Neuroendocrine study of a male infant with septo-optic dysplasia.
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.
D000311:Adrenal Glands / Q000503:physiopathology; D000309:Adrenal Insufficiency / Q000150:complications / Q000503:physiopathology; D000328:Adult; D002552:Cerebral Ventricles / Q000002:abnormalities; D014695:Cerebral Ventriculography; D003919:Diabetes Insipidus / Q000150:complications / Q000503:physiopathology; D005260:Female; D006801:Humans; D007030:Hypothalamo-Hypophyseal System / Q000503:physiopathology*; D007037:Hypothyroidism / Q000150:complications / Q000503:physiopathology; D007231:Infant, Newborn; D008297:Male; D009900:Optic Nerve / Q000002:abnormalities* / Q000473:pathology; D012688:Septum Pellucidum / Q000002:abnormalities* / Q000000981:diagnostic imaging; D013577:Syndrome; D014057:Tomography, X-Ray Computed