Maleki Zahra, Loveless Meredith, Fraig Mostafa
Department of Pathology, The Johns Hopkins Pathology, Baltimore, Maryland 21224, USA.
Diagn Cytopathol. 2011 Jan;39(1):42-4. doi: 10.1002/dc.21359.
Swyer syndrome is known as pure gonadal dysgenesis. Individuals with Swyer syndrome are phenotypically female with unambiguously female genital appearance at birth, and normal Mullerian structures. The condition usually first becomes apparent in adolescence with delayed puberty and amenorrhea due to the fact that the gonads have no hormonal or reproductive potential. These individuals are characterized by 46XY karyotype, primary amenorrhea, tall stature, female external genitalia and normal but hypoestrogenised vagina and cervix. A high incidence of gonadoblastoma and germ cell malignancies has been reported in dysgenetic gonads, and therefore, the current practice is to proceed to a gonadectomy once the diagnosis is made. Herein, we report a case of gonadoblastoma and dysgerminoma diagnosed on touch preparation in a dysgenetic gonad of a 16-year-old patient with Swyer syndrome.
斯维尔综合征又称单纯性腺发育不全。患有斯维尔综合征的个体在出生时表型为女性，外生殖器外观明确为女性，且苗勒管结构正常。由于性腺没有激素或生殖潜能，这种情况通常在青春期首先表现为青春期延迟和闭经。这些个体的特征是核型为46XY、原发性闭经、身材高大、女性外生殖器以及阴道和宫颈正常但雌激素水平低下。据报道，发育不全的性腺中生殖细胞瘤和生殖细胞恶性肿瘤的发生率很高，因此，目前的做法是一旦确诊就进行性腺切除术。在此，我们报告一例16岁斯维尔综合征患者发育不全的性腺经触摸涂片诊断为生殖细胞瘤和无性细胞瘤的病例。
