Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0848576 (breast hyperplasia)
 35 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Leprechaunism was first recognized in 1954 and is characterized by severe intrauterine and postnatal growth retardation, failure to thrive, lipoatrophy, dysmorphic features (globular eyes, large ears, and micrognathia), hirsutism and acanthosis nigricans. The presented infant, a 30 day-old boy, had multiple phenotypic anomalies, including low-set ears, prominent eyes, decreased subcutaneous fat, hirsutism, breast hyperplasia, and penile enlargement. We found persistent hyperglycemia with remarkably high immunoreactive insulin levels. His phenotypic and laboratory features were consistent with a diagnosis of leprechaunism. We observed some effect of treatment with metformin but not with insulin glargine.
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PMID:Some effect of metformin on insulin resistance in an infant with leprechaunism. 1717 88