Searchable abstracts of presentations at key conferences in endocrinology

ea0058p079 | Diabetes | BSPED2018

Maturity onset diabetes of the young (MODY): A report of 7 related and unrelated cases in a university hospital

Nambisan Aparna K R , Kapila Piyusha

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...

ea0070aep329 | Diabetes, Obesity, Metabolism and Nutrition | ECE2020

Experience of using insulin therapy with the closed loop method among patients with type 1 diabetes mellitus in Russia

Volkova Anna R , Chernaya Maria , Vlasova Ksenia A

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...

ea0070aep434 | Diabetes, Obesity, Metabolism and Nutrition | ECE2020

Thyroid stimulating hormone, insulin resistance and leptin in patients with obesity after bariatric surgery

Volkova Anna R. , Semikova Galina , Fishman Michael

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...

ea0029s39.3 | Adrenal insufficiency | ICEECE2012

New developments in the immunology of Addison’s disease

Husebye E. , Bratland E. , Hellesen R.

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-...

ea0029oc16.2 | Female Reproduction Clinical | ICEECE2012

The first missense mutation of BMP15 mature domain identified in a Chinese family with primary ovarian insufficiency causes defective production of the bioactive protein

Rossetti R. , Beccaria E. , Persani L.

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...

ea0029p209 | Calcium & Vitamin D metabolism | ICEECE2012

Expression of 25-hydroxyvitamin D3-1α-hydroxylase and 24-hydroxylase in human vascular smooth muscle cells

Lubczanska M. , Zehnder D. , Bland R.

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...

ea0029p253 | Calcium & Vitamin D metabolism | ICEECE2012

Treatment of vitamin D insufficiency with oral loading doses of cholecalciferol

Jansen R. Bo , Svendsen O. Lander

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...

ea0029p263 | Calcium & Vitamin D metabolism | ICEECE2012

Unrecognized severe vitamin D deficiency

Visockiene Z. , Juskiene R. , Augutiene L.

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...

ea0029p382 | Clinical case reports - Pituitary/Adrenal | ICEECE2012

Oligosymptomatic paraganglioma in the setting of neurofibromatosis type 1

Dobrescu R. , Jercalau S. , Badiu C.

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...

ea0029p403 | Clinical case reports - Thyroid/Others | ICEECE2012

A rare case of vanishing fetal goiter and role of colour doppler ultrasound in the diagnosis

Panchani R. , Saini A. , Varma T. , Tripathi S.

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...