Article
Male hypogonadism in myotonic dystrophy is related to (CTG)n triplet mutation.
Journal of endocrinological investigation - 1 May 1994
Mastrogiacomo I, Pagani E, Novelli G, Angelini C, Gennarelli M, Menegazzo E, Bonanni G, Dallapiccola B
Abstract excerpt
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...
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