Endocrine Abstracts

Introduction: MODY is a group of monogenic disorders contributing to about 1% of diabetes due to a primary defect in the function of the beta cells of the pancreas. Although increasingly recognised, it is often misdiagnosed as type 1 or Type 2 Diabetes Mellitus(T2DM). We describe 7 cases of MODY of which 6 were genetically confirmed.Case reports: Siblings with loss of function mutation of ABCC8 gen. 2 brothers were diagnosed to have diabetes at 15 and 12...

The aim: To evaluate the efficiency and safety of using closed loop systems in patients with type 1 DM living in Russia.Results: 88 respondents (or those legal representatives) with type 1 DM in insulin therapy by closed loop systems, members of Russian-speaking community, were included to the study. 90% of respondents living in Russia. All respondents using do-it-yourself artificial pancreas systems (DIYAPS): Loop (19.3%), Open APS (30.7%) and Andr...

Background: The function of the thyroid gland effects on obesity and comorbidities. It has been proven for bariatric surgery to be the most effective in obesity treatment.Aim: To evaluate the dynamics of body weight, thyroid status, leptin and insulin resistance in obese patients after bariatric surgery.Materials and methods: 78 obese patients were observed after bariatric surgery (sleeve gastrectomy – 46, gastric bypass &#82...

Autoimmune Addison’s disease (AAD) is an endocrine disease resulting from the immune system’s destruction of hormone producing cells in the adrenal cortex. Autoantibodies against the steroidogenic enzyme 21-hydroxylase (21OH) is the hallmark of this form, and found in about 85 percent of patients in European populations. Risk factors are both genetic and presumably environmental. Genes associated with AAD are MHC class II especially the DR locus, MHC class I and MIC-...

Primary Ovarian Insufficiency (POI) is an ovarian defect characterized by the premature depletion of ovarian follicles before 40 years and represents one major cause of female infertility. POI is a heterogeneous disease but, despite its idiopathic origin in most of patients, there is a strong genetic evidence, in particular for X chromosome-linked defects. BMP15 gene maps to Xp11.2 within a Turner locus critical for ovarian function and mutations in this gene have been found i...

Medial calcification is a major cause of premature cardiovascular mortality in chronic kidney disease. Vascular smooth muscle cells (VSMC) play a key role in this process and studies have suggested a protective role for vitamin D. The exact mechanism for this is unclear but local synthesis of 1,25-dihydroxyvitamin D (1,25D) may be important. Production of 1,25D from 25-hydroxvitamin D (25D) is catalyzed by 25-hydroxyvitamin D-1α-hydroxylase (1α-OHase). 1,25D is metab...

Aim: To minimize the duration of vitamin-D insufficiency, current treatment regimes are initiated with an oral bolus dose of cholecalciferol. We have previously developed an algorithm (# Dekristol caps/Vigantol ml =(80 nmol/l – initial [s-25-OH-d-vit])/7 nmol/l) for determining the dosage of this bolus, aimed at reaching a serum 25-OH vitamin-D of 80 nmol/l. Our main aim was to investigate the accuracy of this algorithm.Materials: A retrospective st...

Introduction: Vitamin D deficiency is a common disorder and may manifest as a musculoskeletal, neurological, mental disorder or neoplastic disease.Case report: A 47 year old woman of Caucasian origin suffered from back, muscle, bone pain and severe depression for 8 years. She was ineffectively treated at the departments of Neurology, Psychiatry, Pain Clinic several times a year. Brain, bone CT, internal ultrasound, routine biochemistry analyses were norm...

Neurofibromatosis type 1 is an autosomal dominant genetic disorder that results from loss of function of the neurofibromin gene, leading to failure of a tumor suppressor mechanism. Usually characterized by ‘café-au-lait’ spots, cutaneous neurofibromas, and a predisposition for tumorigenesis occurring in childhood, NF1 can have variable clinical expression, with ‘mildly symptomatic’ cases eluding diagnosis until adulthood.A 53-yea...

Introduction: Fetal goiter is a rare condition. The incidence of goitrous hypothyroidism is 1/30 000–50 000 live births. We describe a case of antenatal fetal goiter that vanished upon delivery and was not detected in the newborn. The case report is followed by a discussion wherein we review the literature on thyroid problems in pregnancy and management of fetal goiter.Case report: A 27-year-old known hypothyroid woman with bichorial biamniotic preg...