Diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. 3 cases of 'DIDMOAD' syndrome.
Open Access
- 30 September 1977
- journal article
- research article
- Published by BMJ in Archives of Disease in Childhood
- Vol. 52 (10) , 796-798
- https://doi.org/10.1136/adc.52.10.796
Abstract
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.This publication has 8 references indexed in Scilit:
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