Genetics of Pituitary Adenomas

Scientific conference (2009, May)

Therapeutic options to achieve biochemical and tumor control in treatment - resistant patient

Scientific conference (2009, April)

High Incidence of AIP mutations in sporadic pituitary adenomas in young patients with macroadenomas

in 52 Symposium der Deutschen Gesellschaft für Endokrinologie (2009, March)

Factors influencing pharmacological treatment in acromegaly

Scientific conference (2009, March)

Toute la thyroïdologie courante en 75 minutes

Scientific conference (2009, January 16)

La mutazione R304X del gene AIP negli adenomi ipofisari : caratteristiche bio-cliniche e aspetti genetici e funzionali

in 4th Incontri Italiano Sulle Malattie Ipotalamo-Ipofisarie : Ferrara 29-31 gennaio 2009 (2009, January)

Update on familial pituitary tumors: from multiple endocrine neoplasia type 1 to familial isolated pituitary adenoma.

in Hormone Research (2009), 71(Suppl 1), 105-111

BACKGROUND: Pituitary adenomas occur in a familial setting in about 5% of all cases and over half of these are due to multiple endocrine neoplasia type 1 (MEN1) and Carney complex (CNC). Since the late ... [more ▼]

BACKGROUND: Pituitary adenomas occur in a familial setting in about 5% of all cases and over half of these are due to multiple endocrine neoplasia type 1 (MEN1) and Carney complex (CNC). Since the late 1990s, we have described non-MEN1/CNC familial pituitary tumors that include all tumor phenotypes and have named this condition 'familial isolated pituitary adenoma' (FIPA). Clinical features of FIPA differ from those of sporadic pituitary adenomas in that patients with FIPA are often younger and have larger tumors at diagnosis. About 15% of FIPA patients have mutations in the aryl hydrocarbon receptor interacting protein gene (AIP), which indicates that FIPA may have a diverse genetic pathophysiology. We review the clinical features of FIPA, the tumor pathologies found in this setting and the genetic/molecular data that have been recently reported. CONCLUSIONS: Clinically relevant pituitary adenomas are more common than previously thought and occur in a familial setting in about 5% of cases overall. Therefore, specific questioning regarding family history of pituitary disease should be part of the workup of all patients with pituitary adenomas, not just those with acromegaly. FIPA is a useful clinical framework to study the features of pituitary adenomas that occur in a familial setting since it encompasses all tumor phenotypes and heterogeneous/homogeneous expression among affected family members. [less ▲]

Learning from recombinant GH treatment in obesity

in Obesity and Metabolism (2009), 5(3/4), 156-166

Obese and untreated growth hormone deficiency (GHD) patients have a number of similar clinical and biological abnormalities. Treatment with recombinant human growth hormone (rhGH) in GHD patients has ... [more ▼]

Obese and untreated growth hormone deficiency (GHD) patients have a number of similar clinical and biological abnormalities. Treatment with recombinant human growth hormone (rhGH) in GHD patients has proven effective in beneficially modulating body composition and certain cardiovascular risk factors, thus leading to the hypothesis that administration of rhGH in obese patients could show similar beneficial results. Hyperinsulinism and increased free fatty acid levels are the main factors causing reduced GH release in the setting of obesity. We reviewed the outcomes of 25 adult and paediatric clinical studies carried out in 1987-2009 that examined the effects of rhGH administration in the obese state. Body composition showed mainly a reduction in visceral abdominal fat, whereas total bodyweight increased or remained unchanged. Effects of rhGH on lipid and carbohydrate metabolic profiles in obese patients were heterogeneous. The increasing burden of obesity on one hand, the absence of definitive medical treatment on the other, give rise to grounds for considering rhGH as a possible therapeutic option if not in the general obese population, at least in patients with higher risk of cardiovascular morbidity and mortality. [less ▲]

An International collaborative study of the Clinical characteristics and Therapeutic Responses in 92 pituitary Adenoma patients with mutations of the Aryl Hydrocarbon Receptor Interacting protein gene

in 11th International Pituitary Congress : Washington 2009 (2009)

High Incidence of AIP mutations in sporadic pituitary adenomas in young patients with macroadenomas

in The Endocrine Society's 91st Annual Meeting : 10-13 juin 2009, Washington (2009)