儿童性发育异常的临床特征及染色体核型分析

Clinical manifestation and chromosomes karyotype analysis of children with disorders of sex development

目的分析性发育异常(DSD)患儿的分类和临床特征,研究各类DSD染色体核型异常与性腺表型及临床表现的关系。方法对55例DSD患儿进行临床症状、体征、染色体、腹部B超、性激素的检测,并分析性腺病理检查结果。结果 55例DSD患儿中,社会性别为女性者26例,男性29例。46,XX DSD 20例(36.3%),包括7例真两性畸形及13例先天性肾上腺皮质增生症;46,XY DSD 29例(52.7%),其中8例患儿考虑为雄激素不敏感综合征;性染色体异常DSD 6例(10.9%),包括3例Tuner综合征及1例Klinefelter综合征。结论 46,XX DSD以先天性肾上腺皮质增生症居多;46,XY DSD以睾丸功能低下及雄激素不敏感综合征居多;部分原因不明DSD可能与胚胎期睾酮分泌不足有关。

Objective To investigate the classification and clinical manifestation of disorders of sex development （ DSD）, and explore the correlation of gonads phenotype and clinical manifestation with nuclear type of chromosome in DSD. Methods The clinical symptoms, signs, nuclear type of chromosome, B ultrasound of abdomen and sex hormone were examined in 55 cases of DSD, and the pathological findings of gonads were analysed. Results The social genders of 26 cases were female, and the other 29 were male. Twenty （36.3%） cases were 46, XX DSD, including 7 cases of true hermaphrodism and 13 cases of congenital adrenal cortical hyperplasia. Twenty-nine （ 52.7% ） cases were 46, XY DSD, including 8 cases of androgen insensitivity syndrome. Six （ 10.9% ） cases were sex chromosome DSD, including 3 cases of Turner syndrome and 1 case of Klinefeher syndrome. Conclusion The majority of 46, XX DSD cases are congenital adrenal hyperplasia, most 46, XY DSD cases are androgen insensitivity syndrome and hypofunction of testis, and some cases of DSD with unknown etiology may have relationship with insufficient testosterone secretion in embryonic stage.