pituitrin and Optic-Atrophy

Three children with diabetes insipidus, diabetes mellitus, optic atrophy, and high-tone deafness were shown to lack vasopressin, indicative of degeneration of the cells of the hypothalamic supraoptic nuclei. The syndrome being due to a single gene defect, inherited as an autosomal recessive, is therefore likely to be the result of an inborn error of metabolism with variable periods of latency in those affected.

Topics: Adolescent; Child; Deafness; Diabetes Insipidus; Diabetes Mellitus, Type 1; Humans; Male; Optic Atrophy; Syndrome; Vasopressins

A few rare syndromes have been delineated in which diabetes mellitus is inherited in association with other conditions. This paper describes five patients, including four siblings in one family, who have diabetes insipidus, diabetes mellitus, optic atrophy and deafness (the DIDMOAD syndrome). The parents of both families are normal but are first cousins. All the patients have insulin-dependent diabetes mellitus with a typical juvenile-onset. The onset of diabetes insipidus was insidious and the symptoms could easily have been ascribed to poor control of diabetes mellitus. The importance of diagnosing diabetes insipidus is that all these patients had dilatation of the urinary tract varying from mild hydroureter to severe hydronephrosis and this improved with treatment of the diabetes insipidus. It is suggested that patients with diabetes mellitus and optic atrophy should have regular screening tests for diabetes insipidus since it is likely that they represent cases of the full syndrome with incomplete clinical expression. The occurrence of this rare syndrome in four siblings of unaffected parents indicates that the syndrome is due to a recessive gene, but the pathogenesis is unknown.

Topics: Adolescent; Adult; Deafness; Diabetes Insipidus; Diabetes Mellitus; Female; Genes, Recessive; Humans; Hydronephrosis; Male; Optic Atrophy; Osmolar Concentration; Pedigree; Syndrome; Urinary Bladder; Urine; Vasopressins; Water Deprivation

Topics: 11-Hydroxycorticosteroids; Adult; Brain Diseases; Circadian Rhythm; Female; Humans; Hydrocortisone; Male; Metyrapone; Middle Aged; Optic Atrophy; Pituitary Neoplasms; Vasopressins

The vasopressin test gave pathological results in 12 cases of optic atrophy and normal results in three cases. One of the patients with a pathological response had Leber's disease and three had tobacco-alcholic amblyopia, while in the rest the optic atrophy was of uncertain origin. In the cases with normal results the aetiology was also unclear. The Metopirone test was normal in 13 cases and pathological in only one case of optic atrophy. In three out of five patients with optic neuritis the vasopressin test gave pathological responses. The high frequency of pathological vasopressin tests in patients with optic lesions indicates a simultaneous disturbance of the hypothalamo-hypophyseal function. The background to this might be a disturbed vascular supply. The vasopressin test was of no help in diagnosing tumours as a cause of optic atrophy.

Topics: Adolescent; Adult; Aged; Alcoholism; Amblyopia; Circadian Rhythm; Female; Humans; Hydrocortisone; Hypothalamo-Hypophyseal System; Male; Metyrapone; Middle Aged; Nicotiana; Optic Atrophy; Optic Neuritis; Plants, Toxic; Scotoma; Smoking; Vasopressins

Topics: Acromegaly; Adenoma, Chromophobe; Craniopharyngioma; Female; Headache; Humans; Hypogonadism; Insulin; Iodine Radioisotopes; Male; Metyrapone; Optic Atrophy; Osteoporosis; Pituitary Neoplasms; Pituitary-Adrenal Function Tests; Skull Neoplasms; Thyroid Function Tests; Vasopressins; Vision Disorders

Topics: Adolescent; Chlorpropamide; Diabetes Insipidus; Diabetes Mellitus, Type 1; Genes, Recessive; Humans; Hypertonic Solutions; Male; Optic Atrophy; Osmolar Concentration; Sodium Chloride; Specific Gravity; Urine; Vasopressins

Topics: Adolescent; Adult; Child; Diabetes Insipidus; Diabetes Mellitus, Type 1; Female; Hearing Disorders; Humans; Karyotyping; Male; Optic Atrophy; Vasopressins