Endocrine Abstracts

Objective: Pseudohypoparathyroidism type 1b (PHP-1b) is rare disorders resulting from genetic and epigenetic aberrations in the GNAS locus. PHP-1b usually defined by isolated renal resistance to PTH, is due to a maternal loss of GNAS exonA/B methylation, leading to decreased Gs’α expression in specific tissues. To clarify the usefulness of methylation specific multiplex ligation-dependent probe amplification (MS-MLPA), we evaluate the genetic and epigenetic changes o...