Genital abnormalities mimicking congenital adrenal hyperplasia in premature infants

Abstract

Unusual genital appearances in premature infants can be easily mistaken for true ambiguous genitalia, with alarming consequences. The results of blood and urine tests carried out for premature infants can be misleading due to persistence of the foetal zone of the adrenal cortex. More importantly, misdiagnosis is devastating for the parents and adds significantly to their distress. Here, we describe two patients with transient genital abnormalities and abnormal biochemical tests.