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Endocrinol Metab : Endocrinology and Metabolism


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In Ryang Hwang  (Hwang IR) 1 Article
Adrenal gland
Association between the Growth Hormone Receptor Exon 3 Polymorphism and Metabolic Factors in Korean Patients with Acromegaly
Hye Yoon Park, In Ryang Hwang, Jung Bum Seo, Su Won Kim, Hyun Ae Seo, In Kyu Lee, Jung Guk Kim
Endocrinol Metab. 2015;30(3):312-317.   Published online January 5, 2015
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AbstractAbstract PDFPubReader   

This study investigated the association between the frequency of growth hormone receptor (GHR) exon 3 polymorphism (exon 3 deletion; d3-GHR) and metabolic factors in patients with acromegaly in Korea.


DNA was extracted from the peripheral blood of 30 unrelated patients with acromegaly. GHR genotypes were evaluated by polymerase chain reaction and correlated with demographic data and laboratory parameters.


No patient had the d3/d3 genotype, while four (13.3%) had the d3/fl genotype, and 26 (86.7%) had the fl/fl genotype. Body mass index (BMI) in patients with the d3/fl genotype was significantly higher than in those with the fl/fl genotype (P=0.001). Age, gender, blood pressure, insulin-like growth factor-1, growth hormone, fasting plasma glucose, triglycerides, high density lipoprotein cholesterol, and low density lipoprotein cholesterol levels showed no significant differences between the two genotypes.


The d3-GHR polymorphism may be associated with high BMI but not with other demographic characteristics or laboratory parameters.


Citations to this article as recorded by  
  • The Exon 3-Deleted Growth Hormone Receptor (d3GHR) Polymorphism—A Favorable Backdoor Mechanism for the GHR Function
    Ghadeer Falah, Lital Sharvit, Gil Atzmon
    International Journal of Molecular Sciences.2023; 24(18): 13908.     CrossRef
  • Gender Specificity and Local Socioeconomic Influence on Association of GHR fl/d3 Polymorphism With Growth and Metabolism in Children and Adolescents
    Xiaotian Chen, Chunlan Liu, Song Yang, Yaming Yang, Yanchun Chen, Xianghai Zhao, Weiguang Zhu, Qihui Zhao, Chuan Ni, Xiangyuan Huang, Weili Yan, Chong Shen, Harvest F. Gu
    Frontiers in Pediatrics.2022;[Epub]     CrossRef
  • Exon 3-deleted growth hormone receptor isoform is not related to worse bone mineral density or microarchitecture or to increased fracture risk in acromegaly
    J. Pontes, M. Madeira, C. H. A. Lima, L. L. Ogino, F. de Paula Paranhos Neto, L. M. C. de Mendonça, M. L. F. Farias, L. Kasuki, M. R. Gadelha
    Journal of Endocrinological Investigation.2020; 43(2): 163.     CrossRef
  • MECHANISMS IN ENDOCRINOLOGY: Lessons from growth hormone receptor gene-disrupted mice: are there benefits of endocrine defects?
    Reetobrata Basu, Yanrong Qian, John J Kopchick
    European Journal of Endocrinology.2018; 178(5): R155.     CrossRef
  • MECHANISMS IN ENDOCRINOLOGY: Clinical and pharmacogenetic aspects of the growth hormone receptor polymorphism
    Cesar L Boguszewski, Edna J L Barbosa, Per-Arne Svensson, Gudmundur Johannsson, Camilla A M Glad
    European Journal of Endocrinology.2017; 177(6): R309.     CrossRef
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