McCune- Albright Syndrome and Juvenile Granulosa Cell Tumor: Do They Have the Same Origin?

Program: Abstracts - Orals, Featured Poster Presentations, and Posters
Session: SUN 596-623-Case Reports: Pediatric Endocrinology & Metabolism
Clinical
Sunday, June 16, 2013: 1:45 PM-3:45 PM
Expo Halls ABC (Moscone Center)

Poster Board SUN-603
Basim Mahmoud Al-Zoubi*
Prince Hamzah Hosp, Amman, Jordan
Introduction: McCune-Albright syndrome and the juvenile granulosa cell tumor are rare diseases. Both of them present usually with precocious pseudopuberty and are associated with activating mutation in the gene of the alpha subunit of the stimulatory G protein, but it has not been clear if they can result from the same mutation. No reported cases with these both diseases found in literature although this was looked for by researchers. 

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

*Please take note of The Endocrine Society's News Embargo Policy at http://www.endo-society.org/endo2013/media.cfm