Presenting features and long-term effects of growth hormone treatment of children with optic nerve hypoplasia/septo-optic dysplasia

Demographic and longitudinal data from KIGS, the Pfizer International Growth Database, were compared between 395 subjects with ONH/SOD and CGHD and 158 controls with CGHD without midline pathology.ONH/SOD subjects had higher birth length/weight, and mid-parental height SDS. At GH start, height, weight, and BMI SDS were higher in the ONH/SOD group. After 1 year of GH, both groups showed similar changes in height SDS, while weight and BMI SDS remained higher in the ONH/SOD group. The initial height responses of the two groups were similar to those predicted using the KIGS-derived prediction model for children with idiopathic GHD. At near-adult height, ONH/SOD and controls had similar height, weight, and BMI SDS.Compared to children with CGHD without midline defects, those with ONH/SOD presented with greater height, weight, and BMI SDS. These differences persisted at 1 year of GH therapy, but appeared to be overcome by long-term GH treatment.Optic nerve hypoplasia (ONH) is a congenital anomaly often associated with hypopituitarism and brain malformations. It is relatively rare, with an incidence of 1 in 10,000 live births, and it equally affects boys and girls [1]. The term septo-optic dysplasia (SOD), historically and even today, is widely used interchangeably with that of ONH. However, it is now known that absence of the septum pellucidum per se does not confer increased risk for growth hormone (GH) deficiency alone or as a component of hypopituitarism in children with ONH [2,3].In a study of 47 subjects [age (mean ± SD) 15.2 ± 10.6 months] with ONH followed until 59.0 ± 6.2 months of age, Ahmad, et al reported a prevalence of endocrinopathies of 71.7% (including 64.1% with GH-IGF-I axis abnormalities); these were not associated with ONH laterality, absence of septum pellucidum, or pituitary abnormalities on neuro-imaging [2]. The only prior large, long-term study looking at growth outcomes in children described as having SOD treated with GH included 582 children enr