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| Frasier syndrome ： ウィキペディア英語版 |
Frasier syndrome
Frasier syndrome is a urogenital anomaly associated with the ''WT1'' (Wilms tumor 1 gene) gene.
It was first characterized in 1964.
==Presentation==
Frasier syndrome presents at birth with male pseudohermaphroditism (the external genitalia have a female appearance despite an XY genotype), streak gonads and progressive glomerulonephropathy (focal segmental glomerulosclerosis). Patients are also at increased risk of genito-urinary tumors (usually gonadoblastoma).
The glomerulonephropathy presents later than in Denys-Drash syndrome, and the tumour risk phenotype is different - whilst DDS is associated with Wilms' tumour, Frasier syndrome is associated with gonadoblastoma. Differentiating between the two syndromes can be challenging.〔http://www.ncbi.nlm.nih.gov/omim/136680〕
抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』
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