hrp0084p2-198 | Adrenals | ESPE2015

Incidence of Nonclassical 21-Hydroxylase Deficiency in Russian Population as Estimated by the Carrier Frequency of V281l Mutation

Anosova Tatiana , Tiulpakov Anatoly

Background: Nonclassical 21-hydroxylase deficiency (NC21OHD) is one of the most common monogenic diseases. Its frequency varies significantly among different ethnic groups. In Russians the frequency of NC21OHD is unknown.Objective and hypotheses: To estimate the incidence of NC21OHD in Russia based on the carrier frequencies of the two most common mutations associated with this disease (V281L and P30L).Method: A total of 998 random...