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Acromegaly and genetics.

Idoia Martínez de Lapiscina1, Candela Baquero2, Luis Castaño3

  • 1Research 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.

Vitamins and Hormones
|March 30, 2026
PubMed
Summary

Acromegaly, caused by excess growth hormone (GH), is often due to pituitary tumors. Genetic defects in hereditary cases allow early detection and intervention for better patient outcomes.

Keywords:
AcromegalyGene variantPituitary adenoma

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Area of Science:

  • Endocrinology
  • Genetics
  • Oncology

Background:

  • Acromegaly results from excessive growth hormone (GH) in adults, typically caused by pituitary tumors (PitNETs).
  • While GNAS variants are common in sporadic cases, hereditary forms of GH-secreting PitNETs occur rarely.
  • Hereditary cases can be isolated (FIPA, X-linked acrogigantism) or part of genetic syndromes.

Purpose of the Study:

  • To highlight the genetic basis of acromegaly.
  • To emphasize the importance of identifying genetic defects for early diagnosis and management.
  • To underscore the role of genetic screening in familial settings.

Main Methods:

  • Review of genetic causes of GH-secreting pituitary tumors.
  • Analysis of familial and syndromic forms of hereditary pituitary adenomas.
  • Discussion of diagnostic and therapeutic implications of genetic findings.

Main Results:

  • GNAS variants are the primary cause of sporadic somatotroph tumors.
  • Hereditary GH-secreting PitNETs are associated with specific genetic variants (AIP, GPR101) or syndromes.
  • Genetic identification enables proactive healthcare for affected individuals and families.

Conclusions:

  • Identifying genetic defects in acromegaly is crucial for early detection and intervention.
  • Prompt diagnosis and management prevent complications and improve quality of life.
  • Genetic analysis aids in identifying at-risk relatives before disease onset.