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- Title
Genetics Corner: Donohue Syndrome in a Small for Gestational Age Infant with Hyperinsulinemia.
- Authors
Tam, Jonathan; Chan, Tiffany; Vasquez, Herbert; Clark, Robin D.
- Abstract
Donohue syndrome, previously (but no longer) described as Leprechaunism, is a rare autosomal recessive trait. The primary defect in the insulin receptor causes extreme insulin resistance and failure to thrive with hyperinsulinemia, intermittent preprandial hypoglycemia, and persistent postprandial hyperglycemia. Impaired glucose metabolism causes prenatal and postnatal growth deficiency, dysmorphic facial features, visceromegaly, and lipoatrophy. A preterm male was born following an uneventful prenatal course with a birth weight of 1450 g, length of 40.5 cm, and head circumference of 32 cm. Apgar scores were 9 at one and 9 at five minutes. His postnatal course was complicated by recurrent episodes of abdominal distension and emesis with appropriate stooling, intermittent fasting hypoglycemia, and persistent postprandial hyperglycemia despite daily titrations in total parenteral nutrition. Glycemic fluctuations (20-230 mg/dl) were wide. The maximum serum insulin level was 1388 uIU/ml. With time, his dysmorphic features became more prominent. Echocardiogram identified a moderate ostium secundum atrial septal defect, mild dilation of the right ventricle, mild hypertrophy of the right ventricle, and mild pulmonary stenosis with doming. Gene testing for INSR identified two novel variants of uncertain significance.
- Subjects
GENETICS; HYPERINSULINISM; DONOHUE syndrome; SMALL for gestational age
- Publication
Neonatology Today, 2022, Vol 17, Issue 3, p146
- ISSN
1932-7129
- Publication type
Article
- DOI
10.51362/neonatology.today/2022173146150