Clinical сase of disorder of sex development with karyotype 47XYY

Abstract

Disorder of sex development (DSD) is a term used to refer to congenital disorders that led to atypical structure of the genitals. The cause of DSD is a disorder of the embryonic development of the reproductive system due to chromosomal, genetic pathology or other adverse effects on pregnancy. DSD entails difficulties with social adaptation of the family, leads to severe psychological disorders in the child and his relatives. Sex of a child with DSD should be established only after a full examination and consultation of specialists in this field. A clinical case is presented to illustrate the complexity of differential diagnosis and choice of passport sex in a child with one of the rare forms of DSD.

Keywords

• disorder of sex development
• gonadal dysgenesis
• sex chromosomes mosaicism