title: Male hypogonadism in myotonic dystrophy is related to (CTG)n triplet mutation.
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.
authors.affiliation: Istituto di Semeiotica Medica, University of Padua, Italy.
authors.forename: I
authors.initials: I
authors.lastname: Mastrogiacomo
authors.forename: E
authors.initials: E
authors.lastname: Pagani
authors.forename: G
authors.initials: G
authors.lastname: Novelli
authors.forename: C
authors.initials: C
authors.lastname: Angelini
authors.forename: M
authors.initials: M
authors.lastname: Gennarelli
authors.forename: E
authors.initials: E
authors.lastname: Menegazzo
authors.forename: G
authors.initials: G
authors.lastname: Bonanni
authors.forename: B
authors.initials: B
authors.lastname: Dallapiccola
mesh_terms: D000328:Adult; D001483:Base Sequence; D006801:Humans; D007006:Hypogonadism / Q000209:etiology* / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D009223:Myotonic Dystrophy / Q000150:complications* / Q000201:enzymology; D065636:Myotonin-Protein Kinase; D011494:Protein Kinases / Q000235:genetics; D017346:Protein Serine-Threonine Kinases / Q000235:genetics; D012091:Repetitive Sequences, Nucleic Acid
chemical_list: C585517:DMPK protein, human; D011494:Protein Kinases; D065636:Myotonin-Protein Kinase; D017346:Protein Serine-Threonine Kinases