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

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

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 ge...

Full description

Bibliographic Details
Main Authors: Maleki, Nasrollah, Kalantar Hormozi, Mohammadreza, Iranparvar Alamdari, Manouchehr, Tavosi, Zahra
Format: Online
Language:English
Published: Hindawi Publishing Corporation 2013
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3870623/
id pubmed-3870623
recordtype oai_dc
spelling pubmed-38706232014-01-01 5-Alpha-Reductase 2 Deficiency in a Woman with Primary Amenorrhea Maleki, Nasrollah Kalantar Hormozi, Mohammadreza Iranparvar Alamdari, Manouchehr Tavosi, Zahra Case Report 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. Hindawi Publishing Corporation 2013 2013-12-07 /pmc/articles/PMC3870623/ /pubmed/24383016 http://dx.doi.org/10.1155/2013/631060 Text en Copyright © 2013 Nasrollah Maleki et al. https://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
repository_type Open Access Journal
institution_category Foreign Institution
institution US National Center for Biotechnology Information
building NCBI PubMed
collection Online Access
language English
format Online
author Maleki, Nasrollah
Kalantar Hormozi, Mohammadreza
Iranparvar Alamdari, Manouchehr
Tavosi, Zahra
spellingShingle Maleki, Nasrollah
Kalantar Hormozi, Mohammadreza
Iranparvar Alamdari, Manouchehr
Tavosi, Zahra
5-Alpha-Reductase 2 Deficiency in a Woman with Primary Amenorrhea
author_facet Maleki, Nasrollah
Kalantar Hormozi, Mohammadreza
Iranparvar Alamdari, Manouchehr
Tavosi, Zahra
author_sort Maleki, Nasrollah
title 5-Alpha-Reductase 2 Deficiency in a Woman with Primary Amenorrhea
title_short 5-Alpha-Reductase 2 Deficiency in a Woman with Primary Amenorrhea
title_full 5-Alpha-Reductase 2 Deficiency in a Woman with Primary Amenorrhea
title_fullStr 5-Alpha-Reductase 2 Deficiency in a Woman with Primary Amenorrhea
title_full_unstemmed 5-Alpha-Reductase 2 Deficiency in a Woman with Primary Amenorrhea
title_sort 5-alpha-reductase 2 deficiency in a woman with primary amenorrhea
description 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.
publisher Hindawi Publishing Corporation
publishDate 2013
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3870623/
_version_ 1612040722083479552

Similar Items