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Y染色体对于人类及大多数哺乳动物睾丸的正常发育是必需的。如果缺乏Y染色体,胚胎性腺即分化形成为卵巢。偶而尽管有显然正常的XY性染色体成份,睾丸也不能正常发育,结果导致XY性腺发育不全。患者被当作女孩来看待,但从不来月经。他们的性腺是发育不全的,因此也不出现第二性征。内外生殖器虽然不成熟,但无疑地属于女性。这种患者没有男性生殖器,也缺乏男性化的证据。与45,X性腺发育不全的患者不同,他们的身材正常,甚至如去势者,身材更加高大丰满,此外也缺少任何Turn-
The Y chromosome is essential for the normal development of testes in humans and most mammals. In the absence of the Y chromosome, the embryonic gonads differentiate into ovaries. Occasionally despite the apparent normal XY sex chromosome composition, the testicles can not be normal development, resulting in XY gonadal dysgenesis. Patients are treated as girls, but never menstruation. Their gonads are hypoplasia, so they do not appear secondary sexual characteristics. Although immature genital inside and outside, but no doubt belongs to women. This patient has no male genitalia and also lacks evidence of masculinity. And 45, X gonadal dysplasia of different patients, their body is normal, and even castrates, tall and more plump, in addition to the lack of any Turn-