[Genetics of sexual differentiation].
Sexual differentiation normally proceeds in a series of consecutive steps including sex determination, gonadal differentiation, genital development, and the realization of somatic and psycho-social sex characteristics. Deviations from the normal course are known at each level of this process, resulting in sex reversal and intersexuality. Many of these abnormalities can be traced to genetic mutations. From the level of the differentiated gonad onwards, further sexual development is largely controlled by endocrine functions which are fairly well understood. By contrast, the development of the as yet undifferentiated gonad into either testis or ovary is hormone-independent, and is now believed to be due to the presence or absence of a cell surface component, the H-Y antigen. While the exact mechanism of H-Y antigen action is still under study, its biological function in testicular differentiation is well established. There are a number of mutations which interfere with normal primary gonadal differentiation, and it can be concluded from these mutations that several different genes are involved in this basic step of sexual development. Of these genes comprising the H-Y antigen system, some have regulatory, others structural functions. The H-Y antigen system promises to become a model for the understanding of the genetic control of cellular differentiation.
D012734:Disorders of Sex Development; D005260:Female; D005826:Genetics, Medical; D006182:H-Y Antigen; D006801:Humans; D008297:Male; D009154:Mutation; D012733:Sex Differentiation; D013737:Testis / Q000196:embryology
D006182:H-Y Antigen
Genetik der Geschlechtsdifferenzierung.