Birth of a healthy boy following preimplantation genetic diagnosis for congenital adrenal hyperplasia

Abstract

Classical 3β-HSD deficiency due to mutations in the HSD3B2 gene is responsible for a rare form of congenital adrenal hyperplasia (CAH) and is identified by varying degrees of salt wasting. Preimplantation genetic diagnosis (PGD) was performed in a couple carrying mutation c.690 G>A in the HSD3B2 gene. Four polymorphic short tan-dem repeat markers closely linked to the HSD3B2 gene (D1S185, D1S453, D1S514, D1S540) for linkage analysis in conjunction with the direct mutation analysis were used in embryo genotyping. Two CODIS STRs (VWA and THO1) were also used to confirm embryo zygosity and rule out possible contaminations. Finally, SRY and AMYLOGEN-IN markers were used for embryo sex determination. PGD was performed by fluorescent multiplex seminested poly-merase chain reaction and sequencing. Six embryos were tested and one male carrier embryo was transferred, re-sulting in the birth of a healthy boy.