Gigantism.

Area of Science:

• Endocrinology
• Pediatric Endocrinology
• Genetics

Background:

• Gigantism is defined as height exceeding 2 SDs above the mean for age, sex, and ethnicity, or 2 SDs above mid-parental height.
• Patients with accelerated growth are referred to endocrinologists to rule out hormonal disorders, primarily excessive growth hormone (GH) and insulin-like growth factor 1 (IGF-1).
• Genetic causes, such as AIP or MEN1 mutations, can underlie endocrine disorders associated with tall stature, necessitating accurate diagnosis.

Purpose of the Study:

• To provide an updated overview of the causes, differential diagnosis, and management of gigantism.
• To focus on GH/IGF-1-related pituitary gigantism, including isolated and familial forms.
• To differentiate between pathological causes and benign constitutional variants of tall stature.

Main Methods:

• Review of current literature on gigantism and tall stature.
• Analysis of diagnostic criteria and clinical manifestations.
• Discussion of management strategies for pituitary and non-pituitary causes.

Main Results:

• Pituitary gigantism due to GH/IGF-1 excess is a primary focus, with genetic factors playing a role in some cases.
• Benign constitutional variants are the most frequent cause of tall stature.
• Overgrowth syndromes and pseudoacromegaly represent rarer, non-pituitary causes of gigantism.

Conclusions:

• Accurate diagnosis of gigantism is mandatory to distinguish pathological conditions from benign variants.
• Management strategies are tailored to the underlying cause, with a focus on hormonal regulation for pituitary gigantism.
• Understanding genetic predispositions is important for familial and isolated cases of GH excess.