Gonadotropin Suppression During Mini‐Puberty as an Early Biomarker of Classic 21‐Hydroxylase Deficiency
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Le résumé fourni par la source
ABSTRACT Introduction Newborn screening (NBS) for congenital adrenal hyperplasia caused by 21‐hydroxylase deficiency (21OHD) relies on elevated 17‐hydroxyprogesterone (17OHP) levels but is limited by a high false‐positive rate and difficulty in distinguishing classic from non‐classic forms. To evaluate whether the suppression of serum luteinizing hormone (LH) and follicle‐stimulating hormone (FSH) during mini‐puberty can serve as an early biomarker of classic 21OHD. Methods We conducted a retrospective cohort study of 37 infants evaluated for suspected 21OHD between 2013 and 2025. Subjects were classified as classic (C), non‐classic (NC), or false‐positive (FP) based on biochemical and genetic confirmation. Neonatal serum LH and FSH levels were compared among groups, and receiver operating characteristic (ROC) analyses were performed. Results LH and FSH levels were significantly suppressed in classic 21OHD compared with NC and FP cases ( p < 0.001). Gonadotropin concentrations demonstrated a stepwise pattern (C Conclusions Suppressed LH and FSH levels during the neonatal period reflect the attenuation of mini‐puberty and represent a characteristic endocrine feature of classic 21OHD. Gonadotropin measurement may provide a clinically accessible adjunct to NBS for the early identification of severe disease, particularly in male neonates and in the evaluation of 46,XX disorders/differences in sex development.
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Le contrôle bibliographique ouvert
DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.
- Titre Crossref
- Gonadotropin Suppression During Mini‐Puberty as an Early Biomarker of Classic 21‐Hydroxylase Deficiency
- Date Crossref
- 01/09/2026
- Éditeur
- Wiley
- Type
- journal-article
Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude, et il ne compte pas comme une seconde source scientifique indépendante.
Où se fait cette recherche
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Chiba Kaihin Municipal Hospital pays non établi dans la noticeÉtablissement de santé
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Life Science Institute pays non établi dans la noticeStructure de recherche
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National Center For Child Health and Development pays non établi dans la noticeOrganisme public
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Department of Pediatrics and Developmental Biology Institute of Science Tokyo Tokyo Japan pays non établi dans la noticeStructure de recherche
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Department of Life Science and Bioethics Institute of Science Tokyo Tokyo Japan pays non établi dans la noticeStructure de recherche
Chiba Kaihin Municipal Hospital, Life Science Institute et National Center For Child Health and Development, avec 2 autres affiliations.
Une affiliation ne permet pas de déduire la nationalité d’un auteur.