Prenatal diagnosis of congenital adrenal hyperplasia owing to 21-hydroxylase deficiency

Abstract

A non-invasive prenatal diagnostic method has been developed for congenital adrenal hyperplasia (CAH) owing to 21-hydroxylase deficiency. Excess fetal androgen production causes genital virilization in female fetuses affected with classical forms of CAH. In order to prevent genital ambiguity, prenatal dexamethasone treatment must be administered before the 9th week of gestation when genital organogenesis occurs. Invasive prenatal diagnostic methods do not yield a genetic diagnosis until after genital organogenesis begins. This new methodology could allow for the targeted treatment of affected female fetuses and avoid unnecessary prenatal treatment of males or unaffected females.

Keywords:

• 21-hydroxylase congenital adrenal hyperplasia
• congenital adrenal hyperplasia
• dexamethasone treatment
• prenatal diagnosis

Declaration of interest

The authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending or royalties.