DSDs: genetics, underlying pathologies and psychosexual differentiation.
DSDs: genetics, underlying pathologies and psychosexual differentiation.
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DOI：
10.1038/nrendo.2014.130
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发表时间：
2014-10
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哺乳动物的性别决定是一个独特的过程，即一个单一的器官，双能性腺，经历一个发育开关，促进其分化为睾丸或卵巢。在人类发育过程中，这种复杂的遗传过程的中断可以表现为性发育障碍（DSD）。性别发育可以分为两个不同的过程：性别决定，其中双能性腺形成睾丸或卵巢，以及性别分化，其中完全形成的睾丸或卵巢分泌局部和激素因子来驱动内外生殖器以及性腺外组织如大脑的分化。DSD可由许多遗传性病变引起，表现为一系列性腺（性腺发育不全至卵睾丸）和生殖器（轻度尿道下裂或阴蒂肥大至不明生殖器）表型。与DSD相关的物理属性和医学影响使受影响新生儿的家庭面临决定，例如抚养或生殖器手术的性别，以及其他问题，例如对儿童性心理发展和个人愿望的不确定性。在这篇综述中，我们讨论了人类性别决定的潜在遗传学，并重点关注新兴数据，DSD的遗传分类以及围绕DSD个体性别发展和身份的其他考虑因素。
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.