Endocrine Abstracts

A 41 year old male patient presented to the endocrinology unit due to recurrent long bone fractures and teeth decay. His past medical history was nonsignificant for any chronic disease. He was a child of consanguineous marriage; his father and mother were first degree cousins. There were no other family members with similar phenotype or history of recurrent fractures He was 154 cm in height and weighed 58 kg. The arm span was 139 cm. Upper to lower segment ratio was 1.16. He had a beaky nose and frontal bossing. The nasopalatine canal was patent and incisive foramen were present as two seperate foramina. He had bilateral fractures of the mid-portion of the tibia cortex. He had normal puberty onset and secondary sexual development. He was not mentally retarded. He had abundant patchy yellow coloured mildly plaques over the torso, but he denied itching. We suspected cafe au lait spots. The dermatologist’ initial diagnosis was tinea versicolor, however fungal hyphae was absent upon potassium hydroxide examination of skin scrapings. Hepatosplenomegaly, nephrocalcinosis, and nephrolithiasis was absent. He had bilateral optic nerve atrophy and left-sided hearing loss; however temporal CT, orbita MRI, and cerebral MRI revealed no obvious entrapment. Cerebral calcification was also missing. Optic coherance tomography was compatible with optic atrophy. Pattern-reversal visual evoked potential revealed bilaterally (left side less than the right side) prolonged P100 latency. Sclerotic bones were evident on plain films of long bones of both upper and lower extremities, vertebrae, calvarium, and mandible. There was a fistula formation of left tooth root to the mandible but evidence of osteomyelitis was missing. High bone mineral density was detected on dual energy X ray absorptiometry (T score and Z score respectively for femur neck and lumbar vertebrae 1–4; +2.8, +3.4 and +6.8, +6.9). The laboratory data were as follows: ESR 19 mm/h (UNL 15 mm/h), CBC differential within normal limits, creatine kinase 69 U/l, LDH 232 U/l, reticulocyte 1.18% (UNL 3.00%), total bilirubin 0.26 mg/dl, ALT 13 U/l, AST 28 U/l, prothrombin time/INR 1.04, aPTT 31.6 sec, ALP 88 U/l, albumin 4.4 g/dl, phosphorus 3.8 mg/dl, glucose 89 mg/dl, total protein 7.5 g/dl, vitamin B12 144 pg/ml, creatinine 0.94 mg/dl, calcium 10.3 mg/dl, TSH 1.53 mU/l, 25 hydroxy vitamin D 15 ng/ml, parathyroid hormone 20 pg/ml. We think our case shares some features of mild-intermediate form of osteopetrosis and pycnodysostosis. Genetic testing has been planned and underway.