2 siblings were referred for evaluation fo short stature and failure to thrive. Both were born of 3rd degree consanguinity, first and second in birth order. the first sibling was 2 1/2 year old at time of referral and had birthweight of 3.1 kg and had gross motor delay. Present height was 65 cm (SDS −6.2 S.D.)and weight was 6 kg (<3rd centile) Second sibling was 1.5 years old, with gross motor delay with height of 57 cm (SDS −6.5 S.D.) and weight was 4.3 kg (<3rd centile). Mid-parentalheight was 153.4 cm. Head circumference was 45 cm in older sibling and 44 cm in younger sibling, both less than 2 S.D. for age. Intelligence was normal in both siblings. Both siblings had doll like facies with mid facial hypoplasia, frontal bossing and micrognathia and no other midline defects. There was also also no evidence of hypoglycemia. Routine investigations were normal and bone age was 2 years. Blood glucose levels were normal. IGF1 was very low (<25 ng/ml) in both siblings. Basal GH was 61.85 ng/ml in the first sibling and 50 ng/ml in the second sibling. Genetic analysis revealed a homozygous deletion in Exon 7 of GH Receptor Gene in both children but the parents were unaffected. The parents were apprised about the need for treatment with IGF1 and have applied for a grant from the government. The mutation identified in this case appears to be a novel mutation with no similar deletions in Exon 7 being reported in published literature. A similar case had been detected in West India with genetic analysis done at the same centre, but was not reported. Most mutations in GH insensitivity arise from EXON 3 OF GH receptor. This case report illustrates the fact that ethnic differences might lead to novel mutations in distinct population sub-groups and case finding needs to be targeted to reveal further new mutations in the GH receptor.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology