Lack of puberty despite elevated estradiol in a 46,XY phenotypic female with Frasier syndrome
Lack of puberty despite elevated estradiol in a 46,XY phenotypic female with Frasier syndrome
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DOI：
10.1507/endocrj.k05-180
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发表时间：
2006-06-01
影响因子：
2
通讯作者：
Ozono, Keiichi
中科院分区：
文献类型：
--
作者：
Miyoshi, Yoko;Santo, Yoko;Ozono, Keiichi
弗雷泽综合征的特点是缓慢进行性肾病，男性假两性畸形，条纹性腺和性腺母细胞瘤发展的高风险。在这里，我们报告一例46，XY型女性弗雷泽综合征，谁是在血液透析。虽然她的血清雌二醇水平逐年递增，但促性腺激素水平持续极高，外观仍处于青春期前。她是Wilms' tumor 1基因9内含子剪接供体位点+1位（IVS 9 + 1G > a）的一种新的鸟嘌呤>腺嘌呤点突变的杂合子。当我们遇到患有类固醇抵抗性肾病综合征和青春期延迟的患者时，应考虑到这种疾病的可能性。
Frasier syndrome is characterized by slowly progressive nephropathy, male pseudohermaphroditism, streak gonad, and high risk of gonadoblastoma development. Here we report a case of a 46,XY phenotypic female with Frasier syndrome, who was under hemodialysis. While her serum estradiol level was gradually increasing annually, gonadotropin level was constantly extremely high, and her appearance was still prepubertal. She was heterozygous for a novel guanine > adenine point mutation at position +1 of the splice donor site within intron 9 (IVS 9 + 1G > A) of the Wilms' tumor 1 gene. The possibility of this disease should be taken into consideration whenever we encounter a patient with steroid-resistant nephrotic syndrome and delayed puberty.