A case of 5 alpha reductase deficiency / 대한산부인과학회지
Korean Journal of Obstetrics and Gynecology
;
: 550-554, 2007.
Artículo
en Coreano
| WPRIM
| ID: wpr-71610
ABSTRACT
5 alpha-reductase deficiency is a rare autosomal recessive disorder caused by mutations in the SRD5A2-gene, resulting in absent or diminished dihydrotestosterone (DHT) formation and, hence, in an underdevelopment of the external genitalia in patients with 46,XY karyotype. Recently we experienced a 17 years old patient with chief complaint of primary amenorrhea, who showed 46,XY karyotype, enlarged clitoris, virilization, undeveloped breast and palpable bilateral inguinal mass. We diagnosed it as 5 alpha?reductase deficiency and removed the bilateral gonads, so we report it with brief review of literature.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Dihidrotestosterona
/
Virilismo
/
Mama
/
Clítoris
/
Colestenona 5 alfa-Reductasa
/
Trastorno del Desarrollo Sexual 46,XY
/
Cariotipo
/
Amenorrea
/
Genitales
/
Gónadas
Límite:
Adolescente
/
Femenino
/
Humanos
Idioma:
Coreano
Revista:
Korean Journal of Obstetrics and Gynecology
Año:
2007
Tipo del documento:
Artículo
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