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

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.

Auxological outcome of growth hormone therapy at cessation of treatment in a cohort of growth hormone deficient Sri Lankan patients.

INTRODUCTION: Recombinant human growth hormone (r-hGH) for growth hormone deficiency (GHD) has been available free in the state hospitals of Sri Lanka since 2009. OBJECTIVES: The aims were to compare height standard deviation scores (SDS) before and after treatment and compare heights at final assessment in relation to the target height (TH) and TH range. METHODS: Patients with confirmed GHD followed up at the University Unit of the Lady Ridgeway Hospital, Colombo were studied. Anthropometric data were prospectively recorded from presentation to cessation of therapy. The height SDS before and after treatment were calculated and the heights at final assessment were compared with the TH and TH range. RESULTS: Sixteen patients (15 boys) had completed treatment. The mean age at diagnosis was 145.38 (SD=34.28) months with a mean skeletal age of 97.5 (SD=42.85) months. Mean ages at commencement was 164.75 (SD=36.81) months and at cessation of therapy 212.06 (SD=30.12) months duration of therapy was 47.31 (SD=23.99) months.Majority had isolated GHD and 8 patients had pituitary hypoplasia on neuro-imaging. The height SDS improved significantly with treatment from -4.438 (1.18) to -3.37 (0.81), p<0.001. When finally assessed at ages ranging from 15 years 10 months to 26 years 9 months, one patient had reached the TH while six were in the TH range. CONCLUSIONS: Auxological response to therapy was significant although treatment was started late due to financial constraints.