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Case Report

Free Access

Mullerian Duct Cyst Causing Bladder Outlet Obstruction in a Patient with HNF-1β Gene Deletion

Honore M. · Fowler R. · Kiosoglous A.J.

Author affiliations

Royal Brisbane and Women's Hospital, Herston, Australia

Corresponding Author

Matthew Honore

Royal Brisbane and Women's Hospital

5 Callum Close, Pelican Waters, Queensland 4551

Herston (Australia)

E-Mail matthew.honore@gmail.com

Related Articles for ""

Curr Urol 2015;9:106-108

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Abstract

A 24-year-old male was referred to a tertiary hospital for a possible prostatic abscess. The patient went into acute urinary retention. Transurethral drainage was performed. MRI pelvis three days post-operatively identified the prostatic cystic structure as a müllerian duct cyst. Several other phenotypical features were noted on examination as well as findings on investigations. From these diagnosis of hepatocyte nuclear factor-1β (HNF-1β) gene deletion was made.

© 2016 S. Karger AG, Basel


References

  1. Clissold RL, Hamilton AJ, Hattersley AT, Ellard S, Bingham C: HNF1B-associated renal and extra-renal disease-an expanding clinical spectrum. Nat Rev Nephrol 2015;11:102- 112.
  2. Bellanne-Chantelot C, Chauveau D, Gautier JF, Dubois-Laforgue D, Clauin S, Beaufils S, Wilhelm JM, Boitard C, Noël LH, Velho G, Timsit J: Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations. Ann Intern Med 2004;140:510-517.
  3. Kotalova R, Dusatkova P, Cinek O, Dusatkova L, Dedic T, Seeman T, Lebl J, Pruhova S: Hepatic phenotypes of HNF1B gene mutations: a case of neonatal cholestasis requiring portoenterostomy and literature review. World J Gastroenterol 2015;21:2550-2557.
  4. Dubois-Laforgue D, Bellanne-Chantelot C, Subra JF, Timsit J: Pectus excavatum is part of the clinical spectrum of HNF1B MODY5. Diabetes Care 2014;37:e72-73.
  5. Hogendorf A, Kosinska-Urbanska M, Borowiec M, Antosik K, Wyka K, Mlynarski W: Atypical phenotypic features among carriers of a novel Q248X nonsense mutation in the HNF1B gene. Endokrynol Pol 2015;66:15- 21.
  6. Shebel HM, Farg HM, Kolokythas O, El-Diasty T: Cysts of the lower male genitourinary tract: embryologic and anatomic considerations and differential diagnosis. Radio-graphics 2013;33:1125-1143.

Article / Publication Details

First-Page Preview
Abstract of Case Report

Received: October 07, 2015
Accepted: November 24, 2015
Published online: May 20, 2016
Issue release date: May 2016

Number of Print Pages: 3
Number of Figures: 2
Number of Tables: 0

ISSN: 1661-7649 (Print)
eISSN: 1661-7657 (Online)

For additional information: https://www.karger.com/CUR

References

  1. Clissold RL, Hamilton AJ, Hattersley AT, Ellard S, Bingham C: HNF1B-associated renal and extra-renal disease-an expanding clinical spectrum. Nat Rev Nephrol 2015;11:102- 112.
  2. Bellanne-Chantelot C, Chauveau D, Gautier JF, Dubois-Laforgue D, Clauin S, Beaufils S, Wilhelm JM, Boitard C, Noël LH, Velho G, Timsit J: Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations. Ann Intern Med 2004;140:510-517.
  3. Kotalova R, Dusatkova P, Cinek O, Dusatkova L, Dedic T, Seeman T, Lebl J, Pruhova S: Hepatic phenotypes of HNF1B gene mutations: a case of neonatal cholestasis requiring portoenterostomy and literature review. World J Gastroenterol 2015;21:2550-2557.
  4. Dubois-Laforgue D, Bellanne-Chantelot C, Subra JF, Timsit J: Pectus excavatum is part of the clinical spectrum of HNF1B MODY5. Diabetes Care 2014;37:e72-73.
  5. Hogendorf A, Kosinska-Urbanska M, Borowiec M, Antosik K, Wyka K, Mlynarski W: Atypical phenotypic features among carriers of a novel Q248X nonsense mutation in the HNF1B gene. Endokrynol Pol 2015;66:15- 21.
  6. Shebel HM, Farg HM, Kolokythas O, El-Diasty T: Cysts of the lower male genitourinary tract: embryologic and anatomic considerations and differential diagnosis. Radio-graphics 2013;33:1125-1143.

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