Endocrine Abstracts

Introduction: Multiple endocrine neoplasia type 2 (MEN2) and medullary thyroid carcinoma (MTC) are autosomal-dominant inherited diseases caused by germline mutations within the RET protooncogene. Until now, genetic testing for mutations of exon 10, 11, 13, 14, 15 and 16 was recommended for these patients (familial and sporadic cases) to identify disease-causing mutations. Because of a strong genotype–phenotype correlation in these diseases, early genetic testing of...

Introduction: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive diseases with increased adrenal androgens secretion from the adrenal cortex, characterized by simple virilizing and salt wasting forms. Deficiency of 21-hydroxylase, caused by mutations in the 21-hydroxylase gene (CYP21A2) is the most frequent CAH, accounting for more than 90 percent of CAH cases. Deficiency of 3 beta-Hydroxysteroid-Dehydrogenase Type II is caused by mutations in the <i...