Presence of <i>GH1</i> and absence of <i>GHRHR</i> gene mutations in a large cohort of Argentinian patients with severe short stature and isolated GH deficiency

Juanes, Matías; Marino, Roxana; Ciaccio, Marta; Palma, Isabel Di; Ramírez, Pablo; Warman, Diana M.; Dona, Valeria De; Chaler, Eduardo; Maceiras, Mercedes; Rivarola, Marco A.; Belgorosky, Alicia

doi:10.1111/cen.12267

Cited by 7 publications

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“…GHRH-R mutations were not observed or were rare in several other populations. Mutations were not found among Dutch and Argentinean children with IGHD and were found only in three out of a cohort of 127 Japanese children, 14 with IGHD and 113 with idiopathic short stature [14][15][16]. Thus the lower prevalence of GHRH-R codon 72 mutation observed by us is not unexpected.…”

Section: Age Groups (Years) ≤5supporting

confidence: 44%

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

et al. 2016

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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

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