Evidence for a hypothalamic defect in septo-optic dysplasia.
A 21-year-old man demonstrated septo-optic dysplasia. Optic and retinal colobomas were present and panhypopituitarism was documented. Releasing hormone studies showed partial luteinizing hormone (LH) response and no follicle-stimulating hormone response to administration of gonadorelin (LH-releasing hormone); thyroid-stimulating hormone (TSH) and prolactin levels were increased normally after administration of protirelin (thyrotropin-releasing hormone). The LH, TSH, and  prolactin responses are believed to be evidence of intact pituitary function and suggest that a hypothalamic defect accounts for the hypopituitarism.
D000328:Adult; D001927:Brain Diseases / Q000150:complications; D003103:Coloboma / Q000150:complications; D006801:Humans; D007018:Hypopituitarism / Q000209:etiology*; D007031:Hypothalamus; D008297:Male; D009900:Optic Nerve / Q000002:abnormalities*; D012688:Septum Pellucidum / Q000002:abnormalities*; D013577:Syndrome