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 10 free, full-text research articles on human participants. First 3 results:

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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Frasier syndrome: a rare cause of delayed puberty.
 

Author(s): W K Y Chan, K F To, W M But, K W Lee

Journal: Hong Kong Med J. 2006 Jun;12(3):225-7.

 

We report on a post-renal transplant patient who presented with delayed pubertal development at the age of 15 years. She had a normal female phenotype. Blood analysis showed hypergonadotropic hypogonadism. Her karyotype was 46,XY. DNA analysis showed a heterozygous mutation in the ...

Last Updated: 8 Jun 2006

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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

Registry for Patients With Wilms' Tumor Suppressor Gene 1 (WT1) Mutation Associated Diseases
 

Status: Recruiting

Condition Summary: Denys-Drash Syndrome; Frasier Syndrome; Nephrotic Syndrome; Wilms Tumor

 

Last Updated: 2 Dec 2010

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