrogen at some point in their lives, and 65% were still taking estrogen at the time of the survey. One-third of participants who had discontinued estrogen were younger than 50 years old. Interruption of estrogen use occurred at least once in 27% of participants over the last 10 years. One in five participants currently taking estrogen endorsed significant side effects such as breakthrough bleeding, anxiety, depression, and mood swings, as well as brain fog and difficulties with memory or learning. More than one-third of participants did not believe they needed estrogen therapy, including one in five respondents younger than 50 years. Common reasons included perceived lack of health benefit (16%), not being sexually active (19%), concerns about cancer risk (5%), and limited awareness of the benefits of estrogen therapy (16%). Self-reported mental health diagnoses were common (47%), with anxiety (80%), and depression (69%) being the most frequently reported conditions.</p><p><strong>Conclusion: </strong>Estrogen replacement remains an essential component of long-term care for individuals with Turner syndrome. This survey identified important barriers to sustained estrogen use, including side effects, misconceptions regarding the need for therapy, and limited awareness of its health benefits. These findings highlight the importance of individualized counseling, patient education, and coordinated long-term follow-up to improve adherence and optimize long-term health outcomes.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1"},"PeriodicalIF":3.8,"publicationDate":"2026-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148929791","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":"Limited Diagnostic Utility of Cortisol and Growth Hormone Levels Obtained during Hypoglycemia in Children.","authors":"Merav Gil Margolis, Michal Yackobovitch-Gavan, Moshe Phillip, Liat de Vries","doi":"10.1159/hrp/adaag003","DOIUrl":"10.1159/hrp/adaag003","url":null,"abstract":"<p><strong>Introduction: </strong>Pediatric hypoglycemia has heterogeneous, age-dependent causes. Both growth hormone (GH) deficiency and adrenal insufficiency (AI) may be present with hypoglycemia; AI can lead to fatal adrenal crisis. Our objectives were to assess cortisol and GH responses to spontaneous hypoglycemia and determine the prevalence of AI (cortisol <500 nmol/L).</p><p><strong>Methods: </strong>Retrospective cohort was comprised of 133 children (1992-2022) with laboratory glucose ≤50 mg% during hypoglycemia.</p><p><strong>Results: </strong>In critical samples (CSs), cortisol <500 nmol/L was observed in 51.1% (n = 68) and <276 nmol/L in 23.3% (n = 31). AI was ultimately diagnosed in 5 patients (3.7%): four with multiple pituitary hormone deficiency and one with primary AI. Children with CS cortisol <500 nmol/L had higher median CS GH than the rest of the cohort (7.6 vs. 3.7 ng/mL, p < 0.001) and more frequent detectable insulin (53.3% vs. 35.6%, p = 0.052), with no other clinical or biochemical differences. CS cortisol correlated with fasting test nadir cortisol (r = 0.574, p < 0.001) and Synacthen-stimulated cortisol (r = 0.448, p = 0.004), but not with age (r = 0.026, p = 0.765) or CS glucose (r = 0.025, p = 0.802). CS cortisol was inversely associated with CS insulin (r = -0.242, p = 0.009). A CS GH <7.5 ng/mL was present in 56.9% of patients. CS GH showed inverse associations with age (r = -0.489, p < 0.001) and glucose (r = -0.332, p < 0.001), but not with height-SDS or weight-SDS (r = -0.046, p = 0.694; r = -0.021, p = 0.819).</p><p><strong>Conclusions: </strong>Blunted cortisol responses to spontaneous hypoglycemia in children are frequent, whereas AI is rare. In the absence of a reliable clinical discriminator, Synacthen testing is indicated. Suboptimal GH responses are also common, and further assessment should be guided by clinical judgment.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1"},"PeriodicalIF":3.8,"publicationDate":"2026-09-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13597075/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148905430","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}