McCune-Albright Syndrome in Infant with Growth Hormone Excess

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.