تقرير
تشخيص متأخر للنوع الثاني من مرض نقص إنزيم 5-α-ريدوكتاس، لفتاة مراهقة مصابة بانقطاع الطمث الأولي تقرير حالة = Late Diagnosis of 5-α-Reductase Type 2 Deficiency in an Adolescent Girl with Primary Amenorrhoea Case report

Hummadi, Abdul Rahman A.


 

تشخيص متأخر للنوع الثاني من مرض نقص إنزيم 5-α-ريدوكتاس، لفتاة مراهقة مصابة بانقطاع الطمث الأولي تقرير حالة = Late Diagnosis of 5-α-Reductase Type 2 Deficiency in an Adolescent Girl with Primary Amenorrhoea Case report

Hummadi, Abdul Rahman A.

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.

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 ...

مادة فرعية

المؤلف : Hummadi, Abdul Rahman A.

مؤلف مشارك : Ayel O. Yahya
Al Qahtani, Awad Mohamed

بيانات النشر : Muscat، Sultanate of Oman : Sultan Qaboos University / College of Medicine and Health Sciences، 2017مـ.

التصنيف الموضوعي : العلوم التطبيقية|العلوم الطبية .

المواضيع : Disorders of Sex Development .

اضطرابات النمو الجنسية .

Primary Amenorrhoea .

انقطاع الطمث الأولي .

رقم الطبعة : 2

المصدر : Sultan Qaboos University / College of Medicine and Health Sciences : Muscat، Sulatante of Oman.

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