title: Growth hormone releasing hormone receptor codon 72 mutation in a cohort of Sri Lankan patients with growth hormone deficiency.
abstract: BACKGROUND
  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.
authors.affiliation: Department of Paediatrics, Faculty of Medicine, University of Colombo, Sri Lanka. shamyadesilva@hotmail.com.
authors.forename: K S H
authors.initials: KS
authors.lastname: de Silva
authors.forename: K H
authors.initials: KH
authors.lastname: Tennekoon
authors.forename: T
authors.initials: T
authors.lastname: Sundralingam
authors.forename: B
authors.initials: B
authors.lastname: Navarathne
authors.forename: A S
authors.initials: AS
authors.lastname: Hewage
authors.forename: W S
authors.initials: WS
authors.lastname: de Silva
authors.forename: D
authors.initials: D
authors.lastname: Ganihigama
authors.forename: H D
authors.initials: HD
authors.lastname: Jayasinghe
authors.forename: M E C
authors.initials: ME
authors.lastname: Muhandiram
mesh_terms: D000293:Adolescent; D015992:Body Mass Index; D002648:Child; D002675:Child, Preschool; D003062:Codon; D015331:Cohort Studies; D005260:Female; D013006:Growth Hormone / Q000172:deficiency*; D006801:Humans; D008297:Male; D009154:Mutation; D010641:Phenotype; D018013:Receptors, Neuropeptide / Q000235:genetics*; D018017:Receptors, Pituitary Hormone-Regulating Hormone / Q000235:genetics*; D013188:Sri Lanka; D013851:Thinness / Q000235:genetics*; D055815:Young Adult
chemical_list: D003062:Codon; D018013:Receptors, Neuropeptide; D018017:Receptors, Pituitary Hormone-Regulating Hormone; D013006:Growth Hormone; C048250:somatotropin releasing hormone receptor