Endocrine Aspects of Dystrophia Myotonica

STHNERT (1909) was the first to draw attention to the endocrine aspects of dystrophia myotonica. He noted the occurrence of goitre, gonadal atrophy and premature frontal baldness. Naegeli (1917) commented on the incidence of goitre, and Vogt (1921) noted loss of potentia in males and believed the development of the menarche was late and the onset of the menopause was early. Hoffmann (1912) concluded the disease was endocrinal in origin. Greenfield (1911) drew attention to cataract as a variable feature of the disorder. Adie and Greenfield (1923) described somewhat indeterminate changes in the pituitary and adrenal glands. Caughey and Brown (1950) reported on the endocrine status of 9 patients with the fully developed disorder. They found radiological changes in the skull which they suggested should come to be accepted as variable features of the disorder. Gonadal atrophy occurred in 5 males out of 7. In 1, both spermatogenic and interstitial cells of the testes were atrophic, whereas in others the interstitial cells were spared. The excretion of follicular stimulating hormone was elevated in 3. The 17-ketosteroids were very low in some, and thyroid function was impaired in some. In 3, glucose tolerance curves were abnormal. It was suggested the principal endocrine defect was a primary failure of the androgenic function of the gonads and adrenals. CASE SUMMARIES Case 1.—Mrs. I. B. A Puerto Rican housewife aged 35 years with myotonia, muscle wasting, cataracts and hyperostosis cranii. Following influenza, eight years before admission to hospital, she noticed weakness of both legs. This weakness became progressively worse over the following eight