Endocrine Abstracts

Pseudohypoparathyroidism (PHP) type I includes two major subtypes, Ia and Ib. About 70% of Ia patients, characterized by Albright hereditary osteodystrophy and multihormone resistance (PTH/TSH/GHRH/gonadotropins), carry point mutations in GNAS exons encoding Gsα. About 60% of Ib patients, with hormone resistance limited to PTH and TSH, have methylation defects within GNAS locus (sporadic or genetic-based). Recently, methylation defects were detected in pts with Ia phenoty...

The two main subtypes of pseudohypoparathyroidism (PHP), PHP-Ia and -Ib, are caused by mutations in GNAS exons 1–13 and methylation defects in the imprinted GNAS cluster, respectively. PHP-Ia patients show Albright hereditary osteodystrophy (AHO) and resistance toward multiple hormones (PTH/TSH/GHRH/gonadotropins), whereas PHP-Ib patients classically display hormone resistance limited to PTH and TSH. Incoming data suggest that the two diseases share more genetic and clini...

In our previous investigation on microRNAs expression pattern in parathyroid carcinomas (Ca), we detected the over-expression of microRNAs belonging to C19MC, the largest human cluster on chromosome 19q13.41. In the present study, the analysis of the expression of selected C19MC and the closely distal MIR371-3 clusters microRNAs (MIR512-3p, MIR517C, MIR520H and MIR372) was extended to 11 Ca, 24 adenomas (Ad) and 6 normal glands. The four microRNAs was expressed in 11% of parat...