Mixed Gonadal Dysgenesis(混合型性腺形成不全症)の7例

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Seven cases of mixed gonadal dysgenesis are herein reported. Four cases were reared as females and other three were reared as males. All patients had ambiguous external genitalia of varied degrees. Sex chromosome analysis which was performed in all cases but one disclosed tow cases of 46,XY; one case of 45,XO/46,XY; one case of 45,XO/46,XYq-; one case of 46,XY/47,XY_<+mar> and one case of 45,XO/46,XY/47,XYY. The serum LH and FSH levels or urinary gonadotropin levels were markedly high in four postpubertal patients and these values showed no remarkable elevation in an infantile case. The serum testosterone levels of three patients were variable depending on their testicular function and these basal levels were elevated to some extent by hCG stimulation. A hypoplastic uterus with bilateral fallopian tubes, a testicle on one side and a streak gonad on the other side were discovered at exploratory laparotomy in all cases. In two of the three patients in whom the testicle was not removed at the first laparotomy, gonadal tumors such as teratocarcinoma and gonadoblastoma developed after puberty. Sex chromosome study in an individual with ambiguous external genitalia is most important to find out mixed gonadal dysgenesis. Hormonal assays are also useful. Exploratory laparotomy is imperative to diagnose this syndrome correctly. Frequent occurrence of gonadal tumors indicates an early prophylactic gondadectomy in cases of mixed gonadal dysgenesis, especially in those with the XY karyotype.

Mixed Gonadal Dysgenesis(混合型性腺形成不全症)の7例

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