Turner综合征的临床研究(附15例报告)

Clinical Researches on the Turner's Syndrome

从1979～1992年对15例Turner综合征患者的临床病因、发病原理、临床分型和表现、诊断和防治等进行了系统观察和研究。它是一种少见的先天性卵巢发育不全的疾病,由染色体畸变所引起(最常见的组型为45,XO或少见的嵌合体)。临床分女性和男性表现型,本组15例均为女性型。主要表现身材矮小、性幼稚、原发性闭经、乳房不发育、幼女型外阴和常伴多种畸形(黑痣、颈蹼、第四趾短缺和心血管畸形等),内分泌改变以促性腺激素增高和雌激素水平下降为特点。小剂量雌激素长期治疗可促进内外生殖器发育。羊水穿刺可作出生前诊断,及早人工流产有预防价值。

Fifteen cases of the Turner's syndrome were studied. The aetiology, pathogenesis, classification, clinical features, early diagnosis, treatment and prevention were discussed. Turner's Syndrome is a disease of abnormality of sex chromosomes. The commonest genotype is XO, but may be XX or a mosaic. Generally, it can be classified into two types-female phenotype and male pbenotype. All of the 15 cases were of female phenotype and showed gonadal aplasia, sexual infantilism, dwarfism, webbed neck cubitus valgus, primary amenorrhoea, poor breast development, sparse pubic and axillary hair, aortic stenosis and ventricular septal defect, increasing excretion of urinary gonadotropin, reducing of estrogen and a negative nuclear chromatin.Continuous estrogen treatment was administered for six months. In all cases, secondary sexual development and withdrawal bleeding occurred. Amniotic fluid puncture can be used in the diagnosis of chromosomal abnormalities before birth. Induced abortion should be done if the disease was discovered during pregnancy.