Hypothalamic-pituitary functions in patients with transsphenoidal encephalocele and midfacial anomalies.

We have studied hypothalamic-pituitary functions in two patients with transsphenoidal pituitary herniation associated with midfacial anomalies. Both had a defect in the floor of the sella turcica. The male patient had short stature and a low plasma GH level with no response to arginine infusion and insulin-induced hypoglycemia. Both patients were euthyroid and showed normal plasma TSH responses to TRH. Serum PRL levels were borderline high in both, and one patient had a delayed, but excessive, PRL response to TRH. Neither patient had evidence of adrenal insufficiency, hypogonadotrophic-hypogonadism, diabetes insipidus, or a visual field defect. One patient had mild to moderate mental retardation. The parents of the patients were known to be consanguineous. The cases demonstrate the need to evaluate the anatomy of the sella turcica and hypothalamic-pituitary functions in patients with midfacial anomalies.