ISSN 1470-3947 (print)
ISSN 1479-6848 (online)

Searchable abstracts of presentations at key conferences in endocrinology

Published by BioScientifica
Endocrine Abstracts (2010) 22 P408 
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Familial acromegaly

Aikaterini Chronaiou, Ifigenia Kostoglou-Athanassiou, Dimitris Stefanopoulos, Eleni Xanthakou, Razvan Alexandros Badila, Nicolaos Klonaris, Areti Karfi & Konstantinos Tzioras

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Acromegaly is a disease characterized by the presence of a pituitary ademona which secretes excessive amounts of growth hormone. The presence of an adenoma causing acromegaly in the context of multiple endocrine neoplasia syndromes has been described. However, the presence of solitary pituitary adenomas causing acromegaly in siblings is extremely rare.

Aim: The aim was to describe acromegaly in 2 siblings.

A male patient, aged 56 years developed all the characteristics of acromegaly, diabetes mellitus, megalacroid characteristics, headache, bilateral hemianopia, carpal tunnel syndrome, fatigue, muscular weakness and decreased libido. GH and IgF1 were abnormally elevated and were nonsuppressible after the administration of glucose. Octreotide was administered for a period of 1 year and thereafter the adenoma was removed transsphenoidally. On histology a GH secreting adenoma was observed. The symptoms subsided. Later on pituitary insufficiency was documented. Eight years after surgery acromegaly recurred and somatostatin analogs were administered. After a period of 6 years from the diagnosis of acromegaly in the 1st brother, the younger brother of the patient aged then 54 years developed diabetes mellitus, coarce facial characteristics, change in the size of shoes, headaches, voice hoarseness, carpal tunnel syndrome, and sleep apnea. Acromegaly was diagnosed and the adenoma was removed surgically. Histology showed a GH secreting pituitary adenoma. Postsurgery acromegaly was not active. After a period of 4 years partial activity of the disease was observed and somatostatin analogs were administered.

Conclusion: The extremely rare case of siblings presenting with pituitary adenomas causing acromegaly is described. Both brothers presented with acromegaly in middle age, both underwent surgery, both had full remission of the disease postsurgically and later on acromegaly recurrence. This extremely rare occurrence of acromegaly in siblings suggests the possibility of a genetic basis of the disease.

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