A Follow-Up from Infancy to Puberty in a Japanese Male with SRY-Negative 46,XX Testicular Disorder of Sex Development Carrying a p.Arg92Trp Mutation in NR5A1.
Hypergonadotropic hypogonadism
NR5A1
Testicular disorder of sexual development
Testosterone supplementation
Journal
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation
ISSN: 1661-5433
Titre abrégé: Sex Dev
Pays: Switzerland
ID NLM: 101316472
Informations de publication
Date de publication:
2019
2019
Historique:
accepted:
29
10
2018
pubmed:
11
2
2019
medline:
18
4
2020
entrez:
11
2
2019
Statut:
ppublish
Résumé
SRY-negative 46,XX testicular disorders of sex development (DSD) are very rare conditions. Recently, we identified a novel heterozygous NR5A1 mutation, p.Arg92Trp (c.274C>T, p.R92W), in 2 unrelated cases of 46,XX testicular/ovotesticular DSD. We report the clinical course from infancy to puberty in a Japanese male with SRY-negative 46,XX testicular DSD, carrying this p.Arg92Trp mutation in NR5A1. The patient naturally acquired the development of a penis and pubic hair during puberty. However, hypergonadotropic hypogonadism subsequently developed. More clinical cases will be needed to fully understand the effects of the p.Arg92Trp mutation on the ability to maintain testosterone secretion in 46,XX testicular DSD.
Identifiants
pubmed: 30739115
pii: 000496777
doi: 10.1159/000496777
doi:
Substances chimiques
NR5A1 protein, human
0
SRY protein, human
0
Sex-Determining Region Y Protein
0
Steroidogenic Factor 1
0
Testosterone
3XMK78S47O
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
60-66Informations de copyright
© 2019 S. Karger AG, Basel.