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本文分析了1例(45,XO/47,XYY)及文献中7例(5例 XO/XYY 和2例 XO/XY/XYY)的临床表现型及性腺组织学。8例均为性腺发育不全,女性表型,女性内生殖器伴身体矮小等 Turner躯体体征。在有完整资料的5例中,2例性幼稚,2例性幼稚伴男性化表现,1例女性性征发育伴轻度男性化。8例中6例发生性母细胞瘤。文内讨论了该类嵌合体的临床表现型与性腺组织学及肿瘤分泌不同性激素的关系,并强调了性腺肿瘤与 Y 染色体的关系及性腺发育不全者检查染色体核型的临床重要性,尤其是核型中有 Y 染色体时的性腺处理问题。
In this study, 1 case (45, XO / 47, XYY) and 7 cases (5 cases XO / XYY and 2 cases XO / XY / XYY) in the literature were analyzed for clinical phenotype and gonadal histology. All 8 cases were diagnosed as Turner somatic symptoms such as gonadal dysgenesis, female phenotype and female genitalia with body shortness. In 5 cases with complete information, 2 cases were naive, 2 cases were naive with masculine manifestations, 1 case of female sexual characteristics with mild masculine. Six of 8 patients developed a blastoma. This article discusses the clinical manifestations of this type of chimera and gonadal histology and tumor secretion of different sex hormones, and highlighted the relationship between the sex chromosome tumor and Y chromosome and gonadal hypoplasia check the clinical significance of karyotype, especially Karyotype with Y chromosome gonadal handling problems.