• Weiping Li and Ruizhi Mai.
• Clin Lab. 2014 Jan 1; 60 (2): 315-7.

AbstractDonohue syndrome, a rare autosomal recessive disorder, is associated with the mutation of the insulin receptor gene in the short arm of the 19th chromosome. It is very rare that a syndrome of insulin resistance resembles Donohue syndrome with patent ductus arteriosus. A 14-year-old girl, whose parents were consanguineous, was often admitted for abdominal pain over the past 8 years. She presented not only polydipsia, polyphagia, and weight loss but also small elfin face, distended abdomen, enlarged clitoris, hypertrichosis, acanthosis nigricans of the neck, decreased subcutaneous fat and 3/6 continuous murmur radiating to the right shoulder with thrill on 2nd to 3rd left sternal border. In addition, she had hyperglycemia, hyperinsulinism, and patent ductus arteriosus by laboratory examination and echocardiography, respectively. This child shows insulin resistance resembling Donohue syndrome with patent ductus arteriosus. Most of patients with Donohue syndrome die prematurely. The child surviving for a long time may have a milder form of Donohue syndrome and may be due to a less severe form of the defective gene. Chromosomal abnormalities may be also associated with this disease.

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