Literature DB >> 22379595

Myotonic dystrophy type 1 presenting as male infertility.

Woong Bin Kim1, Ji Yun Jeong, Seung Whan Doo, Won Jae Yang, Yun Seob Song, Seung Ryul Lee, Ji Woong Park, Dong Won Kim.   

Abstract

Myotonic dystrophy 1 (DM1) is a multi-system disorder characterized by endocrine defects that include testicular and tubular atrophy, oligospermia and azoospermia, and increased follicle-stimulating hormone levels. We describe a rare case of DM1 presenting as infertility in a 29-year-old man.

Entities:  

Keywords:  Infertility; Myotonic dystrophy

Year:  2012        PMID： 22379595      PMCID： PMC3285710          DOI： 10.4111/kju.2012.53.2.134

Source DB:  PubMed          Journal:  Korean J Urol        ISSN： 2005-6737


  8 in total

Review 1.  Genetic diseases in adults.

Authors:  Peter N Kolettis
Journal:  Urol Clin North Am       Date:  2003-02       Impact factor: 2.241

2.  Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHP.

Authors:  T R Klesert; A D Otten; T D Bird; S J Tapscott
Journal:  Nat Genet       Date:  1997-08       Impact factor: 38.330

3.  Increased (CTG/CAG)(n) lengths in myotonic dystrophy type 1 and Machado-Joseph disease genes in idiopathic azoospermia patients.

Authors:  Huichin Pan; Yet-Young Li; Tung-Cheng Li; Wen-Tin Tsai; Shuan-Yow Li; Kuang-Ming Hsiao
Journal:  Hum Reprod       Date:  2002-06       Impact factor: 6.918

4.  Trinucleotide (CAG) repeat polymorphisms in the androgen receptor gene: molecular markers of risk for male infertility.

Authors:  A Mifsud; C K Sim; H Boettger-Tong; S Moreira; D J Lamb; L I Lipshultz; E L Yong
Journal:  Fertil Steril       Date:  2001-02       Impact factor: 7.329

5.  Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene.

Authors:  M Mahadevan; C Tsilfidis; L Sabourin; G Shutler; C Amemiya; G Jansen; C Neville; M Narang; J Barceló; K O'Hoy
Journal:  Science       Date:  1992-03-06       Impact factor: 47.728

6.  Comparison of the myotonic dystrophy associated CTG repeat in European and Japanese populations.

Authors:  J Davies; H Yamagata; P Shelbourne; J Buxton; T Ogihara; P Nokelainen; M Nakagawa; R Williamson; K Johnson; T Miki
Journal:  J Med Genet       Date:  1992-11       Impact factor: 6.318

7.  Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.

Authors:  J D Brook; M E McCurrach; H G Harley; A J Buckler; D Church; H Aburatani; K Hunter; V P Stanton; J P Thirion; T Hudson
Journal:  Cell       Date:  1992-02-21       Impact factor: 41.582

8.  Six5 is required for spermatogenic cell survival and spermiogenesis.

Authors:  Partha S Sarkar; Sharan Paul; Jennifer Han; Sita Reddy
Journal:  Hum Mol Genet       Date:  2004-05-26       Impact factor: 6.150
  8 in total
  1 in total

Review 1.  Sexual dysfunction and male infertility.

Authors:  Francesco Lotti; Mario Maggi
Journal:  Nat Rev Urol       Date:  2018-03-13       Impact factor: 14.432
  1 in total

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