Pubertal development in 46,XY patients with NR5A1 mutations.
Differences of sex development
NR5A1 mutation
Pubertal development
Virilization
Journal
Endocrine
ISSN: 1559-0100
Titre abrégé: Endocrine
Pays: United States
ID NLM: 9434444
Informations de publication
Date de publication:
Feb 2022
Feb 2022
Historique:
received:
18
07
2021
accepted:
15
09
2021
pubmed:
7
10
2021
medline:
24
3
2022
entrez:
6
10
2021
Statut:
ppublish
Résumé
Mutations in the NR5A1 gene, encoding the transcription factor Steroidogenic Factor-1, are associated with a highly variable genital phenotype in patients with 46,XY differences of sex development (DSD). Our objective was to analyse the pubertal development in 46,XY patients with NR5A1 mutations by the evaluation of longitudinal clinical and hormonal data at pubertal age. We retrospectively studied a cohort of 10 46,XY patients with a verified NR5A1 mutation and describe clinical features including the external and internal genitalia, testicular volumes, Tanner stages and serum concentrations of LH, FSH, testosterone, AMH, and inhibin B during pubertal transition. Patients who first presented in early infancy due to ambiguous genitalia showed spontaneous virilization at pubertal age accompanied by a significant testosterone production despite the decreased gonadal volume. Patients with apparently female external genitalia at birth presented later in life at pubertal age either with signs of virilization and/or absence of female puberty. Testosterone levels were highly variable in this group. In all patients, gonadotropins were constantly in the upper reference range or elevated. Neither the extent of virilization at birth nor the presence of Müllerian structures reliably correlated with the degree of virilization during puberty. Patients with NR5A1 mutations regardless of phenotype at birth may demonstrate considerable virilization at puberty. Therefore, it is important to consider sex assignment carefully and avoid irreversible procedures during infancy.
Identifiants
pubmed: 34613524
doi: 10.1007/s12020-021-02883-y
pii: 10.1007/s12020-021-02883-y
pmc: PMC8816419
doi:
Substances chimiques
NR5A1 protein, human
0
Steroidogenic Factor 1
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
601-613Informations de copyright
© 2021. The Author(s).
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