Cleft Lip and Chorioideal Coloboma Associated with Multiple Hypothalamo-Pituitary Dysfunctions

Abstract

A 17-year-old male patient is reported who, in addition to cleft lip and GH deficiency, presents with coloboma of the right chorioidea and optical nerve, secondary hypothyroidism, central diabetes insipidus, and lack of increase of urinary epinephrine after insulin-induced hypoglycemia. Both secondary hypothyroidism and central diabetes insipidus were clinically manifested only after onset of GH therapy. It is suggested that the syndrome is of teratogenic origin during an early gestational period, but a small, slowly expanding organic lesion cannot be excluded with certainty by clinical means. Patients with split lip or palate or optical coloboma should be screened for hypothalamo-pituitary dysfunction, and patients with anterior or posterior hypopituitarism should be examined for possible coloboma of the optical background.