Hormonal, metabolic, and neuroradiologic abnormalities associated with septo-optic dysplasia.
The clinical, neuroradiologic, and endocrine features in 16 patients with septo-optic dysplasia are reviewed. All of the patients had clinical optic nerve hypoplasia with varying degrees of nystagmus and visual impairment. Only one-half of the patients had absence of the septum pellucidum. Fourteen children were growth hormone deficient, 9 were adrenocorticotrophic hormone deficient, 3 were thyroid-stimulating hormone deficient, and 4 had diabetes insipidus. In most instances, the diagnosis of septo-optic dysplasia can be established by physical examination and neuroradiologic findings, at which point a thorough evaluation of the hypothalamic-pituitary endocrine function is indicated because of the high incidence of hypopituitarism with this syndrome.
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000293:Adolescent; D000324:Adrenocorticotropic Hormone / Q000172:deficiency; D002648:Child; D002675:Child, Preschool; D003919:Diabetes Insipidus / Q000175:diagnosis; D005260:Female; D013006:Growth Hormone / Q000172:deficiency; D006801:Humans; D007018:Hypopituitarism / Q000175:diagnosis*; D007030:Hypothalamo-Hypophyseal System / Q000503:physiopathology*; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009460:Neurologic Examination; D009900:Optic Nerve / Q000002:abnormalities*; D011011:Pneumoencephalography; D012688:Septum Pellucidum / Q000002:abnormalities*; D012741:Sexual Maturation; D013972:Thyrotropin / Q000172:deficiency; D014057:Tomography, X-Ray Computed; D014786:Vision Disorders / Q000175:diagnosis
D000324:Adrenocorticotropic Hormone; D013972:Thyrotropin; D013006:Growth Hormone