Searchable abstracts of presentations at key conferences in endocrinology

ea0011p480 | Endocrine tumours and neoplasia | ECE2006

An in-frame complex germline mutation in the juxtamembrane intracellular domain causing RET activation in familial medullary thyroid carcinoma

Fugazzola L , Cordella D , Muzza M , Alberti L , Travaglini P , Colombo P , Beck-Peccoz P , Persani L

Activating mutations of the RET proto-oncogene, encoding a tyrosine kinase receptor, are associated with inherited syndromes, MEN2A and MEN2B, and with both familial and sporadic medullary thyroid cancer (MTC). Single base-pair missense mutations in the extracellular cysteine-rich domain are responsible for the majority of MEN2A and familial MTC (FMTC) cases. Rarely, somatic deletions and germline duplications of variable segments of the gene have been reported in spora...

ea0029oc2.2 | Thyroid Clinical I | ICEECE2012

Identification and functional analysis of DUOX2 variants: biallelic mutations are associated with permanent congenital hypothyroidism

Muzza M. , Zamproni I. , Persani L. , Cortinovis F. , Vigone M. , Rabbiosi S. , Beccaria L. , Visser T. , Moreno J. , Weber G. , Fugazzola L.

Since the first identification of DUOX2 as an actor in the pathogenesis of congenital hypothyroidism (CH), several mutations have been associated with transient or permanent CH, with a high intra- and interfamilial phenotypic variability. In the present study, we report clinical and molecular studies of 7 unrelated children and 2 couple of siblings affected with CH and partial iodide organification defect (PIOD).We identified nine novel and five previous...