Atypical genitalia in neonates

Newborn screening

Serum 17 hydroxyprogesterone (17-OHP) is included in the newborn screening panel in the US but is not available in many other countries. A markedly elevated 17-OHP level in a neonate with atypical genitalia and impalpable gonads confirms congenital adrenal hyperplasia due to 21 hydroxylase deficiency. 17-OHP levels may also be normally elevated in preterm babies, so clinicians should familiarise themselves with local 17-OHP screening cut-off levels.