Searchable abstracts of presentations at key conferences in endocrinology

ea0016p130 | Clinical cases | ECE2008

A fetus affected with a complete androgen insensitivity syndrome due to a novel mutation of AR and persistent Mullerian structures

Vainicher Cristina Eller , Muzza Marina , Gaetti Luigi , Fugazzola Laura , Bulfamante Gaetano , Spada Anna Maria

Complete androgen insensitivity syndrome (CAIS) is a rare X-linked disorder caused by androgen receptor gene (AR) mutations that result in complete impairment of genital virilisation. Usually CAIS patients, who have normal production of AMH by Sertoli Cells, do not show Mullerian derivatives, although the persistence of Mullerian duct derivatives up to now have been described in nine cases.Here, we report the case of a fetus aborted at 20 weeks for genit...

ea0035p81 | Bone and Osteoporosis | ECE2014

Factors associated with vertebral fractures in patients with primary hyperparathyroidism

Eller-Vainicher Cristina , Battista Claudia , Guarneri Vito , Palmieri Serena , Salcuni Antonio S , Guglielmi Giuseppe , Corbetta Sabrina , Minisola Salvatore , Spada Anna Maria , Hendy Geoffrey N , Cole David E C , Chiodini Iacopo , Scillitani Alfredo

Introduction: Risk of vertebral fracture (VFx) is in part independent of bone mineral density (BMD) in primary hyperparathyroidism (PHPT). The aim of this study was to examine whether other factors, including the genotype of common polymorphisms in the calcium-sensing receptor (CASR) gene, are associated with VFx.Patients and methods: In 266 Caucasian PHPT patients, serum calcium, phosphate, creatinine, total alkaline phosphatase, intact PTH, 25-hydroxyv...