Endocrine Abstracts

Background: Overt newly diagnosed hyperthyroidism is frequently associated with mild anemia. However, there are limited data on long term evolution under methimazole treatment. Our aim was to study the baseline characteristics and evolution of anemia in the hyperthyroidism setting.Methods: We retrospectively assessed 58 consecutive patients [46 (79.3%) women] presenting with newly diagnosed overt thyrotoxicosis (43 Graves disease, 9 toxic nodular goiters...

Introduction: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder that is caused by mutations of genes involved with adrenal steroidogenesis. The mutations mostly occur in the 21-hydroxylase gene and rarely in the 3β-hydroxysteroid dehydrogenase gene or 11β-hydroxylase genes. Our aim is to present a series of 3 cases of patients with late onset CAH, probably due to 21-hydroxylase deficiency, after 50 years of age.Case series...

Introduction: RET proto-oncogene is situated on chromosome 10 and encodes a tyrosine kinase receptor. A germline mutation of RET leads to the appearance of MEN 2 syndrome or familial medullary thyroid carcinoma (MTC). One of the most common germline mutation occurs in codon 634. Pheochromocytoma penetrance for codon 634 mutation was demonstrated to increase with age up to 88% by age 77 years.Aim: To present two familial cases of RET mutation illustrating...