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- W2024962654 abstract "Disorders of sex development (DSDs) arise when the tightly regulated process of sex determination in the developing bipotential gonads is disrupted. In this Review, the authors discuss mutations in sex determining genes that are associated with DSDs, as well as classification of the disorders and the psychosexual differentiation of individuals with DSDs. Mammalian sex determination is the unique process whereby a single organ, the bipotential gonad, undergoes a developmental switch that promotes its differentiation into either a testis or an ovary. Disruptions of this complex genetic process during human development can manifest as disorders of sex development (DSDs). Sex development can be divided into two distinct processes: sex determination, in which the bipotential gonads form either testes or ovaries, and sex differentiation, in which the fully formed testes or ovaries secrete local and hormonal factors to drive differentiation of internal and external genitals, as well as extragonadal tissues such as the brain. DSDs can arise from a number of genetic lesions, which manifest as a spectrum of gonadal (gonadal dysgenesis to ovotestis) and genital (mild hypospadias or clitoromegaly to ambiguous genitalia) phenotypes. The physical attributes and medical implications associated with DSDs confront families of affected newborns with decisions, such as gender of rearing or genital surgery, and additional concerns, such as uncertainty over the child's psychosexual development and personal wishes later in life. In this Review, we discuss the underlying genetics of human sex determination and focus on emerging data, genetic classification of DSDs and other considerations that surround gender development and identity in individuals with DSDs." @default.
- W2024962654 created "2016-06-24" @default.
- W2024962654 creator A5037264695 @default.
- W2024962654 creator A5044860552 @default.
- W2024962654 creator A5079692842 @default.
- W2024962654 date "2014-08-05" @default.
- W2024962654 modified "2023-09-30" @default.
- W2024962654 title "DSDs: genetics, underlying pathologies and psychosexual differentiation" @default.
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