Features of sexual development in newborns: variants of the norm and deviation

Abstract

The identification of the person's biological sex based on various anatomical, physiological, and genetic markers that distinguish men from women, includes genetic, gonadal, and phenotypic sex types. Aim: to analyze modern data on the definition, diagnosis, and management of patients with disorders of sexual differentiation (DSD) and to present a clinical case of a child at the stage of diagnostic verification. This categorization process, known as sexual differentiation, is driven by genetic and hormonal factors during prenatal development. Disruptions in this intricate process can lead to DSD, complex conditions characterized by discrepancies between an individual's genetic, gonadal, and phenotypic features. Children with these disorders often face significant challenges in identifying their sex due to atypical and ambiguous external genital features. Such atypical presentations underscore the need for a comprehensive approach to diagnosis and management. Determining the appropriate legal sex of a child affected by these disorders necessitates thorough examinations, including genetic testing. Recent scientific advances have highlighted the pivotal role of histological and karyotypic analyses in classifying and managing DSD, further emphasizing the need for early and accurate diagnosis to facilitate the successful integration of affected individuals into society. An interdisciplinary approach is an integral part of supporting a child with a DSD, where the joint efforts of doctors, psychologists, teachers, and other specialists contribute to creating inclusive and safe conditions for the development of each individual. No conflict of interests was declared by the authors.