A variant of the "DIDMOAD" syndrome (diabetes insipidus, diabetes mellitus, optic atrophy and deafness).
A 29-year-old female with diabetes insipidus, deafness, a visual disorder and an abnormal glucose tolerance test, who gave birth to a healthy baby is described. Her male sibling is probably also similarly affected. These patients may represent previously unreported variants of the "DIDMOAD" (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness) syndrome. This is the first reported case of childbirth in an affected patient.
Friedman
E
E
Blau
A
A
Farfel
Z
Z
D000328:Adult; D001284:Atrophy; D003241:Consanguinity; D003638:Deafness / Q000150:complications / Q000235:genetics*; D048909:Diabetes Complications; D003919:Diabetes Insipidus / Q000150:complications / Q000235:genetics*; D003920:Diabetes Mellitus / Q000235:genetics*; D005123:Eye / Q000473:pathology; D005124:Eye Abnormalities; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D013577:Syndrome; D014786:Vision Disorders / Q000150:complications / Q000235:genetics*