ESPE Abstracts

Purpose: Multiple Endocrine Neoplasia type 2 (MEN2) affects patients with RET proto-oncogene mutations. This cohort study refer to patients who were diagnosed with familial medullary thyroid carcinoma (MTC) and underwent RET genetic testing in Cyprus between years 2002 and 2017.Methods and Patients: Forty patients underwent RET testing by Sanger sequencing of exons 10–11 and 13–16. Genotyping with STR genetic markers ...

Background/Aim: Maternal primary adrenal insufficiency, has been infrequently described during pregnancy, due to its rarity. Based on the existing literature, maternal hormone deficiency influences pregnancy and has an impact on mother and fetus/neonate, with only a few studies emphasizing on the respective outcomes. The aim of this systematic review and meta-analysis was to evaluate the impact of maternal corticosteroid deficiency during pregnancy on the fetu...

A female child born from non consanguineous parents of Pakistani origin presented with congenital heart anomaly at prenatal ultrasound and confirmed at birth, with type B aortic arch interruption, right-sided aortic arch, wide ventricular and atrium septum defects, which required repeated surgical corrections during the first 9 months of life. The ultrasound also reported absence of the thymus. Suspecting Di Deorge Syndrome, a fluorescent in situ hybridization (FISH) ...

Type 1 diabetes (T1D) hits about 1:300 with rising incidence affecting increasingly younger children. Population screening at ages 2-6yrs with T1D associated autoantibodies (T1Ab) has been recently proven sensitive. While potential treatments to prevent or delay T1D are currently in development, a population based cost-effective preventive strategy is still lacking. Hence, 2000IU cholecalciferol daily in a large birth cohort study published in 2001 reduced by 80% the risk of T...

Background: There are studies supporting the seasonality of diabetes according to date of diagnosis and date of birth, with most T1D children being diagnosed in fall and winter and most of them been born in the same period. That is in concordance with previously published data from 1978 to 2008 in our country.Objective and hypotheses: To assess whether there is a seasonal variation of diabetes onset according to date of diagnosis and date of birth of inc...

Background: Diabetic Ketoacidosis (DKA) in newly diagnosed children with Type 1 Diabetes (T1D) has been associated in previous studies with several factors, such as age or season of diagnosis.Objective and hypotheses: The aim of the present study was to assess the impact of age, gender, birth order and seasonality in DKA occurrence in newly diagnosed T1D pediatric patients.Method: Data of children aged 0–14 years newly diagnos...

Introduction: Carney Complex is a rare genetic disorder inherited in an autosomal dominant manner or may occur sporadically due to de novo mutations. It is characterized by the presence of cardiac myxomas, psammomatous melanotic schwannomas, skin pigmentation (blue nevi, lentigines) and multiple endocrine and non- endocrine tumors. It is caused by inactivating mutations or large deletions of the PRKAR1A gene. Management of the syndrome involves ongoing surveil...

Background: Mutations in the RET gene have been described in subjects with multiple endocrine neoplasia Type 2 (MEN 2A). MEN 2A is a rare autosomal dominant disorder characterized by tumors of the C cells of the thyroid, adrenal medulla and parathyroid glands. Patients develop either C-cell hyperplasia or medullary thyroid cancer, pheochromocytoma, and in some cases hyperparathyroidism.Objective/Method: To descr...

Background: Electromagnetic field (EMF) exposure has been considered a potential environmental toxicant, which may influence endocrine and other functions, while population awareness remains limited. In an earlier study, we demonstrated that EMF alters the hypothalamic-pituitary-adrenal axis in children using a 3G mobile telephone.Aim: To screen and compare the motives, knowledge and status of electromagnetic field expos...

This present study investigates the impact of a common environmental hazard, the radiofrequency fields (RF), such as those regarding cell phones, cell phone base stations, wi-fi, portable phones (DECT), etc., as close to the body sources of exposure, on endocrine function. This is of importance, particularly for developing children, that have been and are exposed to this potential hazard. We performed analyses on endocrine assessments regarding stress, thyroid hand reproductiv...