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

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 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.

Etiological Classification of Patients with Ambiguous Genitalia: A Cross-Sectional Study

“…4 The most common cause of ambiguous genitalia is congenital adrenal hyperplasia (CAH). 5,6 The etiologies of DSD are categorized into three groups: 46,XX DSD, 46,XY DSD and ovotesticular DSD. 7 There is a wide spectrum of conditions in 46, XY DSD such as genetic variations, altered hormonal secretion, and peripheral sensitivity to testicular hormones, which adversely affect the development of the male fetus, resulting in varying degrees of under-virilization.…”