The clinical and genetic characteristics of patients with gigantism

in Symposium "Perspectives in Endocrinology" - Congresses Highlights 2012: ECE Firenze, ENDO Houston, ESPE Leipzig, SFE Toulouse, IWMEN Liège (2013)

Erythropoiesis in acromegaly : effect of GH or IGF-1 ? Data from the LAS (Liege Acromegaly Survey)

in Journal für Klinische Endokrinologie und Stoffwechsel (2012, September), 5(3), 45

Age, GH and tumor size : the triangular relation in acromegaly. Data from the LAS (Liege Acromegaly Survey)

in Journal für Klinische Endokrinologie und Stoffwechsel (2012, September), 5(3), 43

The clinical and genetic characteristics of patients with gigantism

in Abstract Book - 13th International Workshop on Multiple Endocrine Neoplasia (2012, September)

El sindrome tiro-gastrico : screening en 410 pacientes atendidos pro patologia tiroidea

in Abstract book - 54 Congreso Sociedad Espanola de Endocrinologia y nutrition (2012, May 23)

The clinical and genetic characteristics of patients with gigantism

in Abstract book - Aspiring excellence : Pituitary expert forum (2012)

The Liege Acromegaly Survey (LAS) : A new software tool for the study of acromegaly

in Annales d'Endocrinologie (2012), 73

Long-term outcome and complication rates in patients with macroprolactinomas treated with different therapeutic approaches : a comparative study of 184 patients

in ENEA Munich - abstract book (2011, December)

High prevalence of AIP gene mutations following focused screening in young patients with sporadic pituitary macroadenomas.

in European Journal of Endocrinology (2011), 165(4), 509-15

BACKGROUND: Aryl hydrocarbon receptor interacting protein (AIP) mutations (AIPmut) cause aggressive pituitary adenomas in young patients, usually in the setting of familial isolated pituitary adenomas ... [more ▼]

BACKGROUND: Aryl hydrocarbon receptor interacting protein (AIP) mutations (AIPmut) cause aggressive pituitary adenomas in young patients, usually in the setting of familial isolated pituitary adenomas. The prevalence of AIPmut among sporadic pituitary adenoma patients appears to be low; studies have not addressed prevalence in the most clinically relevant population. Hence, we undertook an international, multicenter, prospective genetic, and clinical analysis at 21 tertiary referral endocrine departments. METHODS: We included 163 sporadic pituitary macroadenoma patients irrespective of clinical phenotype diagnosed at <30 years of age. RESULTS: Overall, 19/163 (11.7%) patients had germline AIPmut; a further nine patients had sequence changes of uncertain significance or polymorphisms. AIPmut were identified in 8/39 (20.5%) pediatric patients. Ten AIPmut were identified in 11/83 (13.3%) sporadic somatotropinoma patients, in 7/61 (11.5%) prolactinoma patients, and in 1/16 non-functioning pituitary adenoma patients. Large genetic deletions were not seen using multiplex ligation-dependent probe amplification. Familial screening was possible in the relatives of seven patients with AIPmut and carriers were found in six of the seven families. In total, pituitary adenomas were diagnosed in 2/21 AIPmut-screened carriers; both had asymptomatic microadenomas. CONCLUSION: Germline AIPmut occur in 11.7% of patients <30 years with sporadic pituitary macroadenomas and in 20.5% of pediatric patients. AIPmut mutation testing in this population should be considered in order to optimize clinical genetic investigation and management. [less ▲]

Impact of germline AIP mutations on tumor characteristics and Management in young acromegalic patients : results of an age-and tumor diameter matched cohort study

in Abstract book - Endo 2011 (2011)