Should 21-hydroxylase deficiency genotyping be considered in assisted reproductive technology programs?

Objective: To describe and discuss our experience of patients with congenital adrenal hyperplasia (CAH) conceived via assisted reproduction techniques (ART).

Design: Case reports.

Setting: Tertiary hospitals and a CAH molecular diagnosis reference laboratory belonging to one of these.

[Prevalence of frequent recessive diseases in the Spanish population through DNA analyses on samples from the neonatal screening].

Background And Objective: Cystic fibrosis (CF) and the nonclassical forms of congenital adrenal hyperplasia (NC21OHD) are frequent autosomal recessive diseases. Their frequencies in the Caucasian population are the ones applied to the management of the diseases (1:2500 and 1:1000, respectively). The aim of this study was to learn about the adequacy of these figures to the Spanish population.