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Some effect of metformin on insulin resistance in an infant with leprechaunism

Mehmet Emre Atabek1, Ozgur Pirgon

  • 1Department of Pediatric Endocrinology and Diabetes, Faculty of Medicine, Selcuk University, Konya, Turkey. meatabek@hotmail.com

Journal of Pediatric Endocrinology & Metabolism : JPEM
|December 19, 2006
PubMed

Insights

Leprechaunism, a rare genetic disorder, causes severe growth issues and distinctive features. This case highlights a male infant with hyperglycemia, high insulin levels, and a partial response to metformin treatment.

Area of Science:

  • Endocrinology
  • Genetics
  • Pediatrics

Background:

  • Leprechaunism (Donohue syndrome) is a rare autosomal recessive disorder characterized by severe intrauterine and postnatal growth retardation, lipoatrophy, dysmorphic features, hirsutism, and acanthosis nigricans.
  • The condition is associated with insulin resistance and hyperinsulinemia, presenting significant challenges in management.

Observation:

  • A 30-day-old male infant presented with multiple phenotypic anomalies consistent with leprechaunism, including low-set ears, prominent eyes, decreased subcutaneous fat, hirsutism, breast hyperplasia, and penile enlargement.
  • Laboratory investigations revealed persistent hyperglycemia with markedly elevated immunoreactive insulin levels.

Findings:

  • The infant's clinical presentation and biochemical profile confirmed the diagnosis of leprechaunism.
  • Treatment with metformin showed some efficacy in managing hyperglycemia, whereas insulin glargine had no observable effect.

Implications:

  • This case underscores the complex endocrine dysregulation in leprechaunism, particularly the paradoxical hyperinsulinemia despite insulin resistance.
  • The partial response to metformin suggests a potential therapeutic avenue, warranting further investigation into metabolic management strategies for this rare condition.

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