Presentation
Ambiguous genitalia, hypospadias
Patient Data
The uterus is well-visualized of normal size with normal small ovaries.
Micropenis with clitoral hypertrophy is noted. No testicular structures are seen.
The coronal T2WI of the upper abdomen shows enlarged adrenal glands with preserved shape in keeping with bilateral adrenal hyperplasia.
There is a small a well-defined cystic structure in the midline within the penile bulb of low signal on T1WI, high signal on T2WI which may correspond to a Cowper's duct syringocele.
Case Discussion
Case showing the features of female pseudohermaphroditism due to congenital adrenal hyperplasia (CAH). the karyotype is this case was 46 XX.
The causes of female pseudohermaphroditism include congenital adrenal hyperplasia which is the most common, transplacental androgen exposure, and XX male syndrome.
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