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Hormones

, Volume 11, Issue 3, pp 361–367 | Cite as

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

  • Sophia Kitsiou-Tzeli
  • Maria Deligiorgi
  • Sophia Malaktari-Skarantavou
  • Charalampos Vlachopoulos
  • Spyridon Megremis
  • Irene Fylaktou
  • Joanne Traeger-Synodinos
  • Christina Kanaka-Gantenbein
  • Christodoulos Stefanadis
  • Emmanuel Kanavakis
Case report

Abstract

OBJECTIVE

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 site mutations of the Wilms’ tumor suppressor gene 1 (WT1), although a few cases with typical exonic WT1 Denys-Drash mutations that resemble an FS phenotype have been described. The aim of this study was to present further data on the spectrum of FS phenotypes through the evaluation of a 29-year-old patient with a predominantly male phenotype and coexistence of Sertoli cell tumor and gonadoblastoma.

RESULTS

Genetic analysis using standard methods for DNA sequencing confirmed FS due to a WT1 gene mutation, IVS9+4C>T.

CONCLUSIONS

This very rare case illustrates the natural course of FS over many years due to the neglect by the patient to address his need for follow-up, while adding further data on the spectrum of FS phenotypes associated with IVS9+4 C>T mutations. The coexistence of the rare Sertoli cell tumor and gonadoblastoma emphasizes that early clinical recognition and molecular identification facilitates appropriate patient management, especially with respect to the high risk of gonadal malignancy.

Key words

ABSTRACT Frasier syndrome Sertoli cell tumor Gonadoblastoma WT1 gene 

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Copyright information

© Hellenic Endocrine Society 2012

Authors and Affiliations

  • Sophia Kitsiou-Tzeli
    • 1
  • Maria Deligiorgi
    • 2
  • Sophia Malaktari-Skarantavou
    • 2
  • Charalampos Vlachopoulos
    • 3
  • Spyridon Megremis
    • 1
  • Irene Fylaktou
    • 1
  • Joanne Traeger-Synodinos
    • 1
  • Christina Kanaka-Gantenbein
    • 4
  • Christodoulos Stefanadis
    • 3
  • Emmanuel Kanavakis
    • 1
  1. 1.Department of Medical Genetics, Medical School, University of AthensAghia Sophia Children’s HospitalAthensGreece
  2. 2.Department of Endocrinology and MetabolismHippokration General Hospital of AthensGreece
  3. 3.1st Department of Cardiology, Medical School, University of AthensHippokration HospitalGreece
  4. 4.Division of Endocrinology, Diabetes and Metabolism, First Department of Pediatrics, Medical School, University of AthensAghia Sophia Children’s HospitalAthensGreece

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