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Ann Pediatr Endocrinol Metab > Volume 6(2); 2001 > Article
McCune-Albright Syndrome Misdiagnosed as Ovarian Granulosa-Theca Cell Tumor.
Sung Yeon Choi, Eun Gyong Yoo, Duk Hee Kim, Woo Ick Yang
Abstract
McCune-Albright syndrome, which consists of cafe-au lait spots, multiple fibrous dysplasia, sexual precocity and endocrinal dysfunction such as pituitary, thyroid and adrenal aberrations, has been increasingly recognized recently. The etiology is now suggested that activating mutations on the gene that encodes the alpha subunit of stimulatory G protein cause McCune-Albright syndrome. The child presented with sexual precocity and elevated estrogen level was still persisted after left oophorectomy and right partial oophorectomy due to misdiagnosed as ovarian granulosa-theca cell tumor. Whole body bone scan revealed abnormal radiotracer uptake on left facial bone and left proximal femur. Facial bone MRI showed marked thickening of facial bone from fibrous dysplasia. And the patient had cafe-au-lait pigmentations on neck and buttock area. Other endocrine function was normal. Pathologic finding of ovary was finally confirmed with cystic follicles. Skull biopsy revealed fibrous dysplasia. And she was finally diagnosed McCune-Albright syndrome.
Keywords: Cafe-au-lait spot;Ovarian granulosa cell tumor;McCune-Albright syndrome
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