Expanding the clinical spectrum of Frasier syndrome

Katja Gwin, Mariana M. Cajaiba, Alejandra Caminoa-Lizarralde, Maria L. Picazo, Manuel Nistal, Miguel Reyes-Múgica

Research output: Contribution to journalArticle

18 Citations (Scopus)

Abstract

Frasier syndrome is an uncommon genetic disorder featuring progressive glomerulopathy, male pseudohermaphroditism, and gonadal dysgenesis with increased risk of gonadoblastoma and malignant germ cell tumors. It is caused by mutations in the donor splice site in intron 9 of the WT1 gene. However, because of its rarity there is limited literature available on the precise spectrum and recommended treatment modalities of this syndrome. We present the clinicopathological findings in 4 patients: 3 phenotypically female adolescents presenting with proteinuria and primary amenorrhea and a 6-month-old baby girl presenting with nephrotic syndrome in whom this very unusual case of early onset was confirmed by molecular studies. The significance of early recognition of Frasier syndrome and its differentiation from Denys-Drash syndrome is reviewed and discussed. Our observation of a case presenting with early clinical manifestations, in contrast with the classical presentation in adolescence, justifies the expansion of the clinical spectrum of Frasier syndrome and contributes to the understanding and appropriate clinical management of these patients.

Original languageEnglish (US)
Pages (from-to)122-127
Number of pages6
JournalPediatric and Developmental Pathology
Volume11
Issue number2
DOIs
StatePublished - Mar 2008

Fingerprint

Frasier Syndrome
Denys-Drash Syndrome
Gonadoblastoma
XY Disorders of Sex Development 46
Gonadal Dysgenesis
RNA Splice Sites
Inborn Genetic Diseases
Germ Cell and Embryonal Neoplasms
Amenorrhea
Nephrotic Syndrome
Proteinuria
Introns
Observation
Mutation
Genes

Keywords

  • Focal and segmental glomerulosclerosis
  • Frasier syndrome
  • Gonadoblastoma
  • Nephrotic syndrome
  • Pseudohermaphroditism
  • WT-1 gene

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Pathology and Forensic Medicine

Cite this

Gwin, K., Cajaiba, M. M., Caminoa-Lizarralde, A., Picazo, M. L., Nistal, M., & Reyes-Múgica, M. (2008). Expanding the clinical spectrum of Frasier syndrome. Pediatric and Developmental Pathology, 11(2), 122-127. https://doi.org/10.2350/07-01-0209.1

Expanding the clinical spectrum of Frasier syndrome. / Gwin, Katja; Cajaiba, Mariana M.; Caminoa-Lizarralde, Alejandra; Picazo, Maria L.; Nistal, Manuel; Reyes-Múgica, Miguel.

In: Pediatric and Developmental Pathology, Vol. 11, No. 2, 03.2008, p. 122-127.

Research output: Contribution to journalArticle

Gwin, K, Cajaiba, MM, Caminoa-Lizarralde, A, Picazo, ML, Nistal, M & Reyes-Múgica, M 2008, 'Expanding the clinical spectrum of Frasier syndrome', Pediatric and Developmental Pathology, vol. 11, no. 2, pp. 122-127. https://doi.org/10.2350/07-01-0209.1
Gwin K, Cajaiba MM, Caminoa-Lizarralde A, Picazo ML, Nistal M, Reyes-Múgica M. Expanding the clinical spectrum of Frasier syndrome. Pediatric and Developmental Pathology. 2008 Mar;11(2):122-127. https://doi.org/10.2350/07-01-0209.1
Gwin, Katja ; Cajaiba, Mariana M. ; Caminoa-Lizarralde, Alejandra ; Picazo, Maria L. ; Nistal, Manuel ; Reyes-Múgica, Miguel. / Expanding the clinical spectrum of Frasier syndrome. In: Pediatric and Developmental Pathology. 2008 ; Vol. 11, No. 2. pp. 122-127.
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