Acromegaly and genetics.

Idoia Martínez de Lapiscina, Candela Baquero, Luis Castaño

Journal: Vitamins and hormones 2026;131():235-263

PMID: 41912295

Full Text on Elsevier Science View on PubMed

Abstract

Acromegaly is a rare endocrine disorder characterized by the excessive production of growth hormone (GH) in adulthood, usually (95 percent of the time) due to a benign tumor in the pituitary gland (PitNET). Although GNAS variants are the most prevalent cause of sporadic somatotroph tumors, these can rarely occur in a familial setting (5 percent). 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.

Address: Research into the Genetics and Control of Diabetes and other Endocrine Disorders, Biobizkaia Health Research Institute, Cruces University Hospital, Barakaldo, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Centro de Investigación Biomédica en Red de Diabtes y Enfermedades Metabólicas Asociadas (CIBERDEM), Instituto de Salud Carlos III, Madrid, Spain; European Reference Network on Rare Endocrine Conditions (Endo-ERN), Amsterdam, The Netherlands.; Research into the Genetics and Control of Diabetes and other Endocrine Disorders, Biobizkaia Health Research Institute, Cruces University Hospital, Barakaldo, Spain.; Research into the Genetics and Control of Diabetes and other Endocrine Disorders, Biobizkaia Health Research Institute, Cruces University Hospital, Barakaldo, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Centro de Investigación Biomédica en Red de Diabtes y Enfermedades Metabólicas Asociadas (CIBERDEM), Instituto de Salud Carlos III, Madrid, Spain; European Reference Network on Rare Endocrine Conditions (Endo-ERN), Amsterdam, The Netherlands; Faculty of Medicine and Dentistry, University of the Basque Country (EHU), Leioa, Spain.

DOI: 10.1016/bs.vh.2025.10.008

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MeSH Terms: Humans, Acromegaly, Growth Hormone-Secreting Pituitary Adenoma, Pituitary Neoplasms, Human Growth Hormone