5-Alpha-Reductase 2 Deficiency in a Woman with Primary Amenorrhea

Maleki, Nasrollah and Kalantar Hormozi, Mohammadreza and Iranparvar Alamdari, Manouchehr and Tavosi, Zahra (2013) 5-Alpha-Reductase 2 Deficiency in a Woman with Primary Amenorrhea. Hindawi Publishing Corporation.


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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.

Item Type: Article
Additional Information: indexer:samaneh vafadar
Subjects: R Medicine > R Medicine (General)
Divisions: Faculty of Medicin
Depositing User: Unnamed user with username karvarz1
Date Deposited: 19 Dec 2015 18:38
Last Modified: 19 Dec 2015 18:38
URI: http://eprints.bpums.ac.ir/id/eprint/4231

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