A virilised female infant with congenital adrenal hyperplasia: could this have been prevented?

Congenital adrenal hyperplasia (CAH) is caused by a defect in adrenal steroid biosynthesis, causing reduced glucocorticoid production and increased androgen production. This report presents the case of a severely virilised newborn female infant with presumed classic salt-wasting CAH. The role of family education, genetic screening, prenatal diagnosis and the dilemmas of therapeutic options are discussed.

Michael Yafi, Amanda Shaw, Nunilo Rubio Jr, D Rodriguez-Buritica, Jose Garcia