Growth Hormone Deficiency in a Child with Neurofibromatosis-Noonan Syndrome

What this study adds?What is already knoWn on this topic?Short stature is a feature of NFNS; however, in some cases it can be caused by GHD and patients with NFNS who are not growing sufficiently should be evaluated for GHD.The case presented herein had clinical features of NFNS with a mutation in the NF1 gene.It is the first NFNS case reported in the literature with GHD, receiving growth hormone (GH) treatment, and reaching a successful final height under GH treatment.Neurofibromatosis-Noonan syndrome (NFNS) is a distinct entity which has variable features of both NF1 (neurofibromatosis 1) and Noonan syndrome (NS).Mutations in the NF1 gene were identified in majority of NFNS cases.Growth hormone deficiency (GHD) has been relatively frequently identified in NF1 and NS, there is limited experience with GHD in NFNS cases.