Clinical Analysis Of Two Cases With McCune-Albright Syndrome And Literature Review

Objective: To investigate the clinical characteristics of children with MAS and improve diagnosis and treatment of MAS.Methods: Analyse the history,clinical manifestation,auxiliary examination and treatment of two femal MAS cases with typical triad in detail,and review the relevant literature.Results: Both of the the two patients were born with café-au-lait spots and colporrhagia during infancy period was the first presenting symptom of the disease.Vaginal hemorrhage was presented at the age of 1year and 2months and the level of blood luteinizing hormone was below 0.1U/L,estradiol was 141.5pg/ml in patient 1.She was treated with letrozole to control peripheral precocious puberty,and then estrogen levels were reduced and the sexual characteristics subsided.Radioiodine therapy was applied in patient 1with hyperthyroidism because the effect of anti-thyroid drug was poor.Calcitriol was used in patient 1 with hypophosphatemia,and phosphate binders was intended to use in this kind of patient.Patient 1 had pathological fractures 2 times,oral bisphosphonates was used for the treatment of the skeletal lesions,vitamin AD and calcium were routinely supplied.Vaginal hemorrhage was presented at the age of 1 year and 11 months of patient 2.Patient 2 had undergone left ovarian cystectomy and then the sexual characteristics subsided.Recurrent vaginal bleeding happened and then she was diagnosed as McCune-Albright syndrome.Patient 2 was treated with tamoxifen at the beginning,and then switched to letrozole to control peripheral precocious puberty.LHRH stimulation test was applied after the recurrent vaginal bleeding.LHRH stimulation test showed the peak of LH was8.85 m IU/ml.Patient 2 was transformed to central precocious puberty and Gn RHa was applied to control secondary central precocious puberty.She hadbone pain and poly fibrous dysplasia(PFD),intravenous bisphosphonates was used in patient 2 to release the bone pain and prevent fracture.Bone metabolism index was significantly improved.Mutation analysis of peripheral blood of two cases were both negative.Conclusion: MAS is a systematic clinical syndrome caused by gene mutation with complicated clinical manifestations.A high index of suspicion is required in individuals with characteristic cafe-au-lait spots and endocrine dysfunction or pathologic fractures.Negative gene mutation results of peripheral blood cannot exclude MAS,the treatment is mainly symptomatic treatment,multi subject participation help to improve the prognosis.