Endocrine Abstracts

Introduction: At present, only eight men with loss-of-function mutations in the CYP19A1 gene have been described. Here we report the genetic study of four adult men with undetectable serum estrogens, unfused epiphyses, eunuchoid skeletal proportions, continuing linear growth, tall stature, genu valgum, osteoporosis, obesity and achantosis nigricans. Patient 1 (26-years/182 cm) and 2 (28-years/187 cm) are from Turkey with a history of consanguinity. Patient 3 (44-years...

Introduction: Follicular thyroid carcinomas (FTC) are the second most common type of thyroid malignancy. Micro-RNAs (miRNAs) are a new class of small, noncoding RNAs whose expression is deregulated in many types of human cancers and may lend novel clues to FTC genesis. Pre-miR146a represents one of the most up-regulated miRNAs in papillary thyroid carcinomas (PTC) and a SNP (rs2910164), identified in pre-miR146a, contributes to genetic predisposition to PTC, but data on FTC ar...

Introduction: The mechanism underlying the development of follicular thyroid carcinoma (FTC), the second commonest thyroid tumor, is still unknown. An interesting hypothesis is that changes in the expression of multiple regulatory RNA (miR) genes may be a major mechanism in thyroid carcinogenesis. For example, several studies suggested that SNP rs2910164 in the pre-miR146a, a precursor of miR146a, might be correlated to papillary carcinoma. The aim of this study was the evalua...