Searchable abstracts of presentations at key conferences in endocrinology

ea0037oc12.3 | Pituitary – Clinical | ECE2015

The genetic causes of pituitary gigantism

Rostomyan Liliya , Daly Adrian , Petrossians Patrick , Trivellin Giampaolo , Shah Nalini , Mantovani Giovanna , Neggers Sebastian , Castermans Emilie , Caberg Jean-Hubert , Chanson Philippe , Zacharieva Sabina , Naves Luciana , Beckers Albert

Increased secretion of GH results in gigantism in children/adolescents and in acromegaly in adults; the relative roles of the various genetic causes of acromegaly and gigantism are still unclear. To analyse the genetic causes and inherited/familial features in patients with pituitary gigantism, we studied a large international cohort. Genetic or inherited characteristics were observed in 39% of patients and included familial isolated pituitary adenomas (FIPA; n=28), M...

ea0032p845 | Pituitary – Clinical (<emphasis role="italic">Generously supported by IPSEN</emphasis>) | ECE2013

Pasireotide LAR and octreotide LAR maintain inhibition of GH and IGF1 in patients with acromegaly: 12-month extension phase of a randomized, double-blind, multicenter, phase III study

Sheppard Michael , Bronstein Marcello , Freda Pamela , Serri Omar , De Marinis Laura , Naves Luciana , Rozhinskaya Liudmila , Hermosillo Resendiz Karina , Ruffin Matthieu , Asubonteng Kobby , Colao Annamaria

Introduction: Pasireotide LAR was significantly superior to octreotide LAR at providing biochemical control in a 12-month trial in 358 medically naïve patients with acromegaly. Patients with clinical benefit or GH <2.5 μg/l and IGF1≤ULN could continue therapy in the extension study.Methods: Patients entering the extension (pasireotide LAR, n=74; octreotide LAR, n=46) were followed up to month 26 (core plus extension)...

ea0022oc3.6 | Pituitary | ECE2010

Young patients with sporadic macroadenomas as target population for AIP mutations screening

Tichomirowa Maria , Barlier Anne , Daly Adrian , Jaffrain-Rea Marie-Lise , Cozzi Renato , Yaneva Maria , Naves Luciana , Ronchi Christina , Sievers Caroline , Maiter Dominique , Montanana Carmen Fajardo , Zacharieva Sabine , Beckers Albert

Methods: We undertook an assessment of patients which were diagnosed with or had their first symptoms of pituitary tumor before the age of 30 and had tumor diameter more than 1 cm without familial history of pituitary adenomas. In patients that consented to genetic analysis, germline mutations in the AIP gene were sought.Results: The study population consisted of 164 patients (61 prolactinomas, 84 somatotropinomas, 16 non-secreting tumors, two pat...

ea0016p454 | Neuroendocrinology | ECE2008

Aryl hydrocarbon receptor interacting protein (AIP) expression in human pituitary adenomas

Jaffrain-Rea Marie-Lise , Spilioti Cristina , Vanbellinghen Jean-Francois , Daly Adrian , Gargano Donatella , D'Innocenzo Emanuela , Giangaspero Felice , Tichomirowa Maria , Esposito Vincenzo , Ventura Luca , Naves Luciana , Alesse Edoardo , Beckers Albert

Background: Germline AIP mutations confer a predisposition to pituitary adenomas (PA), usually in the setting of familial isolated pituitary adenomas (FIPA); AIP mutations account for 50% of familial acromegaly. AIP-related PA are GH, PRL-secreting or non-secreting. Little is known about AIP expression in PA. Although the prevalence is low, identifying AIP mutations in apparently sporadic PA is important for studying at-risk relatives. Pre-screening criteria would help select ...

ea0037oc12.5 | Pituitary – Clinical | ECE2015

The clinical characteristics of X-linked acro-gigantism syndrome

Daly Adrian , Trivellin Giampaolo , Rostomyan Liliya , Yuan Bo , Choong Catherine , Young Jacques , Mantovani Giovanna , Naves Luciana , Lysy Philippe , Cheetham Tim , Shah Nalini , Metzger Daniel , Zatelli Maria Chiara , Strebkova Natalia , Mazerkina Nadia , Collins Michael , Lodish Maya Beth , Lupski James , Stratakis Constantine , Beckers Albert

X-linked acro-gigantism (X-LAG) is a rare novel genomic syndrome of pituitary gigantism that has a typical onset within the first year of life in children of normal or even low birth weight. X-LAG patients have a microduplications on chromosome Xq26.3 that includes a gene GPR101, which is highly upregulated in pituitary tumor tissue of affected patients. We performed a study of all 18 known X-LAG syndrome patients currently in the NICHD-University of Liège databa...

ea0032p846 | Pituitary – Clinical (<emphasis role="italic">Generously supported by IPSEN</emphasis>) | ECE2013

Characteristics of patients with pituitary gigantism: results of an international study

Rostomyan Liliya , Daly Adrian F. , Tichomirowa Maria , Naves Luciana A. , Shah Nalini , Chanson Philippe , Zacharieva Sabina , Stratskis Constantine A , Neggers Sebastian , Holdaway Ian , Stalla Gunter K. , Pronin Vyacheslav , Maiter Dominique , Bertherat Jerome , Colao Annamaria , Ilovaiskaya Irena , Ferone Diego , Zacharin Margaret , Salvatori Roberto , Beckers Albert

Aim: To analyse a large series of patients with pituitary gigantism.Materials and methods: We included in this multicentre study 158 patients (129 males) with pituitary adenoma (PA) or hyperplasia and current/previous abnormal, excessively rapid growth velocity for age or a final height greater than 2 SD above normal for their population. Data of patients were systematically recorded in case report forms.Results: The...