Frasier Syndrome

Common Name(s)

Frasier Syndrome

Frasier syndrome is a rare disorder defined by pseudohermaphroditism and progressive glomerulopathy ({5:Frasier et al., 1964}; {6:Haning et al., 1985}; {7:Kinberg et al., 1987}). Patients present with normal female external genitalia, streak gonads, and XY karyotype, and frequently develop gonadoblastoma ({3:Blanchet et al., 1977}). Glomerular symptoms consist of childhood proteinuria and nephrotic syndrome, characterized by nonspecific focal and segmental glomerular sclerosis, progressing to end-stage renal failure in adolescence or early adulthood. Wilms tumor is not a usual feature ({1:Barbaux et al., 1997}).
 

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Condition Specific Organizations

Following organizations serve the condition "Frasier Syndrome" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Frasier Syndrome" returned 11 free, full-text research articles on human participants. First 3 results:

Proteinuria in Frasier syndrome.
 

Author(s): Amira Peco-Antić, Fatih Ozaltin, Vojislav Parezanović, Gordana Milosevski-Lomić, Verica Zdravković

Journal: Srp Arh Celok Lek. ;141(9-10):685-8.

 

Frasier syndrome (FS) is a genetic form of glomerulopathy, which results from mutations in the Wilms'tumour suppressor gene (WT1). Proteinuria in FS has been traditionally considered unresponsive to any medication and FS inevitably progresses to end stage renal failure.

Last Updated: 24 Dec 2013

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Frasier syndrome: four new cases with unusual presentations.
 

Author(s): Mara Sanches Guaragna, Anna Cristina Gervásio de Britto Lutaif, Viviane Barros Bittencourt, Cristiane Santos Cruz Piveta, Fernanda Caroline Soardi, Luiz Claudio Gonçalves Castro, Vera Maria Santoro Belangero, Andréa Trevas Maciel-Guerra, Gil Guerra-Junior, Maricilda Palandi De Mello

Journal: Arq Bras Endocrinol Metabol. 2012 Nov;56(8):525-32.

 

Frasier syndrome (FS) is characterized by gonadal dysgenesis and nephropathy. It is caused by specific mutations in the Wilms' tumor suppressor gene (WT1) located in 11p23. Patients with the 46,XY karyotype present normal female genitalia with streak gonads, and have higher risk of ...

Last Updated: 8 Jan 2013

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Sertoli cell tumor and gonadoblastoma in an untreated 29-year-old 46,XY phenotypic male with Frasier syndrome carrying a WT1 IVS9+4C>T mutation.
 

Author(s): Sophia Kitsiou-Tzeli, Maria Deligiorgi, Sophia Malaktari-Skarantavou, Charalampos Vlachopoulos, Spyridon Megremis, Irene Fylaktou, Joanne Traeger-Synodinos, Christina Kanaka-Gantenbein, Christodoulos Stefanadis, Emmanuel Kanavakis

Journal: Hormones (Athens). ;11(3):361-7.

 

Frasier syndrome (FS) phenotype in 46,XY patients usually consists of female external genitalia, gonadal dysgenesis, high risk of gonadoblastoma and the development of end stage renal failure usually in the second decade of life. FS is caused by heterozygous de novo intronic splice ...

Last Updated: 21 Aug 2012

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Reviews from the PubMed Database

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The terms "Frasier Syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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