The patient now aged 28, was seen at the age of 8 years by an ophthalmologist when he fell down stairs and complained that he could not see from his right eye. He was confirmed to have optic disc hypoplasia in his right eye with acuity of 2/60. A CT scan of his head was reported normal. He was also short statured with his height being on 3rd centile. He was suspected to have partial growth hormone deficiency on the basis of insulin tolerance test and patient was placed on growth hormone replacement at the age of 9 years after giving a diagnosis of septo-optic dysplasia (SOD). He achieved a final height of 178 cm, which was appropriate to his parental height. Growth hormone secretion was reassessed at the age of 19 years when a normal response was noted to glucagon and growth hormone treatment was discontinued. He was never found to have deficiency of any other pituitary hormones although he was treated with hydrocortisone for symptomatic benefit.
An insulin tolerance test performed at the age of 28 years is completely normal and MRI revealed a hypoplastic right optic nerve with intact septum pellucidum and normal pituitary with no intracerebal abnormality.
SOD is a congenital malformation syndrome manifested by hypoplasia of the optic nerve, hypopituitarism, and absence of the septum pellucidum. However, some children only have one or two of the three.
We will discuss the difficulties in diagnosing SOD with the description of the disorder. We will also highlight the importance of proper interpretation of dynamic pituitary tests prior to treatment initiation. The implications of misdiagnosing these patients will be emphasised to prevent long-term inappropriate hormonal treatment.