Disorders of sexual differentiation. A clinical case

Abstract

The biological sex of a person is anatomical, physiological, and genetic features that help distinguish a male organism from a female one. One distinguishes genetic, gonadal, and phenotypic sex of a person. Sexual differentiation is a process of development, during which the biological male or female sex is formed, it occurs under the influence of genetic and hormonal factors during fetal development. In this regard, any damage at this stage can lead to disorder of sexual development of a newborn. Disorder of sexual differentiation is a complex of medical conditions in which there is a mismatch between a person’s genetic, gonadal and phenotypic sex.Sometimes it is difficult to visually determine the sex of a child born with disorder of the sexual development due to an abnormal, undefined structure of the external genitalia. For example, they may have the appearance of hypertrophied labia majora and/or a hypertrophied clitoris and the absence of testicles, or vice versa, the child’s genitals may have a normal appearance, but at the same time the internal genitals may be improperly developed.To determine which gender to choose for a child with disorder of sexual differentiation, a number of examinations, including genetic ones, should be carried out. Disorder of sexual differentiation is a complex medical and social problem involving a multidisciplinary team of doctors and the patient’s family. This article describes a clinical case of a child with disorder of sexual differentiation at the stage of diagnosis verification. An interdisciplinary approach is an integral part of accompanying a child with disorder of sexual differentiation, where the joint efforts of doctors, psychologists, teachers and other specialists contribute to the creation of inclusive and safe conditions for the development of each person.