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CONCLUSIONS Our data further confirm the molecular and clinical overlap among these disorders and highlight the complexity in performing an accurate diagnosis of PHP, as well as the pivotal role of the cAMP pathway in the development of the AHO phenotype. INTRODUCTION Pseudohypoparathyroidism (PHP) is a heterogeneous group of rare genetic metabolic disorders due to molecular defects at the GNAS locus, that encodes also for the α-subunit of the stimulatory G protein (Gsα), causing end-organ resistance to the actions of PTH. The classification of the different subtypes of PHP is based on the presence of specific somatic and developmental abnormalities, referred to as Albright hereditary osteodystrophy (AHO), and the resistance to other hormones acting via GPCRs. Recently, mutations in genes encoding proteins crucial for cAMP-mediated signalling different from Gsα and deletions of chromosome 2q37.2 have been detected in a small subset of patients with PHP with no GNAS defects, showing a phenotypic overlap with Acrodysostosis (ACRDYS) and brachydactyly-mental retardation syndrome (BDMR), also called AHO-like syndrome. Despite the high detection rate of genetic and epigenetic defects by currently available molecular approaches, about 30% of PHP patients still lack a molecular diagnosis, hence the need to screen patients negative for GNAS genetic or epigenetic defects also for chromosomal regions and genes associated to diseases that undergo differential diagnosis with PHP.

endocrine abstracts

Screening of genes involved in cAMP-mediated signalling in a large Italian series of patients affected with Albright hereditary osteodystrophy and/or Pseudohypoparathyroidism