Searchable abstracts of presentations at key conferences in endocrinology

ea0016s20.5 | Translational highlights | ECE2008

V206M polymorphism of the SLC26A6 gene encoding a Cl-oxalate transporter in patients with primary hyperparathyroidism and kidney stones

Corbetta Sabrina , Eller-Vainicher Cristina , Frigerio Marcello , Valaperta Rea , Costa Elena , Vicentini Leonardo , Beck-Peccoz Paolo , Spada Anna

Primary hyperparathyroidism (PHPT) is associated with increased risk of kidney stones. Hypercalciuria and urine oxalate excretion are considered risk factors for urolithiasis in PHPT stone-formers. Recently, the anion-exchanger SLC26A6 has been involved in the oxalate metabolism. Slc26a6-null mice showed hyperoxalemia, hyperoxaluria resulting in dramatic calcium oxalate urolithiasis. We tested the hypothesis that urine oxalate excretion in PHPT patients might be modulat...

ea0022p782 | Thyroid | ECE2010

Mild hypothyroidism in young patients with congenital heart defects: association with 22q11.2 microdeletion

Elena Passeri , Marcello Frigerio , Tiziana De Filippis , Rea Valaperta , Elena Costa , Laura Fugazzola , Patrizia Porazzi , Davide Calebiro , Carmelo Arcidiacono , Mario Carminati , Bruno Ambrosi , Luca Persani , Sabrina Corbetta

Congenital hypothyroidism (CH) is frequently associated with congenital heart defects (CHD). Thyroid defects may have a higher prevalence in children with CHD as embryonic thyroid gland share nuclear transcription factors with heart and great vessels during organogenesis. We investigated thyroid function in 325 children (165 M/160 F, aged 0.2–15.4 years), affected by CHD. Patients with Down syndrome, recent administration of iodinated contrast agents, low T3 sy...

ea0026p56 | Endocrine tumours and neoplasia | ECE2011

The T-box transcription factor TBX1, the candidate gene of 22q11.2 microdeletion/DiGeorge syndrome, is involved in human parathyroid tumorigenesis

Verdelli C , Donnangelo A , Vaira V , Meregalli M , Belicchi M , Guarneri V , Scillitani A , Vicentini L , Cetani Filomena , Ferrero Stefano , Frigerio Marcello , Costa Elena , Ambrosi Bruno , Torrente Yvan , Bosari Silvano , Spada Anna , Corbetta Sabrina

The embryonic transcription factor TBX1 plays a critical role in cell differentiation during organogenesis of the parathyroid glands. Here we demonstrated that TBX1 mRNA and protein were detected in human adult normal parathyroid tissues (n=3). Immunostaining showed that TBX1 protein was expressed in endothelial CD31+, alfa-SMA+ cells. By contrast, TBX1 mRNA and protein was expressed at higher levels in parathyroid typical adenomas (n=23), where TBX1 staining was...