Frasier syndrome

For the anatomical abnormality observed in 1965, see Fraser syndrome.
Frasier syndrome
Classification and external resources
OMIM 136680
DiseasesDB 32455
MeSH D052159

Frasier syndrome is a urogenital anomaly associated with WT1.[1]

It was first characterized in 1964.[2]

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 genitourinary tumours (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.[3]

See also

WT1

Wilms tumour

Denys-Drash syndrome

References

  1. ^ Klamt B, Koziell A, Poulat F, et al. (April 1998). "Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms". Hum. Mol. Genet. 7 (4): 709–14. doi:10.1093/hmg/7.4.709. PMID 9499425. http://hmg.oxfordjournals.org/cgi/pmidlookup?view=long&pmid=9499425. 
  2. ^ FRASIER SD, BASHORE RA, MOSIER HD (May 1964). "GONADOBLASTOMA ASSOCIATED WITH PURE GONADAL DYSGENESIS IN MONOZYGOUS TWINS". J. Pediatr. 64 (5): 740–5. doi:10.1016/S0022-3476(64)80622-3. PMID 14149008. 
  3. ^ http://www.ncbi.nlm.nih.gov/omim/136680