Hormone Research in Paediatrics最新文献

{"title":"Physical Activity in Very Young Children Living with Type 1 Diabetes.","authors":"Rowen Seckold, Michelle Fuery, Stewart G Trost, Tony Huynh, Carmel E Smart, Bruce R King","doi":"10.1159/000545316","DOIUrl":"10.1159/000545316","url":null,"abstract":"<p><strong>Introduction: </strong>Physical activity has health benefits for people living with type 1 diabetes (T1D); however, there are barriers limiting their ability to meet minimum recommended levels of moderate-to-vigorous physical activity (MVPA). We aimed to measure physical activity levels and barriers to physical activity in children <7 years of age living with T1D and compare to general population data and guidelines.</p><p><strong>Methods: </strong>Children <7 years of age with T1D were recruited from two paediatric diabetes centres in Australia. Physical activity was measured for 7 days using an accelerometer. Parents completed questionnaires related to barriers to physical activity (Barriers to Physical Activity in Diabetes [BAPAD1]) and fear of hypoglycaemia (Hypoglycaemia Fear Survey-Parents of Young Children [HFS-PYC]). Continuous glucose monitor (CGM) data were collected. MVPA was compared to the general population.</p><p><strong>Results: </strong>Thirty-three children, mean age 4.5 years (SD 1.2), mean HbA1c 7.1% (SD 1.1) (55 mmol/mol [SD 13]), and mean diabetes duration 35 months (SD 21), participated. Children with and without T1D did not meet daily MVPA recommendations and mean MVPA was not significantly different between groups (42.6 min [SD 26.02] vs. 42.8 min [SD 17.05], p = 0.972). CGM time in range 3.9-10 mmol/L correlated with MVPA (Tau-b = 0.396, p = 0.19). The median (Q1, Q3) for BAPAD1 average score was 2.4 (2, 4) and median HFS behaviour and worry sub-scores were both low at 2.3 (2, 3).</p><p><strong>Conclusions: </strong>Children <7 years of age did not meet the recommended daily MVPA level independent of diabetes. Parental concern regarding diabetes-related barriers to physical activity was low.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-11"},"PeriodicalIF":2.6,"publicationDate":"2025-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143669538","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":"Parental Perception of Quality of Life and Impact of Short Stature in Children with Hypochondroplasia and Other Genetic Causes of Short Stature.","authors":"Despoina Galetaki, Anqing Zhang, Nicole Rangos, Nadia Merchant, Roopa Kanakatti Shankar, Kimberly Pitner, Niusha Shafaei, Raheem Seaforth, Andrew Dauber","doi":"10.1159/000545318","DOIUrl":"10.1159/000545318","url":null,"abstract":"<p><strong>Introduction: </strong>Short stature can lead to physical limitations and socioemotional effects limiting a child and parents' quality of life (QoL). This study investigates the impact of hypochondroplasia and other genetic causes (ACAN, NPR2 mutations, and RASopathy) of short stature on QoL.</p><p><strong>Methods: </strong>Parents of participants in an ongoing phase II clinical trial of vosoritide in children with selected genetic causes of short stature completed the Quality of Life in Short Stature Youth (QoLISSY) survey. Results from the survey domains (Total, Physical, Social, Emotional, Coping, Beliefs, Future, and Effects on parents) were compared to a reference population with idiopathic short stature (ISS) and growth hormone deficiency (GHD).</p><p><strong>Results: </strong>The cohort had lower mean total QoL scores compared to the reference population (54.0+/- 19.7 vs. 70.0+/- 22.0, p value <0.001), along with lower Physical (44.8+/- 21.2 vs. 71.8+/-23.2, p value <0.001) and Social scores (54.0+/-22.2 vs. 69.4+/-25.2, p value <0.001), and worse Effects on parents (52.3+/- 20.0 vs. 65.68 +/- 24.5, p value <0.0001). Older age and lower baseline height were associated with lower scores. Lower QoL scores were more prominent in males compared to the reference. When comparing genetic diagnoses, patients with NPR2 mutations had the lowest QoL scores.</p><p><strong>Conclusion: </strong>Patients with hypochondroplasia and other genetic causes of short stature had lower scores in multiple domains of QoL compared to ISS/GHD. Older age, male sex, and shorter stature may exacerbate effects on QoL. Additional studies to further explore these associations can clarify the unique challenges and facilitate appropriate medical and psychosocial support for children and their families.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-9"},"PeriodicalIF":2.6,"publicationDate":"2025-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143648289","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":"Impaired Dietary Decision-Making in Children and Adolescents with Congenital Adrenal Hyperplasia.","authors":"L Nate Overholtzer, Shan Luo, Seung-Lark Lim, Trevor A Pickering, Nicole R Fraga, Elaine Kim, Megan M Herting, Veeraya K Tanawattanacharoen, Mitchell E Geffner, Mimi S Kim","doi":"10.1159/000545117","DOIUrl":"10.1159/000545117","url":null,"abstract":"<p><strong>Introduction: </strong>Children and adolescents with congenital adrenal hyperplasia (CAH) are at increased risk for obesity and exhibit differences in brain regions associated with food reward and decision-making. We aimed to understand differences in dietary decision-making between youth with CAH compared to controls.</p><p><strong>Methods: </strong>A total of 37 youth with CAH (12.2 ± 3.1 y, 59.5% female) and 100 controls (11.7 ± 2.4 y, 57% female) rated 30 low- and 30 high-calorie foods for health, taste, and liking. Participants then chose between 100 food pair trials using a mouse-tracking paradigm; 75 were discordant for health and taste ratings. Self-control success was measured as the percentage of trials in which the healthier food was chosen instead of the tastier food. Area under the curve (AUC) and maximum deviation (MD) are used as real-time indices of decision-making.</p><p><strong>Results: </strong>Patients with CAH exhibited higher AUCs (CAH: 9.48 ± 8.08, control: 6.40 ± 7.33; p < 0.05) and MDs (CAH: 0.20 ± 0.13, control: 0.15 ± 0.12; p < 0.05) in self-control trials. However, patients with CAH and controls did not differ in their self-control success (CAH: 28.47 ± 24.27%, control: 35.16 ± 25.01%; p = 0.16). In youth with CAH, testosterone was correlated with AUC (R = 0.46, p < 0.01) and MD (R = 0.38, p = 0.02) during successful self-control trials.</p><p><strong>Conclusions: </strong>Children and adolescents with CAH exhibit more cognitive conflict when choosing between healthy and tasty foods. Two indicators of disease severity were associated with cognitive conflict during food choice in patients with CAH. Our findings suggest impaired dietary decision-making in CAH could contribute to obesity risk.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-10"},"PeriodicalIF":2.6,"publicationDate":"2025-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143604633","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":"Fertility in Non-Classic Lipoid CAH: A Case Report and Review of the Literature.","authors":"Emre Murat Altinkilic, Camilla Mains Balle, Clarissa Daniela Voegel, Therina du Toit, Amit V Pandey, Claus H Gravholt, Christa E Flück","doi":"10.1159/000545063","DOIUrl":"10.1159/000545063","url":null,"abstract":"<p><strong>Introduction: </strong>Non-classic lipoid congenital adrenal hyperplasia (LCAH) presents with adrenal insufficiency but typically lacks a gonadal phenotype or features a delayed-onset gonadal presentation. Information on fertility outcomes in affected individuals is limited.</p><p><strong>Case presentation: </strong>We describe an adult male with severe, early onset primary adrenal insufficiency, yet normal fertility, diagnosed in mid-adulthood with compound heterozygous STAR gene variants, including both known and novel mutations. The identified variants, c.814C>T (p.Arg272Cys) and c.743A>C (p.Lys248Thr), underwent structural and functional analysis, revealing partial enzymatic activity. A review of existing reports on the gonadal phenotype and fertility in non-classic LCAH identified only nine adult males. Among these, five exhibited normal gonadal function, but none had documented paternity.</p><p><strong>Conclusion: </strong>STAR variants may be present in adults with unresolved primary adrenal insufficiency and normal gonadal function. Infertility is not an inevitable outcome, as demonstrated by this case.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-8"},"PeriodicalIF":2.6,"publicationDate":"2025-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143596847","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":"Development of Obesity following Treatment for Childhood Malignancies.","authors":"Elpis Athina Vlachopapadopoulou","doi":"10.1159/000545045","DOIUrl":"10.1159/000545045","url":null,"abstract":"<p><strong>Background: </strong>Obesity, long viewed as a reversible outcome of personal choices, is influenced by a complex interplay of genetic, physiological, socioeconomic, and environmental factors. A special group of children and adolescents are the childhood cancer survivors (CCSs), as obesity and its comorbidities have been recognized as long-term effects following treatment for childhood malignancies and craniopharyngioma. The aim of this literature review was to report the epidemiological data, pathophysiology and risk factors regarding obesity development in CCS and the possible mediators. The possible mechanisms contributing to increased body mass index (BMI) include hypothalamic hyperphagia and hypothalamic-pituitary insufficiency, corticosteroid therapy, constitutional factors including genetic predisposition and variable sensitivity to corticosteroids. The risk factors are divided into two categories: those related to the initial diagnosis and the treatment modalities implicated and independent factors such as sex, age at diagnosis, ethnic origin, socioeconomic status and BMI at diagnosis.</p><p><strong>Summary: </strong>Higher risk for developing overweight/obesity face the CCS who had increased BMI at diagnosis, were younger than 6 years of age, received cranial radiation therapy even as low as 6 Gys, had tumors and surgery of the hypothalamic-pituitary region, craniopharyngioma and those who were treated with dexamethasone. They also have high likelihood of developing metabolic syndrome.</p><p><strong>Key messages: </strong>Obesity is one of the most prevalent long-term sequelae of treatment for childhood malignancies. CCSs already face a heightened risk of chronic diseases. Thus, it is crucial to prevent additional avoidable risk factors, such as obesity. All CCS should have height and weight measurements and BMI calculation, as well as being counseled annually on the importance of regular physical activity and heart-healthy diet.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-7"},"PeriodicalIF":2.6,"publicationDate":"2025-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143596846","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 Novel Variant in an Intron Splicing Enhancer Associated with Familial Growth Hormone Deficiency.","authors":"Sally Radovick, Mariam Gangat, Bethany Murphy, Jennifer L Miller, Youn Hee Jee","doi":"10.1159/000545037","DOIUrl":"10.1159/000545037","url":null,"abstract":"<p><strong>Introduction: </strong>Variants in the intron splicing enhancer (ISE) of intron 3 in the GH1 gene are implicated in the etiology of isolated growth hormone deficiency type 2 (type II IGHD).</p><p><strong>Methods: </strong>Exome sequencing was performed to screen variants that co-segregated with IGHD in an extended family with type II IGHD. The causality of the candidate variant was assessed using bioinformatic tools and previous in vitro studies.</p><p><strong>Results: </strong>Exome sequencing identified a rare intronic variant (NM_000515.5, c.291+34 G>A) in the second XGGG repeat of ISE in intron 3 of GH1, which occurred de novo in the mother with IGHD and was passed onto her two affected children. The variant was previously shown in vitro to cause exon 3 skipping in 50% of the mRNAs and was predicted to create a new binding site for exonic splicing enhancer binding proteins (SR proteins).</p><p><strong>Conclusion: </strong>Our familial case reiterates the importance of intronic variants in the splicing enhancer region as a cause of IGHD. Consideration should be given to sequencing the splicing enhancer region in intron 3 of GH1 for patients who undergo genetic testing for growth hormone deficiency.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-11"},"PeriodicalIF":2.6,"publicationDate":"2025-03-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143585538","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":"Children with Growth Hormone Deficiency Treated with Lonapegsomatropin Demonstrated Sustained Height Improvements for up to 6 Years: enliGHten Trial Final Results.","authors":"Aristides K Maniatis, Paul S Thornton, Ulhas M Nadgir, Elpis Vlachopapadopoulou, Oleg Malievskiy, Elena M Aghajanova, Maria Korpal-Szczyrska, Katie A Woods, Meng Mao, Carol Zhao, Sohair G Abdelrahman, Eric A Huang, Allison S Komirenko, Aimee D Shu, Paul Hofman","doi":"10.1159/000545064","DOIUrl":"10.1159/000545064","url":null,"abstract":"<p><strong>Introduction: </strong>This international, Phase 3, open-label extension trial evaluated the long-term safety and efficacy of once-weekly lonapegsomatropin in children with growth hormone deficiency (GHD).</p><p><strong>Methods: </strong>Conducted across 63 sites (15 countries), the enliGHten trial enrolled children with GHD who previously participated in a Phase 3 lonapegsomatropin trial (heiGHt or fliGHt). Participants received subcutaneous injections of lonapegsomatropin dosed at 0.24 mg hGH/kg/week. Safety was monitored through adverse events, local tolerability, hormone levels, and metabolic parameters. Efficacy was evaluated through annualized height velocity (AHV), change in height standard deviation score (SDS), and IGF-1 SDS.</p><p><strong>Results: </strong>Lonapegsomatropin demonstrated sustained efficacy with mean height SDS (-0.39 at year 4, n = 298) approaching the mean for children of average stature (height SDS = 0) over time. Eighty-one participants completed treatment for pediatric GHD during the trial, and 48 (59.3%) of these met or exceeded their average parental height SDS at their last visit. For the full population, mean values of weekly average IGF-1 remained within 0-2 SDS throughout the trial. Growth was maintained throughout pubertal development and the dose remained stable throughout the trial. Adverse events were mostly mild or moderate and remained consistent with prior reports of daily somatropin with no evidence of accelerated skeletal maturation or safety signals associated with anti-drug antibodies.</p><p><strong>Conclusion: </strong>Treatment of pediatric GHD with lonapegsomatropin in the enliGHten trial provided robust growth outcomes and maintained a safety profile comparable to that of daily GH in a population with a broad range of pubertal statuses.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-13"},"PeriodicalIF":2.6,"publicationDate":"2025-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12060840/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143572930","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":"Optimal Low-Dose Synacthen Stimulation Test Sampling Time for Diagnosis of Adrenal Insufficiency Using Monoclonal Antibody Immunoassay.","authors":"Busra Gurpinar Tosun, Serap Turan, Goncagul Haklar, Abdullah Bereket, Tulay Guran","doi":"10.1159/000544945","DOIUrl":"10.1159/000544945","url":null,"abstract":"<p><strong>Introduction: </strong>The low-dose synacthen stimulation test (LDSST) evaluates hypothalamo-pituitary-adrenal axis function. However, studies on the correlation between morning basal and stimulated cortisol concentrations using specific monoclonal antibody (mAb) immunoassays during LDSST are limited. To determine the best time-points and sampling approach for cortisol measurement using mAb immunoassay in children during LDSST.</p><p><strong>Methods: </strong>Morning basal and stimulated serum cortisol measurements in the LDSST were prospectively analyzed in 132 children (61 girls) with clinical suspicion of adrenal insufficiency (AI). Serum cortisol concentrations were assessed at 0, 30, 40, and 60th minutes during LDSST using mAb immunoassay. Simultaneously, morning basal cortisol levels in 119 patients were measured with both mAb immunoassay and liquid chromatography-mass spectrometry. AI was defined by a peak plasma cortisol concentration below 18 μg/dL (500 nmol/L).</p><p><strong>Results: </strong>AI was excluded in 80.3% (n = 106) of patients. The 40th minute showed the highest specificity (89.1%) for predicting LDSST outcomes with a single cortisol measurement. For two time-point measurements, the 40th and 60th minutes were significantly more sensitive than other possibilities (p < 0.001). A morning basal cortisol level below 6.5 μg/dL was identified as predictive of a failed LDSST result.</p><p><strong>Conclusions: </strong>In LDSST, measurement of plasma cortisol at 40th and 60th minutes reduces the risk of false positivity. Single sampling at 40th minute yielded fewer false negatives than sampling at 30th or 60th minute.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-8"},"PeriodicalIF":2.6,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143541476","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":"10.1159/000543580","DOIUrl":"https://doi.org/10.1159/000543580","url":null,"abstract":"","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1"},"PeriodicalIF":2.6,"publicationDate":"2025-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143536954","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":"Prolonged Pubertal Suppression due to Retained Histrelin Implant in Three Children with Central Precocious Puberty.","authors":"Ian Marpuri, Mitchell E Geffner, Lily C Chao","doi":"10.1159/000544181","DOIUrl":"10.1159/000544181","url":null,"abstract":"<p><strong>Introduction: </strong>Histrelin acetate implant (HI) is an approved treatment option for children with central precocious puberty. Implant duration has been reported to surpass the recommended replacement interval of 1-2 years. Implant breakage is a known potential adverse effect during the extraction procedure. However, the bioactivity of the retained fragment has not been reported previously.</p><p><strong>Case presentation: </strong>We present 3 cases of females with central precocious puberty, who received HI for pubertal suppression and experienced implant breakage during extraction. In 2 cases, the retained fragment suppressed pubertal hormone for 5 years. In the third case, the HI was left in place due to loss of follow-up, and the patient was amenorrheic for the next 6 years. In all 3 cases, menstruation occurred after the HI fragments were surgically removed.</p><p><strong>Conclusion: </strong>Our case series demonstrates that retained HI fragment can be bioactive for up to 5 years. If HI breakage occurs during removal, ultrasound localization and surgical extraction of the fragment should be performed.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-5"},"PeriodicalIF":2.6,"publicationDate":"2025-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143523320","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}