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Volume 14, Issue 3 (3-2016)
IJRM 2016, 14(3): 213-216 |
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Ghanei A, Mohammadzade G, Zarepur E, Soheilikhah S. Congenital adrenal hyperplasia and vanishing testis: rare case of male pseudohermaphroditism. IJRM 2016; 14 (3) :213-216
URL: http://ijrm.ir/article-1-729-en.html
URL: http://ijrm.ir/article-1-729-en.html
1- Department of Internal Medicine, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
2- Department of Internal Medicine, Shahid Sadoughi University of Medical Sciences, Yazd, Iran , g.mohammadzade@gmail.com
3- Student Research Committee, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
2- Department of Internal Medicine, Shahid Sadoughi University of Medical Sciences, Yazd, Iran , g.mohammadzade@gmail.com
3- Student Research Committee, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
Abstract: (2580 Views)
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 Shahid Sadoughi Hospital, Yazd, Iran with colicky abdominal pain and hematuria. Ultrasonography has been performed and prostate tissue was reported. Karyotyping was done because of uncertainty in primary diagnosis, which revealed 46XY. For finding location of testes, ultrasonography and MRI were done and nothing was found in abdomen, inguinal canal or scrotum. Inhibin B serum level was measured to 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.
Case: A 22-year-old boy, known case of CAH who was diagnosed as female pseudohermaphroditism due to ambiguous genitalia, was referred to Shahid Sadoughi Hospital, Yazd, Iran with colicky abdominal pain and hematuria. Ultrasonography has been performed and prostate tissue was reported. Karyotyping was done because of uncertainty in primary diagnosis, which revealed 46XY. For finding location of testes, ultrasonography and MRI were done and nothing was found in abdomen, inguinal canal or scrotum. Inhibin B serum level was measured to 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.
Type of Study: Original Article |
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