title: 5-alpha-reductase 2 deficiency in a woman with primary amenorrhea.
abstract: Steroid 5-alpha-reductase 2 deficiency is a rare disorder leading to male pseudohermaphroditism, a condition characterized by incomplete differentiation of male genitalia in 46,XY patients. Here, we report a case of a 21-year-old woman from Ardabil who presented with primary amenorrhea, ambiguous genitalia, and lack of breast development. All of the serum hormone profiles were normal except for raised serum total testosterone. Testosterone to DHT ratio (T/DHT) was elevated before (15.72) and further increased after hCG stimulation (32.46). A chromosomal study revealed a 46,XY karyotype. A bilateral gonadectomy, recessive cliteroplasty, urethroplasty, and vaginoplasty were performed and hormonal replacement therapy using estrogen was started. In conclusion, the diagnosis of 5-alpha-reductase 2 deficiency may be suspected in infants with ambiguous genitalia or in adolescents or young adults with the characteristic phenotype and serum hormone profiles.
authors.affiliation: Department of Internal Medicine, Imam Khomeini Hospital, Ardabil University of Medical Sciences, Ardabil, Iran.
authors.forename: Nasrollah
authors.initials: N
authors.lastname: Maleki
authors.affiliation: The Persian Gulf Marine Medicine Biotechnology Research Center, Department of Endocrinology, Bushehr University of Medical Sciences, Bushehr, Iran.
authors.forename: Mohammadreza
authors.initials: M
authors.lastname: Kalantar Hormozi
authors.affiliation: Department of Internal Medicine, Imam Khomeini Hospital, Ardabil University of Medical Sciences, Ardabil, Iran.
authors.forename: Manouchehr
authors.initials: M
authors.lastname: Iranparvar Alamdari
authors.affiliation: Department of Internal Medicine, Shohadaye Khalije Fars Hospital, Bushehr University of Medical Sciences, Bushehr, Iran.
authors.forename: Zahra
authors.initials: Z
authors.lastname: Tavosi