Acromegaly

Abstract

Acromegaly is a rare chronic condition with an approximate incidence of 5 cases per million per year and a prevalence of 60 cases per million (Lugo et al., Int J Endocrinol 2012: 540398, 2012). In modern literature, the condition was first described by the French neurologist Pierre Marie in 1886, with acromegaly being from the Greek akron—extremities and megas—large (Marie, Rev de med 6:297–333, 1886). Acromegaly is a consequence of excess growth hormone (GH) secretion, typically due to a benign pituitary adenoma, usually macrodenomas (>10 mm in diameter). Rarely can it occur as a result of excess secretion of growth hormone releasing hormone (GHRH) from the hypothalamus (Asa et al., J Clin Endocrinol Metab 58:796–803, 1984) or from neuroendocrine tumours (Gola et al., Pituitary 9(3):221–9, 2006). Most cases are sporadic but it can be a manifestation of familial syndromes such as multiple endocrine neoplasia type 1, McCune Albright syndrome, familial acromegaly and Carney’s syndrome. Mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene have recently been associated with a predisposition to familial pituitary adenoma, and in particular acromegaly.

Acromegaly results in increased morbidity and premature mortality, but these can be reduced if the disease is controlled. This chapter describes the physiology of GH secretion, the causes and clinical features of acromegaly, the diagnostic tests and treatment.