DYSTROPHIA MYOTONICA, WITH SPECIAL REFERENCE TO ENDOCRINE FUNCTION (KLINEFELTER'S SYNDROME)*

Abstract

DYSTROPHIA myotonica is an heredodegenerative disease with protean manifestations. Among the most frequently encountered ofthese are myotonia, muscle atrophy, cataracts, premature senility andhypofunction of the endocrine glands. The many aspects of the diseasehave been thoroughly reviewed in recent years by Waring (1, 2, 3, 4). The nature of the endocrine disturbance has not been clearly established,however, and there are various theories as to the actual site of thepathologic changes. Three cases of dystrophia myotonica, 1 with a necropsy,are here presented, with a discussion of the endocrine features inrelation to the existing theories. Two of these cases present also thesymptom complex of gynecomastia, aspermatogenesis, high urinarygonadotropins, small testes and low urinary 17-ketosteroid level, describedby Klinefelter et al. (5). Case 1: A 56-year-old white male gave a typical history of myotonia and muscleatrophy since the age of 20. He married and apparently had a normal sexual life butduring fifteen years of marriage his wife had no pregnancies, although contraceptiveswere not used. Physical examination revealed progeria, muscular atrophy and myotonia;punctate opacities in the lens cortex bilaterally, moderate gynecomastia and small testes.