Late diagnosis of 5-α-Reductase type 2 deficiency in an adolescent girl with primary amenorrhoea : case report
Other Title(s)
تشخيص متأخر للنوع الثاني من مرض نقص إنزيم ريدوكتاس-α-، لفتاة مراهقة مصابة بانقطاع الطمث الأولي : تقرير حالة
Joint Authors
Hammadi, Abd al-Rahman Ahmad
Yahya, Ayil Umar
al-Qahtani, Awad Muhammad
Source
Sultan Qaboos University Medical Journal
Issue
Vol. 17, Issue 2 (30 May. 2017), pp.218-220, 3 p.
Publisher
Sultan Qaboos University College of Medicine and Health Sciences
Publication Date
2017-05-30
Country of Publication
Oman
No. of Pages
3
Main Subjects
Topics
Abstract EN
Deficiency of the 5-α-reductase enzyme has been found to affect male sexual development.
We report an 18-year-old patient who was referred to an endocrinology clinic in Jizan, Saudi Arabia, in April 2014 with primary amenorrhoea, virilisation and a lack of secondary sex characteristics.
As female external genitalia were present at birth, she had been raised as a female.
Magnetic resonance imaging revealed no uterine or ovarian tissue in the pelvis and the presence of a scrotal sac.
She was diagnosed with 5-α-reductase type 2 deficiency, a 46,XY disorder of sexual development.
Typically, affected males have pseudovaginal perineoscrotal hypospadias and ambiguous genitalia at birth.
Individuals who have been raised as female manifest characteristics of virilisation at puberty, including deepening of the vocal tone, phallus enlargement, scrotal hyperpigmentation and increased muscle mass.
American Psychological Association (APA)
Hammadi, Abd al-Rahman Ahmad& Yahya, Ayil Umar& al-Qahtani, Awad Muhammad. 2017. Late diagnosis of 5-α-Reductase type 2 deficiency in an adolescent girl with primary amenorrhoea : case report. Sultan Qaboos University Medical Journal،Vol. 17, no. 2, pp.218-220.
https://search.emarefa.net/detail/BIM-791819
Modern Language Association (MLA)
Hammadi, Abd al-Rahman Ahmad…[et al.]. Late diagnosis of 5-α-Reductase type 2 deficiency in an adolescent girl with primary amenorrhoea : case report. Sultan Qaboos University Medical Journal Vol. 17, no. 2 (May. 2017), pp.218-220.
https://search.emarefa.net/detail/BIM-791819
American Medical Association (AMA)
Hammadi, Abd al-Rahman Ahmad& Yahya, Ayil Umar& al-Qahtani, Awad Muhammad. Late diagnosis of 5-α-Reductase type 2 deficiency in an adolescent girl with primary amenorrhoea : case report. Sultan Qaboos University Medical Journal. 2017. Vol. 17, no. 2, pp.218-220.
https://search.emarefa.net/detail/BIM-791819
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 220
Record ID
BIM-791819