Donohue syndrome: a new case with a new complication

Journal of Pediatric Endocrinology & Metabolism : JPEM
Rasha OdehAbdelkarim A Al-Qudah

Abstract

Donohue syndrome (DS) is a very rare autosomal recessive disease affecting less than one in a million live births. It represents the most severe form of insulin resistance due to mutations involving the insulin receptor gene. DS is characterized by pre- and postnatal growth retardation with failure to thrive, lipoatrophy, muscle wasting, acanthosis nigricans, hypertrichosis, and dysmorphic features. Glucose homeostasis is affected with hyperinsulinemia, fasting hypoglycemia, and postprandial hyperglycemia. We report a Jordanian patient with genetically proven DS who had the classical physical features, progressive hypertrophic cardiomyopathy, cholestasis, and hyperglycemia, followed by hypoglycemia. In addition, the patient developed polyuria and uremia despite normal creatinine levels, hypernatremia, and hypertension. To our knowledge, these metabolic derangements were not previously reported in patients with DS.

References

Jul 10, 2001·The Journal of Clinical Endocrinology and Metabolism·A L Ogilvy-StuartS O'Rahilly
May 4, 2011·Endocrine Reviews·Robert K SempleStephen O'Rahilly
Mar 16, 2013·The Journal of Clinical Endocrinology and Metabolism·Amy Anderson, Eugene J Barrett

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Citations

Mar 15, 2016·Journal of Pediatric Endocrinology & Metabolism : JPEM·Ons AzzabiAhmed Maherzi
Dec 23, 2016·Pediatric Diabetes·Eirini KostopoulouKhalid Hussain

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