Pathological and clinical features of a large brazilian family harboring a frameshift mutation in the aryl hydrocarbon receptor interacting protein gene

in XIV Simposo Internacinal de Neuroendocrinologia - Endocrinologia and Metabologia - Arquivos Brasileiros de Endocrinologia e Metabologia : Fevereiro 2008, 52, suplemento 1 (2008)

Familial Acromegaly : Family screening and assetment in the familial isolated pituitary adenoma (FIPA)

in 10th European Congress of Endocrinology - Abstract book (2008)

Aryl Hydrocarbon Receptor interacting Protein Gene Mutations in Bulgarian FIPA and Young Sporadic Pituitary Adenoma Patients

in ENDO 2008: 90th Annual Meeting of the Endocrine Society - Abstract book (2008)

Aryl Hydrocarbon receptor interacting protein (AIP) expression in human pituitary adenomas

in 10th European Congress of Endocrinology - Abstract book (2008)

AIP protein expression can predict treatment response to somatostatin analogs in sporadic GH secreting adenomas in women

in ENDO 2008: 90th Annual Meeting of the Endocrine Society - Abstract book (2008)

Les microprolactinomes : diagnostic clinique, biologique et radiologique

in Young, Jacques (Ed.) Hyperprolactinémies (2008)

Characterization of a family harboring a novel LHBéta subunit mutation associated with hypogonadism

in 17th Meeting of the Belgian Endocrine Society : Bruxelles, 25 novembre 2007 (2007, November)

Vitex agnus castus might enrich the pharmacological armamentarium for medical treatment of prolactinoma

in European Journal of Obstetrics & Gynecology & Reproductive Biology (2007), 135(1), 139-140

Variable pathological and clinical features of a large Brazilian family harboring a mutation in the aryl hydrocarbon receptor-interacting protein gene

in European Journal of Endocrinology (2007), 157(4), 383-391

Background: Germline aryl hydrocarbon receptor-interacting protein (AIP) mutations occur in 15% of familial isolated pituitary adenoma (FIPA) cases. To date, studies have focused on the identification of ... [more ▼]

Background: Germline aryl hydrocarbon receptor-interacting protein (AIP) mutations occur in 15% of familial isolated pituitary adenoma (FIPA) cases. To date, studies have focused on the identification of such mutations in large international cohorts. Detailed genetic and clinical studies within AIP mutation-positive families have been limited. Aim: To undertake a comprehensive study of a large Brazilian FIPA kindred with an E174 frameshift (E174fs) AIP mutation to assess clinical, hormonal, and radiological features in mutation carriers. Methods: The kindred included 122 subjects across six generations; all underwent clinical examination. Genetic studies were performed to identify E174fs mutation carriers. E174fs-positive subjects underwent magnetic resonance imaging (MRI) and hormonal assessments. Results: Of the ten germline AIP mutation carriers, three had pituitary tumors, while seven were asymptomatic carriers. Three patients with pituitary tumors showed variability in terms of tumor phenotype (two with acromegaly, one with prolactinoma, or mixed prolactin/GH-secreting tumor) and age at diagnosis; both patients with acromegaly had poor responses to octreotide. Tumor AIP immunohistochemistry from the operated patient showed decreased expression when compared with normal tissue. Two adult subjects with normal MRI had elevated IGF-I in the absence of other causes. A 2-year-old child with the E174fs mutation and a normal MRI had premature thelarche, ovarian development, and advanced bone age in the absence of other underlying causes. Conclusions: The penetrance of pituitary tumors in AIP mutation-positive adult subjects was 33.3%, while clinical/hormonal features were variable. The features noted in AIP-mutation carriers in this kindred suggest that clinical characteristics of such carriers may extend beyond pituitary tumors. [less ▲]

The Epidemiology of pituitary tumors : Results of an international collaborative study

in The Endocrine Society's - 89 Annual Meeting : Toronto, Canada, 2-5 june 2007 (2007, June)