A case of 5 alpha reductase deficiency / 대한산부인과학회지
Korean Journal of Obstetrics and Gynecology
;
: 550-554, 2007.
Article
in Korean
| 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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Dihydrotestosterone
/
Virilism
/
Breast
/
Clitoris
/
Cholestenone 5 alpha-Reductase
/
Disorder of Sex Development, 46,XY
/
Karyotype
/
Amenorrhea
/
Genitalia
/
Gonads
Limits:
Adolescent
/
Female
/
Humans
Language:
Korean
Journal:
Korean Journal of Obstetrics and Gynecology
Year:
2007
Type:
Article
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