正常女性染色体核型为46XX,卵巢的正常分化需要有两条健全的X染色体,因此性染色体数目或结构异常均可影响卵巢发育不全,临床上称为先天性卵巢发育不全综合症,又称Turner氏综合症。现将我科开展咨询门诊以来所见到一例报导如下: 患者杨××,20岁,未婚,因原发闭经而就诊,父母非近亲婚配,家族中无类似病症,患者为第四胎足月顺产,出生时父令33岁,母令31岁。上学期间较同年令儿童身材矮小,第二性征不发育,智力尚可。 Normal female chromosome karyotype 46XX, normal ovarian differentiation requires two healthy X chromosomes, so the number of sex chromosomes or structural abnormalities can affect ovarian hypoplasia, clinically known as congenital ovarian hypoplasia syndrome, also known as Turner Syndrome. Now we have seen an example of the cases we have seen since our consulting clinic. The patient Yang × ×, 20 years old, unmarried, because of primary amenorrhea and treatment, parents non-relatives marriage, no similar family disease, the patient is the fourth full-term Birth, birth father 33 years old, mother-of-age 31 years old. Compared to the same year during the school year, children were short stature, secondary sexual characteristics are not developed, intelligence is acceptable.