Hormone Research in Paediatrics最新文献_第5页

The Central Control of Energy Metabolism: Hypothalamic Obesity Is Not One Disease. 能量代谢的中枢控制；下丘脑肥胖不是一种疾病。

IF 2.6 3区医学

Hormone Research in Paediatrics Pub Date : 2025-01-16 DOI: 10.1159/000543544

Hanneke M van Santen

{"title":"The Central Control of Energy Metabolism: Hypothalamic Obesity Is Not One Disease.","authors":"Hanneke M van Santen","doi":"10.1159/000543544","DOIUrl":"10.1159/000543544","url":null,"abstract":"Background: The hypothalamus, a neuroendocrine gland centrally in the brain, weighs only on average 4 grams but is the captain on the ship of our energy balance. In the hypothalamus, signals of the satiety and hunger hormones are integrated and individuals with a dysfunctional hypothalamus develop obesity. The hypothalamus, however, integrates much more than the satiety and hunger hormones, and hypothalamic obesity may be the result of a combination of factors.Summary: The consequences of hypothalamic dysfunction can be categorized in six different domains. By systematically evaluating each domain, the underlying cause for obesity may be better understood, and doors for successful management can be opened. The different domains are; pituitary gland dysfunction, behavioral problems, disturbance of the circadian rhythm, hyperphagia, low resting energy expenditure, and temperature dysregulation. All of these domains may contribute to the development of obesity and may be more or less present in the individual patient.Key messages: Hypothalamic obesity is not one disease, but different underlying contributing factors may be present. Consequently, hypothalamic obesity management is not one-size-fits-all but needs to be personalized. In this paper, the current state of the art for both the diagnostics and approach of acquired hypothalamic obesity is reviewed.","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-10"},"PeriodicalIF":2.6,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143004597","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Growth and Recombinant Human Growth Hormone Use in Children with Congenital Chronic Kidney Disease: A Multicentric Contemporary Study. 生长和rhGH在先天性慢性肾病儿童中的应用：一项多中心的当代研究

IF 2.6 3区医学

Hormone Research in Paediatrics Pub Date : 2025-01-16 DOI: 10.1159/000543435

Séverine Dubois, Charlotte Duneton, Rémi Salomon, Tim Ulinski, Priscilla Boizeau, Jean-Claude Carel, Dominique Simon

{"title":"Growth and Recombinant Human Growth Hormone Use in Children with Congenital Chronic Kidney Disease: A Multicentric Contemporary Study.","authors":"Séverine Dubois, Charlotte Duneton, Rémi Salomon, Tim Ulinski, Priscilla Boizeau, Jean-Claude Carel, Dominique Simon","doi":"10.1159/000543435","DOIUrl":"10.1159/000543435","url":null,"abstract":"Introduction: Growth retardation is common in children with chronic kidney disease (CKD) and reflects CKD severity. Recombinant human growth hormone (rhGH) treatment was approved for CKD in 1995. We describe treatment patterns and growth outcomes in children with congenital CKD in three pediatric nephrology departments.Methods: We included patients with kidney transplantation performed between 2015 and 2020 at an age of 3-18 years. Data were collected at four timepoints: CKD diagnosis, initiation of rhGH, initiation of dialysis, and transplantation.Results: Among 87 patients, 42 (48%) received rhGH. The median height at treatment initiation was -2.0 SDS, with a median height gain of +0.7 SD (p < 0.0001) in 1.7 years. Growth outcomes were negatively associated with older age and CKD stage 5. The 45 rhGH-untreated patients lost 0.6 SD (p = 0.02) from diagnosis to transplantation but maintained their height in the normal range. At transplantation, 26% of rhGH-treated and 9% of rhGH-untreated patients had a height SDS below -2 SDS. rhGH was initiated by nephrologists in 52% of cases and endocrinologists in 48%. Deviations from marketing authorization criteria were observed in 68% of cases: endocrinologists typically prescribed rhGH for children under 2 years, while nephrologists prescribed it for patients with a height above -2 SDS.Conclusion: About half of CKD patients received rhGH treatment, resulting in significant height gain. Untreated patients were not adversely affected in terms of height. These data highlight the importance of careful monitoring of growth and rhGH treatment if needed in patients with CKD.","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-9"},"PeriodicalIF":2.6,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143004593","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Felix A. Conte, MD 1935-2024. The endocrinologist's endocrinologist. 菲利克斯·a·孔蒂博士1935-2024。内分泌学家的内分泌学家。

IF 2.6 3区医学

Hormone Research in Paediatrics Pub Date : 2025-01-15 DOI: 10.1159/000543610

Walter L Miller, Stephen M Rosenthal, Stephen E Gitelman, Robert H Lustig, Dennis M Styne

引用次数: 0

Epigenetics of Childhood Obesity. 儿童肥胖的表观遗传学。

IF 2.6 3区医学

Hormone Research in Paediatrics Pub Date : 2025-01-14 DOI: 10.1159/000543467

Maria Keller, Mandy Vogel, Antje Garten, Stina Ingrid Alice Svensson, Elena Rossi, Peter Kovacs, Yvonne Böttcher, Wieland Kiess

{"title":"Epigenetics of Childhood Obesity.","authors":"Maria Keller, Mandy Vogel, Antje Garten, Stina Ingrid Alice Svensson, Elena Rossi, Peter Kovacs, Yvonne Böttcher, Wieland Kiess","doi":"10.1159/000543467","DOIUrl":"10.1159/000543467","url":null,"abstract":"Background: Childhood obesity has become a global pandemic and is one of the strongest risk factors for cardiovascular disease later in life. The correlation of epigenetic marks with obesity and related traits is being elucidated. This review summarizes the latest research and its challenges in the study of epigenetics of (childhood) obesity.Summary: Epigenome-wide association studies helped identify novel targets and methylation sites that are important in the pathophysiology of obesity. In the future, such sites will become essential for developing methylation risk scores (MRS) for metabolic and cardiovascular diseases. Although MRS are very promising for predicting the individual risk of obesity, the implementation of MRS is challenging and has not been introduced into clinical practice so far.Key messages: Future research will undoubtedly discover numerous methylation sites that may be involved in the development of obesity and its comorbidities, especially at a young age. This will contribute to a better understanding of the complex etiology of human obesity. From a clinical perspective, the overarching aim was to generate MRS that is robust for reliable and accurate prediction of obesity and its comorbidities.","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-13"},"PeriodicalIF":2.6,"publicationDate":"2025-01-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142983211","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The Endocrine Chameleon: Expanding the Phenotype of Pseudohypoparathyroidism 1A in Infancy. 内分泌变色龙：扩大婴儿期伪性甲状旁腺功能减退1A的表型。

IF 2.6 3区医学

Hormone Research in Paediatrics Pub Date : 2025-01-10 DOI: 10.1159/000543167

Martin Munteanu, Elisabeth Resch, Victor Bildheim, Sabine Hoffjan, Bernhard Erdlenbruch, Agnès Linglart, Corinna Grasemann

{"title":"The Endocrine Chameleon: Expanding the Phenotype of Pseudohypoparathyroidism 1A in Infancy.","authors":"Martin Munteanu, Elisabeth Resch, Victor Bildheim, Sabine Hoffjan, Bernhard Erdlenbruch, Agnès Linglart, Corinna Grasemann","doi":"10.1159/000543167","DOIUrl":"10.1159/000543167","url":null,"abstract":"Introduction: Pseudohypoparathyroidism 1A (PHP1A) is the best-known representative of inactivating parathyroid hormone (PTH)/PTHrP-signaling disorders (iPPSD). The associated phenotype develops over time and often includes hormonal resistances, short stature, and osteoma cutis. More complex and very early manifestations have also been reported. Neonatal complications may indicate a more severe course of the disease. Here, we report 3 patients with heterozygous GNAS variants and infancy onset of iPPSD2/PHP1A.Case presentations: Patient 1 is a 15-month-old boy who presented with severe chronic noninfectious diarrhea and elevated thyroid-stimulating hormone (TSH) beginning at 1 month of age, leading to life-threatening failure to thrive. Patient 2 is a 4-year-old boy with a history of bronchopulmonary dysplasia as well as neonatal-onset severe pulmonary complications, including critical pulmonary bleeding and recurring pulmonary infections and TSH elevation. Patient 3 is a 4-year-old girl who exhibited signs of PTH resistance and progressive osteoma cutis at the age of 1-2 weeks and obesity at the age of 3 months.Conclusion: The phenotypic spectrum of iPPSD2/PHP1A in neonates and infants may include severe gastrointestinal, pulmonary, and endocrine manifestations, which may delay diagnosis if not recognized as a spectrum disorder of Gsα deficiency. The cases support the hypothesis that early-life manifestations may indicate a more complicated course of the disease. Elevated PTH or TSH in infants with unclear symptoms or conditions should prompt evaluation for disorders of the iPPSD spectrum. In the absence of reliable predictors for the individual courses of PHP1A, in-depth clinical screening for possible manifestations beyond the classical spectrum is warranted even in infancy.","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-8"},"PeriodicalIF":2.6,"publicationDate":"2025-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142970581","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Congenital Hyperinsulinism and Long QT Syndrome Attributable to a Variant in KCNE1. KCNE1基因变异引起的先天性高胰岛素血症和长QT综合征。

IF 2.6 3区医学

Hormone Research in Paediatrics Pub Date : 2025-01-08 DOI: 10.1159/000542552

Winifred Sigal, Kara E Boodhansingh, Arupa Ganguly, Lauren M Mitteer, Charles A Stanley, Diva D De León

{"title":"Congenital Hyperinsulinism and Long QT Syndrome Attributable to a Variant in KCNE1.","authors":"Winifred Sigal, Kara E Boodhansingh, Arupa Ganguly, Lauren M Mitteer, Charles A Stanley, Diva D De León","doi":"10.1159/000542552","DOIUrl":"10.1159/000542552","url":null,"abstract":"Introduction: This is a report of a child with congenital hyperinsulinism associated with a loss-of-function variant in KCNE1. KCNE1 encodes a human potassium channel accessory (beta) subunit that modulates potassium channel Kv7.1 (encoded by KCNQ1). Loss-of-function pathogenic variants in either the KCNQ1 or KCNE1 genes result in long QT syndrome by causing prolongation in the action potential duration at the cellular level. In addition to long QT syndrome, the phenotype associated with loss-of-function pathogenic variants in KCNQ1 is characterized by postprandial hyperinsulinemic hypoglycemia.Case presentation: Clinical data for the proband were extracted from the medical records. The proband presented with fasting hypoglycemia due to hyperinsulinism in early childhood as well as postprandial hypoglycemia triggered by carbohydrates and by protein. Whole-exome sequencing was undertaken in genomic DNA isolated from proband and both parents. Whole-exome sequencing revealed a variant in KCNE1 inherited from the father, who also has a history of hyperinsulinism. Both the patient and father were subsequently diagnosed with long QT syndrome. The proband and father underwent phenotype testing including fasting test, oral glucose tolerance test, oral protein tolerance test, and exercise tolerance test.Conclusions: This case illustrates that loss-of-function variants in KCNE1, similar to KCNQ1, are associated with a cardiac and a beta cell phenotype, and thus, this patient population should be screened for hypoglycemia, particularly in the postprandial state.","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-10"},"PeriodicalIF":2.6,"publicationDate":"2025-01-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142948125","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Metabolic and Bariatric Surgery in Adolescents: A Single-Center Study of Efficacy and Outcome Predictors. 青少年代谢和减肥手术：一项疗效和结果预测因素的单中心研究。

IF 2.6 3区医学

Hormone Research in Paediatrics Pub Date : 2025-01-07 DOI: 10.1159/000543383

Reem Hassan Beck, Imrana Afrooz, Mohammed Suhail Masalawala, Rama Watad, Talat Al Shaban, Asma Deeb

{"title":"Metabolic and Bariatric Surgery in Adolescents: A Single-Center Study of Efficacy and Outcome Predictors.","authors":"Reem Hassan Beck, Imrana Afrooz, Mohammed Suhail Masalawala, Rama Watad, Talat Al Shaban, Asma Deeb","doi":"10.1159/000543383","DOIUrl":"10.1159/000543383","url":null,"abstract":"Introduction: Some adolescents undergoing metabolic and bariatric surgery (MBS) have suboptimal responses to surgery, particularly over the longer term. This study aimed to quantify changes in weight loss over time in adolescents undergoing MBS and identify preoperative predictors of weight loss.Methods: This was a prospective, observational cohort study of 73 adolescents (12-19 years) living with obesity undergoing MBS. Absolute and relative changes in anthropometric and biochemical parameters were evaluated up to 30 months. Changes in anthropometric measures were assessed using a mixed residual maximal likelihood model. Univariable and multivariable logistic regression were used to identify predictors of a >35.0% reduction in BMI z-score from baseline to 12 months. Predictive accuracy was assessed by area under the receiver operating characteristics analysis.Results: Most patients (87.7%) underwent laparoscopic sleeve gastrectomy (12.3% underwent laparoscopic sleeve bypass). Weight, weight z-score, BMI, and BMI z-score significantly decreased over 30 months (p < 0.001) up to a -53.8% relative change in BMI z-score at 30 months. There was a significant increase (p = 0.02) in high-density lipoprotein cholesterol and a significant decrease in triglycerides (p = 0.0001) and ALT (p = 0.0004) after surgery. A higher preoperative BMI was associated with a reduced odds (OR 0.89, 95% CI 0.79-0.97, p = 0.03) of a >35% reduction in BMI z-score at 12 months. A baseline BMI >52.6 kg/m2 had a sensitivity of 100% and specificity of 40.6% for detecting a >35.0% postoperative decrease in BMI z-score.Conclusion: MBS results in sustained weight loss in adolescents. A high preoperative BMI predicts resistance to optimal weight loss after surgery and argues against delaying surgery once eligibility thresholds are met.","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-10"},"PeriodicalIF":2.6,"publicationDate":"2025-01-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142948129","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Rarity of Congenital Adrenal Hyperplasia in Children Born Very Preterm: Possible Mechanism and Implication for Newborn Screening. 早产儿先天性肾上腺增生的罕见性：可能的机制及其对新生儿筛查的意义。

IF 2.6 3区医学

Hormone Research in Paediatrics Pub Date : 2025-01-06 DOI: 10.1159/000543430

Asmahane Ladjouze, Yasmina Ouarezki, Adel Djermane, Sakina Kherra, Meriem Bensalah, Kahina Mohammedi, Dalila Douiri, Nourredine Boutaghane, Zair Bouzerar, Guy Van Vliet

{"title":"Rarity of Congenital Adrenal Hyperplasia in Children Born Very Preterm: Possible Mechanism and Implication for Newborn Screening.","authors":"Asmahane Ladjouze, Yasmina Ouarezki, Adel Djermane, Sakina Kherra, Meriem Bensalah, Kahina Mohammedi, Dalila Douiri, Nourredine Boutaghane, Zair Bouzerar, Guy Van Vliet","doi":"10.1159/000543430","DOIUrl":"https://doi.org/10.1159/000543430","url":null,"abstract":"Introduction: Screening for congenital adrenal hyperplasia (CAH) through the measurement of 17-hydroxyprogesterone on the neonatal blood spot aims to: (a) prevent neonatal deaths; (b) allow earlier identification and thereby decrease the severity of the initial salt-wasting episode; and (c) shorten the time during which a severely virilized genetic female newborn may be assigned the male sex. It is now practiced in the majority of high-income countries, although the positive predictive value of the test is very low in infants born preterm, who seem to be infrequently affected. In almost all low- and middle-income countries, it has not yet been implemented.Methods: To determine if it is justified in such a country, we evaluated the prevalence of premature birth and the sex ratio in a cohort of 299 singleton Algerian infants diagnosed with CAH.Results: Only 4% were born before 37 weeks of gestational age, less than the 14.3% observed in the general Algerian population. None was born before 34 weeks of gestation. The SW form of the disease was confirmed in 93 boys and 139 girls.Conclusion: We speculate that the combination of a high production of 17-hydroxyprogesterone with a low production of cortisol by the fetus with CAH accounts for the rarity of very preterm birth in this population. We suggest that newborn screening for CAH is necessary in Algeria to equalize the sex ratio but that it could be restricted to neonates born after 32 weeks of gestation, thereby possibly improving the cost-effectiveness ratio of this intervention.","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-7"},"PeriodicalIF":2.6,"publicationDate":"2025-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143669541","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Diagnostic Utility of Low-Dose Cosyntropin Stimulation Test for Central Adrenal Insufficiency. 低剂量共syntropin刺激试验对中枢性肾上腺功能不全的诊断价值。

IF 2.6 3区医学

Hormone Research in Paediatrics Pub Date : 2025-01-06 DOI: 10.1159/000543394

Cesare Morgante, Kanthi Bangalore Krishna, Erika McCann, Selma Feldman Witchel, Wassim Chemaitilly, Luigi Garibaldi, Emir Tas

{"title":"Diagnostic Utility of Low-Dose Cosyntropin Stimulation Test for Central Adrenal Insufficiency.","authors":"Cesare Morgante, Kanthi Bangalore Krishna, Erika McCann, Selma Feldman Witchel, Wassim Chemaitilly, Luigi Garibaldi, Emir Tas","doi":"10.1159/000543394","DOIUrl":"https://doi.org/10.1159/000543394","url":null,"abstract":"Introduction: Consensus regarding the diagnostic cutoff values for cortisol responses to low-dose cosyntropin testing (LDT) and its specific advantages over standard high-dose test (HDT) in assessing the pituitary-adrenal axis in children is lacking.Methods: In a retrospective study, patients who underwent sequential LDT and HDT were classified into two groups depending on the reason for testing: prolonged systemic glucocorticoid exposure (group 1) or suspected hypothalamic-pituitary dysfunction (group 2). Sensitivity and specificity analysis of varying cortisol levels during LDT in diagnosing adrenocorticotropic hormone (ACTH) deficiency (ACTHD) were calculated via the receiver operating characteristic curve analysis against the reference diagnostic test HDT. ACTHD was defined as peak cortisol level <18 μg/dL (500 nmol/L) in HDT.Results: This analysis included 112 patients, of whom 20 were diagnosed with ACTHD. There was a strong correlation between peak cortisol levels during LDT and HDT (r = 0.93, p < 0.001). A cortisol peak of 13.5 μg/dL (372 nmol/L) during the LDT had the best diagnostic accuracy (Sensitivity 90%, Specificity 90%: area under the curve 0.973 [95% CI: 0.945-1, p < 0.001]) in the entire cohort. A higher cortisol level was needed for group 1 to achieve comparable performance to group 2 (14.5 vs. 11.5 μg/dL [317 nmol/L], respectively).Conclusions: The strong correlation between cortisol responses in the LDT and HDT suggests that, when appropriately lower cutoff values are applied, the LDT provides results comparable to the HDT.","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-8"},"PeriodicalIF":2.6,"publicationDate":"2025-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143364424","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

PedsENDO Discovery: A Novel Program to Address the Pediatric Endocrinology Workforce Shortage. 致编辑的信PedsENDO 发现：一项解决儿科内分泌学人才短缺问题的新计划。

IF 2.6 3区医学

Hormone Research in Paediatrics Pub Date : 2025-01-01 Epub Date: 2024-02-02 DOI: 10.1159/000536622

Alissa Roberts, Janel Hunter, Doris Fadoju, Marissa J Kilberg, Ellen K Grishman

引用次数: 0