Abstract.A clinical diagnosis of septo-optic dysplasia (SOD) is made when two or more of the
classical triad of optic nerve hypoplasia, pituitary hormone abnormalities or midline
brain defects. To date, a clinical study of SOD, regarding its endocrinological features
in particular, has not been undertaken in Japan. We retrospectively evaluated 14 SOD
patients at our institution. Hormonal dysfunction was present in 78% of cases: ten cases
presented combined hypopituitarism and one case presented precocious puberty. GHD and
hypothyroidism were the most common endocrinopathies. A thin pituitary stalk and a gradual
decrease in hormone secretion were the main characteristics. SOD patients usually visited
ophthalmologists during early infancy because of eye problems; however, the medical
examination did not always lead to endocrine assessments being made. Consequently,
children who have eye problems with optic nerve hypoplasia should undergo head MRI
imaging. If diagnosed with SOD, it is very important to evaluate pituitary functions.
Their endocrinological status should be followed for a long time, even if they do not
exhibit any endocrinological problems at evaluation.