ECE2017 Guided Posters Adrenal 3 (12 abstracts)
Multiple pathologic fractures as the presenting manifestation of Cushing’s syndrome in patients with vitamin D receptor FokI gene polymorphism
Vasiliki Daraki 1 , Paraskevi Floroskoufi 1 , Theodoros Liarigkovinos 1 , Maria Chrysoulaki 1 , Vasilios Tsamadias 2 , Emmanuel Economou 2 & Stathis Papavasiliou 1
1Department of Endocrinology Diabetes and Metabolic Diseases, University Hospital of Crete, Heraklion, Greece; 2Laboratory of therapeutic individualization, University of Athens, Aretaieio University Hospital, Athens, Greece.
Rare cases of Cushing’s syndrome have been diagnosed only based upon bone manifestations. Fracture risk is related to individual susceptibility to glucocorticoids that is genetically determined by several factors, including VDR gene polymorphism.
We report three patients with VDR FokI gene polymorphism and multiple non-traumatic pathologic fractures as the presenting manifestation of Cushing’s syndrome.
The second case is a 44-year-old woman who presented with pain in the left hip. She reported weight gain (25 kg) in the last 6 years, depression, fatigue, and muscle weakness. MRI revealed fracture in the left hip, while bone scintigraphy showed multiple non-traumatic micro-fractures in ribs and right femur.
The third case is a 64-year-old woman presented with recurrent rib and low extremities fractures the last 10 years. She also suffered from depression and hypercholesterolemia.
Dual-energy X-ray absorptiometry (DXA) revealed severe osteoporosis in all patients. Additionally laboratory tests and imaging techniques confirmed the diagnosis of Cushing’s syndrome due to an adrenal mass. Further investigation for FokI and Bsm polymorphism of VDR gene by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) analysis showed that all patients had the ff genotype of the VDR FokI gene.
Discussion: VDR FokI gene polymorphism correlates significantly with an increased rate of bone loss in ff postmenopausal women. However data of its functional significance on glucorticoid-induced osteoporotic fractures is lacking so far. We report for the first time an association between the ff genotype and multiple non-traumatic fractures as the predominant manifestation of Cushing’s syndrome. Our findings suggest that VDR FokI gene polymorphism may increase fracture risk in ff subjects with endogenous hypercortisolism.
Volume 49
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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