MALE HYPOGONADISM IN MYOTONIC-DYSTROPHY IS RELATED TO (CTG)N TRIPLET MUTATION

The authors considered the relationship between hypogonadism in myoton ic 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 norma l values (505.7+/-376.2 ng/dl), but 44.4% of patients had abnormal ser um 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 find ings suggest that the severity of hypogonadism is related to MT-PK gen e mutation.