Familial acromegaly (FA) is a rare disease with less than 150 cases published. For its diagnosis (FA), two or more cases of acromegaly in the same family and the absence of MEN1 and/or Carney syndrome are required. FA is in the familial isolated pituitary adenomas (FIPA) group although its genetic condition is still under investigation.
The index case is an asymptomatic 43-year-old woman with a 4mm pituitary micro-adenoma. There were not acromegaly signs/symptoms, IGF-1 849.84 ng/ml and a glucose tolerance test with GH values: 21.4, 6.97, 2.11, 0.96, 0.47 ng/ml. Other hypophysis functions were normal. Genetic study for MEN1 was negative. She was operated in 2004 with an inmuno-hystologic study positive for GH, ACTH y PRL. She is still disease-free at the present time. Her father was diagnosed of a pituitary GH-secreting macro-adenoma (20×22 mm) in 1995. He had acromegalic phenotypic changes, basal GH: 20 ng/ml and post-glucose load GH level, 21 ng/ml. He died of a cerebrovascular accident before other diagnostic or therapeutic interventions were performed. Index case took part in the FIPA International Multicentre Study. The aryl hydrocarbon receptor interacting protein (AIP) gen mutations were negative for the more than 10 described mutations (also negative in 50% of FA and 85% in FIPA). It was also negative for the other 34 relatives (1st, 2nd, 3rd and 4th degree relatives in four different generations). All signed the informed consent form. A family tree was done of the three previous generations and, demographic and anthropometric data, GH and IGF-1 levels and a clinical symptoms questionnaire were collected. Several asymptomatic relatives with abnormal basal GH and IGF-1 values or height above 97% CI are still in the study. We describe a new family that meets the criteria of familial acromegaly in the FIPA group. FIPA would reach in the future a new clinical entity in the endocrine tumours classification. However, a more characteristic genetic pattern needs to be identified to be used as screening tool in potential FA.
03 - 07 May 2008
European Society of Endocrinology