Myotonic dystrophy type 1 with diabetes mellitus, mixed hypogonadism and adrenal insufficiency

Abstract

SummaryMyotonic dystrophy type 1 (DM1) is an autosomal dominant multisystem disease affecting muscles, the eyes and the endocrine organs. Diabetes mellitus and primary hypogonadism are endocrine manifestations typically seen in patients with DM1. Abnormalities of hypothalamic–pituitary–adrenal (HPA) axis have also been reported in some DM1 patients. We present a case of DM1 with a rare combination of multiple endocrinopathies; diabetes mellitus, a combined form of primary and secondary hypogonadism, and dysfunction of the HPA axis. In the present case, diabetes mellitus was characterized by severe insulin resistance with hyperinsulinemia. Glycemic control improved after modification of insulin sensitizers, such as metformin and pioglitazone. Hypogonadism was treated with testosterone replacement therapy. Notably, body composition analysis revealed increase in muscle mass and decrease in fat mass in our patient. This implies that manifestations of hypogonadism could be hidden by symptoms of myotonic dystrophy. Our patient had no symptoms associated with adrenal deficiency, so adrenal dysfunction was carefully followed up without hydrocortisone replacement therapy. In this report, we highlight the necessity for evaluation and treatment of multiple endocrinopathies in patients with DM1.Learning points:DM1 patients could be affected by a variety of multiple endocrinopathies.Our patients with DM1 presented rare combinations of multiple endocrinopathies; diabetes mellitus, combined form of primary and secondary hypogonadism and dysfunction of HPA axis.Testosterone treatment of hypogonadism in patients with DM1 could improve body composition.The patients with DM1 should be assessed endocrine functions and treated depending on the degree of each endocrine dysfunction.

A Promising Future for Stem-Cell-Based Therapies in Muscular Dystrophies—In Vitro and In Vivo Treatments to Boost Cellular Engraftment

“…The central nervous system can also be affected, leading to progressive cognitive impairment and late apathy [4], as well as gastrointestinal disorders such as constipation, incontinence, and diarrhea [5]. Endocrine dysfunction is also found, leading mostly to insulin resistance and susceptibility to diabetes, hypothyroidism, male hypogonadism, and adrenal insufficiency [6]. The second form of MMD1 is Congenital MMD; this is the most severe form of MMD, and is usually detected prenatally because of reduced fetal movements and different deformities.…”

Utility and Results from a Patient-Reported Online Survey in Myotonic Dystrophies Types 1 and 2

“…The core features for both DM1 and DM2 comprise myotonia, muscle weakness, muscle atrophy, and muscle pain. Furthermore, cardiac symptoms like arrhythmia and extra-muscular manifestations encompassing cataracts and neuropsychological symptoms like daytime sleepiness and fatigue as well as endocrine disorders are part of these multisystem disorders [7][8][9][10][11][12][13][14][15]. Characteristically, the phenotype and distribution of muscle weakness and myotonia helps to distinguish between DM1 and DM2 [16].…”

Myotonic dystrophy type 1 alters muscle twitch properties, spinal reflexes, and perturbation‐induced trans‐cortical reflexes

“…Previous studies have identified alterations in neural activation latency/refractory period and neuromuscular transmission . Although peripheral neuropathy has occasionally been noted, it is frequently mild and subclinical and may be consequent to diabetes, a common clinical correlate of DM1 …”