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 ▲]

Prevalence and prediction of gastric mucosal abnormalities in a prospective series of 50 patients with graves-Basedow disease

Poster (2011)

Het belang van dosisoptimalisatie van analogen van somatostatine in acromegalie

in Andrologic (2011), 7(4),

Faut-il rechercher des anomalies génétiques constitutionnelles des gènes AIP et MEN1 chez un sujet jeune atteint d'adénome hypophysaire isolé sporadique ?

in Annales d'Endocrinologie - 28ème congrès de la société Française d'Endocrinologie (2011)

Adjuvant MIBGI131 therapy in a young patients with aggressive paraganglioma

in Annales d'Endocrinologie - 28ème congrès de la société Française d'Endocrinologie (2011)

Elévation des kisspeptines plasmatiques chez les hommes obèses avec hypogonadisme acquis et chez les hommes avec hypogonadisme congénital : Etude pilote des modifications plasmatiques des kisspeptines avant et après administration de hCG et testostérone

in Annales d'Endocrinologie - 28ème congrès de la société Française d'Endocrinologie (2011)

Intérêt d'une augmentation de dose des analogues de la somatostatine dans l'acromégalie

in Andrologic (2011), 7(4),

The Thyro-gastric syndrome : its prevalence, clinical, pathological and predictive factors in a prospective series of 360 patients with Hashimoto's Thyroiditis

in Abstract book - 21st Meeting of the Belgian Endocrine Society (2011)

What to do with a pituitary incidentaloma ?

in Expert Review of Endocrinology & Metabolism (2011)

Impact of two novel mutations of calcium sensing receptor (CaSR) gene on calcium metabolism : two clinical case reports

in Endocrine Abstracts - 13th European Congress of Endocrinology (2011)