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Severe cortisol deficiency associated with reversible growth hormone deficiency in two infants: what is the link?

Rebecca McEachern1, Jacques Drouin, Louise Metherell

  • 1Endocrinology Service and Research Center, Department of Pediatrics, Centre Hospitalier Universitaire Sainte-Justine and University of Montréal, Montréal, Québec, Canada.

The Journal of Clinical Endocrinology and Metabolism
|July 15, 2011
PubMed

Insights

Congenital hypocortisolism can cause growth hormone deficiency (GHD) in infants. Glucocorticoid replacement is crucial for somatotroph development and resolving GHD, ensuring normal growth and preventing hypoglycemia.

Area of Science:

  • Pediatric Endocrinology
  • Molecular Genetics
  • Metabolic Disorders

Background:

  • Infantile hypoglycemia poses life-threatening risks, often linked to congenital deficiencies in cortisol and/or growth hormone (GH).
  • Accurate diagnosis and management are critical for infant health outcomes.

Observation:

  • Two infants presented with severe hypoglycemia, undetectable cortisol, and low GH levels.
  • Growth hormone deficiency (GHD) persisted despite initial cortisol replacement therapy.

Findings:

  • Genetic analysis revealed mutations in MRAP and TPIT genes, explaining the cortisol deficiency.
  • GH deficiency resolved with prolonged glucocorticoid replacement, indicating its role in somatotroph development.
  • GH replacement was successfully withdrawn, and infants experienced normal growth and puberty.

Implications:

  • Physiological glucocorticoid levels are essential for infant somatotroph development and function.
  • Eucortisolism is necessary for accurate GH secretory capacity assessment.
  • GH replacement is vital for maintaining normoglycemia in infants.
  • Molecular investigations are powerful tools for diagnosing and guiding treatment in infants with complex endocrine disorders.
Abstract

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