Congenital adrenal hyperplasia and vanishing testis: rare case of male pseudohermaphroditism

Publish Year: 1395
نوع سند: مقاله ژورنالی
زبان: English
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شناسه ملی سند علمی:

JR_IJRM-14-3_009

تاریخ نمایه سازی: 16 شهریور 1395

Abstract:

Background: Congenital adrenal hyperplasia (CAH) and vanishing testes are uncommon diseases that can result from hormonal and mechanical factors. Classic CAH is determined by ambiguous genitalia and increase in amount of 17-Hydroxyprogesterone. Simultaneous occurrence of CAH and vanishing testes is a rare condition.Case: A 22-year-old boy, known case of CAH who was diagnosed as female pseudohermaphroditism due to ambiguous genitalia, was referred to ShahidSadoughi Hospital, Yazd, Iran with colicky abdominal pain and hematuria. Ultrasonography has been performed and prostate tissue was reported. Karyotypingwas done because of uncertainty in primary diagnosis, which revealed 46XY. Forfinding location of testes, ultrasonography and MRI were done and nothing wasfound in abdomen, inguinal canal or scrotum. Inhibin B serum level was measuredto find out whether testis tissue was present in the body, which was <1 pg/ml and vanishing testis was confirmed.Conclusion: Early diagnosis and treatment are essential to prevent further sequels and karyotyping for all patients with CAH is recommended. Lifelong treatment with synthetic glucocorticoid replacement is necessary

Authors

Azam Ghanei

Department of Internal Medicine, Shahid Sadoughi University of Medical Sciences, Yazd, Iran

Golnaz Mohammadzade

Department of Internal Medicine, Shahid Sadoughi University of Medical Sciences, Yazd, Iran

Ehsan Zarepur

Student Research Committee, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.

sedigheh Soheilikhah

Department of Internal Medicine, Shahid Sadoughi University of Medical Sciences, Yazd, Iran