先天性性腺发育不全征又名Turner氏综合征。1938年首次由Turner氏报道。1944年Winkin等发现这类患者的性腺呈条索状,无生殖细胞称之为性腺发育不全征。1959年Ford等发现这类患者染色体核型为45,X。随着细胞遗传学的发展,又发现其他的一些染色体异常。归纳为以下三种类型:1.X单体型如45X;2.X嵌合体型如 Congenital gonadal dysplasia also known as Turner’s syndrome. It was first reported by Turner in 1938. In 1944, Winkin et al. Found that the gonads of these patients were cord-like, and that germ-free cells were called gonadal dysgenesis syndrome. 1959 Ford et al found that such patients with karyotype 45, X. With the development of cytogenetics, but also found some other chromosomal abnormalities. Summarized as the following three types: 1.X monomer such as 45X; 2.X chimera type