Late Diagnosis of 5-α-Reductase Type 2 Defciency in an Adolescent Girl with Primary Amenorrhoea Case report
Journal Title: Sultan Qaboos University Medical Journal - Year 2017, Vol 17, Issue 2
Abstract
Defciency 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 defciency, 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.
Authors and Affiliations
Abdul-Rahman A. Hummadi| Department of Endocrinology & Internal Medicine, King Fahad Central Hospital, Jizan, Saudi Arabia, Ayel O. Yahya| Department of Endocrinology & Internal Medicine, King Fahad Central Hospital, Jizan, Saudi Arabia, Awad M. Al-Qahtani| Department of Family & Community Medicine, College of Medicine, Najran University, Najran, Saudi Arabia
Keywords
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- EP ID EP14776
- DOI 10.18295/squmj.2016.17.02.014
- Views 330
- Downloads 20
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