Literature DB >> 8077624

Male hypogonadism in myotonic dystrophy is related to (CTG)n triplet mutation.

I Mastrogiacomo1, E Pagani, G Novelli, C Angelini, M Gennarelli, E Menegazzo, G Bonanni, B Dallapiccola.   

Abstract

The Authors considered the relationship between hypogonadism in myotonic dystrophy (MD) and MT-PK gene mutation. Twenty-seven subjects were studied, and the (CTG)n amplification varied from 70 to 1520 (mean 661 +/- 463). Hypergonadotropic-hypogonadism with LH levels of 6.94 +/- 3.87 and FSH 14.54 +/- 9.58 IU/L was present; testosterone still showed normal values (505.7 +/- 376.2 ng/dl), but 44.4% of patients had abnormal serum level less than 250 ng/dl. We found a significant correlation (p < 0.001) between CTG repeat size and levels of both LH and FSH: these findings suggest that the severity of hypogonadism is related to MT-PK gene mutation.

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Year:  1994        PMID： 8077624     DOI： 10.1007/BF03349005

Source DB:  PubMed          Journal:  J Endocrinol Invest        ISSN： 0391-4097            Impact factor:   4.256


  7 in total

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4.  Intestinal pseudo-obstruction in myotonic dystrophy.

Authors:  H G Brunner; B C Hamel; P Rieu; C J Höweler; F T Peters
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Journal:  Nature       Date:  1992-02-06       Impact factor: 49.962

6.  Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy.

Authors:  H G Harley; S A Rundle; J C MacMillan; J Myring; J D Brook; S Crow; W Reardon; I Fenton; D J Shaw; P S Harper
Journal:  Am J Hum Genet       Date:  1993-06       Impact factor: 11.025

7.  (CTG)n triplet mutation and phenotype manifestations in myotonic dystrophy patients.

Authors:  G Novelli; M Gennarelli; E Menegazzo; M L Mostacciuolo; A Pizzuti; C Fattorini; D Tessarolo; G Tomelleri; M Giacanelli; G A Danieli
Journal:  Biochem Med Metab Biol       Date:  1993-08
  7 in total
  4 in total

1.  Endocrine function in 97 patients with myotonic dystrophy type 1.

Authors:  M C Ørngreen; P Arlien-Søborg; M Duno; J M Hertz; J Vissing
Journal:  J Neurol       Date:  2012-02-17       Impact factor: 4.849

2.  Hormonal and metabolic gender differences in a cohort of myotonic dystrophy type 1 subjects: a retrospective, case-control study.

Authors:  M Spaziani; A Semeraro; E Bucci; F Rossi; M Garibaldi; M A Papassifachis; C Pozza; A Anzuini; A Lenzi; G Antonini; A F Radicioni
Journal:  J Endocrinol Invest       Date:  2019-11-30       Impact factor: 4.256

3.  Clinical and hormonal aspects of male hypogonadism in myotonic dystrophy.

Authors:  I Mastrogiacomo; G Bonanni; E Menegazzo; C Santarossa; E Pagani; M Gennarelli; C Angelini
Journal:  Ital J Neurol Sci       Date:  1996-02

4.  Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study.

Authors:  Celine Dogan; Marie De Antonio; Dalil Hamroun; Hugo Varet; Marianne Fabbro; Felix Rougier; Khadija Amarof; Marie-Christine Arne Bes; Anne-Laure Bedat-Millet; Anthony Behin; Remi Bellance; Françoise Bouhour; Celia Boutte; François Boyer; Emmanuelle Campana-Salort; Françoise Chapon; Pascal Cintas; Claude Desnuelle; Romain Deschamps; Valerie Drouin-Garraud; Xavier Ferrer; Helene Gervais-Bernard; Karima Ghorab; Pascal Laforet; Armelle Magot; Laurent Magy; Dominique Menard; Marie-Christine Minot; Aleksandra Nadaj-Pakleza; Sybille Pellieux; Yann Pereon; Marguerite Preudhomme; Jean Pouget; Sabrina Sacconi; Guilhem Sole; Tanya Stojkovich; Vincent Tiffreau; Andoni Urtizberea; Christophe Vial; Fabien Zagnoli; Gilbert Caranhac; Claude Bourlier; Gerard Riviere; Alain Geille; Romain K Gherardi; Bruno Eymard; Jack Puymirat; Sandrine Katsahian; Guillaume Bassez
Journal:  PLoS One       Date:  2016-02-05       Impact factor: 3.240
  4 in total

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