Background: McCune-Albright syndrome (MAS) is a rare, heterogenous, clinical condition caused by a rare genetic mutation. The disorder is more common in females and is characterized by a triad of cutaneous, bone and endocrine abnormalities.
Case Presentation: We report a girl with MAS, presenting initially with vaginal bleeding at the age of 12 months. Ultrasonography revealed bilateral ovarian cysts and ureteral and ovarian enlargement. Bone age rapidly advance, growth spurt. Considering the clinical and paraclinical findings, the patient diagnosed as a case of gonadotropin-independent precocious puberty was treated with Tamoxifen. During the follow up, recurrent episodes of bleeding, ovarian activation and cyst formation, as well as breast size development were reported. At the age of 2 years, fibrous dysplasia was detected, which in coexistence with precocious puberty confirmed the diagnosis of MAS. The patient had cafe-au-lait skin stomach during follow up.
Conclusion: Considering that clinical manifestations of MAS appear later in the course of recurrent periods of ovarian activation and cyst formation, a careful clinical observation and follow up of patients is necessary and the diagnosis of MAS must be kept in mind in cases with gonadotropin-independent precocious puberty.
Keywords: McCune-Albright Syndrome, Bleeding, Fibrous Dysplasia of Bone, Precocious Puberty
27 - 29 Sep 2018
European Society for Paediatric Endocrinology