Endocrine Abstracts

Pseudohypoparathyroidism (PHP) defines a group of disorders characterized by resistance to PTH. They are classified in type Ia, Ib, Ic and type II according to their clinical and biological characteristics. PHP-Ia is caused by heterozygous mutations in the GNAS1 gene, encoding the alpha subunit of protein Gs. The aim of our study was to describe the diagnostic role of GNAS1 mutation screening in a large group of patients, and to define the intrafamilial transmiss...

Enlarged vestibular aqueduct (EVA) is the most common malformation of inner ear associated with sensorineural hearing loss. It can either be found in nonsyndromic or in syndromic forms of hearing loss, such as Pendred syndrome (PS). In PS, sensorineural deafness is associated with thyroid abnormalities: goitre and iodine organification defect detected with perchlorate discharge test. Mutations in SLC26A4 (PDS) gene cause PS and can also be found in a proportion of patients pre...