Literature DB >> 27390584

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

Matthew Honore1, Ross Fowler1, Anthony J Kiosoglous1.   

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.

Entities:  

Keywords:  Hepatocyte nuclear factor-1β (HNF-1β); Mullerian duct cyst; Prostate cyst; Urinary outlet obstruction

Year:  2016        PMID: 27390584      PMCID: PMC4911528          DOI: 10.1159/000442862

Source DB:  PubMed          Journal:  Curr Urol        ISSN: 1661-7649


  5 in total

1.  Pectus excavatum is part of the clinical spectrum of HNF1B MODY5.

Authors:  Danièle Dubois-Laforgue; Christine Bellanné-Chantelot; Jean-François Subra; José Timsit
Journal:  Diabetes Care       Date:  2014-04       Impact factor: 19.112

Review 2.  Hepatic phenotypes of HNF1B gene mutations: a case of neonatal cholestasis requiring portoenterostomy and literature review.

Authors:  Radana Kotalova; Petra Dusatkova; Ondrej Cinek; Lenka Dusatkova; Tomas Dedic; Tomas Seeman; Jan Lebl; Stepanka Pruhova
Journal:  World J Gastroenterol       Date:  2015-02-28       Impact factor: 5.742

3.  Atypical phenotypic features among carriers of a novel Q248X nonsense mutation in the HNF1B gene.

Authors:  Anna Hogendorf; Małgorzata Kosińska-Urbańska; Maciej Borowiec; Karolina Antosik; Krystyna Wyka; Wojciech Młynarski
Journal:  Endokrynol Pol       Date:  2015       Impact factor: 1.582

4.  Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations.

Authors:  Christine Bellanné-Chantelot; Dominique Chauveau; Jean-François Gautier; Danièle Dubois-Laforgue; Séverine Clauin; Sandrine Beaufils; Jean-Marie Wilhelm; Christian Boitard; Laure-Hélène Noël; Gilberto Velho; José Timsit
Journal:  Ann Intern Med       Date:  2004-04-06       Impact factor: 25.391

Review 5.  HNF1B-associated renal and extra-renal disease-an expanding clinical spectrum.

Authors:  Rhian L Clissold; Alexander J Hamilton; Andrew T Hattersley; Sian Ellard; Coralie Bingham
Journal:  Nat Rev Nephrol       Date:  2014-12-23       Impact factor: 28.314

  5 in total

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