Abstract
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.
Publication details
- DOI
- 10.18295/squmj.2016.17.02.014
- Journal
- Sultan Qaboos University Medical Journal, 17(2), 218-220
- Publisher
- Sultan Qaboos University
- Open access
- Gold open access
- License
- CC BY-ND 4.0
Cite this article
APA 7
Hummadi, A. R. A., Yahya, A. O., & M., A. (2025). Late Diagnosis of 5-α-Reductase Type 2 Deficiency in an Adolescent Girl with Primary Amenorrhoea: Case report. Sultan Qaboos University Medical Journal, 17(2), 218-220. https://doi.org/10.18295/squmj.2016.17.02.014
MLA 9
Hummadi, Abdul-Rahman A., 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, 2025, pp. 218-220. https://doi.org/10.18295/squmj.2016.17.02.014.
Chicago (author–date)
Hummadi, Abdul-Rahman A., Ayel O. Yahya, and Awad M. 2025. "Late Diagnosis of 5-α-Reductase Type 2 Deficiency in an Adolescent Girl with Primary Amenorrhoea: Case report." Sultan Qaboos University Medical Journal 17 (2): 218-220. https://doi.org/10.18295/squmj.2016.17.02.014.
Harvard
Hummadi, A. R. A., Yahya, A. O. and M., A. (2025) 'Late Diagnosis of 5-α-Reductase Type 2 Deficiency in an Adolescent Girl with Primary Amenorrhoea: Case report', Sultan Qaboos University Medical Journal, 17(2), pp. 218-220. doi:10.18295/squmj.2016.17.02.014.
Vancouver
Hummadi ARA, Yahya AO, M. A. Late Diagnosis of 5-α-Reductase Type 2 Deficiency in an Adolescent Girl with Primary Amenorrhoea: Case report. Sultan Qaboos University Medical Journal. 2025;17(2):218-220. doi:10.18295/squmj.2016.17.02.014
IEEE
A. R. A. Hummadi, A. O. Yahya, and A. M., "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, 2025, doi: 10.18295/squmj.2016.17.02.014.