Searchable abstracts of presentations at key conferences in endocrinology

ea0016p693 | Thyroid | ECE2008

Effects of 8-Cl-cAMP on growth and apoptotic process in poorly differentiated thyroid cancer cell lines

Lucchi Simona , de Filippis Tiziana , Calebiro Davide , Porazzi Patrizia , Spada Anna , Persani Luca

Tools that are highly effective in the treatment of differentiated thyroid cancer (DTC) loose their therapeutic potentials in poorly differentiated tumors. The synthetic analog 8-Cl-cAMP has been known to have an antiproliferative effect in a variety of cancer cells and is tested as antineoplastic agent in clinical trials. The signaling mechanisms that govern the 8-Cl-cAMP-induced growth inhibition are still uncertain and data in thyroid neoplasia are lacking. Therefore, we te...

ea0084op-08-39 | Oral Session 8: Basic 2 | ETA2022

Stochastic epigenetic mutations as possible explanation for phenotypical discordance among twins with congenital hypothyroidism

Muzza Marina , Gentilini Davide , de Filippis Tiziana , Calzari Luciano , Cristina Vigone Maria , Weber Giovanna , Cassio Alessandra , Olivieri Antonella , Persani Luca

Congenital Hypothyroidism (CH) is the most common congenital endocrine disease and avoidable cause of severe mental retardation. The CH pathogenesis may include the contribution of genetic and environmental factors. However, causal mutations have been found in a minority of cases. Moreover, the elevated frequency of discordance for CH phenotype between monozygotic (MZ) twins suggests the involvement of non-Mendelian mechanisms. Aim of this study was to investigate the role of ...

ea0016p698 | Thyroid | ECE2008

Absence of sonic hedgehog mutations in a large cohort of children with thyroid dysgenesis

Muzza Marina , de Filippis Tiziana , Gastaldi Roberto , Weber Giovanna , Lorini Renata , Beck-Peccoz Paolo , Persani Luca , Fugazzola Laura

Thyroid dysgenesis accounts for 75% of all cases of congenital hypothyroidism (CH), and includes thyroid agenesis or hemiagenesis, thyroid hypoplasia, and thyroid ectopy. Thyroid transcription factors TTF-1, TTF-2 and Pax-8, which are involved in the development of the thyroid gland and its normal migration, have been indicated as the best candidate genes but have been found to be mutated in a minority of cases. Sonic Hedgehog (Shh) protein is involved in several key events du...

ea0022p641 | Neuroendocrinology and Pituitary (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Heterogeneous origin of idiopathic isolated central hypothyroidism

Bonomi Marco , Libri Domenico Vladimiro , De Filippis Tiziana , Maggi Mario , Pilotta Alba , De Bellis Annamaria , Salvatoni Alessandro , Buzi Fabio , Beck-Peccoz Paolo , Nespoli Luigi , Persani Luca

Isolated central hypothyroidism (ICH) is a rare disease whose pathogenesis is so far linked to germinal mutations of TSHβ (several cases) or TRH receptor (TRHR) genes (only two cases). Here, we report the studies performed to elucidate the pathogenesis of idiopathic ICH in five cases (two men, three women) with low/normal TSH levels and low freeT4 levels (3–8 pmol/l). One male, negative at neonatal TSH screening, showed signs of severe hypothyroidism at 44...