Published Paper Details:

BACKGROUND 46,XX DSD Aromatase deficiency (AroD) is a congenital atypical development of chromosomal, gonadal or anatomic sex. Definitive diagnosis AroD established by CYP19A1 mutation analysis, however the diagnosis is challenging due to the lack of a resource-restricted setting. OBJECTIVE To establish the diagnosis of AroD and its management in resource-restricted setting. CASE A 12-years old reared as a boy, presenting with ambiguous genitalia, a small size of penis and almost complete labioscrotal fusion with a single perineal opening consist of Prader stage III genitalia. He underwent Urologic USG, abdominal laparoscopic and karyotyping, revealed no sign of both testis on inguinal nor scrotum, normal size of ovary, fallopian tube and uterus, and chromosome analysis 46,XX. Congenital adrenal hyperplasia(CAH) was excluded by sign virilized female, no hypertension, normal electrolyte serum dan 17OH-P. Disorder of ovarian development was excluded by sign normal Mullerian structure and inadequate response hCG test. Before pregnacy the mother had hormonal therapy for 3 months and suffered from severe acne during pregnancy. The combination of maternal virilization, in-utero virilization and features of estrogen deficiency strongly suggested Aromatase Deficiency. Gender assingment was conducted by an interdisciplinary team work, the parent decided to reassignment gender to female. Hormone replacement therapy was administered followed by feminization surgery. CONCLUSION In resource-restricted setting, the diagnosis of AroD was established by excluded the others causa of 46,XX DSD and its management consist of gender assignment, hormone replacement therapy and reconstruction surgery.