Familial Isolated Pituitary Adenomas

2009 ◽  
Vol 05 (0) ◽  
pp. 55
Author(s):  
Harvinder S Chahal ◽  
VK Ajith Kumar ◽  
Márta Korbonits ◽  
◽  
◽  
...  
Keyword(s):  
Aryl Hydrocarbon Receptor ◽  
Medical Therapy ◽  
Pituitary Adenomas ◽  
Protein Gene ◽  
Family Members ◽  
Interacting Protein ◽  
Genetic Characteristics ◽  
Aryl Hydrocarbon ◽  
Intense Research

Over the last century several families have been described with familial isolated pituitary adenomas (FIPAs). Most commonly, family members have acromegaly or prolactinoma, but other types of pituitary adenomas can also occur. Recently, mutations in theAIP(aryl hydrocarbon receptor interacting protein) gene have been found to occur in 30–50% of FIPA patients, while for the rest of the patients the gene causing the disease is currently unknown and is a topic of intense research. Tumours in patients withAIPmutations are diagnosed at significantly younger ages and tend to be larger. Often the response to medical therapy in these patients is poor. This article discusses the clinical and genetic characteristics of this relatively recently recognised disease.

Familial Isolated Pituitary Adenomas

2009 ◽  
Vol 05 (01) ◽  
pp. 55
Author(s):  
Harvinder S Chahal ◽  
VK Ajith Kumar ◽  
Márta Korbonits ◽  
◽  
◽  
...  
Keyword(s):  
Aryl Hydrocarbon Receptor ◽  
Medical Therapy ◽  
Pituitary Adenomas ◽  
Protein Gene ◽  
Family Members ◽  
Interacting Protein ◽  
Genetic Characteristics ◽  
Aryl Hydrocarbon ◽  
Intense Research

Over the last century several families have been described with familial isolated pituitary adenomas (FIPAs). Most commonly, family members have acromegaly or prolactinoma, but other types of pituitary adenomas can also occur. Recently, mutations in theAIP(aryl hydrocarbon receptor interacting protein) gene have been found to occur in 30–50% of FIPA patients, while for the rest of the patients the gene causing the disease is currently unknown and is a topic of intense research. Tumours in patients withAIPmutations are diagnosed at significantly younger ages and tend to be larger. Often the response to medical therapy in these patients is poor. This article discusses the clinical and genetic characteristics of this relatively recently recognised disease.

Familial isolated pituitary adenoma syndrome

2011 ◽  
Vol 152 (18) ◽  
pp. 722-730 ◽  
Author(s):  
Judit Dénes ◽  
Márta Korbonits ◽  
Erika Hubina ◽  
Gábor László Kovács ◽  
László Kovács ◽  
...  
Keyword(s):  
Pituitary Adenoma ◽  
Aryl Hydrocarbon Receptor ◽  
Pituitary Adenomas ◽  
Protein Gene ◽  
Gene Mutations ◽  
Carney Complex ◽  
Incomplete Penetrance ◽  
Causative Gene ◽  
Interacting Protein ◽  
Aryl Hydrocarbon

Familial pituitary adenomas occur in multiple endocrine neoplasia type 1, Carney complex, as well as in familial isolated pituitary adenoma syndrome. Familial isolated pituitary adenoma syndrome is an autosomal dominant disease with incomplete penetrance. Pituitary adenomas occur in familial setting but without any other specific tumors. In 20-40% of families with this syndrome, mutations have been identified in the aryl hydrocarbon receptor interacting protein gene while in the rest of the families the causative gene or genes have not been identified. Families carrying aryl hydrocarbon receptor interacting protein gene mutations have a distinct phenotype with younger age at diagnosis and a predominance of somatotroph and lactotroph adenomas. Germline mutations of the aryl hydrocarbon receptor interacting protein gene can be occasionally identified in usually young-onset seemingly sporadic cases. Genetic and clinical testing of relatives of patients with aryl hydrocarbon receptor interacting protein gene mutations can lead to earlier diagnosis and treatment at an earlier stage of the pituitary tumor. Orv. Hetil., 2011, 152, 722–730.

scholarly journals The Role of the Aryl Hydrocarbon Receptor-Interacting Protein Gene in Familial and Sporadic Pituitary Adenomas

2008 ◽  
Vol 93 (6) ◽  
pp. 2390-2401 ◽  
Author(s):  
Chrysanthia A. Leontiou ◽  
Maria Gueorguiev ◽  
Jacqueline van der Spuy ◽  
Richard Quinton ◽  
Francesca Lolli ◽  
...  
Keyword(s):  
Aryl Hydrocarbon Receptor ◽  
Pituitary Adenomas ◽  
Protein Gene ◽  
Interacting Protein ◽  
Aryl Hydrocarbon
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