Endocrine Abstracts

Introduction: Duchenne muscular dystrophy (DMD) is a genetic condition caused by mutations in the X-linked dystrophin-gene leading to muscle degeneration and early death in males.Since DMD is characterized by aggressive inflammation it is recommended the use of pharmacological treatment with corticosteroids (CS). Type-1 diabetes mellitus (T1DM) is one of the most common chronic diseases in childhood and is caused by insulin deficiency resulting from the autoimmune destruction of insulin producing beta-cells of the pancreas.

Case presentation: We present the case of a 3-years-old male patient who was admitted in our clinic for episodes of symptomatic hypoglycemia alternating with hyperglycemia. He was diagnosed with T1DM and DMD 1-year prior his admission and had been on Humulin-N and Humulin-R combination and Deflazacort 12mg/daily treatment ever since.His medical history includes upper respiratory tract infection remitted after bronchodilator and expectorant medication in the last month.Clinical examination revealed short stature and overweight patient:height=90.9 cm (−2.71 SDS), (5-th percentile); weight=14 kg (25-th percentile); BMI=17.28 kg/m², (88-th percentile); pubertal stage-1 according to Tanner; hypotonic muscular system, hypokinetic, normal thyroid palpation, language deficiency. Lab tests revealed glycemic control with HbA1c=7.8% (in target for age), hepatic cytolysis (AST=244 IU/l, ALT=583 IU/l), euthyroidism (TSH=3.95 uIU/ml). Funduscopic examination and thyroid ultrasound were normal. During admission the patient is switched from multiple-dose-injection therapy (MDI) to cutaneous-insulin-infusion therapy (CSII) with aspart, well tolerated; basal rates, the correction factor and carbohydrates-ratio are set, followed by glycemic profile evolving favorably. Considering the risks of untreated DMD and the metabolic pathology association, the patient continues treatment with Deflazacort 12 mg/daily under multidisciplinary surveillance. Parents received nutritional counseling.

Conclusion: Possible endocrine complications of DMD with chronic CS treatment consequences regarding growth failure, pubertal disorder due to hypogonadism, excessive weight gain, diabetes, especially in pediatric patients, and bone health have not been explored in depth. Treating children can be challenging when having such rare presentation because there is a need for better comprehension of metabolic and endocrine implications for DMD with the purpose of developing improved clinical treatments and/or quality of life.