title: Neonatal diabetes mellitus, enteropathy, thrombocytopenia, and endocrinopathy: Further evidence for an X-linked lethal syndrome.
abstract: We describe an unusual family with a fatal genetic syndrome of neonatal diabetes mellitus (DM), enteropathy, endocrinopathy, and severe infections with variable thrombocytopenia. All affected individuals are male; X-linked inheritance is likely. The most common clinical features are neonatal DM, inanition, and enteropathy; a variety of other autoimmune phenomena are less frequent. Clinical variability within and among families is common, including lack of one or more cardinal features. The syndrome is usually fatal, but survival is sometimes possible with immunosuppressive therapy. Clinical variability and frequent new mutations may contribute to poor recognition and underreporting of similar cases.
authors: Department of Molecular and Medical Genetics, Oregon Health Sciences University, Portland 97201-3098, USA.
authors: E
authors: E
authors: Levy-Lahad
authors: R S
authors: RS
authors: Wildin
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D003920:Diabetes Mellitus / Q000175:diagnosis / Q000235:genetics; D004700:Endocrine System Diseases / Q000175:diagnosis / Q000235:genetics; D005767:Gastrointestinal Diseases / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D007166:Immunosuppressive Agents / Q000627:therapeutic use; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D011379:Prognosis; D017678:Sex Distribution; D013577:Syndrome; D013921:Thrombocytopenia / Q000175:diagnosis / Q000235:genetics; D014960:X Chromosome / Q000235:genetics
chemical_list: D007166:Immunosuppressive Agents