McCune-Albright syndrome--the German experience.

The classical McCune-Albright syndrome (MAS) consists of peripheral precocious puberty (PPP), fibrous bone dysplasia and cafe-au-lait spots. We conducted a survey among pediatric endocrinologists in Germany, Austria and Switzerland, most of them participating in the German Working Group for Pediatric Endocrinology (APE). Thirty-three physicians reported 58 patients. A detailed questionnaire yielded extensive data from 41 patients. Patients (36 females, 5 males) were diagnosed between the 4 t h week of life and 8 years. Symptoms included precocious puberty (37 patients), cafe-au-lait spots (35), fibrous bone dysplasia (32), hyperthyroidism (5), liver disease (5), phosphate wasting (4), GH hypersecretion (3), anemia in infancy (2), hyperprolactinemia (1), and Cushing's disease (1). Therapy of PPP included testolactone (15), tamoxifen (7), cyproterone acetate (CPA) (5), anastrozole (1) and exemestane (1). Testolactone, tamoxifen and CPA showed varying degrees of clinical remission; none was unanimously effective, but side effects were very rare. New aromatase inhibitors were not well validated in MAS. Eleven children received bisphosphonate therapy (pamidronate i.v. q 3 months) for fibrous bone dysplasia. Pamidronate was well tolerated, and pain improved when present, but data on preventive effects are not yet available. In conclusion, this survey describes a large cohort of patients with MAS, many with severe clinical problems, including major physical handicaps. Our results show that there is no 'gold standard' for the therapy of PPP; tested treatment regimens are not ideal, and new aromatase inhibitors need to be evaluated in controlled studies. Pamidronate was well tolerated, but preventive effects on bone dysplasia have not yet been proven.