McCune-Albright syndrome--the German experience

Area of Science:

• Pediatric Endocrinology
• Genetics and Genetic Diseases
• Endocrine Disorders

Background:

• McCune-Albright syndrome (MAS) is a rare genetic disorder characterized by peripheral precocious puberty (PPP), fibrous bone dysplasia, and café-au-lait spots.
• The management of MAS, particularly PPP, presents challenges due to the lack of standardized treatment protocols.

Purpose of the Study:

• To survey pediatric endocrinologists in Germany, Austria, and Switzerland regarding their management strategies and patient outcomes for MAS.
• To evaluate the efficacy and tolerability of different therapeutic interventions for PPP and fibrous bone dysplasia in a large cohort of MAS patients.

Main Methods:

• A detailed questionnaire was distributed to pediatric endocrinologists, collecting data on 41 diagnosed MAS patients.
• Data included patient demographics, clinical manifestations, and therapeutic interventions for PPP and fibrous bone dysplasia.

Main Results:

• The cohort included 36 females and 5 males, diagnosed between the 4th week of life and 8 years.
• Common symptoms included PPP, café-au-lait spots, and fibrous bone dysplasia. Other manifestations like hyperthyroidism and liver disease were also reported.
• Therapies for PPP (testolactone, tamoxifen, cyproterone acetate) showed variable clinical remission with rare side effects. Bisphosphonate therapy (pamidronate) for fibrous bone dysplasia was well-tolerated, improving pain but with unproven preventive effects.

Conclusions:

• There is no established 'gold standard' for MAS treatment, particularly for PPP, necessitating further research and controlled studies for novel therapies like aromatase inhibitors.
• Pamidronate is a safe option for managing symptoms of fibrous bone dysplasia, but its long-term efficacy in preventing bone deformities requires further investigation.