Start Submission Become a Reviewer

Reading: Growth hormone releasing hormone receptor codon 72 mutation in a cohort of Sri Lankan patien...

Download

A- A+
Alt. Display

Papers

Growth hormone releasing hormone receptor codon 72 mutation in a cohort of Sri Lankan patients with growth hormone deficiency

Authors:

K S H de Silva ,

Department of Paediatrics, Faculty of Medicine, University of Colombo, LK
X close

K H Tennekoon,

Institute of Biochemistry, Molecular Biology and Biotechnology, University of Colombo
X close

T Sundralingam,

Institute of Biochemistry, Molecular Biology and Biotechnology, University of Colombo, LK
X close

B Navarathne,

Institute of Biochemistry, Molecular Biology and Biotechnology, University of Colombo, LK
X close

A S Hewage,

Institute of Biochemistry, Molecular Biology and Biotechnology, University of Colombo, LK
X close

W S de Silva,

Institute of Biochemistry, Molecular Biology and Biotechnology, University of Colombo, LK
X close

D Ganihigama,

Institute of Biochemistry, Molecular Biology and Biotechnology, University of Colombo, LK
X close

H D Jayasinghe,

Institute of Biochemistry, Molecular Biology and Biotechnology, University of Colombo, LK
X close

M E C Muhandiram

Department of Paediatrics, Faculty of Medicine University of Colombo, LK
X close

Abstract

Introduction 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.

Methods 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.

Results 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.

Conclusions 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.

DOI: https://doi.org/10.4038/cmj.v61i1.8257
How to Cite: de Silva, K.S.H., Tennekoon, K.H., Sundralingam, T., Navarathne, B., Hewage, A.S., de Silva, W.S., Ganihigama, D., Jayasinghe, H.D. and Muhandiram, M.E.C., 2016. Growth hormone releasing hormone receptor codon 72 mutation in a cohort of Sri Lankan patients with growth hormone deficiency. Ceylon Medical Journal, 61(1), pp.18–21. DOI: http://doi.org/10.4038/cmj.v61i1.8257
Published on 21 Mar 2016.
Peer Reviewed

Downloads

  • PDF (EN)

    comments powered by Disqus