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See detailCyclin dependant kinase inhibitor 1B (CDKN1B) gene mutations in familial isolated pituitary adenomas (FIPA) : Analysis in 86 families
Tichomoriva, M.; Barlier, A.; Daly, Adrian ULg et al

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

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See detailAdénomes hypophysaires familiaux.
Burlacu, M. C.; Tichomirowa, M.; Daly, Adrian ULg et al

in Presse Médicale (2009), 38(1), 112-116

Familial pituitary adenomas are found in multitumoral syndromes such as multiple endocrine neoplasia type 1 (NEM1) and type 4 (NEM4) and the Carney complex (CNC); it remains at present the only known ... [more ▼]

Familial pituitary adenomas are found in multitumoral syndromes such as multiple endocrine neoplasia type 1 (NEM1) and type 4 (NEM4) and the Carney complex (CNC); it remains at present the only known condition in the category of familial isolated pituitary adenomas (FIPA). Familial adenomas account for 3-5% of all pituitary adenomas. Their pathogenesis is known in part: mutations of the menin gene in NEM1 (80%), of the CDKN1B gene in NEM4 (several cases described), of the PRKR1A gene in CNC (50%) and the AIP gene in 15% of FIPA cases (50% of the FIPA cases with a homogeneous somatotropic phenotype). The clinical course of familial adenoma with NEM1 or FIPA is more aggressive than that of sporadic adenoma, with more macroadenomas and more patients diagnosed younger. Familial pituitary adenomas are distinguished from the sporadic forms in their genetic, epidemiologic and clinical characteristics. They require a differentiated management, especially concerning screening. [less ▲]

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See detailTesticular effects of isolated luteinizing hormone deficiency and reversal by long-term human chorionic gonadotropin treatment.
Valdes Socin, Hernan Gonzalo ULg; Salvi, Roberto; Thiry, Albert ULg et al

in Journal of Clinical Endocrinology and Metabolism (2009), 94(1), 3-4

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See detailUpdate on familial pituitary tumors: from multiple endocrine neoplasia type 1 to familial isolated pituitary adenoma.
Daly, Adrian ULg; Tichomirowa, M. A.; Beckers, Albert ULg

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 ▲]

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See detailLearning from recombinant GH treatment in obesity
Vandeva, S.; Rixhon, M.; Tichomirova, M. A. et al

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 ▲]

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See detailAn analysis of the role of cyclin dependant kinase inhibitor 1B (CDKN1B) gene mutations in 86 families with familial isolated pituitary adenomas (FIPA)
Tichomirova, M. A.; Daly, Adrian ULg; Pujol, Julien ULg et al

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

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See detailTSH-secreting pituitary adenoma in a male patient with a novel missense AIP mutation
Fajardo Montanana, C.; Daly, Adrian ULg; Tichomirova, M. A. et al

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

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See detailHigh Incidence of AIP mutations in sporadic pituitary adenomas in young patients with macroadenomas
Tichomirova, M. A.; Daly, Adrian ULg; Barlier, A. et al

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

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See detailCushing disease : Influence of microsurgery on hormonal balance
Vroonen, Laurent ULg; Martin, Didier ULg; Valdes Socin, Hernan Gonzalo ULg et al

in European Neuroendocrine Association - Workshop : Novel insights in the management of Cushing's syndrome (2009)

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See detailCushing disease : Pituitary microsurgery on hormonal balance
Stevenaert, Achille ULg; Vroonen, Laurent ULg; Perrin, G. et al

in European Neuroendocrine Association - Workshop : Novel insights in the management of Cushing's syndrome (2009)

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See detailThe Genetics in Cushing syndrome
Vandeva, S.; Daly, Adrian ULg; Vroonen, Laurent ULg et al

in European Neuroendocrine Association - Workshop : Novel experimental data on the pituitary and adrenal tumors responsible for Cushing's syndrome (2009)

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See detailCharacterization of prolatinomas resistant to dopaminergic agonists
Vroonen, Laurent ULg; Tamagno, G.; Naves, L. et al

in 19 Meeting of the Belgian Endocrine and Metabolic societies (2009)

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See detailFunctioning Pituitary Adenomas
Beckers, Albert ULg; Daly, Adrian ULg

in Refetoff, Samuel; Weiss, Roy E (Eds.) Genetic diagnosis of endocrine disorders (2009)

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See detailEpidémiologie des adénomes hypophysaires
Burlacu, M. C.; Daly, Adrian ULg; Beckers, Albert ULg

in Feuillets de Biologie (2009)

Les adénomes hypophysaires représentent une pathologie fréquente parmi les tumeurs cérébrales. Une étude liègoise récente a montré une prévalence des adénomes hypophysaires cliniquement actifs de 1:1064 ... [more ▼]

Les adénomes hypophysaires représentent une pathologie fréquente parmi les tumeurs cérébrales. Une étude liègoise récente a montré une prévalence des adénomes hypophysaires cliniquement actifs de 1:1064 habitants, nettement supérieure aux données antérieures. Tant dans les séries cliniques qu'autopsiques, les microadénomes à prolactine sont les adénomes prédominants. Les adénomes hypophysaires sont le plus souvent de présentation sporadique, mais des adénomes familiaux dans des formes isolées ou syndromiques sont également décrits. Les adénomes hypophysaires familiaux représentent 5 p.100 des adénomes hypophysaires et leur caractérisation clinique et génétique a été récemment enrichie par la description de la nouvelle entité FIPA (Familial Isolated Pituitary Adenomas) et des mutations du gène AIP (Aryl hydrocarbon receptor-Interactircg Protein). Bien que d'évolution habituellement bénigne, les adénomes hypophysaires sont caractérisés par une grande diversité clinique et génétique qui réclame des moyens diagnostiques et thérapeutiques spécifiques. [less ▲]

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See detailCaractérisation clinique et génétique des adénomes hypophysaires familiaux isolés (FIPA).
Beckers, Albert ULg; Apetrii, P.; Daly, Adrian ULg et al

in Revue Médicale de Liège (2009), 64(S1), 15-19

Pituitary adenomas are common brain tumours at autopsy and radiological series of unselected population. Historically, few epidemiologic data regarding the prevalence of clinically apparent pituitary ... [more ▼]

Pituitary adenomas are common brain tumours at autopsy and radiological series of unselected population. Historically, few epidemiologic data regarding the prevalence of clinically apparent pituitary adenomas have been available. Recently, a cross-sectional study conducted in Liege, Belgium, noted that clinically-apparent pituitary adenomas occurred with a prevalence of 1:1064 inhabitants, which is 3.5-5 times the previously reported prevalence. Pituitary adenomas occur predominantly as sporadic tumors, but also in a familial setting or associated to some familial/isolated tumoral syndromes. The recent characterization of the novel clinical entity FIPA (Familial Isolated Pituitary Adenomas) increased the prevalence of familial pituitary adenomas which account now for about 5% of pituitary tumors. Distinct genetic mechanisms are continuously identified and increase our understanding of the complex clinical presentation and sometimes unpredictable evolution of pituitary adenomas. [less ▲]

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See detailGenetic, molecular and clinical features of familial isolated pituitary adenomas.
Daly, Adrian ULg; Tichomirowa, M. A.; Beckers, Albert ULg

in Hormone Research (2009), 71(Suppl 2), 116-122

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's complex (CNC). Non-MEN1/CNC familial ... [more ▼]

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's complex (CNC). Non-MEN1/CNC familial pituitary tumours of all tumour phenotypes, known as familial isolated pituitary adenomas (FIPA), were first described in the late 1990s. Clinical features of FIPA differ from those of sporadic pituitary adenomas, as patients with FIPA have a younger age at diagnosis and larger tumours. About 15% of patients with FIPA have mutations in the aryl hydrocarbon receptor-interacting protein gene (AIP), which indicates that FIPA may have a diverse genetic pathophysiology. This article describes the clinical features of FIPA, the tumour pathologies found in this setting and the genetic/molecular data that have recently been reported in FIPA. [less ▲]

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See detailUpdate on the treatment of pituitary adenomas: familial and genetic considerations.
Daly, Adrian ULg; Beckers, Albert ULg

in Acta Clinica Belgica (2008), 63(6), 418-424

Clinically-relevant pituitary adenomas occur with a prevalence of approximately 1 per 1000 population in Belgium. Pituitary adenomas that occur in families are likely to have an important genetic ... [more ▼]

Clinically-relevant pituitary adenomas occur with a prevalence of approximately 1 per 1000 population in Belgium. Pituitary adenomas that occur in families are likely to have an important genetic pathophysiological basis. Currently about 5% of all pituitary adenoma cases have a family history of pituitary adenomas, classically due to multiple endocrine neoplasia type 1 (MEN1) and Carney complex (CNC). Over the last decade we have described non-MEN1/CNC familial pituitary tumours that include all tumour phenotypes, a condition named '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 tumours at diagnosis. Approximately 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. In this review we examine new findings on the epidemiology of pituitary adenomas and we review familial causes of pituitary adenomas with a particular emphasis on modern clinical testing. In addition, the clinical and genetic features of FIPA are described as FIPA represents a useful framework to study the features of pituitary adenomas that occur in a familial setting. [less ▲]

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See detailAn international, collaborative study of disease characteristics and response to therapy in 60 pituitary adenoma patients with Aryl Hydrocarbon Receptor Interacting
Tikhomirova, M.; Daly, Adrian ULg; Jaffrain-Réa, M. L. et al

in 18th Meeting of the Belgian Endocrine and Metabolic societies : Bruxelles, 25 octobre 2008 (2008, October)

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See detailTwo novel mutations of the calcium sensing receptor gene
Livaradiu, E.; Rydlewski, C.; Hamoir, Etienne ULg et al

in 18th Meeting of the Belgian Endocrine and Metabolic societies : Bruxelles, 25 octobre 2008 (2008, October)

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