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.
Sex Dev
; 13(2): 60-66, 2019.
Article
en En
| MEDLINE
| ID: mdl-30739115
ABSTRACT
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.
Palabras clave
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Testículo
/
Pubertad
/
Proteína de la Región Y Determinante del Sexo
/
Factor Esteroidogénico 1
/
Trastornos del Desarrollo Sexual 46, XX
/
Mutación
Tipo de estudio:
Observational_studies
/
Prognostic_studies
Límite:
Adolescent
/
Child
/
Child, preschool
/
Humans
/
Infant
/
Male
Idioma:
En
Revista:
Sex Dev
Asunto de la revista:
CIENCIAS DO COMPORTAMENTO
Año:
2019
Tipo del documento:
Article