腾那(Turner)在1938年描写了一种综合征,包括女性表型、性发育不良、原发性闭经、矮身材、颈蹼和肘外翻。Wilkins等在1944年发现这种病人具有条索状性腺。条索状性腺主要为结缔组织,并无卵巢滤泡,故称性腺发育不全症。Polani等在1954年证明这个综合征的大多数病例的x小体为阴性。Ford在1959年描述其核型为45,X0。由于上述的工作,使之对该病有了一个初步完整的概念。在国内吴曼等、湖南医学院遗传组 Turner described a syndrome in 1938 that included a female phenotype, hypoplastic growth, primary amenorrhea, short stature, webbed webbed and elbow valgus. Wilkins et al found in 1944 that this patient had a cord-like gonad. Cord-like gonads mainly connective tissue, and no ovarian follicles, it is called gonadal dysgenesis. In 1954, Polani et al. Showed that most of the cases of this syndrome were x-negative. Ford in 1959 described its karyotype as 45, X0. As a result of the above work, there is a preliminary and complete concept of the disease. In the domestic Wu Man, Hunan Medical College genetic group