Hypothalamic-Hypophyseal Dysgenesis as a Neuroimaging Correlate of Pituitary Hormone Deficiency in Anophthalmia

Purpose To document the association of neurohypophyseal dysgenesis with hypopituitarism in a child with primary bilateral anophthalmia. Methods An infant with bilateral anophthalmia underwent magnetic resonance imaging and endocrinologic evaluation. Results Magnetic resonance imaging showed dysgenesis confined to the hypothalamus and hypophyseal stalk. Endocrinologic testing showed low serum cortisol and pituitary gonadotropin levels. Conclusion Magnetic resonance imaging can help predict which children with anophthalmia will have endocrinologic deficiencies.