Endocrine Abstracts

Introduction: A unique variant of familial glucocorticoid deficiency (FGD) exists in the Irish travelling community, a genetically isolated population with high levels of consanguinity. Affected children develop hypocortisolaemia and raised ACTH but retain normal renin and aldosterone levels. Children also have short stature, evidence of increased chromosomal breakage and natural killer cell deficiency.Methods: We sought areas of homozygosity common to a...

The management of metastatic differentiated thyroid carcinoma included until recently the use of therapeutic 131I, radiotherapy and in specific cases chemotherapy. However, recently new agents entered in the management of differentiated metastatic thyroid carcinoma which aim at specific cell receptors and inhibit the growth of the carcinoma in a specific and targeted way.The aim was to present the experience of the use of the receptor tyrosine...

Differentiated thyroid carcinoma represents a small percentage of human carcinomas. However, it is the commonest endocrine neoplasm and if diagnosed and treated properly does not affect the long-term survival of the patients.Aim: The aim was to study differentiated thyroid carcinoma affecting young adults.Patients and methods: All patients presenting with thyroid carcinoma to the department from 01.01.2002 to 31.12.2008 were review...

Medullary thyroid carcinoma is an uncommon malignancy of hereditary and sporadic presentation. Mutations in the RET-protooncogene are involved in the pathogenesis of >50% of the sporadic cases. Currently, there is no effective treatment for metastatic medullary thyroid carcinoma. The aim was to present a case of metastatic medullary thyroid carcinoma that was treated by the administration of sorafenib, a multiple kinase inhibitor.A patient, female ag...

Well differentiated thyroid carcinoma is associated with prolonged survival in terms of decades and anaplastic carcinoma is associated with survival in months. Intermediate malignancy with a more guarded prognosis is also known to exist.The aim was to describe the case of a patient with a mixed papillary, poorly differentiated and anaplastic thyroid carcinoma.A female patient, aged 73 years presented with a multinodular goiter and ...

IntroductionShort stature (SS) assessment includes the documentation of growth hormone (GH) secretion via GH stimulation tests.ObjectivesTo study retrospectively GH stimulation test results among Greek children with SS and investigate differences among GH deficient (GHD) children vs idiopathic short stature (ISS).MethodsData were collected retrospectively from 190...

Background: Previous research suggests an association between specific genetic variations and interindividual variability in response to treatment with glucagon-like receptor agonists (GLP-1 RAs) in patients with type 2 diabetes mellitus (T2DM). We aimed to evaluate the role of CTRB1/2 rs7202877 (T>G) polymorphism in glycemic control and weight loss response to liraglutide among Greek patients with T2DM and to identify clinical factors related to prediction of res...

Background: Infection with the human immunodeficiency virus (HIV) predisposes to endocrine disorders, manifesting as a metabolic phenotype that affects the entire adipose-musculoskeletal unit (AMS). The present cross-sectional study aimed to investigate differences in irisin and adiponectin concentrations between people living with HIV and healthy controls, as well as to explore potential correlations between the levels of the aforementioned adipokines and markers of calcium h...

Introduction: Immune mediated cases of severe insulin resistant diabetes are very rare. We report responses to immunosuppression with rituximab in two patients.Case 1: A 31 year old black African female, BMI 22.84 kg/m², was referred with new onset diabetes, diagnosed shortly following a miscarriage. She had weight loss, acanthosis nigricans, nocturnal hypoglycaemia and severe hyperandrogenism . She was on an insulin pump and required >1000 units in...

Introduction: Graves’ disease during pregnancy may cause maternal or neonatal complications, including arrhythmia, thyroid storm, congenital anomalies and neonatal thyroid dysfunction (TD). The optimal timing and frequency of TRAb measurement in pregnant women with a history of TD, and whether fetal monitoring could be limited to those with a strongly positive TRAb, is unclear.Methods: Retrospective case note review of women with elevated TRAb (>1 i...