Journal articleArch Osteoporos · March 5, 2026
UNLABELLED: This study sought to assess rates of osteoporosis treatment following an index fragility vertebra, femur, or pelvic fracture at a US academic medical center. The results highlight persistent low treatment rates following fracture and emphasize ...
Full textLink to itemCite
Journal articleJ Bone Miner Res · November 29, 2025
X-linked hypophosphatemia (XLH) is a rare disorder of renal phosphate wasting and dysregulated active vitamin D metabolism, ultimately presenting as rickets and osteomalacia, among other manifestations. Lower extremity deformity (genu valgum and/or varum) ...
Full textLink to itemCite
Journal articleJ Clin Pharmacol · February 2025
X-linked hypophosphatemia (XLH) is a rare genetic disorder caused by excessive fibroblast growth factor 23 (FGF23), leading to low serum phosphate levels resulting in increased risk of fractures and pseudofractures. Burosumab is indicated for the treatment ...
Full textLink to itemCite
Journal articleJ Clin Endocrinol Metab · December 17, 2022
CONTEXT: Burosumab was developed as a treatment option for patients with the rare, lifelong, chronically debilitating, genetic bone disease X-linked hypophosphatemia (XLH). OBJECTIVE: Collect additional information on the safety, immunogenicity, and clinic ...
Full textLink to itemCite
Journal articleEur J Clin Pharmacol · October 2022
PURPOSE: Clinical research relies on data from patients and volunteers, yet the target sample size is often not achieved. Here, we assessed the perception of clinical research among clinical trial participants to improve the recruitment process for future ...
Full textLink to itemCite
Journal articleCalcif Tissue Int · October 2022
The anti-fibroblast growth factor 23 monoclonal antibody burosumab corrects hypophosphatemia in adults with X-linked hypophosphatemia (XLH) and improves pain, stiffness, physical function, and fatigue. This post hoc subgroup analysis used data from the 24- ...
Full textLink to itemCite
Journal articleJ Endocr Soc · September 1, 2021
PURPOSE: Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome of abnormal phosphate and vitamin D metabolism caused by typically small endocrine tumors that secrete fibroblast growth factor 23 (FGF23). TIO is characterized clinically by progr ...
Full textLink to itemCite
Journal articleRMD Open · September 2021
OBJECTIVES: To report the impact of burosumab on patient-reported outcomes (PROs) and ambulatory function in adults with X-linked hypophosphataemia (XLH) through 96 weeks. METHODS: Adults diagnosed with XLH were randomised 1:1 in a double-blinded trial to ...
Full textLink to itemCite
Journal articleJ Bone Miner Res · April 2021
Tumor-induced osteomalacia (TIO) is caused by phosphaturic mesenchymal tumors producing fibroblast growth factor 23 (FGF23) and is characterized by impaired phosphate metabolism, skeletal health, and quality of life. UX023T-CL201 is an ongoing, open-label, ...
Full textLink to itemCite
Journal articleJAMA · February 4, 2020
IMPORTANCE: Intravenous iron enables rapid correction of iron-deficiency anemia, but certain formulations induce fibroblast growth factor 23-mediated hypophosphatemia. OBJECTIVE: To compare risks of hypophosphatemia and effects on biomarkers of mineral and ...
Full textLink to itemCite
Journal articleCalcif Tissue Int · September 2019
Burosumab, a fully human monoclonal antibody to FGF23, is the only approved treatment for X-linked hypophosphatemia (XLH), a rare genetic disorder characterized by renal phosphate wasting and substantial cumulative musculoskeletal morbidity. During an init ...
Full textLink to itemCite
Journal articleAIDS Res Hum Retroviruses · August 2019
Both HIV infection and tenofovir disoproxil fumarate (TDF) treatment adversely impact bone metabolism and may lead to osteopenia, which has critical implications for youth with HIV (YWH). This study evaluates changes in the biomarkers of bone metabolism an ...
Full textLink to itemCite
Journal articleJ Bone Miner Res · August 2018
In X-linked hypophosphatemia (XLH), inherited loss-of-function mutations in the PHEX gene cause excess circulating levels of fibroblast growth factor 23 (FGF23), leading to lifelong renal phosphate wasting and hypophosphatemia. Adults with XLH present with ...
Full textLink to itemCite
Journal articleMetabolism · September 2017
CONTEXT: A subset of PHPT patients exhibit a more severe disease phenotype characterized by bone loss, fractures, recurrent nephrolithiasis, and other dysfunctions, but the underlying reasons for this disparity in clinical presentation remain unknown. OBJE ...
Full textLink to itemCite
Journal articleBone Rep · December 2016
UNLABELLED: X-linked hypophosphatemia (XLH) is characterized by lower extremity deformities that lead to bone and/or joint pain that result from decreased renal tubular reabsorption leading to hypophosphatemia caused by elevated levels of fibroblast growth ...
Full textLink to itemCite
Journal articleBone Rep · December 2016
INTRODUCTION: Hypophosphatasia, a metabolic bone disease caused by a tissue-nonspecific alkaline phosphatase deficiency, leads to undermineralization of bone and/or teeth, impaired vitamin B6 metabolism, and a spectrum of disease presentation. At the mild ...
Full textLink to itemCite
Journal articleMetabolism · October 2016
BACKGROUND: Hypophosphatasia (HPP) is a rare metabolic bone disease caused by loss-of-function mutation(s) in the tissue-nonspecific alkaline (TNSALP) phosphatase gene, which manifests as rickets and/or osteomalacia with systemic complications and affects ...
Full textLink to itemCite
Journal articleJ Clin Invest · March 1, 2016
Male osteoporosis is a multifactorial disease, although it is often in part related to hypogonadism. While testosterone replacement therapy has been shown to improve bone mineral density, studies have also linked bone loss and higher fracture risk in men t ...
Full textLink to itemCite
Journal articleJ Clin Pharmacol · February 2016
In X-linked hypophosphatemia (XLH), serum fibroblast growth factor 23 (FGF23) is increased and results in reduced renal maximum threshold for phosphate reabsorption (TmP), reduced serum inorganic phosphorus (Pi), and inappropriately low normal serum 1,25 d ...
Full textLink to itemCite
Journal articleJ Clin Endocrinol Metab · July 2015
CONTEXT: In X-linked hypophosphatemia (XLH), elevated fibroblast growth factor 23 (FGF23) decreases the renal tubular maximum reabsorption rate of phosphate/glomerular filtration rate (TmP/GFR) and serum inorganic phosphorus (Pi), resulting in rickets and/ ...
Full textLink to itemCite
Journal articleJ Clin Invest · April 2014
BACKGROUND: X-linked hypophosphatemia (XLH) is the most common heritable form of rickets and osteomalacia. XLH-associated mutations in phosphate-regulating endopeptidase (PHEX) result in elevated serum FGF23, decreased renal phosphate reabsorption, and low ...
Full textLink to itemCite
Journal articleJ Am Geriatr Soc · May 2013
OBJECTIVES: To compare the cost-effectiveness of population screening for vitamin D insufficiency with that of universal vitamin D supplementation in community-dwelling older adults. DESIGN: A Markov decision model simulating follow-up over a 36-month peri ...
Full textLink to itemCite
Journal articleJ Am Geriatr Soc · September 2011
OBJECTIVES: To evaluate the cost-effectiveness of oral bisphosphonate therapy for osteoporosis in women at different ages and life expectancies. DESIGN: A Markov model was used to analyze oral bisphosphonate treatment for 5 years compared to no interventio ...
Full textLink to itemCite
Journal articleGerontologist · August 2011
PURPOSE: To explore the nature of men's experiences of osteoporosis by developing an understanding of men's explanatory models. DESIGN AND METHODS: This descriptive study invited community-residing male osteoporosis patients aged 50+ to participate in inte ...
Full textLink to itemCite
Journal articleClin Transplant · 2011
PURPOSE: Advanced lung disease increases the risk for diminished bone mineral density (BMD). The prevalence and severity of osteoporosis in lung transplant candidates is unclear. METHODS: We retrospectively evaluated BMD of subjects screened for lung trans ...
Full textLink to itemCite
Journal articleCurr Opin Endocrinol Diabetes Obes · December 2010
PURPOSE OF REVIEW: The study of phosphorus physiology and investigations into clinical disorders of phosphorus metabolism has blossomed over the past decade. Recent work has confirmed and further extended our knowledge of basic mechanisms of phosphorus met ...
Full textLink to itemCite
Journal articleMol Genet Metab · April 2010
Glycogen storage disease type I (GSD I) is caused by inherited defects of the glucose 6-phosphatase complex, resulting in fasting hypoglycemia, lactic acidosis, hyperuricemia and hyperlipidemia. Sixteen out of 26 (61.5%) GSD I patients in our study had sub ...
Full textLink to itemCite
Journal articleFertil Steril · September 2009
OBJECTIVE: To demonstrate the efficacy and safety of follitropin alfa administered with hCG on spermatogenesis in adult male hypogonadotropic hypogonadism (HH) patients. DESIGN: Phase III, multicenter, open-label, noncomparative. SETTING: Seven US medical ...
Full textLink to itemCite
Journal articleSkeletal Radiol · November 2007
We describe a distinctly unusual MR appearance of the cancellous bone never before described in a patient with biopsy-proven fibrogenesis imperfecta ossium. ...
Full textLink to itemCite
Journal articlePediatr Radiol · May 2007
Featured Publication
BACKGROUND: Pompe disease (glycogen storage disease type II or acid maltase deficiency) is an autosomal recessive disorder caused by deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA). Classic infantile-onset disease, characterized by cardiome ...
Full textLink to itemCite
Journal articleAdvanced Studies in Medicine · April 1, 2006
PURPOSE: Fragility fractures are increasingly recognized as an important cause of morbidity and mortality in men. This review focuses on the potential causes, means of diagnosis, and available treatment for male osteoporosis. EPIDEMIOLOGY: More than 2 mill ...
Cite
Journal articleJ Clin Endocrinol Metab · August 2004
A new mucoadhesive testosterone buccal system (Striant), 30 mg testosterone (T), was applied twice daily in 82 hypogonadal men for 3 months. Serum T, free T, and 5alpha-dihydrotestosterone were measured during this period. T pharmacokinetics were determine ...
Full textLink to itemCite
Journal articleJ Clin Endocrinol Metab · May 2004
Transdermal testosterone (T) delivery represents an effective alternative to injectable androgens. We studied 163 hypogonadal men who applied 5, 7.5, or 10 g AndroGel (T gel) 1% CIII per day for up to 42 months. Efficacy data were presented in 123 subjects ...
Full textLink to itemCite
Journal articleJ Bone Miner Res · July 2003
Featured Publication
UNLABELLED: We investigated if the circulating levels of the phosphaturic factor FGF23 are elevated in subjects with XLH. Although we failed to find a statistically significant increase, FGF23 levels were significantly correlated with the degree of hypopho ...
Full textLink to itemCite
Journal articleMetabolism · August 2001
Featured Publication
Idiopathic osteoporosis in men is an increasingly recognized disorder accounting for up to 200,000 hip fractures worldwide each year. Although there is no widely accepted or proven efficacious treatment for men with idiopathic osteoporosis, we attempted to ...
Full textLink to itemCite
Journal articleClin Endocrinol (Oxf) · June 2001
OBJECTIVE: Androgen replacement has been reported to increase bone mineral density (BMD) in hypogonadal men. We studied the effects of 6 months of treatment with a new transdermal testosterone (T) gel preparation on bone turnover markers and BMD. DESIGN: T ...
Full textLink to itemCite
Journal articleJ Clin Endocrinol Metab · December 2000
Transdermal delivery of testosterone (T) represents an effective alternative to injectable androgens. Transdermal T patches normalize serum T levels and reverse the symptoms of androgen deficiency in hypogonadal men. However, the acceptance of the closed s ...
Full textLink to itemCite
Journal articleJ Clin Endocrinol Metab · August 2000
Testosterone (T) therapy for hypogonadal men should correct the clinical abnormalities of T deficiency, including improvement of sexual function, increase in muscle mass and strength, and decrease in fat mass, with minimal adverse effects. We have shown th ...
Full textLink to itemCite
Journal articleEndocrinol Metab Clin North Am · June 1998
This article discusses the important secondary causes of osteoporosis that contribute significantly to bone loss and that seem to increase fracture risk, including hypogonadism, endogenous and exogenous thyroxine excess, hyperparathyroidism, malignancies, ...
Full textLink to itemCite
Journal articleRecent Prog Horm Res · 1997
The nuclear hormone receptor family comprises a group of structurally related transcriptional regulators that mediate the actions of diverse ligands, including steroid hormones, thyroid hormone, vitamin D, and retinoids. The nuclear receptor family also co ...
Link to itemCite
Journal articleMol Endocrinol · October 1996
Mutations of the orphan nuclear receptors, steroidogenic factor 1 (SF-1) and DAX-1, cause complex endocrine phenotypes that include impaired adrenal development and hypogonadotrophic hypogonadism. These similar phenotypes suggest that SF-1 and DAX-1 act in ...
Full textLink to itemCite