Heidenreich W, Hienz H A, Zimmermann P, Werle K P
Med Klin. 1977 May 27;72(21):952-5.
In a 17-year-old patient gonadal dysgenesis with a XY-karyotype was diagnosed by laparoscopy and chromosomal analysis. Two years later, the patient came again to the hospital because of a large tumour which proved to be a dysgerminoma. Except dysgerminomas, other germ cell tumours are also found in gonadal dysgenesis, for example gonadoblastomas, which consist of germinal cells, Sertoli-granulosa-cells and interstitial cells. In most cases of gonadal dysgenesis with a germ cell tumour a Y-chromosome is present. The risk of a gonadal tumour in such cases is estimated to be 25%. In gonadal dysgenesis with a Y-chromosome a prophylactic extirpation of the gonads is necessary, which should be combined with a hysterectomy.
一名17岁患者经腹腔镜检查和染色体分析被诊断为XY核型性腺发育不全。两年后,该患者因一个巨大肿瘤再次入院,经证实为无性细胞瘤。除无性细胞瘤外,性腺发育不全中还可发现其他生殖细胞肿瘤,例如由生殖细胞、支持-颗粒细胞和间质细胞组成的性腺母细胞瘤。在大多数患有生殖细胞肿瘤的性腺发育不全病例中存在Y染色体。此类病例发生性腺肿瘤的风险估计为25%。对于伴有Y染色体的性腺发育不全,必须进行性腺预防性切除,并应同时行子宫切除术。