1 Frasier syndrome

Frasier syndrome

is XY females with gonadal dysgenesis, progressive glomerulopathy (FSGS), and a significant risk of gonadoblastoma.

Mutations in the donor splice site in intron 9 of the Wilms' tumor (WT1) gene have been shown to cause Frasier syndrome and are distinct from WT1 exon mutations associated with Denys-Drash syndrome.

The WT1 gene, which is essential for normal kidney and gonadal development, encodes a zinc finger transcription factor.

 It is proposed that the clinical definition of Frasier syndrome should be broadened to include 46,XX females with normal genital development and focal segmental glomerulosclerosis associated with a WT1 intron 9 donor splice site mutation. Nephrologists need to consider the possibility of this heritable syndrome in evaluation of females with focal segmental glomerulosclerosis and to consider their risk for gonadal malignancy, as well as the risk for kidney disease, gonadal dysgenesis, and malignancy in their offspring.

Do not confuse it with Fraser syndrome (AR congenital inheritance): It is characterized by developmental defects including cryptophthalmos (where the eyelids fail to separate in each eye), and malformations in the genitals (such as micropenis, cryptorchidism or clitoromegaly). Congenital malformations of the nose, ears, larynx and renal system, as well as mental retardation, manifest occasionally.  Syndactyly (fused fingers or toes) has also been noted in some cases.

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