PO-0071 Role Of Growth Hormone Therapy In Clinical, Laboratory, Radiological Improvement Of Children With Vitamin-d Dependent Rickets Type-2

Abstract

chromosome 10p and monosomy 15q26.3->qter which contains the region coding for IGF1R. IGF-1(243 mg/L) and IGFBP-3 (3501 ng/ml) levels were markedly elevated; +4.7 SDS and +3.3 SDS respectively. The marked elevation in IGF-1 levels was considered a relative contraindication to GH therapy. Discussion Haploinsufficency of IGF1R gene is associated with elevated levels of IGF-1 as a result of target organ resistance. Exogenous growth hormone, while further elevating IGF-1, in many cases facilitates catch-up growth albeit to a lesser extent than other ex-SGA infants. In this case IGF-1 levels were exceptionally high, precluding growth hormone therapy. Conclusion Deletions involving the IGF1R gene are a rare but treatable cause of short stature. This case is unusual however, as marked elevation of IGF-1 at baseline precluded GH therapy.