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Endocrine Abstracts (2020) 70 AEP133 | DOI: 10.1530/endoabs.70.AEP133

ECE2020 Audio ePoster Presentations Bone and Calcium (121 abstracts)

Prevalence and determinants of radiological vertebral fractures in a cohort of patients with Klinefelter syndrome

Walter Vena 1,2 , Alessandro Pizzocaro 1 , Myriam Amer 1 , Rita Indirli 2,3 , Filippo Maffezzoni 4 , Emanuele Ferrante 3 , Andrea Delbarba 4 , Luca Balzarini 5 , Alberto Ferlin 4 , Giovanna Mantovani 2,6 , Andrea Lania 5,6 & Gherardo Mazziotti 1,6


1Humanitas Research Hospital, Endocrinology, Diabetology & Medical Andrology Division, Rozzano (MI), Italy; 2University of Milan, Department of Clinical Sciences and Community Health, Italy; 3Fondazione IRCCS Ca’Granda Ospedale Maggiore Policlinico, Endocrinology Unit, Milan, Italy; 4University of Brescia, Endocrine and Metabolic Unit, Department of Clinical and Experimental Sciences, Brescia, Italy; 5Humanitas Clinical and Research Center, IRCCS, Department of Radiology, Rozzano, Italy; 6Humanitas University of Milan, Department of Biomedical Sciences, Italy


Klinefelter syndrome (KS) is a frequent form of male hypogonadism that may be associated with a series of comorbidities potentially affecting quality of life and survival. As a matter of fact, KS was shown to negatively impact skeletal health. However, the studies so far published on this topic were mainly focused on evaluation ofbone mineral density (BMD) and bone microstructure, whereas data on fracture risk are still lacking. In this cross-sectional study, we evaluated for the first time the prevalence and determinants of vertebral fractures (VFs), i.e. the hallmark of osteoporosis, in KS. Eighty-seven patients with KS(mean age 41 years, range 18–64) were consecutively evaluated for radiological VFs (by quantitative morphometry) and lumbar spine and femoral neck BMD (by DXA). Fifty KS patients with age ≥40 were also evaluated by the Fracture Risk Assessment (FRAX) tool. Seventy-three patients were undergoing testosterone replacement therapy (TRT; 45 with testosterone undecanoate, 25 with transdermic formulation and 3 with testosterone enanthate). Seventy-four patients were taking vitamin D (cholecalciferol and calcifediol in 54 and 20 patients, respectively; 17 patients in combination with calcium). Low BMD was found in 22 patients (12 with osteopenia, 3 with osteoporosis and 7 with “low BMD per age”), whereas no one resulted to be at increased risk for either major (> 10%) or hip fracture (>3%) by the FRAX algorithm. Thirteen patients presented VFs with a median spine deformity index (SDI) of 2 (range 1–9). Prevalence of VFs was similar between normal vs low-BMD patients (15.9% vs 13.6%; P = 0.80). Noteworthy, patients with VFs had significantly higher age at diagnosis of KS as compared to patients who did not fracture (33 years, range 15–47 vs 20 years, range 0–48; P = 0.03), without significant differencesin age at the time of observation (P = 0.16), body mass index (P = 0.25), TRT (P = 0.43), vitamin D therapy (P = 0.43), calcium supplementation (P = 0.69) and serum testosterone levels (P = 0.34). Moreover, patients with VFs were more likely to complain back pain in comparison to those without VFs (33.3% vs 7.4%; P = 0.03). In conclusion, this study provides a first evidence that KS may be associated with high risk of VFs in close relationship with delay in disease diagnosis and independently of BMD values and serum testosterone levels. Moreover, the association between VFs and back pain would suggest that VFs may have a clinical impact in KS, such as already reported in patients with primary male osteoporosis

Volume 70

22nd European Congress of Endocrinology

Online
05 Sep 2020 - 09 Sep 2020

European Society of Endocrinology 

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