Gigantism

Gigantism is characterized by a height greater than two standard deviation (SD) scores above the mean height for age, sex and ethnicity or more than 2 SDs above the calculated mid-parental height. Patients with accelerated growth/tall stature are usually referred to endocrinologists or pediatric endocrinologists for the exclusion of hormonal disorders, most notably growth hormone (GH) and insulin-like growth factor 1 (IGF-1) excessive levels leading to pituitary gigantism. Endocrine disorders associated with accelerated growth/tall stature have characteristic manifestations and specific treatments, and may occur due to genetic causes (e.g., AIP or MEN1 mutations), therefore their diagnosis is mandatory. However, benign constitutional maturation variants are the most common causes of deviations to normal growth, while overgrowth syndromes and pseudoacromegaly conditions leading to non-pituitary gigantism may be also rarely encountered. In this chapter, we aimed to provide an update overview of the causes, differential diagnosis and management of gigantism, with the main focus on GH/IGF-1-related pituitary gigantism, including isolated and familial forms.