Microcephaly with ambiguous genitalia

Abstract

Ambiguous external genitalia could cause parental emotional trauma especially in an African setting where early gender assignment is an integral part of our culture. The most common cause of ambiguous external genital in Nigeria is 21-hydroxylase deficiency and depending on the severity of the enzyme deficiency, it may present with an isolated ambiguous external genital while in severe cases it may manifest with electrolyte deficiency and hypoglycemia; however its association with microcephaly is a rare phenomenon. Therefore, the case an 8-month old child whose parents had lost two other children to similar disorder is reported.

Keywords

• 21-hydroxylase deficiency
• congenital adrenal hyperplasia
• microcephaly