Two brothers and a sister with acromegaly--one of them with acromegalogigantism--are described. They all presented pituitary adenomas, and the diagnosis was made between the ages of 17 and 29. There was no feature of multiple endocrine neoplasia. The familial investigation consisted of detailed interrogation, basal hormonal evaluation and HLA determination (haplotypes A and B) in 14 members, including the patients themselves. Despite basal plasma GH levels ranging from 8.00 to 10.00 ng/ml in 3 other family members, the normality of both GH response to induced-hyperglycemia and CT-imaging of the pituitary gland excluded the diagnosis of acromegaly in these subjects. No correlation with the HLA haplotypes was observed. Differential diagnosis with familial multiple endocrine neoplasia (MEN type 1) is discussed. Previous reports of familial acromegaly are reviewed and analysed. It appears that familial acromegaly may be considered as a specific entity for two main reasons: 1) owing to the low incidence of acromegaly in the general population, familial cases are unlikely to be fortuitous. 2) most of the reported cases share some common clinical features, such as a male predominance, a high incidence of acromegalogigantism, and the presence of a pituitary macroadenoma. However, the primitive disorder and the genetic transmission of the disease are still unknown.

L'acromégalie familiale: A propos d'une observation, revue de la littérature

JAFFRAIN, MARIE LISE;
1992

Abstract

Two brothers and a sister with acromegaly--one of them with acromegalogigantism--are described. They all presented pituitary adenomas, and the diagnosis was made between the ages of 17 and 29. There was no feature of multiple endocrine neoplasia. The familial investigation consisted of detailed interrogation, basal hormonal evaluation and HLA determination (haplotypes A and B) in 14 members, including the patients themselves. Despite basal plasma GH levels ranging from 8.00 to 10.00 ng/ml in 3 other family members, the normality of both GH response to induced-hyperglycemia and CT-imaging of the pituitary gland excluded the diagnosis of acromegaly in these subjects. No correlation with the HLA haplotypes was observed. Differential diagnosis with familial multiple endocrine neoplasia (MEN type 1) is discussed. Previous reports of familial acromegaly are reviewed and analysed. It appears that familial acromegaly may be considered as a specific entity for two main reasons: 1) owing to the low incidence of acromegaly in the general population, familial cases are unlikely to be fortuitous. 2) most of the reported cases share some common clinical features, such as a male predominance, a high incidence of acromegalogigantism, and the presence of a pituitary macroadenoma. However, the primitive disorder and the genetic transmission of the disease are still unknown.
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11697/7067
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