References of "Expert Review of Endocrinology & Metabolism"
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See detailWhat to do with a pituitary incidentaloma ?
Beckers, Albert ULg; Daly, Adrian ULg

in Expert Review of Endocrinology & Metabolism (2011)

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See detailGenetic susceptibility in pituitary adenomas : from pathogenesis to clinical implications
Jaffrain-Rea, Marie-Lise; Daly, Adrian ULg; Angelini, Mariolina et al

in Expert Review of Endocrinology & Metabolism (2011)

Pituitary adenomas (PA) usually present sporadically, with a multifactorial pathogenesis including somatic mutational events in cancer-related genes. Genetic predisposition implies the presence of ... [more ▼]

Pituitary adenomas (PA) usually present sporadically, with a multifactorial pathogenesis including somatic mutational events in cancer-related genes. Genetic predisposition implies the presence of germline DNA alterations with a variety of impacts on pituitary cell biology, translating into a variable penetrance of the disease. Genetic causes must be considered in the presence of specific clinical settings, such as familial occurrence of PA, with or without extrapituitary diseases, and may also be suspected in young patients with macroadenomas. We <br />review the clinical implications of genetic predisposition, with special attention to Multiple Endocrine Neoplasia type 1 (MEN1), Carney’s complex (CNC) and FIPA (Familial Isolated Pituitary Adenoma), and the scenario of genetic screening in selected patients with an apparently sporadic disease is discussed. [less ▲]

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See detailPituitary adenomas in young patients : when should we consider a genetic predisposition ?
Jaffrain-Rea, M. L.; Tichomirova, M.; Daly, A. F. et al

in Expert Review of Endocrinology & Metabolism (2009), 4(6), 529-531

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See detailCurrent and future perspectives on Recombinant GH for the treatment of Obesity
Rixhon, M.; Tikhomirova, M. A.; Tamagno, G. et al

in Expert Review of Endocrinology & Metabolism (2008), 3(1), 75-89

The similarities between patients with untreated growth hormone (GH) deficiency and those with the cardiometabolic syndrome and the beneficial effects of recombinant human GH (rhGH) on body composition ... [more ▼]

The similarities between patients with untreated growth hormone (GH) deficiency and those with the cardiometabolic syndrome and the beneficial effects of recombinant human GH (rhGH) on body composition have led to the hypothesis that rhGH treatment may have utility in obesity. GH release is reduced in the setting of obesity, primarily due to hyperinsulinism and increased free fatty acid levels. We reviewed the outcomes of 23 clinical studies carried out between 1987 and 2006 that examined the effects of rhGH administration in the obese state. Typically, changes in overall body weight do not occur with rhGH therapy; however, assessment of body composition demonstrates reductions in visceral abdominal fat. Data on the effects of rhGH on lipid and carbohydrate metabolic profiles in obese patients are less clear-cut, with a subset of studies showing a beneficial effect and others a neutral effect. Given the increasing burden of obesity in the general population and the current paucity of effective therapies, it is useful to consider the data on rhGH and obesity from a clinical perspective to highlight potential treatment strategies that harness the somatotropic axis. [less ▲]

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See detailCharacteristics of familial isolated pituitary adenomas (FIPA) - Review
Daly, Adrian ULg; Vanbellinghen, Jean-François ULg; Beckers, Albert ULg

in Expert Review of Endocrinology & Metabolism (2007), 2(6), 725-733

The familial occurrence of pituitary adenomas has been recognized for many years and currently accounts for approximately 5% of all cases. Molecular, genetic and clinical features of familial pituitary ... [more ▼]

The familial occurrence of pituitary adenomas has been recognized for many years and currently accounts for approximately 5% of all cases. Molecular, genetic and clinical features of familial pituitary adenomas have been well characterized in multiple endocrine neoplasia type 1 (MEN-1) and Carney's complex (CNC), which account for the majority of familial pituitary tumor cases. These conditions are caused by MEN1 and PRKAR1A gene mutations, respectively, and the clinical and pathological features of pituitary pathology in these diseases differ from those of sporadic pituitary tumors. Familial acromegaly has been recognized for many years and, more recently, the clinical features of this clinical phenotype, referred to as isolated familial somatotropinoma, have been clarified. Over the past decade, the concept of non-MEN-1/CNC familial pituitary tumors has been expanded significantly to include all phenotypes, a condition known as familial isolated pituitary adenomas (FIPA). In FIPA, tumors can present homogeneously (same phenotype) or heterogeneously (different tumor phenotypes) within the same family. Compared with sporadic pituitary adenomas, patients with FIPA have a younger age at diagnosis and have larger tumors. The clinical features of FIPA differ from those of MEN-1 in terms of a higher frequency of somatotropinomas and a lower frequency of prolactinomas. The recent discovery of the involvement of mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene in association with pituitary tumors has provided new information regarding potential mechanisms of tumorigenesis in FIPA patients. While very infrequent in sporadic pituitary tumors, approximately 15% of FIPA patients have AIP mutations, rising to half of patients with familial acromegaly. In this review, we detail the clinical features of FIPA and discuss tumor pathology and genetic findings in this increasingly recognized clinical condition. [less ▲]

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