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...

Introduction: Loss of protective sensation, inflammation and trauma may lead in predisposed diabetics with peripheral neuropathy to Charcot foot.Methods: Regular foot screening enables identification of those individuals who are at highest risk for foot ulceration. Special attention must be paid to infection. Differentiation between osteomyelitis and Charcot arthropathy is mandatory, the two conditions may coexist. Basic conservative treatment for Charco...

Aim: To evaluate clinical presentation and thyroid dysfunction types in children with thyromegaly.Patients and methods: Thirty-nine children were referred to endocrinologist examination because of thyromegaly. Assessment of clinical history, physical examination, auxological data pubertal staging and complete evaluation of basal thyroid function were carried out in all children. Thyroid autoantibodies, urinary iodine excretion (UIE) and ultrasound examin...

Background: Prostate cancer is the most commonly diagnosed male malignancy. Androgen Deprivation Therapy (ADT) with GnRH agonist is commonly used intreating localized prostate cancer. Side effect of ADT is a loss of bone density resulting inosteopenia or osteoporosis. Research concerningpossible molecular and cellular mechanisms of ADT-induced bone changes are still incomplete. Matrix Gla Protein (MGP) is a vitamin-K-dependent protein which is synthesized in a variety of tissu...

Background: The most striking change in diabetes over recent years has been the convergence of previously distinctive phenotypes. Recently diagnosed children are younger, taller and with greater BM. Pediatric endocrinologists are facing with children presenting mixed signs of both diabetes types. So called hybrid diabetes, or type 1½ has insulin resistance in type 1 phenotype and vice versa autoimmunity in obese children.Patients and methods: Ten ch...

Introduction: Depression is the leading cause of disability worldwide, and is a major contributor to the overall global burden of disease. People with DM have 2.4–4.3 times greater risk of depression than people without DM as well as patients (pts) treated with insulin. Women experience depression more often than men. Symptoms of depression can make it more difficult to successfully manage diabetes and prevent diabetes-related complications.Material...

Magnetic resonance imaging has dramatically improved the diagnostic accuracy in the evaluation of the hypothalamo-pituitary region and investigation of morphological and structural pituitary abnormalities.Aim: To estimate pituitary dysfunction types and clinical presentation of pituitary lesions on MRI investigation, assigned as hypointense intrasellar mass (microadenoma-MA).Patients and methods: We examined 19 children and adolesc...

Introduction: Medullary thyroid carcinoma (MTC) is a calcitonin-producing tumor that predominantly occurs in a sporadic form (75%) and less commonly in an inherited form. Besides activating germline mutations of the RET proto-oncogene in hereditary syndromes of MEN2, somatic RET mutations are detectable in about 50% of sporadic MTC. Further, also RAS mutations have been discovered in 30% of RET-negative tumor tissues. Other genetic alteratio...

Background: 25-hydroxyvitamin D (25(OH)D) is metabolised into two forms of metabolites: 1,25-dihydroxyvitamin D (1,25(OH)2D) by the actions of 1α hydroxylase, and 24,25-dihydroxyvitamin D (24,25(OH)2D) by 24-hydroxylase. Studies suggest the production of 1,25(OH)2D is 24,25(OH)2D dependent. Genetic mutations of CYP24A1 gene resulting in reduced or total loss of 24-hydroxylase function are associated with hypercalcaemic condition...

Background: Patients with type 2 diabetes (T2DM) are generally known to have increased risk of various types of cancer. However, the studies addressing the association between T2DM and thyroid cancer are heterogeneous and inconclusive. The aim of our study was to evaluate the patients who have already undergone thyroid surgery with histologically confirmed results as the ‘gold standard’.Methods: A retrospective study in 102 patients (74 women a...