
Sex development is determined by gene networks that differentiate the gonads into testes or ovaries, followed by the differentiation of internal and external genitalia based on the presence or absence of hormones. Differences in sex development (DSD) arise from congenital alterations during these processes and are classified based on sex chromosomal constitution. Understanding the genetics and embryology of typical and atypical sex development is essential for diagnosing, treating, and managing DSD. Advances have been made in understanding the genetic causes of DSD, especially for 46, XY DSD. Ongoing research is focused on discovering further genes related to typical and atypical sex development to improve the diagnosis of DSD.
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