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.
Human ; Female ; Adult ; DISORDERS OF SEX DEVELOPMENT ; ANDROGEN-INSENSITIVITY SYNDROME ; PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS