Session: SUN 596-623-Case Reports: Pediatric Endocrinology & Metabolism
Poster Board SUN-603
Clinical Case: Our case was 9 month old when she presented with vaginal bleeding, bilateral breast tissue enlargement and Café au lait pigmentation at her back. So she was diagnosed initially as McCune Albright syndrome and sent for laboratory and radiological investigations.
Her bone age was 1 year , estradiol 335 pg/ml (n<25pg/ml), LH <1.5 IU/L (n:6.3-8.1IU/L) , FSH >1.5 IU/L(n:2.7-6.3) while FT4 ,TSH , hCG , Prolactin, ACTH, Cortisol , brain MRI, bone isotope scan, Ca, Po4, alk phosphatase all were normal. A lower abdominal mass was found and investigated by CT scan and ultrasound. Right ovarian tumor (6 x 4 x 4cm) was seen and diagnosed by biopsy as juvenile granulosa cell tumor. Right salpingoovarectomy was done and ketoconazole was given for a while before the family stopped it after she had improved.
At the age of 5, vaginal bleeding reemerged. Pelvis US and CT scan showed left ovarian cyst (4.3 cm) which proved by excisional biopsy to be benign follicular ovarian cyst. At this point, bone isotope revealed osteolytic lesions in both humeri, femur, left tibia and scapula due to polyostotic fibrous dysplasia.
Between the age of 5 and 8, while she was on ciproterone acetate and tamoxifen thereafter, her condition was fluctuating in regards to her pubertal stage, ovarian cysts and estrogen level. At age of 8years she started central puberty so she was put on GnRH analog, triptorelin .
To complete the picture of McCune-Albright syndrome, she developed at age of 10 left femur neck pathologic fracture due to polyostotic fibrous dysplasia.
Conclusion: McCune- Albright syndrome is a rare disease associated with endocrine hyperfunction and or tumors, Our case is the first reported case of McCune Albright syndrome associated with juvenile ovarian granulosa cell tumor which means that they can originate from the same activating GNAS1 gene mutation.
Nothing to Disclose: BMA
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