Molecular diagnosis of CYP21A2 gene in affected cases with congenital adrenal hyperplasia and familial implications for prenatal diagnosis

Gomes, Susana; Silva, Júlia; Pereira-Caetano, Iris; Gonçalves, João

http://hdl.handle.net/10400.18/5943

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Authors

Gomes, Susana

Silva, Júlia

Pereira-Caetano, Iris

Gonçalves, João

Gomes, Susana

Abstract(s)

Congenital Adrenal Hyperplasia (CAH) can be due to one of seven different enzymes involved in the synthesis of cortisol. Deficiency in 21-hydroxylase (21-OHD) is responsible for 90 – 95% of the CAH cases. The clinical symptoms of CAH are directly related with 21-OH activity which is associated with the CYP21A2 genotype. CYP21A2 gene cluster is prone to genetic recombination events leading to a wide variety of complex rearrangements (duplications, deletions, conversions) and point mutations. CAH can be divided in two clinical conditions – the classic form [saltwasting(SW) and simple virilising(SV)] and the non-classic(NC) form of the disease. While SW is usually diagnosed in neonates, SV are mainly detected during the first years of life and, most cases of NC-CAH are usually diagnosed from the 4th year of life until puberty or until adulthood. We present here the molecular results obtained in 265 patients with CAH. The clinical diagnose was established in these patients between the 5th day of life until adulthood (<18 years old). When available, both parents of the affected patients were also analysed after informed consent has been obtained.