Introduction: Central precocious puberty (CPP) needs treatment to minimise the psychosocial impact and optimize the auxological outcome. Objective: To analyse the growth pattern and outcome of gonadotrophin releasing hormone analogue (GnRHa) therapy in a cohort of children with CPP Method: Heights were serially recorded, skeletal age monitored and height velocities calculated in children with CPP prospectively followed up from presentation to cessation of therapy with GnRHa. The response to treatment was assessed as the height standard deviation scores (SDS), ratio of chronological age to bone age and reduction of height velocity with treatment and the significance was determined using the paired 't' test and ANOVA. Their heights when last seen were compared with their predicted mature heights and target heights which were calculated based on the bone age prior to treatment and the parents' heights respectively. Results: There were 9 patients (8 girls) with a mean age of 56.4 (19.1) and 124.2 (15.2) months at onset and completion of treatment respectively. There was a significant reduction in the height SDS, bone age acceleration and height velocity with treatment. The heights at final assessment were acceptable for the national average in the majority. Conclusion: There was a significant reduction in the height SDS, bone age acceleration and height velocity in the cohort of children with CPP treated with a GnRHa.
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. ConclusionsPrevalence 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. Growth hormone releasing hormone receptor codon 72 mutation in a cohort of Sri Lankan patients with growth hormone deficiency
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.
ObjectivesThe 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 Method 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
IntroductionRecombinant human GH (r-hGH) has been used in the treatment of children with growth hormone deficiency (GHD) since 1985 with a good safety profile [1,2,3]. Safety surveillance programme which included more than 60,000 children from 50 countries concluded that r-hGH was a safe and effective replacement therapy [4].Most of those diagnosed with GHD in Sri Lanka did not receive GH treatment until 2009 when it was made available free in state hospitals. This is the first report
Department of Paediatrics, Faculty of Medicine, University of Colombo, Sri Lanka.Correspondence: KSHdeS, e-mail:
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