X染色体短臂缺失的患者,临床表型多数具有典型Turner综合征体征和性腺发育不全,少数可仅有Turner综合征体和轻微性功能失调。如月经紊乱或流产,其内分泌状态正常;正常女性表型及正常妊娠分娩者亦见报道。但X染色体结构异常,临床表型却为性征过早发育,在国内外均未见报告。我院于1985年10月发现1例,报告如下。 In patients with missing X-short arm, most of the clinical phenotypes have signs of Turner syndrome and gonadal hypoplasia, with only a few having Turner’s syndrome and minor dysfunction. Such as menstrual disorders or abortion, the endocrine state is normal; normal female phenotype and normal pregnancy delivery are also reported. However, X chromosome abnormalities, clinical phenotype but premature sexual development, no reports at home and abroad. In our hospital in October 1985 found in 1 case, the report is as follows.