Endocrine Abstracts

Introduction: Myotonic dystrophy type 1 (DMT1) is the most prevalent muscular dystrophy that affects 1 in 8000 individuals. Disease is caused by CTG repeat expansion of the DMPK gene located on chromosome 19. Beside neuromuscular involvement, studies have found an increased prevalence of endocrinopathies such as diabetes, hyperparathyroidism and hypogonadism. The exact underlying mechanism of endocrine dysfunction remains unclear. Moreover, endocrine dysfunction is progressive...

Adrenoleukodystrophy (ALD) is a monogenic, X-linked hereditary disorder. Mutation in the ABCD1 gene results in the adrenoleukodystrophy protein (ALDP) deficiency which is involved in the intracellular transport and metabolism of very long-chain fatty acids (VLCFAs). Consequently, VLCFAs accumulate in the central and peripheral nervous systems and adrenal glands leading to the destruction of affected tissues and specific symptoms and signs. There are four distinct types of ALD ...

Introduction: Diabetic ketoacidosis (DKA) is one of the most serious acute complications of diabetes mellitus (DM). In some studies, infections have been shown to be a precipitating factor in half of the subjects. On the other hand, several recent studies emphasise that poor treatment adherence is also a common cause of DKA.Objective: To identify the most common precipitating factors for DKA in the Republic of Croatia.Patients and ...