[Old phenotype and new genotypes. Pituitary adenomas]

Area of Science:

• Endocrinology
• Genetics
• Oncology

Context:

• Gigantism and acromegaly result from excess growth hormone (GH) secretion, typically due to pituitary adenomas.
• These conditions, while considered rare, have a cumulative prevalence estimated around 1/5000.
• The historical case of a giant from Liège serves as a starting point for discussion.

Purpose:

• To describe the various types of GH-secreting pituitary adenomas.
• To elucidate the pathophysiology of these adenomas.
• To highlight rare inherited forms of GH excess, including familial isolated pituitary adenomas (FIPA) and X-linked acrogigantism (X-LAG).

Summary:

• Pituitary adenomas causing excess growth hormone (GH) lead to gigantism and acromegaly.
• The review covers GH adenoma types, their underlying mechanisms, and pathophysiology.
• Specific focus is placed on familial inherited isolated pituitary adenomas (FIPA) and X-linked acrogigantism (X-LAG), both first described in Liège.

Impact:

• Enhances understanding of the etiology and classification of GH-secreting pituitary adenomas.
• Provides insights into the genetic basis of rare inherited forms of gigantism and acromegaly.
• Contributes to the literature on rare endocrine diseases and pituitary tumors.