Wai Leung Chak a , Ka Fai To b , Yuk Lun Cheng a , Kan Ming Tsui c , Kwok Wai Lo b , Hung Man Tong b , Fernand Mac-Moune Lai b , Francis Kin Ming Wong a , Koon Shing Choi a , Ka Foon Chau a , Chun Sang Li a
01 July 2002
Frasier syndrome is a rare human developmental disorder classically affecting 46,XY females and leading to male pseudohermaphroditism and chronic renal failure. We describe a family with both 46,XX and 46,XY females affected by the syndrome due to WT1 splice site mutations. The diagnosis of Frasier syndrome in 1 of the children led to the discovery of the syndrome in 2 other siblings, of whom 1 is asymptomatic. Since the mutation was not found in either parents, gonadal mosaicism was suggested. The implication of family screening for WT1 gene mutation in asymptomatic members is also discussed.