Searchable abstracts of presentations at key conferences in endocrinology

ea0081ep646 | Pituitary and Neuroendocrinology | ECE2022

A clinical case of hypogonadism and anosmia associated with a new mutation of the KAL1/ANOS1 gene: a preliminary report

Del Prete Michela , Sacco Gianleone Di , Bonomi Marco , Vignati Federico , Muratori Fabrizio , Persani Luca

Introduction: Kallmann syndrome (KS) is a genetic condition characterized by the association of anosmia or hyposmia and GnRH deficiency resulting in congenital hypogonadotropic hypogonadism (CHH). Different genes can be implicated in KS, and the most frequent allelic variant occurs in the KAL1/ANOS1 gene in the X-linked form. Differential diagnosis is often made with other rare genetic diseases as CHARGE syndrome (CS) that includes hypogonadism, hyposmia and several organ defe...

ea0016p733 | Thyroid | ECE2008

The role of pentagastrin stimulated calcitonin in nodular thyroid disease: will we be able to minimize false positive results?

Grossrubatscher Erika , Ciaramella Paolo Dalino , Carioni Emanuela , Cozzi Renato , Dallabonzana Daniela , Muratori Fabrizio , Oppizzi Giuseppe , Riolo Angela , Verde Giuseppe , Boniardi Marco , Pugliese Raffaele , Rossetti Ornella , Burla Teresa , Loli Paola

An increase in basal and Pentagastrin (Pg) stimulated calcitonin (CT) concentration is a specific feature of medullary thyroid carcinoma (MTC). Routine basal CT measurement in nodular thyroid diseases is controversial. Pg stimulation is expected to increase the basal CT specificity in MTC screening, although false positive responses in patients without MTC have been reported.Aim: To report the diagnostic accuracy of Pg-stimulated CT in surgically treated...