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Exon-3 deleted GH receptor linked to long-term complications of acromegaly
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Patients with long-term disease control of acromegaly and deletion of exon 3 of the growth hormone receptor (d3GHR) had an increased prevalence of irreversible comorbidities such as adenomatous colonic polyps, dolichocolon and osteoarthritis.
Researchers conducted a cross-sectional study to determine the impact of d3GHR on long-term disease control of acromegaly in 86 patients (mean age, 58 years). All patients had well-controlled disease for a mean of 14 years.
Six patients (7%) had two alleles encoding for the d3GHR isoform, 29 (34%) had one allele and 51 (59%) had two wild-type alleles.
Patients who were carriers of the d3GHR isoform had an increased prevalence of osteoarthritis (OR=5.2; 95% CI, 3.2-7.1), particularly of the hip, knee and distal interphalangeal joints of the hand. Carriers also had a higher prevalence of adenomatous polyps (OR=4.1; 95% CI, 2.4-5.6) and dolichocolon (OR=3.2; 95% CI, 1.8-4.6).
Researchers noted no significant difference in anthropometric parameters, bone mineral density, cardiovascular risk factors, nonvertebral fractures or type 2 diabetes between carriers and non-carriers of the d3GHR allele.
“Apparently, the ultimate impact of the d3GHR polymorphism on long-term complications of acromegaly is evident only on the irreversible effective of previous GH excess,” the researchers concluded.
Wassenaar MJE. J Clin Endocrinol Metab. 2009;doi:10.1210/jc.2009-1172.