Endocrine hypofunction in the McCune-Albright syndrome Tr. J. of Medical Sciences 28 (1998) 311-313 © TÜBİTAK 311 Received: May 1, 1998 Key Words: Endocrine hypofunction, polyostotic fibrous dysplasia, McCune- Albright syndrome Enver ALTAŞ 1 Erhan VAROGLU 2 Necdet ÜNÜVAR 3 Pınar POLAT 4 İbrahim İYİGÜN 5 Zekai ERMAN 6 Mustafa YILDIRIM 2 Departments of 1 Otorhinolaryngoloy, 2 Nuclear Medicine, 3 Endocrinology, 4 Radiology, 5 Neurology, 6 Pathology, School of Medicine, Atatürk University, Erzurum-Turkey Recognition of fibrous dysplasia as a specific disease entity began with a report of osteodytrophica fibrosa in a young female exhibiting cafe-au-lait pigmentation and precocious puberty. This syndrome, identified by Albright et al. (1), it is now referred to as MAS. Fibrous dysplasia may be monostotic (affecting a single bone) or polyostotic (affecting many bones) and is usually asymmetrical and often unilateral. The rib, femur, tibia, and maxilla are most commonly involved. Craniofacial involvement occurs in all of the severe polyostotic forms, but only in about 30 per cent of the monostotic forms (2). The aetiology of fibrous dysplasia is not clear, and several theories exist, including those of hormonal imbalance (1) and a mutant gene (G protein alfa subunit) whose protein product affects bone (3). In this case report, we discuss an interesting case with endocrine hypofunction and polyostotic fibrous dysplasia in light of the literature. This study involves a 31-year-old female with a 4-year history of painless swelling on the left side of the face , causing slight disfigurement, and spontaneous luxations of her teeth on the upper left side of the jaw and with a 27-year history of cafe-au-lait spots on the back and precocious puberty. The swelling present over the left anterolateral wall of the maxilla caused obliteration of the gingivo-buccal sulcus and left side of the hard palate. No neurological deficit was determined. She was 134 cm in height and weighed 45 kg. Basal hormone tests indicate decreased serum concentration of TSH, FT3, FT4, ACTH, and cortisol (THS: 0.3 µU/mL; FT3: 1.4 pg/mL; FT4: 0.4 µg/mL; ACTH: 3.2 pg/mL; cortisol: <1.0 µg/dL). In addition, there was no response of TSH to stimulation with TRH (400 µg iv), the responses of FSH and LH to stimulation with LHRH (100 µg iv) were normal, and the response of ACTH to stimulation with CRF (100 µg iv) was inadequate. The stimulation with exercise test performed on our case showed that basal hormone concentrations were in the normal range and GH responded normally. Althought serum concentrations of calcium, phosphate, and PTH were within normal limits, serum concentration of alkaline phosphatase was high. Radiological examinations, especially plain radiograms, revealed a thick and foreshortened femoral neck, known Shepherd’s crook deformity, was detected. Furthermore, the diaphyses ground glass appearance and dense medullary sclerosis. Spin-echo T1 weighted MR images revealed expanding lesions filling all of the left maxillary sinus, and a hypointense expanding lesion in the parietal bone and computed tomography smoky appearance at some localization on computed tomography was also detected. Anterior and posterior whole-body bone scintigraphy was performed with Tc- 99m MDP (technetium-99m methylene diphosphonate). The whole-body scan was a helpful technique for identifying polyostotic involvement in this patient. Anterior and posterior body images showed increased Tc- 99m MDP accumulation on the bilateral maxillar bones and left orbital roof, and inhomogenous uptake on the humeri, femurs, tibias and on tarsal bones symmetrically, and the right ribs (Figure 1). Short Report