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Endocrine dysfunction in patients with myotonic dystrophy

Journal of Clinical Endocrinology and Metabolism Jun 20, 2021

Winters SJ, et al. - In the present study, the researcher desired to know about endocrine dysfunction in individuals with myotonic dystrophy. Myotonic dystrophy is distinguished by a highly variable phenotype that includes muscle weakness and myotonia and may impair the function of numerous endocrine glands. DMPK mRNA is expressed in muscle, testis, liver, pituitary, thyroid, and bone, causing meiosis to be disrupted and a relative increase in fetal insulin receptor-A relative to adult insulin receptor—B, resulting in adult primary testicular failure and insulin resistance, both of which predispose to diabetes. Myotonic dystrophy patients are also more likely to develop hyperlipidemia, nonalcoholic fatty liver disease, erectile dysfunction, benign and malignant thyroid nodules, bone fractures, miscarriage, preterm delivery, and failed labor during delivery. Although circulating PTH and ACTH levels may be elevated, the mechanisms underlying these associations are unknown.

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