Genetic causes of sex differentiation abnormalities in males with normal testosterone level: role of androgen receptors

• Main Authors: R. E. Kazakov, R. V. Rozhivanov, E. V. Shikh
• Format: Article
• Language: Russian
• Published: ABV-press 2019-04-01
• Series: Andrologiâ i Genitalʹnaâ Hirurgiâ
• Subjects: feminization; hypogonadism; testosterone; sex differentiation; androgens; genetic polymorphism; cag-repeats; morris syndrome; reifenstein syndrome; bulbospinal amyotrophy; kennedy disease
• Online Access: https://agx.abvpress.ru/jour/article/view/331

The study objective is to present current data on various genetic reasons of feminization.Results. Disruption of puberty in males can be associated with genetically determined defects of androgen receptor which cause partial or full insensitivity to the action of these hormones. The article presents a detailed description of the structure and function of these receptors. Additionally, polymorphism of the androgen receptors» gene is described: it consists of different number of CAG-repeats, and elongation of this locus causes hypogonadism.Conclusion. Pathology of androgen receptors can cause insufficient clinical effectiveness of testosterone drugs, therefore treatment of male hypogonadism requires evaluation of androgen receptor sensitivity prior to drug prescription and during evaluation of treatment results.