Searchable abstracts of presentations at key conferences in endocrinology

ea0049gp236 | Thyroid Cancer & Thyroid Case Reports | ECE2017

A rare case of medullary thyroid cancer, mesothelioma and meningioma, due to APC and RASAL1 mutations

Lyssikatos Charalampos , Quezado Martha M , Faucz Fabio R , Angelousi Anna , Nasiri-Ansari Narjes , Stratakis Constantine A , Kassi Eva

Introduction: Patients with “mixed” phenotypes are common among patients with multiple endocrine and non-endocrine neoplasias. Their diagnoses do not fit a given pattern making ge netic counseling difficult and testing impossible to guide. Most of these patients end up getting genome-wide studies for the identification of any predisposing genetic defect. We present a rare case of a 57 year old female who presented clinically with medullary thyroid cancer (MTC), mesot...

ea0037s11.1 | Hot topics and IESP symposia | ECE2015

X-linked acro-gigantism (X-LAG): a new form of infant-onset pituitary gigantism

Trivellin Giampaolo , Daly Adrian F. , Faucz Fabio R. , Yuan Bo , Rostomyan Liliya , Larco Darwin O. , Bjelobaba Ivana , Leal Leticia F. , Schernthaner-Reiter Marie Helene , Dimopoulos Aggeliki , Chittiboina Prashant , Choong Catherine S. , Kamenicky Peter , Wu T. John , Costanzi Stefano , Feldman Benjamin , Stojilkovic Stanko S. , Lupski James R. , Beckers Albert , Stratakis Constantine A.

Introduction: Pituitary gigantism is a rare disorder caused by GH-secreting lesions.Aim: We studied gigantism for genetic defects.Methods: We performed genome-wide analyses in 46 patients with gigantism and 248 patients with acromegaly.Results: We detected a novel microduplication at chromosome Xq26.3 in two unrelated kindreds and 13 sporadic cases de novo. All patients had disease onset before five ...

ea0035oc2.2 | Adrenal clinical | ECE2014

Constitutive activation of PRKACA in adrenal Cushing’s syndrome

Beuschlein Felix , Fassnacht Martin , Assie Guilaume , Calebiro Davide , Stratakis Constantine A. , Osswald Andrea , Ronchi Cristina L. , Wieland Thomas , Sbiera Silviu , Faucz Fabio R. , Schaak Katrin , Schmittfull Anett , Kisker Caroline , Diener Susanne , Meitinger Thomas , Lohse Martin J. , Reincke Martin , Bertherat Jerome , Strom Tim M. , Allolio Bruno

Background and Methods: Corticotropin-independent Cushing’s syndrome is caused by tumors or hyperplasia of the adrenal cortex. The molecular pathogenesis of cortisol producing adrenal adenomas is not well understood. Therefore, exome sequencing was performed in 10 cortisol-producing adenomas and recurrent mutations in candidate genes were evaluated in additional 171 patients with adrenocortical tumors. In addition, genome-wide copy number analysis was performed in 35 pati...