Endocrine Abstracts

JOINT3385

Background: McCune–Albright syndrome (MAS) is a rare disease defined by the triad of fibrous dysplasia (FD), caféau lait spots, and peripheral precocious puberty (PP). There is little adult height data in patients with MAS and no management consensus. We describe the various clinical manifestations of 28 patients with MAS in China and assessed the treatment and adult height in five patients.

Methods: Patients’ clinical data—including peripheral PP, FD, and other endocrine problems were reviewed retrospectively. In addition, mutation in GNAS using blood and treatment experiences in five patients were described.

Results: The median age at diagnosis was 3 years 9 months (range: 20 months to 8 years). Twenty six patients were female, and two were male. Five patients showed FD. Twenty six patients showed peripheral PP at onset. Four cases had combined ovarian cysts. 8 cases received letrozole, 5 cases with subsequent addition of gonadotropin-releasing hormone analogs, and the mean age at initiation of treatment was 4. 6 years. Adult height data were available on 5 patients with MAS of whom 4 were treated. The average adult height of the 5 patients was 164. 5cm, this exceeds the average Chinese female height (160. 6cm). Five patients who underwent genetic testing for GNAS were positive.

Conclusion: This study provides valuable insights into MAS management in Chinese children, underscoring the potential efficacy of aromatase inhibitors in optimizing height outcomes. It highlights the need for standardized diagnostic criteria and tissue-based genetic testing. Future prospective studies with larger cohorts are warranted to validate these findings and refine treatment protocols.