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McCune-Albright Syndrome in Infant with Growth Hormone Excess

Katarina Brzica1, Marko Simunovic1,2, Matea Ivancic3

  • 1Department of Pediatrics, University Hospital of Split, Spinciceva 1, 21000 Split, Croatia.

Genes
|August 26, 2022
PubMed

Insights

McCune-Albright syndrome is a rare genetic disorder. This case highlights the youngest patient diagnosed with growth hormone excess, showing a significant growth rate reduction after octreotide therapy.

Area of Science:

  • Pediatric Endocrinology
  • Rare Genetic Disorders
  • Endocrinology Research

Background:

  • McCune-Albright syndrome (MAS) is a rare genetic disorder caused by a mutation in the GNAS1 gene.
  • MAS is characterized by multiple endocrinopathies, including premature puberty, polyostotic fibrous dysplasia, and cafe-au-lait macules.
  • Growth hormone (GH) excess is a less common but significant manifestation of MAS.

Observation:

  • We report the youngest patient diagnosed with MAS and GH excess at 8.9 months of age.
  • Diagnostic procedures included hormonal assessment, oral glucose suppression test confirming GH excess, and pituitary MRI which ruled out a tumor.
  • Genetic analysis of the GNAS1 gene from skin biopsy was negative.

Findings:

  • The patient received octreotide therapy for GH excess at 9.8 months.
  • Octreotide treatment resulted in a marked decrease in the patient's growth rate, from 29.38 cm/year to 16.6 cm/year.
  • This case demonstrates the potential efficacy of octreotide in managing GH excess in infants with MAS.

Implications:

  • This case underscores the limited data on managing GH excess in pediatric MAS patients.
  • Further research is needed to establish optimal treatment protocols and long-term follow-up strategies for GH excess in pediatric MAS.
  • Early diagnosis and intervention are crucial for managing complex endocrine disorders in infants.
Abstract

Keywords:
McCune-Albright syndromecafe au lait maculesgrowth hormone excessoctreotide

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