Genetic Aspects of Acromegaly

Djumaniyazovna NG1*, Madrimovna AA2, Saydullaevna IS1 and Miltikbaevich AA1

1RSSPMCE named after Academician Y. Kh. Turakulov, Uzbekistan
2Endocrinology Dispensary of Khorezm Region Urgench, Uzbekistan

^*Correspondance to: Narimova Gulchekhra Djumaniyazovna 

 PDF  Full Text DOI: 10.25107/2474-1647.3579

Abstract

The prevalence of acromegaly is 40 to 70 cases per million with an annual incidence of 3 to 4 new cases per million of population. Patients with pituitary tumors usually do not have a family history of the pituitary gland diseases, and in most cases, embryo or mosaic changes cannot be detected, while recurrent somatic mutations are common in ubiquitin specific peptidase 8, in corticotropinomas and guanine nucleotide binding protein, alpha stimulating complex locus in somatotropinomas genes. The hereditary pituitary tumors are rare (~5%), but are currently well known and represented as a family disease or manifested sporadic cases. Sporadic cases can have mutations of the germline de novo (for example, most cases of X-linked acrogigantism due to duplication of GPR, mosaic mutations (McCune-Albright syndrome [GNAS mutations] or XLAG) whereas family history is masked as low penetrance (aryl hydrocarbon receptor-interacting protein, AIP) or imprinting.

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Cite the article

Djumaniyazovna NG, Madrimovna AA, Saydullaevna IS, Miltikbaevich AA. Genetic Aspects of Acromegaly. Clin Surg. 2022; 7: 3579..