GROWTH PATERNS AND ENDOCRINE STATUS IN CHILDREN WITH OPTIC NERVE HYPOPLASIA

Abstract

Optic nerve hypoplasia (ONH) is known to be associated with hypothalamic-pituitary dysfunction including growth hormone deficiency (hGH-D), panhypopituitarism and diabetes insipidus (DI). Previous series have focused on specific subgroups and probably did not include the full range of patients with ONH.We have examined growth and endocrine data on 66 subjects (38M, 23F) with ONH aged 1 to 33 yrs (mean 9.5 ± 7.3 yrs). Several distinct patterns of growth and erdocrine faction were found: 1) Normal height arbitrarily defined as rank ≥ 5% ile was present in 68%. All 7 adults were in this group demonstrating that at least some with ONH achieve normal adult height. 2) Growth failure occurred in 21 subjects (32%). Its onset was 2 years in 10/21, between 2 and 3 years in 4/21, and unknown in 7/21. This age of onset is younger than reported by G. Costin, et al. Growth hormone therapy was able to normalize the growth in 2 subjects. Among this subgroup 6/21 were hypothyroid, 8/21 had definite cortisol deficiency and 3/21 had spontaneous hypoglyoemia. hGH-D was documented in 21% of all ONH subjects, significant DI was present in 11% of subjects. Two additional abnormal growth patterns ware noted. 3) Early or precocious puberty occured in 4/21 growth deficient children, Directing the observation of C.A. Huseman, et al. 4) Progressive obesity and normal growth with hGH-D similar to craniopharyngioma occurred in 2 subjects.Conclusions: 1) Children with ONH should be followed carefully for emergence of growth and endocrine abnormalities from infancy. 2) A brief period of normal growth associated with puberty or obesity should not mislead the pysician into assuming later growth will be normal.