title

کمبود 5 آلفا ردوکتاز 2 در یک خانم با آمنوره اولیه

ملکی, نصراله and کلانتر هرمزی, محمدرضا and ایرانپرور, منوچهر and طاووسی, زهرا (1392) کمبود 5 آلفا ردوکتاز 2 در یک خانم با آمنوره اولیه. Case Reports in Endocrinology ــ 2013 (2013). pp. 1-4. شاپا 2090-6501

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Title

5-alpha-reductase 2 deficiency in a woman with primary amenorrhea

English 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 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 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 oestrogen 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
زبان سند : انگلیسی
نویسنده مسئول :نصراله ملکی
نویسنده :محمدرضا کلانتر هرمزی
نویسنده :منوچهر ایرانپرور
نویسنده :زهرا طاووسی
Additional Information:Abstracting and Indexing: PubMed , PubMed Central , Academic Search Alumni Edition , Academic Search Complete , Cases Database , CNKI Scholar , Directory of Open Access Journals (DOAJ) , EBSCOhost Connection , EMBASE , Google Scholar , HINARI Access to Research in Health Programme , Professional ProQuest Central , ProQuest Central ProQuest Health and Medical Complete ,
کلیدواژه ها (انگلیسی):Disorder of sex development (DSD), 5α-reductase deficiency, primary amenorrhea
Subjects:WK Endocrine System
WP Gynecology
Divisions:Faculty of Medicine > Department of Internal Medicine , Cardiology , Infectious
ID Code:5165
Deposited By: Dr Nasrollah Maleki
Deposited On:15 Oct 1392 08:49
Last Modified:10 Nov 1397 10:25

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