IMPE Abstracts

Duchenne muscular dystrophy (DMD) is a rare genetic disease characterized by progressive muscular dystrophy. Immobilization, the pathophysiology of the disease and treatment with glucocorticoids predispose to poor bone health, leading to an increased risk of fracture in these patients. Another of the most common associated endocrinological abnormalities is hypogonadotrophic hypogonadism, which can aggravate bone health. Knowledge of the risk factors and the natural history of the disease contribute to reducing comorbidities, resulting in a better quality of life.

Objective: To characterize the main endocrinological aspects in patients with DMD.

Method: Retrospective descriptive observational study of a series of cases, in 22 patients with this diagnosis treated at “Hospital General de Niños Pedro de Elizalde”, in Buenos Aires.

Results: Of 22 patients, 34% presented fractures without high-energy trauma and 75% presented vertebral fractures, all of these patients were subsequently treated with bisphosphonates. The average age of the first fracture was 12.22 years. The mean vitamin D was 18.8 ng/dl, 90% of the patients had levels below 30 ng/dl. The mean age of loss of ambulation was 10.54 years. In the group of patients older than 14 years, as an arbitrary measure of pubertal delay, 4 had a diagnosis of hypogonadotropic hypogonadism.

Conclusion: Patients with DMD should be treated by a multidisciplinary team that includes specialists in phospho calcium metabolism. It is important to carry out bone health control laboratories and bone age, to reveal risk factors. The improvement in bone health decreases the comorbidity that fractures represent in this group of patients.