ECE2015 Oral Communications Pituitary – Clinical (5 abstracts)
The genetic causes of pituitary gigantism
Liliya Rostomyan 1 , Adrian Daly 1 , Patrick Petrossians 1 , Giampaolo Trivellin 2 , Nalini Shah 3 , Giovanna Mantovani 8 , Sebastian Neggers 4 , Emilie Castermans 7 , Jean-Hubert Caberg 9 , Philippe Chanson 6 , Sabina Zacharieva 5 , Luciana Naves 10 & Albert Beckers 1
1Department of Endocrinology, CHU de Liège, University of Liège, Liège, Belgium; 2NIH/NICHD, DEB, SEGEN, Bethesda, Maryland, USA; 3Department of Endocrinology, King Edward Memorial Hospital, Mumbai, India; 4Department of Endocrinology, Erasmus Medical Center, Rotterdam, The Netherlands; 5Department of Endocrinology, Sofia Medical University, Sofia, Bulgaria; 6Department of Endocrinology, Le Kermlin‐Bicetre, Paris, France; 7Department of Endocrinology, Hopsital Universitario La Paz, Madrid, Spain; 8Department of Endocrinology, Fondazione Ospedale Maggiore Policlinico IRCCS, Milan, Italy; 9Department of Clinical Genetics, CHU de Liège, University of Liège, Liège, Belgium; 10Department of Endocrinology, University of Brasilia, Brasilia, Brazil.
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), McCune–Albright syndrome (n=7), Carney complex (n=2), and MEN1 (n=1). Germline mutations in the AIP gene were found in 31% of tested cases; a microduplication at Xq26.3 was detected in two kindreds and ten sporadic patients with a novel pediatric onset gigantism syndrome, termed X-linked acromegigantism (X-LAG). AIPmut positive patients were almost all males (95%), whereas X-linked acrogigantism group (X-LAG) consisted mostly of females (71%). AIPmut positive and X-LAG patients had significantly younger ages at first symptoms (13.5 and 1.5 years) and at diagnosis (16.8 and 3 years) than AIP negative patients (15 and 24 years respectively). Among non-X-LAG patients none had grown excessively before the age of 5 years. Pituitary lesions were usually macroadenomas and their size was not different in AIPmut, AIPwt, and X-LAG groups. All patients had marked hypersecretion of GH/IGF1. Prolactin co-secretion was more frequent in X-LAG than in AIPmut cases.
Conclusions: Syndromic or genetic features occurred in more than one third of patients with gigantism. Clinical presentation is affected by genetics of pituitary adenomas and AIP mutations are common. X-LAG syndrome explained most of cases with childhood gigantism.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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