Congenital adrenal hyperplasia and vanishing testis: rare case of male pseudohermaphroditism
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...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Shahid Sadoughi University of Medical Science, Yazd, Iran
2016-03-01
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| Series: | Iranian Journal of Reproductive Medicine |
| Online Access: | http://www.ssu.ac.ir/ijrm/index.php/ijrm/article/view/1861/965 |
| _version_ | 1828277167059894272 |
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| author | Azam Ghanei Golnaz Mohammadzade Ehsan Zarepur sedighe soheilikhah |
| author_facet | Azam Ghanei Golnaz Mohammadzade Ehsan Zarepur sedighe soheilikhah |
| author_sort | Azam Ghanei |
| collection | DOAJ |
| description | 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 |
| first_indexed | 2024-04-13T07:10:08Z |
| format | Article |
| id | doaj.art-67862e5b29bb4e44b2945e4646995d2d |
| institution | Directory Open Access Journal |
| issn | 1680-6433 2008-2177 |
| language | English |
| last_indexed | 2024-04-13T07:10:08Z |
| publishDate | 2016-03-01 |
| publisher | Shahid Sadoughi University of Medical Science, Yazd, Iran |
| record_format | Article |
| series | Iranian Journal of Reproductive Medicine |
| spelling | doaj.art-67862e5b29bb4e44b2945e4646995d2d2022-12-22T02:56:54ZengShahid Sadoughi University of Medical Science, Yazd, IranIranian Journal of Reproductive Medicine1680-64332008-21772016-03-01143213216Congenital adrenal hyperplasia and vanishing testis: rare case of male pseudohermaphroditismAzam Ghanei0Golnaz Mohammadzade1Ehsan Zarepur2sedighe soheilikhah3Department of Internal Medicine, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.Department of Internal Medicine, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.Student Research Committee, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.Department of Internal Medicine, Shahid Sadoughi University of Medical Sciences, Yazd, IranBackground: 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 necessaryhttp://www.ssu.ac.ir/ijrm/index.php/ijrm/article/view/1861/965 |
| spellingShingle | Azam Ghanei Golnaz Mohammadzade Ehsan Zarepur sedighe soheilikhah Congenital adrenal hyperplasia and vanishing testis: rare case of male pseudohermaphroditism Iranian Journal of Reproductive Medicine |
| title | Congenital adrenal hyperplasia and vanishing testis: rare case of male pseudohermaphroditism |
| title_full | Congenital adrenal hyperplasia and vanishing testis: rare case of male pseudohermaphroditism |
| title_fullStr | Congenital adrenal hyperplasia and vanishing testis: rare case of male pseudohermaphroditism |
| title_full_unstemmed | Congenital adrenal hyperplasia and vanishing testis: rare case of male pseudohermaphroditism |
| title_short | Congenital adrenal hyperplasia and vanishing testis: rare case of male pseudohermaphroditism |
| title_sort | congenital adrenal hyperplasia and vanishing testis rare case of male pseudohermaphroditism |
| url | http://www.ssu.ac.ir/ijrm/index.php/ijrm/article/view/1861/965 |
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