Neuroendocrine study of a male infant with septo-optic dysplasia

Abstract

Septo-optic dysplasia includes abnormalities of the optic nerves and tracts with absence of the septum pellucidum. Most of the recently reported patients were deficient in growth hormone. We describe a male infant with septo-optic dysplasia in whom extensive endocrine evaluation revealed central diabetes insipidus, hypothalamic hypothyroidism and combined (hypothalamic-pituitary) hypoadrenalism, along with normal pituitary growth hormone reserve. This is the first reported case of a patient with septo-optic dysplasia who underwent corticotropin-releasing factor and growth hormone-releasing hormone stimulation.