Abstract
Growth hormone releasing hormone receptor (GHRH-R) codon 72 mutation is recognised as a common genetic cause of growth hormone deficiency (GHD) in the Indian subcontinent resulting in a characteristic lean phenotype. Genetic studies have not been previously carried out in Sri Lankans with GHD. Patients with GHD presenting to a tertiary care referral centre were studied for GHRH-R codon 72 mutation by PCR amplification and sequencing. The phenotype of the cohort was described as the BMI SDS (Body mass index standard deviation score) based on the anthropometric data at the time of diagnosis. Among 91 patients from 88 families studied, eight (6 boys) carried the codon 72 mutation. The presence of this mutation was low among the Sinhalese ethnicity (3 out of 68) than among Tamil and Moor ethnicities. BMI SDS of <-2 was seen in 71% of mutation positive and 45.8% of mutation negative patients. Prevalence of GHRH-R codon 72 mutation in this group of GH deficient patients was 8.8%. The lean phenotype observed in 71% of the mutation positive patients was not a significant association when compared to a similar phenotype in 45.8% of the mutation negative patients.
Highlights
Growth hormone releasing hormone receptor (GHRH-R) codon 72 mutation is recognised as a common genetic cause of growth hormone deficiency (GHD) in the Indian subcontinent resulting in a characteristic lean phenotype
The lean phenotype observed in 71% of the mutation positive patients was not a significant association when compared to a similar phenotype in 45.8% of the mutation negative patients
GH deficiency (GHD) can result from genetic defects in GH1 gene which codes for pituitary GH and growth hormone releasing hormone (GHRH)-R gene coding for the GHRH receptor [1]
Summary
Growth hormone releasing hormone receptor (GHRH-R) codon 72 mutation is recognised as a common genetic cause of growth hormone deficiency (GHD) in the Indian subcontinent resulting in a characteristic lean phenotype. Growth hormone (GH) is under stimulatory and inhibitory control by hypothalamic hormones, growth hormone releasing hormone (GHRH) and somatostatin respectively. GHRH acts on GHRH receptor (GHRH-R) located in the plasma membrane of anterior pituitary somatotrophic cells and signals the somatroph to synthesise and secrete GH. GH deficiency (GHD) can result from genetic defects in GH1 gene which codes for pituitary GH and GHRH-R gene coding for the GHRH receptor [1]. GHRH-R mutations are reported to be the cause of approximately 10% of isolated growth hormone deficiency with an autosomal recessive inheritance [2]. Genetic defects of GHRH and somatostatin are rare [3]. Mutations in genes downstream of GH-1 comprise GH insensitivity syndrome [4]
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