46 XY disorder of sexual development: a rare case of partial androgen insensitivity vs 5 alpha reductase deficiency
- Author:
Sandoval Janmarie Fabilante
;
Koa-Malaya Rena Cristina
- Publication Type:Journal Article
- MeSH:
Human;
Female;
Adult;
DISORDERS OF SEX DEVELOPMENT;
ANDROGEN-INSENSITIVITY SYNDROME;
PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS
- From:
Philippine Journal of Reproductive Endocrinology and Infertility
2012;9(1):46-54
- CountryPhilippines
- Language:English
-
Abstract:
Disorders of sex development (DSD) is the newly proposed nomenclature to indicate congenital conditions with atypical development of chromosomal, gonadal, or anatomic sex. This is a case of a 29 year old 46 XY with primary amenorrhea, male stature, absent breasts, absent uterus, clitoromegaly, blind ending vagina, elevated FSH and LH and male testosterone level. Differential diagnosis is discussed and a diagnosis of Partial Androgen Insensitivity Syndrome and 5 alpha reductase deficiency are hypothesized. The patient underwent surgical and hormonal management to fulfill her female gender identity.
