Bone fragility is recognized as one of the major comorbidities in Turner syndrome (TS). The mechanisms underlying bone impairment in affected patients are not clearly elucidated, but estrogen deficiency and X-chromosomal abnormalities represent important factors. Moreover, although many girls with TS undergo recombinant growth hormone therapy to treat short stature, the efficacy of this treatment on bone mineral density is controversial. The present review will focus on bone fragility in subjects with TS, providing an overview on the pathogenic mechanisms and some prevention strategies.
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http://dx.doi.org/10.3389/fendo.2016.00034 | DOI Listing |
Endocrinol Diabetes Metab Case Rep
January 2025
Summary: Hypophosphatasia (HPP) is a genetic disorder due to pathological variants in ALPL, the gene encoding tissue-nonspecific alkaline phosphatase (ALP). HPP is typically associated with bone-related symptoms, such as bone deformity, fractures and bone pain in children, but can appear in adults with symptoms resembling arthritis. A 22-year-old male experienced repeated and severe sudden attacks of joint pain in the elbows and knees.
View Article and Find Full Text PDFRadiol Case Rep
March 2025
Department of Radiology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Osteopetrosis is a rare genetic disorder that leads to increased bone density and fragility due to dysfunctional osteoclasts, which can result in narrowed bone marrow spaces, hardened cartilage, and brittle bones. This condition frequently coexists with osteoarthritis among affected individuals. When osteoarthritis results in significant pain and impairs function, surgical interventions such as total joint arthroplasty may be recommended, although these procedures come with a unique set of surgical and recovery-related hurdles.
View Article and Find Full Text PDFJCEM Case Rep
February 2025
First Department of Internal Medicine, Wakayama Medical University, Wakayama City, Wakayama 641-8509, Japan.
Tumor-induced osteomalacia is characterized by hypophosphatemia and fragility fractures caused by fibroblast growth factor 23 (FGF23)-producing tumors. We report a case of tumor-induced osteomalacia in which the tumor location could be determined by gallium 68 (Ga)-DOTATOC positron emission tomography (PET)/computed tomography (CT). A 74-year-old woman had recurrent fractures and bone pain.
View Article and Find Full Text PDFBone
January 2025
Department of Paediatric Endocrinology, Royal Hospital for Children, Glasgow, United Kingdom; School of Medicine, Dentistry & Nursing, University of Glasgow, United Kingdom. Electronic address:
Background: Long term glucocorticoid treatment in Duchenne Muscular Dystrophy (DMD) is associated with a high incidence of fragility fractures. This systematic review aims to assess the current evidence for pharmacological and non-pharmacological treatment for osteoporosis in children and adults with DMD.
Methods: Three online databases (Embase, Medline, Cochrane Library) were searched for studies that evaluated interventions for treatment or prevention of osteoporosis in DMD.
Bone
January 2025
ARTORG Centre for Biomedical Engineering Research, University of Bern, Bern, Switzerland.
Osteoporosis is the most common bone metabolic unbalance, leading to fragility fractures, which are known to be associated with structural changes in the bone. Cortical bone accounts for 80 % of the skeleton mass and undergoes remodeling throughout life, leading to changes in its thickness and microstructure. Although many studies quantified the different cortical bone structures using CT techniques (3D), they are often realised on a small number of samples.
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