Moorthy A V, Chesney R W, Lubinsky M
Department of Medicine, University of Wisconsin, Madison.
Am J Med Genet Suppl. 1987;3:297-302. doi: 10.1002/ajmg.1320280535.
The development of chronic renal failure because of parenchymatous renal disease in patients in 46,XY gonadal dysgenesis was noted initially by Drash et al [J Pediatr 76:585-593, 1970]. However, we think that some of the cases reported as examples of the Drash syndrome are a different disorder. In this paper, we review six previously reported patients with streak gonads, pseudohermaphroditism, and renal failure. In several of these patients the diagnosis was established only after a successful kidney transplantation during evaluation for primary amenorrhea. Gonadoblastoma arising from the streak gonad was noted in five of the six patients. "Frasier" syndrome would be a suitable term to denote this association after Frasier et al, who described two patients in 1964. We recommend evaluation of the gonads in prepubertal girls with end-stage renal disease at risk for this syndrome.
1970年，德拉什等人首次注意到46，XY性腺发育不全患者因实质性肾病而发展为慢性肾衰竭[《儿科学杂志》76:585 - 593，1970年]。然而，我们认为一些被报道为德拉什综合征实例的病例是一种不同的病症。在本文中，我们回顾了先前报道的6例患有条索状性腺、假两性畸形和肾衰竭的患者。在其中几名患者中，诊断仅在因原发性闭经进行评估期间成功进行肾移植后才得以确立。6例患者中有5例发现条索状性腺发生了性腺母细胞瘤。在弗雷泽等人于1964年描述了2例患者之后，“弗雷泽”综合征将是表示这种关联的一个合适术语。我们建议对患有终末期肾病且有患此综合征风险的青春期前女孩的性腺进行评估。
