Endocrine Dysfunction in Patients With Myotonic Dystrophy

Abstract Myotonic dystrophy is a dominantly inherited multisystem disorder that results from increased CTG repeats in the 3′ region of myotonic protein kinase gene (DMPK). The mutant DMPK mRNA remains nucleus and sequesters RNA-binding proteins, including regulators splicing. characterized by highly variable phenotype includes muscle weakness myotonia, may affect function many endocrine glands. expressed muscle, testis, liver, pituitary, thyroid, bone; mutated form leads to disruption meiosis an increase fetal insulin receptor-A relative adult receptor-B, resulting primary testicular failure resistance predisposing diabetes, respectively. Patients with are also at risk for hyperlipidemia, nonalcoholic fatty liver disease, erectile dysfunction, benign malignant thyroid nodules, bone fractures, miscarriage, preterm delivery, failed labor during delivery. Circulating parathyroid hormone adrenocorticotropic levels be elevated, but mechanisms these associations unclear. This review summarizes what known about dysfunction individuals dystrophy.