Acromegaly and genetics. (PubMed, Vitam Horm)
Hereditary GH-secreting PitNETs can manifest as isolated tumors, such as in familial isolated pituitary adenoma (FIPA) including cases with AIP variants or GPR101 microduplications, (X- linked acrogigantism) or can be part of syndromes like multiple endocrine neoplasia type 1 or type 4, McCune-Albright syndrome, Carney complex or phaeochromocytoma/paraganglioma-pituitary adenoma association. Identifying genetic defects allows an early detection and prompt intervention, essential for preventing complications and improving the quality of life in affected individuals, as well as finding affected relatives before the clinical manifestations of the disease.