A Case of Functional Growth Hormone Deficiency and Early Growth Retardation in a Child With IFT172 Mutations

Abstract

This is the first reported case of a child with a mutation in IFT172 who presented with growth retardation in early childhood and was initially managed as a case of functional GH deficiency that responded to rhGH therapy. This case highlights the importance of ciliary function in pituitary development and the link between early onset growth failure and ciliopathies.