Searchable abstracts of presentations at key conferences in endocrinology
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17th European Congress of Endocrinology

Oral Communications

Pituitary – Clinical

ea0037oc12.1 | Pituitary – Clinical | ECE2015

The Irish TSHoma study: a multicentre retrospective study

Pazderska Agnieszka , Cuesta Martin , Wallace Helen , Melvin Audrey , Gibney James , Agha Amar , O'Halloran Donal , Hunter Steven , Thompson Chris , Sherlock Mark

TSH-secreting pituitary adenomas (TSHomas) are rare. Previously, the reported prevalence was one case per million populations although this is probably an underestimate. A recently published study reported a prevalence of TSHomas in Sweden of 2.8/million inhabitants.Methods/design: Observational study conducted in four tertiary referral centres in Ireland. We retrospectively collected data on the prevalence, demographics, hormonal profile, tumour charact...

ea0037oc12.2 | Pituitary – Clinical | ECE2015

The ubiquitin-specific protease 8 gene is frequently mutated in adenomas causing Cushing's disease

Rivas Luis Gustavo Perez , Theodoropoulou Marily , Ferrau Francesco , Nusser Clara , Kawaguchi Kohei , Stratakis Constantine , Faucz Fabio Rueda , Wildemberg Luiz Eduardo , Assie Guillaume , Beschorner Rudi , Stalla Gunther , Buchfelder Michael , Popovic Vera , Honneger Jurgen , Bertherat Jerome , Gadelha Monica R , Beuschlein Felix , Komada Masayuki , Korbonits Marta , Reincke Martin

We have recently reported that somatic mutations in the ubiquitin-specific protease 8 (USP8) are present in corticotropinomas of patients with Cushing’s disease and that these mutations reduced the interaction with 14-3-3. Mutant USP8 exhibited higher deubiquitination activity and potentiated EGFR-induced POMC expression (Reincke et al., Nat Genet 2014). To further study the prevalence of these mutations, we have analyzed 134 ACTH-producing corticotropin...

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...

ea0037oc12.4 | Pituitary – Clinical | ECE2015

The changing faces of corticotroph-cell adenomas: the role of proconvertase 1/3

Faustini-Fustini Marco , Righi Alberto , Asioli Sofia , Morandi Luca , Zoli Matteo , Mazzatenta Diego , Frank Giorgio , Foschini Maria Pia

Introduction: The possible change in the pattern of hormonal secretion by pituitary tumours is a very intriguing issue indeed, notably in the case of corticotroph-cell adenomas.Methods/design: We retrospectively reviewed the records of 1259 consecutive endoscopic endonasal surgical procedures for pituitary adenomas from 1998 to 2013. Of these, 132 were ACTH-secreting adenomas associated with Cushing’s disease (CD) and 44 were silent corticotroph-cel...

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...