Searchable abstracts of presentations at key conferences in endocrinology

ea0022oc1.5 | Diabetes and obesity | ECE2010

Role of PKA regulatory subunit R2B in murine and human adipocyte differentiation

Ermetici Federica , Peverelli Erika , Mantovani Giovanna , Corbetta Sabrina , Avagliano Laura , Bulfamante Gaetano , Beck-Peccoz Paolo , Spada Anna

PKA regulatory subunit 2B (R2B) is the most expressed in mouse adipose tissue, where it plays an important role in regulating energy balance. We previously demonstrated that R2B is the most abundant R subunit in human adult subcutaneous and visceral adipose tissues. We further showed that R2B expression and PKA activation are reduced in adipose tissues from obese as compared to non-obese subjects. Normal adipose tissue development and increases in fat mass associated with obes...

ea0022p263 | Developmental endocrinology | ECE2010

Gonadal structures in a fetus with complete androgen insensitivity syndrome and persistent Mullerian derivatives: comparison with the normal fetal development

Corbetta Sabrina , Marina Muzza , Laura Avagliano , Gaetano Bulfamante , Luigi Gaetti , Cristina Eller-Vainicher , Paolo Beck-Peccoz , Anna Spada

Androgens, by signaling through the androgen receptor (AR), mediate a wide range of male developmental processes. Complete androgen insensitivity syndrome (CAIS), a X-linked disorder caused by AR gene mutations, represents an in vivo model to study the role of androgens in sexual development. Here, we reported a case with CAIS at 20 weeks of gestational age harbouring a novel AR missense mutation (D767V), which was predicted to prevent androgen binding and...

ea0041gp115 | Endocrine Tumours | ECE2016

Loss of cells expressing the T-box transcription factor TBX1 might be associated with a quiescent phenotype in parathyroid tumours

Verdelli Chiara , Avagliano Laura , Ferrero Stefano , Guarnieri Vito , Cetani Filomena , Vicentini Leonardo , Beretta Edoardo , Scillitani Alfredo , Bulfamante Gaetano , Vaira Valentina , Corbetta Sabrina

Embryonic transcription factors have been involved in tumourigenesis. The transcription factor TBX1 regulates the embryonic parathyroid cells fate. Indeed, it has never been investigated in human adult parathyroids. Here, expression, function and regulation of the TBX1 gene were analyzed in adult normal and tumour parathyroid tissues. Immunohistochemistry identified 30–70% (mean±S.E.M, 52.0±7.3%) of cells expressing TBX1 at nuclear levels...

ea0032p525 | Endocrine tumours and neoplasia | ECE2013

Function and origin of tumour-associated fibroblasts (TAFs) in human parathyroid neoplasia

Verdelli Chiara , Avagliano Laura , Guarnieri Vito , Scillitani Alfredo , Passini Elena , Vicentini Leonardo , Steffano Giovan Battista , Spada Anna , Bulfamante Gaetano , Corbetta Sabrina

Tumour-associated fibroblasts (TAFs) are important players in tumour formation, growth, enhancement and metastasis. We firstly investigated the TAFs component in human parathyroid neoplasia from patients with primary hyperparathyroidism. Alpha-smooth muscle actin (alpha-SMA) has been used to identify activated TAFs (myofibroblasts). Culturing explants from parathyroid adenomas (PA, n=5), large spindle-shaped alpha-SMA+ cells outgrew from explants and the expression of...