Searchable abstracts of presentations at key conferences in endocrinology

ea0037gp.19.04 | Pituitary–Acromegaly | ECE2015

Molecular and pathological determinants of somatostatin analogue resistance: somatotropinomas in AIP mutated and X-LAG syndrome patients

Lee Misu , Daly Adrian , Rostomyan Liliya , Pellegata Natalia , Beckers Albert

Poor hormonal and tumour responses to somatostatin analogues (SSA) in acromegaly can occur although the aetiology is often unclear. Two genetic syndromes are associated with relative SSA resistance: acromegaly due to AIP mutations (AIPmut) and the newly described X-linked acrogigantism (X-LAG) syndrome due to chromosome Xq26.3 microduplications. We studied whether SSA resistance in these conditions was related to somatostatin receptor (SSTR) levels in tumour tissues. We studie...

ea0026p545 | Bone/calcium/Vitamin D | ECE2011

Some epidemiological aspects of primary hyperparathyroidism in Russia

Rostomyan Liliya , Mokrysheva Natalya , Mirnaya Svetlana , Kirdyankina Nataliya , Rozhinskaya Liudmila

Primary hyperparathyroidism (PHPT) is the third most frequent endocrine disorder and has a variable clinical presentation. Asymptomatic PHPT became the predominant form of the disease with increase of it’s incidence after the introduction of automated serum calcium measurement in North America and Europe. Data from Russia is lacking.Aim: To present the clinical profile of PHPT in Russia.Materials and methods: This retrospectiv...

ea0022p452 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Cushing’s disease as the first manifestation of familial multiple endocrine neoplasia syndrome type 1

Rostomyan Liliya , Mokrysheva Natalya , Tiulpakov Anatoly , Rozhinskaya Ludmila

MEN1 syndrome is an autosomal dominant inherited disease characterised by primary hyperparathyroidism in association with endocrine enteropancratic tumors and anterior pituitary adenomas. Tumours of the pituitary gland as the first manifestations of MEN1 are very rare in children.Clinical case report: A 13-year-old boy presented with clinical signs suggestive of Cushing’s syndrome. He had decreased growth rate, muscle weakness, headaches and truncal...

ea0032p527 | Endocrine tumours and neoplasia | ECE2013

The clinical characteristics of primary hyperparathyroidism (PHPT) in patients with multiple endocrine neoplasia (MEN) type 1

Rostomyan Liliya , Mokrysheva Nataliya , Tiulpakov Anatoly , Artemova Alla , Kirdyankina Nataliya , Rozhinskaya Liudmila

: Rarely PHPT could be a part of MEN 1 (2–4.5%). Little is known about clinical differences between MEN1 related and sporadic PHPT.Aim: To compare the clinical features of PHPT in MEN type 1 cases and sporadic PHPT.Materials and methods: Data were obtained in 442 patients: 62 sharing MEN1 phenotype (PHPT in association with pituitary adenomas and/or gastroenteropancreatic neuroendocrine tumors) (Group-I) and 380 with apparentl...

ea0081p419 | Pituitary and Neuroendocrinology | ECE2022

Obstructive sleep apnea syndrome (OSAS) in acromegaly: does the gender matter?

Pio Giacomo , Feola Tiziana , Rostomyan Liliya , Vitrani Giuseppe , Petrossians Patrick , Beckers Albert , Romigi Andrea , Jaffrain-Rea Marie-Lise

Obstructive sleep apnea syndrome (OSAS) is a frequent cardiovascular risk factor in acromegaly. We aimed to retrospectively evaluate sex-related differences in OSAS characteristics and indications of non-invasive ventilation.Patients and Methods: Thirty-nine adult patients (16 F, 23 M) from two European centers were studied by home sleep apnea test (HSAT) or polysomnography (PSG). OSA was defined by an apnea-hypopnea index (AHI) ≥5/h and analyzed a...

ea0041ep889 | Pituitary - Clinical | ECE2016

Combined treatment with octreotide LAR and pegvisomant in patients with gigantism – acromegaly: clinical evaluation and genetic screening

Rostomyan Liliya , Mangupli Ruth , Castermans Emilie , Caberg Jean-Hubert , Camperos Paul , Cuauro Elvia , Bours Vincent , Daly Adrian F , Beckers Albert

Pituitary gigantism is a rare condition caused by growth hormone secreting lesions, where treatment is usually challenging, especially in cases with genetic predisposition. Aim: We studied a gigantism cohort from Venezuela for genetic defects and their response to treatment. Subjects: 160 somatotropinoma patients were evaluated at the University hospital (from 1985–2015); eight (6M) were diagnosed with acrogigantism and underwent genetic analysis including aCGH for Xq26.3...

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...

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 ...

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...