5-Alpha-Reductase 2 Deficiency in a Woman with Primary Amenorrhea
Joint Authors
Tavosi, Zahra
Iranparvar Alamdari, Manouchehr
Maleki, Nasrollah
Kalantar Hormozi, Mohammadreza
Source
Issue
Vol. 2013, Issue 2013 (31 Dec. 2013), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2013-12-07
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Maleki, Nasrollah& Kalantar Hormozi, Mohammadreza& Iranparvar Alamdari, Manouchehr& Tavosi, Zahra. 2013. 5-Alpha-Reductase 2 Deficiency in a Woman with Primary Amenorrhea. Case Reports in Endocrinology،Vol. 2013, no. 2013, pp.1-4.
https://search.emarefa.net/detail/BIM-486622
Modern Language Association (MLA)
Maleki, Nasrollah…[et al.]. 5-Alpha-Reductase 2 Deficiency in a Woman with Primary Amenorrhea. Case Reports in Endocrinology No. 2013 (2013), pp.1-4.
https://search.emarefa.net/detail/BIM-486622
American Medical Association (AMA)
Maleki, Nasrollah& Kalantar Hormozi, Mohammadreza& Iranparvar Alamdari, Manouchehr& Tavosi, Zahra. 5-Alpha-Reductase 2 Deficiency in a Woman with Primary Amenorrhea. Case Reports in Endocrinology. 2013. Vol. 2013, no. 2013, pp.1-4.
https://search.emarefa.net/detail/BIM-486622
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-486622