Hormone Research in Paediatrics最新文献

{"title":"The Birth Prevalence of Congenital Hyperinsulinism: A Narrative Review of the Epidemiology of a Rare Disease.","authors":"David Lapidus, Diva D De León, Paul S Thornton, Davelyn Hood, Jeffrey Breit, Julie Raskin, Tai L S Pasquini","doi":"10.1159/000539464","DOIUrl":"10.1159/000539464","url":null,"abstract":"<p><strong>Background: </strong>Congenital hyperinsulinism (HI) is a rare pediatric disease and the most common cause of severe, persistent hypoglycemia in childhood. It is characterized by the dysregulation of insulin secretion from the pancreas and can lead to irreversible brain damage with lifelong neurodisability.</p><p><strong>Summary: </strong>The global birth prevalence of HI is currently unknown. An evidence-based estimate of HI birth prevalence is essential to improve diagnosis and patient management, to drive clinical research and the development of new treatments, and to inform public policy. In order to estimate the birth prevalence of persistent HI, a targeted literature review of studies that report HI epidemiological data was undertaken, and the strengths and limitations of each study were analyzed. Overall, eight global studies were identified that reported independently determined HI epidemiological data.</p><p><strong>Key messages: </strong>The best estimate for the birth prevalence of persistent HI in European-ancestry populations is 3.5 per 100,000 births. Local consanguinity patterns appear to have a considerable impact on the birth prevalence of persistent HI in each country, precluding the application of this figure to all global populations. More epidemiological studies with robust methodology are needed to enable a reliable approximation of the incidence and prevalence of HI in global populations.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141418630","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":"Erratum.","authors":"","doi":"10.1159/000539579","DOIUrl":"10.1159/000539579","url":null,"abstract":"","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11495235/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141319521","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":"ISPAD ANNUAL CONFERENCE HIGHLIGHTS 2023.","authors":"Sze May Ng, Vit Neuman, Lucía Feito Allonca, Helen Day, Valentina Mancioppi, Anna Korsgaard Berg, Marisa Clemente, Rebecca Hubbard, Karolina Piatek, Manoj Agrawal, Didem Gunes Kaya, Akhil Shah, Mark Robinson, Katarina Braune, Vasiliki Alexopoulou, Yasmine Elhenawy, Rebecca Ortiz La Banca Barber","doi":"10.1159/000539749","DOIUrl":"https://doi.org/10.1159/000539749","url":null,"abstract":"<p><p>The 49th Annual Conference of the International Society of Pediatric and Adolescent Diabetes (ISPAD), held from October 18 to 21, 2023, in Rotterdam, Netherlands, showcased significant advancements and diversity in paediatric and adolescent diabetes research and clinical innovations. The conference, renowned for its global impact, brought together experts to discuss cutting-edge developments in the field. Highlights from the plenary sessions included ground-breaking research on immunotherapies and diabetes technologies and offering new insights into personalised treatment approaches. Keynote speakers emphasised the importance of early diagnosis, prevention and the potential of novel biomarkers in predicting disease progression. The symposia covered a broad spectrum of topics, from advancements in continuous glucose monitoring technologies to the latest in hybrid closed loop systems which promise to revolutionise diabetes management for young patients.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-06-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141305810","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":"Timing of meal consumption on glucose profiles in Latino adolescents with obesity.","authors":"Alaina P Vidmar, Choo Phei Wee, Sarah-Jeanne Salvy, Jomanah Abduljalil Bakhsh, Michael I Goran","doi":"10.1159/000539764","DOIUrl":"https://doi.org/10.1159/000539764","url":null,"abstract":"<p><strong>Introduction: </strong>To date, there has been no study investigating how meal-timing impacts glucose and insulin resistance among Latino youth at high risk of type 2 diabetes. A proof-of-concept study was conducted to assess metabolic response to a test-meal consumed in the morning, afternoon, and evening among 15 Latino adolescents with obesity using a within-participant design.</p><p><strong>Methods: </strong>Youth, 13 to 19 years of age, with obesity, consumed the same test-meal after a 16 hour fast at three different times on separate days. Immediately after consumption of the test meal, a mixed meal tolerance test (MMTT) was performed. The co-primary outcomes were the area under the curve (AUC) for glucose, insulin, and c-peptide, and insulinogenic index (IGI).</p><p><strong>Results: </strong>Twenty-two youth consented to participate for a 24% recruitment rate (78% female, 100% Latino, mean age 16.5±1.3 years, 70% publicly insured). There was a significantly greater rise in glucose and c-peptide levels following at 4 PM compared to 8 AM (glucose: p = 0.006; c-peptide: p &lt; 0.0001) with no significant association found between insulin levels and timing of meal consumption. Pairwise comparisons showed a greater rise in AUC glucose and c-peptide levels at 4 PM compared to 8 AM (glucose p = 0.003; c-peptide p &lt; 0.001) with no significant association found between insulin AUC and timing of meal consumption (p = 0.09). There was a greater reduction in IGI at 4 PM compared to 8 AM (p = 0.027).</p><p><strong>Conclusion: </strong>Similar to findings in adults at risk for diabetes, Latino youth with obesity show greater insulin resistance in response to a meal consumed in the afternoon and evening compared to early morning food consumption.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-06-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141305811","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":"ISPAD Annual Conference Highlights 2023.","authors":"Sze May Ng, Vit Neuman, Lucía Feito Allonca, Helen Day, Valentina Mancioppi, Anna Korsgaard Berg, Marisa Clemente, Rebecca Hubbard, Karolina Piatek, Manoj Agrawal, Didem Gunes Kaya, Akhil Shah, Mark Robinson, Katarina Braune, Vasiliki Alexopoulou, Yasmine Elhenawy, Rebecca Ortiz La Banca Barber","doi":"10.1159/000539749","DOIUrl":"https://doi.org/10.1159/000539749","url":null,"abstract":"","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-06-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142464103","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":"Sex Hormone Treatment for Female Children and Young Adults with Disorders Affecting Hypothalamic, Pituitary, and Ovarian Function.","authors":"Hannah Ochsner, Flurina Annacarina Maria Saner, Christa E Flück, Gabby Atlas, Anja Wueest, Margaret Zacharin, Christoph Saner","doi":"10.1159/000539697","DOIUrl":"10.1159/000539697","url":null,"abstract":"<p><strong>Background: </strong>Normal hypothalamic-pituitary-ovarian (HPO) endocrine function is essential for female pubertal and psychosocial development and for ongoing adult physical, sexual, and psychosocial health. Girls with hypogonadism, any endocrine disorder causing abnormal uterine bleeding (AUB) or with contraception needs may require sex hormone treatment. Challenges include evolving needs of a young girl through the course of sexual maturation, potential health risks related to the use of sex hormones for pubertal induction, hormone replacement therapy (HRT), menstrual management, and/or contraception.</p><p><strong>Summary: </strong>To ensure optimal sex hormone treatment, both a comprehensive understanding of the underlying disorder affecting HPO endocrine function and a professional communication with the patient and physicians involved are warranted. In this narrative mini-review, we discuss pubertal induction and HRT for girls with hypogonadism and the management of AUB and contraception for young women up to age 30 years. Additionally, we provide advice on management of AUB and contraception in young women with common conditions including polycystic ovary syndrome, congenital adrenal hyperplasia and others. A PubMed-literature search including articles published over the last 20 years, together with clinical experience of the authors was integrated to provide treatment recommendations.</p><p><strong>Key message: </strong>Sex hormone treatment, where needed, requires comprehensive understanding of a range of available options. When tailored to individual needs, with flexibility to accommodate changing circumstance in young women it is safe, well tolerated and provides both physical and psychosocial health.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-06-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141295960","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":"Effects and Safety of Growth Hormone Treatment in Six Children with Pycnodysostosis.","authors":"Judith S Renes, Theo C J Sas, Agnes Clement-de Boers, Nitash Zwaveling-Soonawala, Sabine E Hannema, Janiëlle A E M van der Velden, Daniëlle C M van der Kaay, Anita C S Hokken-Koelega","doi":"10.1159/000539574","DOIUrl":"10.1159/000539574","url":null,"abstract":"<p><strong>Introduction: </strong>Pycnodysostosis is an extremely rare skeletal dysplasia caused by cathepsin K deficiency. It is characterized by extreme short stature with adult height (AH) in males typically less than 150 cm and in females less than 130 cm. Our objective was to evaluate the effect and safety of growth hormone (GH) treatment in 6 patients with pycnodysostosis treated according to the Dutch national pycnodysostosis guideline.</p><p><strong>Case presentation: </strong>Six subjects (4 boys, 2 girls) presented with pycnodysostosis, treated with GH 1.4 mg/m2/day (∼0.046 mg/kg/day) for ≥1 year. Median (IQR) age at start of GH was 10.4 years (5.7; 12.2) and median height 113.5 cm (93.3; 129.3) (-4.2 SDS [-4.8; -3.6]). All children were prepubertal at start of GH. After 1 year of GH, median height gain was 7.6 cm (6.5; 8.5) (0.3 SDS [-0.3; 0.7]). Three children are still treated with GH, and the other three subjects reached AH: 1 boy reached an AH of 157.0 cm (-3.8 SDS) after 6.3 years of GH, and 2 girls reached an AH of 138.5 cm (-5.2 SDS) after 4.8 years of GH and 148.0 cm (-3.6 SDS) after 6.4 years of GH, respectively. This last girl received additional GnRH analogue treatment. In all subjects, height SDS remained stable or improved during and after GH treatment. No serious adverse advents were found. Serum IGF-I remained below the +2 SDS.</p><p><strong>Conclusion: </strong>Our data suggest that GH may prevent the decline in height which can be observed in children with pycnodysostosis. Further research is needed to confirm this. Also, the effect of other growth-promoting strategies such as treatment with an additional GnRH analogue warrants further investigation.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-06-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141261618","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":"Dietary Components in the Pathogenesis and Prevention of Type 1 Diabetes in Children.","authors":"Vit Neuman, Lukas Plachy, Stepanka Pruhova, Zdenek Sumnik","doi":"10.1159/000539575","DOIUrl":"10.1159/000539575","url":null,"abstract":"<p><strong>Background: </strong>Type 1 diabetes (T1D) is a disease closely linked to nutrition and modifications in various dietary components have been part of the effort to prevent or slow the progression of the disease even before the discovery of insulin.</p><p><strong>Summary: </strong>The scientific focus in the prevention or progression modification of T1D is mostly centered on four dietary compounds and their modifications - gluten and its omission, vitamin D supplementation, omega-3 fatty acids supplementation, and decreasing of the amount of ingested carbohydrates. The aim of this narrative review was to provide an overview of nutritional interventions studied in children either as preventive methods or as modifiers in the early stages of T1D from autoantibody positive individuals to persons with newly diagnosed T1D.</p><p><strong>Key messages: </strong>Our review shows that dietary modifications in various dietary components might be useful but none of them seems to provide universal effects in T1D prevention or progression modification. More research is therefore needed with focus on promising modes of action of individual dietary components.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-06-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141261569","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":"Genetic Findings in Short Turkish Children Born to Consanguineous Parents.","authors":"Sjoerd D Joustra, Emregul Isik, Jan M Wit, Gonul Catli, Ahmet Anik, Belma Haliloglu, Nurgun Kandemir, Elif Ozsu, Yvonne M C Hendriks, Christiaan de Bruin, Sarina G Kant, Angel Campos-Barros, Rachel C Challis, David Parry, Margaret E Harley, Andrew Jackson, Monique Losekoot, Hermine A van Duyvenvoorde","doi":"10.1159/000539696","DOIUrl":"10.1159/000539696","url":null,"abstract":"<p><strong>Introduction: </strong>The diagnostic yield of genetic analysis in the evaluation of children with short stature depends on associated clinical characteristics, but the additional effect of parental consanguinity has not been well documented.</p><p><strong>Methods: </strong>This observational case series of 42 short children from 34 consanguineous families was collected by six referral centres of paediatric endocrinology (inclusion criteria: short stature and parental consanguinity). In 18 patients (12 families, group 1), the clinical features suggested a specific genetic defect in the growth hormone (GH) insulin-like growth factor I (IGF-I) axis, and a candidate gene approach was used. In others (group 2), a hypothesis-free approach was chosen (gene panels, microarray analysis, and whole exome sequencing) and further subdivided into 11 patients with severe short stature (height &lt;-3.5 standard deviation score [SDS]) and microcephaly (head circumference &lt;-3.0 SDS) (group 2a), 10 patients with syndromic short stature (group 2b), and 3 patients with nonspecific isolated GH deficiency (group 2c).</p><p><strong>Results: </strong>In all 12 families from group 1, (likely) pathogenic variants were identified in GHR, IGFALS, GH1, and STAT5B. In 9/12 families from group 2a, variants were detected in PCNT, SMARCAL1, SRCAP, WDR4, and GHSR. In 5/9 families from group 2b, variants were found in TTC37, SCUBE3, NSD2, RABGAP1, and 17p13.3 microdeletions. In group 2c, no genetic cause was found. Homozygous, compound heterozygous, and heterozygous variants were found in 21, 1, and 4 patients, respectively.</p><p><strong>Conclusion: </strong>Genetic testing in short children from consanguineous parents has a high diagnostic yield, especially in cases of severe GH deficiency or insensitivity, microcephaly, and syndromic short stature.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-06-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7616538/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141261637","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":"Congenital Hyperinsulinism of a Large Italian Cohort: A Retrospective Study.","authors":"Francesco Tagliaferri, Roberta Iannuzzi, Gabriele Canciani, Silvia M Bernabei, Carmen Campana, Stefania Caviglia, Benedetta Greco, Francesca R Lepri, Antonio Novelli, Milena Pizzoferro, Maria C Garganese, Marco Spada, Paola Francalanci, Carlo Dionisi-Vici, Arianna Maiorana","doi":"10.1159/000538943","DOIUrl":"10.1159/000538943","url":null,"abstract":"<p><strong>Introduction: </strong>To evaluate and describe the diagnostic process, medical, nutritional, and surgical approach, and neurological outcome, we report data from a large Italian cohort of patients with congenital hyperinsulinism (CHI).</p><p><strong>Methods: </strong>We retrospectively analyzed 154 CHI patients admitted to Ospedale Pediatrico Bambino Gesù from 1985 to 2022.</p><p><strong>Results: </strong>Hypoglycemia occurred within the first year of life in 85.5% of patients, median time to diagnosis was 1 day (IQR 14 days). Ninety-two percent of patients were treated with diazoxide: 66.9% were responsive. Octreotide was administered to 28.6% of patients: 61.4% were responsive. Forty percent of patients were off-therapy, mostly from diazoxide. Thirty-four percent of patients carried mutations in ABCC8, 12.6% were syndromic, and 9.2% were transient CHI. Surgery was performed in 23/47 diazoxide-unresponsive and 2/95 diazoxide-responsive patients: 64.0% were focal at histology. Combining data from genetics, pancreatic venous sampling, 18F-DOPA PET/CT, and histology, 80.6% resulted diffuse, 16.7% focal, and 2.8% atypical CHI. Post-surgical diabetes developed in 6 patients. Neurocognitive evaluation revealed developmental delay or intellectual disability in 15.7% of 70 patients, mostly of a mild degree. Epilepsy was documented in 13.7% of 139 patients.</p><p><strong>Conclusion: </strong>Our diagnostic and therapeutic results are mainly consistent with the international indications and the CHI Global Registry data, with relatively low rates of neurological outcomes. Good outcomes were likely associated with early diagnosis and prompt management of patients because the majority of patients were diagnosed within 2 weeks. Remarkably, it is of utmost importance to spread the knowledge and refer CHI patients to multidisciplinary expert centers.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141160034","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}