Journal of Clinical Endocrinology & Metabolism最新文献

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Chimeric CYP21A1P/CYP21A2 Genes in 21-Hydroxylase Deficiency Detected by Long-Read Sequencing and Phenotypes Correlation. 通过长读测序发现的21-羟化酶缺乏症中的嵌合CYP21A1P/CYP21A2基因与表型的相关性。
IF 5.1 2区 医学
Journal of Clinical Endocrinology & Metabolism Pub Date : 2025-09-16 DOI: 10.1210/clinem/dgae819
Xiaoxia Zhang, Yinjie Gao, Lin Lu, Yaqing Cao, Wei Zhang, Xueyan Wu, Anli Tong, Shi Chen, Xi Wang, Jiangfeng Mao, Min Nie
{"title":"Chimeric CYP21A1P/CYP21A2 Genes in 21-Hydroxylase Deficiency Detected by Long-Read Sequencing and Phenotypes Correlation.","authors":"Xiaoxia Zhang, Yinjie Gao, Lin Lu, Yaqing Cao, Wei Zhang, Xueyan Wu, Anli Tong, Shi Chen, Xi Wang, Jiangfeng Mao, Min Nie","doi":"10.1210/clinem/dgae819","DOIUrl":"10.1210/clinem/dgae819","url":null,"abstract":"<p><strong>Context: </strong>21-Hydroxylase deficiency (21-OHD) is caused by pathogenic variants in CYP21A2. High homology between CYP21A2 and its pseudogene CYP21A1P causes mismatches, leading to deletions and CYP21A1P/CYP21A2 chimeras.</p><p><strong>Objective: </strong>To detect chimeric CYP21A1P/CYP21A2 in 21-OHD patients using long-read sequencing (LRS) and analyze genotype-phenotype correlations.</p><p><strong>Methods: </strong>From 2015 to 2023, 869 21-OHD patients were enrolled at Peking Union Medical College Hospital, with 113 identified harboring CYP21A2 large deletion. Long-range PCR and LRS were used to identify the types of CYP21A1P/CYP21A2 chimeric. Haplotype analysis explored founder effects, and in vitro assays assessed the functional impact of novel mutations. Clinical data were retrospectively collected and patients were classified into 4 groups based on genotypes and residual enzyme activity to study genotype-phenotype correlations.</p><p><strong>Results: </strong>Ten types of chimeric CYP21A1P/CYP21A2 genes were identified across 119 alleles, including a novel type, CH-10. The most common, CH-1, accounted for 50.4% of all types. Haplotype analysis of 24 SNPs within CYP21A1P/CYP21A2 CH-1 revealed 25 haplotypes, with haplotype 11 being the most prevalent. Variants p.L100P and p.L301V of CYP21A2 showed enzyme activities of 1.36 ± 0.44% or 1.63 ± 0.19% for 17-hydroxyprogesterone to 11-deoxycortisol, and 1.36 ± 0.58% or 3.99 ± 1.09% for progesterone to 11-deoxycorticosterone, respectively, linked to the simple virilizing type. Genotype-phenotype consistency rates were 78.6% to 84% across the 4 groups.</p><p><strong>Conclusion: </strong>LRS is a comprehensive genetic testing method for 21-OHD patients, effectively detecting both CYP21A2 gene variants and CYP21A1P/CYP21A2 chimeric gene types. This study expands the CYP21A2 variant spectrum by identifying a novel chimera. Haplotype analysis revealed diverse haplotypes for each chimeric gene type, suggesting the absence of a common founder effect. The strong genotype-phenotype correlation aids genetic counseling and supports personalized treatment.</p>","PeriodicalId":50238,"journal":{"name":"Journal of Clinical Endocrinology & Metabolism","volume":" ","pages":"e3322-e3333"},"PeriodicalIF":5.1,"publicationDate":"2025-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143191134","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
Fetuin B Is Related to Cytokine/Chemokine and Insulin Signaling in Adipose Tissue and Plasma in Humans. 胎儿素B与人类脂肪组织和血浆中的细胞因子/趋化因子和胰岛素信号传导有关。
IF 5.1 2区 医学
Journal of Clinical Endocrinology & Metabolism Pub Date : 2025-09-16 DOI: 10.1210/clinem/dgaf073
Esther J Kemper, Gijs H Goossens, Ellen E Blaak, Michiel E Adriaens, Ruth C R Meex
{"title":"Fetuin B Is Related to Cytokine/Chemokine and Insulin Signaling in Adipose Tissue and Plasma in Humans.","authors":"Esther J Kemper, Gijs H Goossens, Ellen E Blaak, Michiel E Adriaens, Ruth C R Meex","doi":"10.1210/clinem/dgaf073","DOIUrl":"10.1210/clinem/dgaf073","url":null,"abstract":"<p><strong>Context: </strong>Fetuin B is a steatosis-responsive hepatokine that induces glucose intolerance in mice. Recently, we found that fetuin B in white adipose tissue was positively associated with peripheral insulin resistance in mice and a small study population, possibly through a fetuin B-induced inflammatory response in adipocytes.</p><p><strong>Objective: </strong>This translational study aimed to investigate the link between plasma fetuin B and the adipose tissue transcriptome and plasma proteome in a large cohort of humans.</p><p><strong>Methods: </strong>Continuous linear regression analysis in R was applied to investigate the link between plasma fetuin B and the adipose tissue transcriptome (n = 207) and plasma proteome (n = 558) in humans, after adjustment for sex, age, and study center (model 1); model 1 + BMI (model 2); and model 2 + insulin sensitivity (Matsuda index) (model 3).</p><p><strong>Results: </strong>Plasma fetuin B was associated with more than 100 genes in white adipose tissue, belonging to pathways related to cytokine/chemokine signaling (models 1 and 2) and insulin signaling (all models), and with more than 146 plasma proteins involved in pathways related to metabolic processes and insulin signaling (all models).</p><p><strong>Conclusion: </strong>Plasma fetuin B is related to adipose tissue genes and plasma proteins involved in metabolic processes and insulin signaling. Our findings provide evidence for the involvement of white adipose tissue in fetuin B-induced insulin resistance.</p>","PeriodicalId":50238,"journal":{"name":"Journal of Clinical Endocrinology & Metabolism","volume":" ","pages":"e3235-e3244"},"PeriodicalIF":5.1,"publicationDate":"2025-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12448607/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143366732","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Machine Learning-Based Survival Prediction Tool for Adrenocortical Carcinoma. 基于机器学习的肾上腺皮质癌生存预测工具。
IF 5.1 2区 医学
Journal of Clinical Endocrinology & Metabolism Pub Date : 2025-09-16 DOI: 10.1210/clinem/dgaf096
Emre Sedar Saygili, Yasir S Elhassan, Alessandro Prete, Juliane Lippert, Barbara Altieri, Cristina L Ronchi
{"title":"Machine Learning-Based Survival Prediction Tool for Adrenocortical Carcinoma.","authors":"Emre Sedar Saygili, Yasir S Elhassan, Alessandro Prete, Juliane Lippert, Barbara Altieri, Cristina L Ronchi","doi":"10.1210/clinem/dgaf096","DOIUrl":"10.1210/clinem/dgaf096","url":null,"abstract":"<p><strong>Context: </strong>Adrenocortical carcinoma (ACC) is a rare, aggressive malignancy with difficult to predict clinical outcomes. The S-GRAS score combines clinical and histopathological variables (tumor stage, grade, resection status, age, and symptoms) and showed good prognostic performance for patients with ACC.</p><p><strong>Objective: </strong>To improve ACC prognostic classification by applying robust machine learning (ML) models.</p><p><strong>Method: </strong>We developed ML models to enhance outcome prediction using the published S-GRAS dataset (n = 942) as the training cohort and an independent dataset (n = 152) for validation. Sixteen ML models were constructed based on individual clinical variables. The best-performing models were used to develop a web-based tool for individualized risk prediction.</p><p><strong>Results: </strong>Quadratic Discriminant Analysis, Light Gradient Boosting Machine, and AdaBoost Classifier models exhibited the highest performance, predicting 5-year overall mortality (OM), and 1-year and 3-year disease progression (DP) with F1 scores of 0.79, 0.63, and 0.83 in the training cohort, and 0.72, 0.60, and 0.83 in the validation cohort. Sensitivity and specificity for 5-year OM were at 77% and 77% in the training cohort, and 65% and 81% in the validation cohort, respectively. A web-based tool (https://acc-survival.streamlit.app) was developed for easily applicable and individualized risk prediction of mortality and disease progression.</p><p><strong>Conclusion: </strong>S-GRAS parameters can efficiently predict outcome in patients with ACC, even using a robust ML model approach. Our web app instantly estimates the mortality and disease progression for patients with ACC, representing an accessible tool to drive personalized management decisions in clinical practice.</p>","PeriodicalId":50238,"journal":{"name":"Journal of Clinical Endocrinology & Metabolism","volume":" ","pages":"e3185-e3192"},"PeriodicalIF":5.1,"publicationDate":"2025-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12448644/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143416098","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Influence of Bariatric Surgery on Endothelial and Glycocalyx Biomarkers in Obesity and Type 2 Diabetes. 减肥手术对肥胖和2型糖尿病患者内皮细胞和糖萼生物标志物的影响
IF 5.1 2区 医学
Journal of Clinical Endocrinology & Metabolism Pub Date : 2025-09-16 DOI: 10.1210/clinem/dgaf092
Maja Andersson, Anna Ågren, Peter Henriksson, Håkan Wallén, Anders Thorell
{"title":"Influence of Bariatric Surgery on Endothelial and Glycocalyx Biomarkers in Obesity and Type 2 Diabetes.","authors":"Maja Andersson, Anna Ågren, Peter Henriksson, Håkan Wallén, Anders Thorell","doi":"10.1210/clinem/dgaf092","DOIUrl":"10.1210/clinem/dgaf092","url":null,"abstract":"<p><strong>Context: </strong>Bariatric surgery is associated with reduced risk of cardiometabolic disease in obesity and type 2 diabetes (T2D). The mechanisms are not fully understood, but improvement in endothelial dysfunction has been implicated.</p><p><strong>Objective: </strong>This work aimed to assess endothelial biomarkers before and after surgery.</p><p><strong>Methods: </strong>A prospective cohort study with 2-year follow-up was conducted at a single center in Stockholm, Sweden. Participants included adults undergoing bariatric surgery, 28 with and 33 without T2D. Intervention included Roux-en-Y gastric bypass preceded by a 2-week low-calorie diet (LCD). Main outcome measures included plasma concentrations of glycocalyx biomarkers (hyaluronan [HA] and syndecan-1), E-Selectin, von Willebrand factor (VWF), and thrombomodulin (TM).</p><p><strong>Results: </strong>At baseline, patients with diabetes had higher concentrations of E-Selectin (P = .041) whereas other biomarkers did not differ between groups. After LCD, E-Selectin, syndecan-1, and VWF were reduced. Two years after surgery, TM was unchanged whereas E-Selectin decreased, geometric mean (CV%) 41 (40) to 24 (61) ng/mL, syndecan-1 from 50 (73) to 38 (81) ng/mL, and VWF from 120 (52) to 103 (45)%, while HA increased from 25 (96) to 40 (78) ng/mL (P < .001 for all). E-Selectin initially declined faster in patients with diabetes (P < .003); otherwise the biomarker changes did not differ between groups. Variables with the highest predictive value for improvement in biomarkers were decrease in body weight and fat mass and increase in insulin sensitivity (HOMA-IR).</p><p><strong>Conclusion: </strong>Bariatric surgery is associated with sustained, beneficial alterations in biomarkers of glycocalyx and endothelial function in patients with obesity, both with and without T2D. It is suggested that reduced body weight/fat mass and improved insulin sensitivity are of particular importance for these alterations.</p>","PeriodicalId":50238,"journal":{"name":"Journal of Clinical Endocrinology & Metabolism","volume":" ","pages":"e3193-e3202"},"PeriodicalIF":5.1,"publicationDate":"2025-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12448601/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143411389","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Lower Sex Hormone-Binding Globulin and Faster Maturation Elevate Free Testosterone For Age in Girls With Obesity. 较低的性激素结合球蛋白和较快的成熟速度会使肥胖女孩体内的年龄游离睾酮升高。
IF 5.1 2区 医学
Journal of Clinical Endocrinology & Metabolism Pub Date : 2025-09-16 DOI: 10.1210/clinem/dgae753
Francis de Zegher, Lourdes Ibáñez
{"title":"Lower Sex Hormone-Binding Globulin and Faster Maturation Elevate Free Testosterone For Age in Girls With Obesity.","authors":"Francis de Zegher, Lourdes Ibáñez","doi":"10.1210/clinem/dgae753","DOIUrl":"10.1210/clinem/dgae753","url":null,"abstract":"","PeriodicalId":50238,"journal":{"name":"Journal of Clinical Endocrinology & Metabolism","volume":" ","pages":"e3534-e3535"},"PeriodicalIF":5.1,"publicationDate":"2025-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142565026","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
FSH and Sertoli Cell Biomarkers Accurately Distinguish Hypogonadotropic Hypogonadism From Self-limited Delayed Puberty. 卵泡刺激素和支持细胞生物标志物能准确区分促性腺功能减退症和自限性青春期延迟症。
IF 5.1 2区 医学
Journal of Clinical Endocrinology & Metabolism Pub Date : 2025-09-16 DOI: 10.1210/clinem/dgaf062
Sebastián Castro, Lourdes Correa Brito, Patricia Bedecarrás, María Gabriela Ballerini, Gabriela Sansó, Ana Keselman, Hamilton Cassinelli, Andrea Josefina Arcari, Guillermo F Alonso, Yee-Ming Chan, Wen He, María Gabriela Ropelato, Ignacio Bergadá, Fernando Cassorla, Rodolfo A Rey, Romina P Grinspon
{"title":"FSH and Sertoli Cell Biomarkers Accurately Distinguish Hypogonadotropic Hypogonadism From Self-limited Delayed Puberty.","authors":"Sebastián Castro, Lourdes Correa Brito, Patricia Bedecarrás, María Gabriela Ballerini, Gabriela Sansó, Ana Keselman, Hamilton Cassinelli, Andrea Josefina Arcari, Guillermo F Alonso, Yee-Ming Chan, Wen He, María Gabriela Ropelato, Ignacio Bergadá, Fernando Cassorla, Rodolfo A Rey, Romina P Grinspon","doi":"10.1210/clinem/dgaf062","DOIUrl":"10.1210/clinem/dgaf062","url":null,"abstract":"<p><strong>Context: </strong>Delayed puberty is a frequent complaint in males. The differential diagnosis between self-limited delayed puberty (SLDP) and congenital hypogonadotropic hypogonadism (CHH) is challenging. Commonly used endocrine tests, focusing on stimulated levels of LH or testosterone, are not satisfactory in making a diagnosis. Because FSH action on Sertoli cells results in testis enlargement and anti-Müllerian hormone (AMH) and inhibin B increased secretion, and the FSH-Sertoli cell axis function is detectable during normal childhood and early puberty, we tested whether the assessment of serum FSH, AMH, and inhibin B would be informative to distinguish between SLDP and CHH.</p><p><strong>Design: </strong>We performed a prospective, nested case-control study in a cohort of male adolescents presenting with delayed puberty, comparing baseline serum reproductive hormone levels to identify predictive biomarkers of CHH, after having followed all participants prospectively until a final diagnosis was ascertained based on gold-standard criteria (age 18 years or ≥4 years after testis volume reached 4 mL).</p><p><strong>Results: </strong>Of 65 participants who completed follow-up, 33 had a final diagnosis of SLDP and 32 of CHH. Serum FSH, AMH, and inhibin B showed better diagnostic efficiency than LH and testosterone for these differential diagnoses. FSH (IU/L)×inhibin B (ng/mL) < 92 and FSH (IU/L)×AMH (pmol/L) < 537 showed high sensitivity (>93%), specificity (≥92%), predictive values (>92%), and positive likelihood ratio (>12) for CHH. The diagnostic performance remained 89.7% and 88.2% for FSH × inhibin B and FSH × AMH, respectively, when analyzed in patients without red flags (micropenis, cryptorchidism, and/or microorchidism).</p><p><strong>Conclusion: </strong>Serum FSH combined with inhibin B or AMH is highly predictive to accurately distinguish between SLDP and CHH in adolescent males.</p>","PeriodicalId":50238,"journal":{"name":"Journal of Clinical Endocrinology & Metabolism","volume":" ","pages":"e3203-e3214"},"PeriodicalIF":5.1,"publicationDate":"2025-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143392261","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
TP53 Alterations Are Associated With Poor Response to Lenvatinib in Patients With Advanced Thyroid Cancer. 晚期甲状腺癌患者对Lenvatinib不良反应与TP53改变相关
IF 5.1 2区 医学
Journal of Clinical Endocrinology & Metabolism Pub Date : 2025-09-16 DOI: 10.1210/clinem/dgaf056
Valentina Cirello, Carla Colombo, Delfina Tosi, Alessandro Manzo, Maria Orietta Borghi, Umberto Gianelli, Giacomo Gazzano, Stefano Ferrero, Gianlorenzo Dionigi, Luca Persani, Laura Fugazzola
{"title":"TP53 Alterations Are Associated With Poor Response to Lenvatinib in Patients With Advanced Thyroid Cancer.","authors":"Valentina Cirello, Carla Colombo, Delfina Tosi, Alessandro Manzo, Maria Orietta Borghi, Umberto Gianelli, Giacomo Gazzano, Stefano Ferrero, Gianlorenzo Dionigi, Luca Persani, Laura Fugazzola","doi":"10.1210/clinem/dgaf056","DOIUrl":"10.1210/clinem/dgaf056","url":null,"abstract":"<p><strong>Context: </strong>No data are available about the possible association of TP53 mutations and the response to multikinase inhibitors (MKIs) in thyroid cancer (TC).</p><p><strong>Objective: </strong>We evaluated the effect of TP53 mutations on the response to lenvatinib (LEN) in advanced TCs and in vitro models.</p><p><strong>Methods: </strong>We investigated the molecular profile, including TP53 mutations, of 30 tumor tissues from patients treated with LEN, and tested p53 status by immunohistochemistry. These data were compared with clinical-pathological features, and tumor response to LEN. The response to LEN was also evaluated in TP53-defective and TP53-proficient TC cell lines.</p><p><strong>Results: </strong>TP53 mutations significantly correlated with a poor response to LEN (P = .005). TP53-mutated patients had a shorter progression-free survival (PFS) (P < .0001) and overall survival (OS) rates (P = .0007). Accordingly, patients harboring altered nuclear p53 protein expression had shorter PFS and OS (P = .0001 and P = .0056, respectively). These data were confirmed in a validation cohort. In accordance with clinical data, TC cell lines with p53 alterations had low or null sensitivity, while those with TP53 wild-type showed different degrees of sensitivity, primarily due to the increased number of tumor cells in G1 phase, consistent with the cytostatic effect of LEN.</p><p><strong>Conclusion: </strong>We show for the first time in advanced TC that the presence of TP53 alterations is a predictor of poor response to LEN treatment and is associated with worse PFS and OS rates. The evaluation of TP53 mutations/p53 expression might be included in the patient/tumor characterization to be performed before starting an MKI treatment.</p>","PeriodicalId":50238,"journal":{"name":"Journal of Clinical Endocrinology & Metabolism","volume":" ","pages":"e3353-e3365"},"PeriodicalIF":5.1,"publicationDate":"2025-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143076195","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
Prenatal Testosterone Exposure Is Linked to Sexually Dimorphic Changes in Body Composition in 7-Year-Old Children. 产前睾酮暴露与7岁儿童身体组成的两性二态变化有关。
IF 5.1 2区 医学
Journal of Clinical Endocrinology & Metabolism Pub Date : 2025-09-16 DOI: 10.1210/clinem/dgaf085
Camilla Viola Buskbjerg Palm, Anders Grøntved, Dorte Møller Jensen, Freja Pelck Hansen, Jan Stener Jørgensen, Henrik Thybo Christesen, Dorte Glintborg, Marianne Skovsager Andersen
{"title":"Prenatal Testosterone Exposure Is Linked to Sexually Dimorphic Changes in Body Composition in 7-Year-Old Children.","authors":"Camilla Viola Buskbjerg Palm, Anders Grøntved, Dorte Møller Jensen, Freja Pelck Hansen, Jan Stener Jørgensen, Henrik Thybo Christesen, Dorte Glintborg, Marianne Skovsager Andersen","doi":"10.1210/clinem/dgaf085","DOIUrl":"10.1210/clinem/dgaf085","url":null,"abstract":"<p><strong>Context: </strong>Maternal free testosterone (FT) increases during the third trimester and FT is higher in pregnant women with polycystic ovary syndrome (PCOS) compared to women without PCOS. Higher prenatal androgen exposure has previously been associated with increased catch-up growth in boys.</p><p><strong>Objective: </strong>This work aimed to examine associations between maternal third-trimester testosterone and body composition in boys and girls.</p><p><strong>Methods: </strong>This study comprised 1008 mother-child pairs (boys, n = 520) in the Odense Child Cohort (maternal PCOS, n = 101). Maternal FT was calculated from total testosterone (TT) analyzed by mass spectrometry at gestational week 28. Body composition assessments were performed in 7-year-old children by whole-body dual x-ray absorptiometry (DXA, n = 897) measuring body fat (fat mass index [FMI = fat mass(kg)/height(m)2]), percentages of total fat mass, gynoid, and android fat mass) and lean body mass, body weight, body mass index (BMI and BMI z scores), and abdominal circumference. The main outcome was body fat at age 7 years.</p><p><strong>Results: </strong>In boys, a doubling in FT was associated with a 4.2% increase in FMI (P = .04) and an increase in BMI and BMI z score of 0.2 and 0.1 (P = .05 and .04), respectively. In girls, no statistically significant association was observed between maternal FT and body composition.</p><p><strong>Conclusion: </strong>Boys exposed to higher prenatal levels of FT had higher fat mass, whereas no relation was seen in girls, suggesting a sex-specific susceptibility to prenatal testosterone exposure on child body composition.</p>","PeriodicalId":50238,"journal":{"name":"Journal of Clinical Endocrinology & Metabolism","volume":" ","pages":"e3225-e3234"},"PeriodicalIF":5.1,"publicationDate":"2025-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143392267","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
Anti-Androgen and Aromatase Inhibitor Do Not Enhance Height in Children With CAH. 抗雄激素和芳香化酶抑制剂不能提高CAH患儿的身高。
IF 5.1 2区 医学
Journal of Clinical Endocrinology & Metabolism Pub Date : 2025-09-16 DOI: 10.1210/clinem/dgaf135
Phyllis W Speiser
{"title":"Anti-Androgen and Aromatase Inhibitor Do Not Enhance Height in Children With CAH.","authors":"Phyllis W Speiser","doi":"10.1210/clinem/dgaf135","DOIUrl":"10.1210/clinem/dgaf135","url":null,"abstract":"","PeriodicalId":50238,"journal":{"name":"Journal of Clinical Endocrinology & Metabolism","volume":" ","pages":"e3520-e3521"},"PeriodicalIF":5.1,"publicationDate":"2025-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143558680","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
Subacute Thyroiditis-Is it Really Linked to Viral Infection? 亚急性甲状腺炎-它真的与病毒感染有关吗?回顾性医院患者登记研究。
IF 5.1 2区 医学
Journal of Clinical Endocrinology & Metabolism Pub Date : 2025-09-16 DOI: 10.1210/clinem/dgaf023
Hans Martin Orth, Alexander Killer, Smaranda Gliga, Michael Böhm, Torsten Feldt, Björn-Erik O Jensen, Tom Luedde, Rolf Kaiser, Martin Pirkl
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