Clitoromegaly: A Case Report and Literature Review

Background: Clitoromegaly is an abnormally large clitoris. The clitoris develops from the genital tubercle in the female and forms the penis in the male. It could be congenital or acquired. When seen in newborns, it’s likely cause is Congenital Adrenal Hyperplasia (CAH) and this condition is secondary to enzyme deficiency -21 hydroxylase deficiency or 11Beta hydroxylase deficiency. Patients with clitoromegaly are usually associated with infertility, because of the high circulating androgens.

Aim: To highlight the presence of clitoromegaly in a pregnant woman, with no history of difficulty in achieving pregnancy.

Case Presentation: The case report was that of a 37 years old Gravida 4, Para 1+2 who was admitted for cervical cerclage insertion due to previous recurrent mid-trimester miscarriages. Clitoromegaly was observed in theatre as an incidental finding.

Results: Investigation results were karyotype 46XX, Normal Uterus, fallopian tubes and ovaries. The cervix was short with funnelling of the Internal Cervical OS. Cortisol level was low and Testosterone level was minimally high. ACTH stimulation test noted adrenal hyperplasia. 21 hydroxylase deficiency was Non-Classical CAH. This is a mild form of Congenital Adrenal Hyperplasia. Patients usually may or may not present with symptoms.

Conclusion: This is a case presentation of a patient with clitoromegaly, with investigation results showing a mild form of adrenal hyperplasia. Infertility was not a problem, as patients had conceived four times. The small penis-like structure of her clitoris was also not a problem for her.