The earlier described mutation (c.307c > T [p.R103X]) in the SRD5A2 gene causing a 46,XY female phenotype.
J Pediatr Endocrinol Metab
; 25(5-6): 543-5, 2012.
Article
en En
| MEDLINE
| ID: mdl-22876553
ABSTRACT
Deletions and mutations in the 5-alpha-reductase type 2 (SRD5A2) gene have been identified in 46,XY disorders of sexual differentiation (DSD). The clinical spectrum is heterogeneous, varying from a normal female external genital appearance to clitoromegaly and isolated micropenis or microphallus associated with hypospadias of various degrees. We describe a 46,XY DSD patient with a homozygous c.307C>T (p.R103X) mutation in the SRD5A2 gene. The case presented with a normal female external genital phenotype.
Buscar en Google
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
3-Oxo-5-alfa-Esteroide 4-Deshidrogenasa
/
Mutación Missense
/
Disgenesia Gonadal 46 XY
/
Proteínas de la Membrana
Tipo de estudio:
Prognostic_studies
Límite:
Female
/
Humans
/
Infant
/
Male
Idioma:
En
Revista:
J Pediatr Endocrinol Metab
Asunto de la revista:
ENDOCRINOLOGIA
/
PEDIATRIA
Año:
2012
Tipo del documento:
Article
País de afiliación:
Turquía