A case of 5 alpha reductase deficiency / 대한산부인과학회지
Korean Journal of Obstetrics and Gynecology
;
: 550-554, 2007.
Artigo
em 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:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Di-Hidrotestosterona
/
Virilismo
/
Mama
/
Clitóris
/
Colestenona 5 alfa-Redutase
/
Transtorno 46,XY do Desenvolvimento Sexual
/
Cariótipo
/
Amenorreia
/
Genitália
/
Gônadas
Limite:
Adolescente
/
Feminino
/
Humanos
Idioma:
Coreano
Revista:
Korean Journal of Obstetrics and Gynecology
Ano de publicação:
2007
Tipo de documento:
Artigo
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