García-Acero Mary, Moreno Olga, Suárez Fernando, Rojas Adriana
Human Genetic Institute, Medicine Faculty, Pontificia Universidad Javeriana, Bogotá, Colombia.
Curr Urol. 2020 Jan;13(4):169-178. doi: 10.1159/000499274. Epub 2020 Jan 7.
Disorders of sexual development (DSD) are conditions with an atypical chromosomal, gonadal or phenotypic sex, which leads to differences in the development of the urogenital tract and different clinical phenotypes. Some genes have been implicated in the sex development during gonadal and functional differentiation where the maintenance of the somatic sex of the gonad as either male or female is achieved by suppression of the alternate route. The diagnosis of DSD requires a structured approach, involving a multidisciplinary team and different molecular techniques. We discuss the dimorphic genes and the specific pathways involved in gonadal differentiation, as well as new techniques for genetic analysis and their diagnostic value including epigenetic mechanisms, expanding the evidence in the diagnostic approach of individuals with DSD to increase knowledge of the etiology.
性发育障碍（DSD）是指具有非典型染色体、性腺或表型性别的病症，这会导致泌尿生殖道发育差异和不同的临床表型。一些基因在性腺和功能分化过程中的性发育中发挥作用，在这个过程中，通过抑制替代途径来维持性腺的体细胞性别为男性或女性。DSD的诊断需要一种结构化方法，涉及多学科团队和不同的分子技术。我们讨论了性腺分化中涉及的双态基因和特定途径，以及遗传分析的新技术及其诊断价值，包括表观遗传机制，以扩展DSD个体诊断方法的证据，从而增加对病因的认识。
