Search Results

You are looking at 61 - 70 of 184 items for

  • Abstract: Calcium x
  • Abstract: Hyperparathyroidism x
  • Abstract: Hypoparathyroidism x
  • Abstract: Menopause x
  • Abstract: Osteo* x
  • Abstract: Vitamin D x
Clear All Modify Search
Zhen-yu Song Department of Urology, Jinshan Hospital of Fudan University, Shanghai, China

Search for other papers by Zhen-yu Song in
Google Scholar
PubMed
Close
,
Qiuming Yao Department of Endocrinology, Jinshan Hospital of Fudan University, Shanghai, China

Search for other papers by Qiuming Yao in
Google Scholar
PubMed
Close
,
Zhiyuan Zhuo Department of Urology, Jinshan Hospital of Fudan University, Shanghai, China

Search for other papers by Zhiyuan Zhuo in
Google Scholar
PubMed
Close
,
Zhe Ma Department of Urology, Jinshan Hospital of Fudan University, Shanghai, China

Search for other papers by Zhe Ma in
Google Scholar
PubMed
Close
, and
Gang Chen Department of Urology, Jinshan Hospital of Fudan University, Shanghai, China

Search for other papers by Gang Chen in
Google Scholar
PubMed
Close

Previous studies investigating the association of circulating 25-hydroxyvitamin D level with prognosis of prostate cancer yielded controversial results. We conducted a dose–response meta-analysis to elucidate the relationship. PubMed and EMBASE were searched for eligible studies up to July 15, 2018. We performed a dose–response meta-analysis using random-effect model to calculate the summary hazard ratio (HR) and 95% CI of mortality in patients with prostate cancer. Seven eligible cohort studies with 7808 participants were included. The results indicated that higher vitamin D level could reduce the risk of death among prostate cancer patients. The summary HR of prostate cancer-specific mortality correlated with an increment of every 20 nmol/L in circulating vitamin D level was 0.91, with 95% CI 0.87–0.97, P = 0.002. The HR for all-cause mortality with the increase of 20 nmol/L vitamin D was 0.91 (95% CI: 0.84–0.98, P = 0.01). Sensitivity analysis suggested the pooled HRs were stable and not obviously changed by any single study. No evidence of publications bias was observed. This meta-analysis suggested that higher 25-hydroxyvitamin D level was associated with a reduction of mortality in prostate cancer patients and vitamin D is an important protective factor in the progression and prognosis of prostate cancer.

Open access
Maria Luisa Brandi Department of Experimental and Clinical Biomedical Sciences, University of Florence, Florence, Italy
Fondazione Italiana Ricerca sulle Malattie dell’Osso (FIRMO Onlus), Florence, Italy

Search for other papers by Maria Luisa Brandi in
Google Scholar
PubMed
Close
,
Stefania Bandinelli Geriatric Unit, Azienda Sanitaria Toscana Centro, Florence, Italy

Search for other papers by Stefania Bandinelli in
Google Scholar
PubMed
Close
,
Teresa Iantomasi Department of Experimental and Clinical Biomedical Sciences, University of Florence, Florence, Italy

Search for other papers by Teresa Iantomasi in
Google Scholar
PubMed
Close
,
Francesca Giusti Department of Experimental and Clinical Biomedical Sciences, University of Florence, Florence, Italy

Search for other papers by Francesca Giusti in
Google Scholar
PubMed
Close
,
Eleonora Talluri Department of Experimental and Clinical Biomedical Sciences, University of Florence, Florence, Italy

Search for other papers by Eleonora Talluri in
Google Scholar
PubMed
Close
,
Giovanna Sini Department of Experimental and Clinical Biomedical Sciences, University of Florence, Florence, Italy

Search for other papers by Giovanna Sini in
Google Scholar
PubMed
Close
,
Fabrizio Nannipieri Clinical Research, Abiogen Pharma, Pisa, Italy

Search for other papers by Fabrizio Nannipieri in
Google Scholar
PubMed
Close
,
Santina Battaglia Clinical Research, Abiogen Pharma, Pisa, Italy

Search for other papers by Santina Battaglia in
Google Scholar
PubMed
Close
,
Riccardo Giusti Clinical Research, Abiogen Pharma, Pisa, Italy

Search for other papers by Riccardo Giusti in
Google Scholar
PubMed
Close
,
Colin Gerard Egan CE Medical Writing SRLS, Pisa, Italy

Search for other papers by Colin Gerard Egan in
Google Scholar
PubMed
Close
, and
Luigi Ferrucci Longitudinal Study Section, Translation Gerontology Branch, National Institute on Aging, Baltimore, Maryland, USA

Search for other papers by Luigi Ferrucci in
Google Scholar
PubMed
Close

Objective

This study aimed to evaluate the association between the endocrine-disrupting chemical, bisphenol A (BPA) on circulating levels of 25-hydroxy vitamin D (25(OD)D) and other vitamin D metabolites in an elderly population in Italy.

Methods

This was a retrospective analysis of the InCHIANTI Biobank in Italy. The association between vitamin D metabolites namely 1,25(OH)D, 25(OH)D, parathyroid hormone (PTH) and BPA levels were evaluated. Multiple regression models were used to examine the association between predictor variables with 1,25(OH)D or 25(OH)D levels.

Results

Samples from 299 individuals aged 72.8 ± 15.7 years were examined. Mean levels of BPA, 1,25(OH)D and 25(OH)D were 351.2 ± 511.6 ng/dL, 43.7 ± 16.9 pg/mL and 20.2 ± 12.1 ng/mL, respectively. One hundred eighty individuals (60.2%) were deficient (<20 ng/mL) in 25(OH)D and this population also presented higher BPA levels (527.9 ± 1289.5 ng/dL vs 86.9 ± 116.8 ng/dL, P  < 0.0001). Univariate analysis revealed that BPA levels were negatively correlated with both 1,25(OH)D (r= −0.67, P  < 0.0001) and 25(OH)D (r= −0.69, P  < 0.0001). Multivariate regression revealed that PTH (β: −0.23, 95% CI: −0.34, −0.13, P  < 0.0001) and BPA (β: −0.25, 95% CI: −0.3, −0.19, P  < 0.0001) remained significantly associated with 25(OH)D levels while BPA was also associated with 1,25(OH)D levels (β: −0.19, 95% CI: −0.22, −0.15, P  < 0.0001). Receiver operating characteristic curve analysis showed that a BPA concentration of >113 ng/dL was the best cut-off to predict individuals deficient in 25(OH)D (area under the curve: 0.87, 95% CI: 0.82–0.90, P  < 0.0001).

Conclusion

The strong negative association between BPA and vitamin D in this elderly population warrants further investigation, particularly since this population is already at greatest risk of hypovitaminosis and fracture.

Open access
Eliana Piantanida Department of Medicine and Surgery, University of Insubria, Varese, Italy

Search for other papers by Eliana Piantanida in
Google Scholar
PubMed
Close
,
Daniela Gallo Department of Medicine and Surgery, University of Insubria, Varese, Italy

Search for other papers by Daniela Gallo in
Google Scholar
PubMed
Close
,
Giovanni Veronesi Department of Medicine and Surgery, University of Insubria, Varese, Italy
Research Center in Epidemiology and Preventive Medicine (EPIMED), University of Insubria, Varese, Italy

Search for other papers by Giovanni Veronesi in
Google Scholar
PubMed
Close
,
Eugenia Dozio Department of Medicine and Surgery, University of Insubria, Varese, Italy

Search for other papers by Eugenia Dozio in
Google Scholar
PubMed
Close
,
Eugenia Trotti Department of Medicine and Surgery, University of Insubria, Varese, Italy

Search for other papers by Eugenia Trotti in
Google Scholar
PubMed
Close
,
Adriana Lai Department of Medicine and Surgery, University of Insubria, Varese, Italy

Search for other papers by Adriana Lai in
Google Scholar
PubMed
Close
,
Silvia Ippolito Department of Medicine and Surgery, University of Insubria, Varese, Italy

Search for other papers by Silvia Ippolito in
Google Scholar
PubMed
Close
,
Jessica Sabatino Department of Medicine and Surgery, University of Insubria, Varese, Italy

Search for other papers by Jessica Sabatino in
Google Scholar
PubMed
Close
,
Maria Laura Tanda Department of Medicine and Surgery, University of Insubria, Varese, Italy

Search for other papers by Maria Laura Tanda in
Google Scholar
PubMed
Close
,
Antonio Toniolo Department of Biotechnology and Life Science, University of Insubria, Varese, Italy

Search for other papers by Antonio Toniolo in
Google Scholar
PubMed
Close
,
Marco Ferrario Department of Medicine and Surgery, University of Insubria, Varese, Italy
Research Center in Epidemiology and Preventive Medicine (EPIMED), University of Insubria, Varese, Italy

Search for other papers by Marco Ferrario in
Google Scholar
PubMed
Close
, and
Luigi Bartalena Department of Medicine and Surgery, University of Insubria, Varese, Italy

Search for other papers by Luigi Bartalena in
Google Scholar
PubMed
Close

Objective

The aim of this observational study was to clarify the link between vitamin D status and metabolic syndrome (MetS) in people with visceral obesity.

Design and methods

One hundred ninety-six consecutive patients (152 women; mean age 51 ± 13 years) with visceral obesity (mean body weight 103 ± 20 kg, mean waist circumference (WC) 119 ± 13 cm) were enrolled at the Obesity Outpatient Clinic of the University of Insubria in Varese. Anthropometric measurements were recorded. Laboratory tests, including vitamin D (25(OH)D)), fasting blood glucose (FBG), lipid profile, liver and kidney function tests were assessed. Vitamin D status was defined according to the European Society of Endocrinology guidelines, MetS to the 2009 harmonized definition.

Results

An inverse association emerged among 25(OH)D, body mass index (BMI) (P = 0.001) and WC (all P = 0.003). Serum 25(OH)D levels were inversely related to FBG and systolic blood pressure (SBP) (respectively, P = 0.01 and 0.02). Median serum 25(OH)D levels were 13.3 ng/mL (CI 95% 12; 15) in MetS and 16 ng/mL (CI 95% 14; 18) (P = 0.01) in non-MetS patients. Among patients with MetS, lower 25(OH)D concentrations were related to higher risk of hypertension (HT) (odds ratio (OR) 1.7, CI 95%, 0.7;4) and hyperglycemia (IFG)/type 2 diabetes (OR 5.5, CI 95% 2; 14).

Conclusion

Vitamin D status and MetS are inversely correlated in visceral obesity, particularly with regard to glucose homeostasis and BP. More extensive studies are required to investigate the potential for causality.

Open access
Silvia Ciancia Department of Internal Medicine and Pediatrics, Ghent University, Ghent, Belgium

Search for other papers by Silvia Ciancia in
Google Scholar
PubMed
Close
,
Vanessa Dubois Basic and Translational Endocrinology (BaTE), Department of Basic and Applied Medical Sciences, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium

Search for other papers by Vanessa Dubois in
Google Scholar
PubMed
Close
, and
Martine Cools Department of Internal Medicine and Pediatrics, Ghent University, Pediatric Endocrinology Service, Ghent University Hospital, Ghent, Belgium

Search for other papers by Martine Cools in
Google Scholar
PubMed
Close

Both in the United States and Europe, the number of minors who present at transgender healthcare services before the onset of puberty is rapidly expanding. Many of those who will have persistent gender dysphoria at the onset of puberty will pursue long-term puberty suppression before reaching the appropriate age to start using gender-affirming hormones. Exposure to pubertal sex steroids is thus significantly deferred in these individuals. Puberty is a critical period for bone development: increasing concentrations of estrogens and androgens (directly or after aromatization to estrogens) promote progressive bone growth and mineralization and induce sexually dimorphic skeletal changes. As a consequence, safety concerns regarding bone development and increased future fracture risk in transgender youth have been raised. We here review published data on bone development in transgender adolescents, focusing in particular on differences in age and pubertal stage at the start of puberty suppression, chosen strategy to block puberty progression, duration of puberty suppression, and the timing of re-evaluation after estradiol or testosterone administration. Results consistently indicate a negative impact of long-term puberty suppression on bone mineral density, especially at the lumbar spine, which is only partially restored after sex steroid administration. Trans girls are more vulnerable than trans boys for compromised bone health. Behavioral health measures that can promote bone mineralization, such as weight-bearing exercise and calcium and vitamin D supplementation, are strongly recommended in transgender youth, during the phase of puberty suppression and thereafter.

Open access
Rasmus Reinke Department of Otorhinolaryngology, Head and Neck Surgery, Aarhus University Hospital, Aarhus, Denmark

Search for other papers by Rasmus Reinke in
Google Scholar
PubMed
Close
,
Stefano Christian Londero Department of Otorhinolaryngology, Head and Neck Surgery, Aarhus University Hospital, Aarhus, Denmark

Search for other papers by Stefano Christian Londero in
Google Scholar
PubMed
Close
,
Martin Almquist Department of Surgery, Lund University Hospital, Lund, Sweden

Search for other papers by Martin Almquist in
Google Scholar
PubMed
Close
,
Lars Rejnmark Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus, Denmark

Search for other papers by Lars Rejnmark in
Google Scholar
PubMed
Close
, and
Lars Rolighed Department of Otorhinolaryngology, Head and Neck Surgery, Aarhus University Hospital, Aarhus, Denmark

Search for other papers by Lars Rolighed in
Google Scholar
PubMed
Close

Objective

Total thyroidectomy is associated with a high risk of postoperative hypoparathyroidism, mainly due to the unintended surgical damage to the parathyroid glands or their blood supply. It is possible that surgeons who also perform parathyroid surgery see lower rates of postoperative hypoparathyroidism. In a single institution, we investigated the effects of restricting total thyroidectomy operations for Graves’ disease to two surgeons who performed both thyroid and parathyroid surgeries. We aimed to evaluate the rates of postoperative hypoparathyroidism in a 10-year period with primary attention toward patients with Graves’ disease.

Design

Retrospective cohort study from a single institution.

Methods

We defined the rate of permanent hypoparathyroidism after total thyroidectomy as the need for active vitamin D 6 months postoperatively. Between 2012 and 2016, seven surgeons performed all thyroidectomies. From January 2017, only surgeons also performing parathyroid surgery carried out thyroidectomies for Graves’ disease.

Results

We performed total thyroidectomy in 543 patients. The rate of permanent hypoparathyroidism decreased from 28% in 2012–2014 to 6% in 2020–2021. For patients with Graves’ disease, the rate of permanent hypoparathyroidism decreased from 36% (13 out of 36) in 2015–2016 to 2% (1 out of 56) in 2020–2021. In cancer patients, the rate of permanent hypoparathyroidism decreased from 30% (14 out of 46) in 2012–2014 to 10% (10 out of 51) in 2020–2021.

Conclusion

Restricting thyroidectomy to surgeons who also performed parathyroid operations reduced postoperative hypoparathyroidism markedly. Accordingly, we recommend centralisation of the most difficult thyroid operations to centres and surgeons with extensive experience in parathyroid surgery.

Significance statement

Thyroid surgery is performed by many different surgeons with marked differences in outcome. Indeed, the risk of postoperative permanent hypoparathyroidism may be very high in low-volume centres. This serious condition affects the quality of life and increases long-term morbidity and the patients develop a life-long dependency of medical treatments. We encountered a high risk of hypoparathyroidism after the operation for Graves’ disease and restricted the number of surgeons to two for these operations. Further, these surgeons were experienced in both thyroid and parathyroid surgeries. We show a dramatic reduction in postoperative hypoparathyroidism after this change. Accordingly, we recommend centralisation of total thyroidectomy to surgeons with experience in both thyroid and parathyroid procedures.

Open access
Marc Blondon Division of Angiology and Hemostasis, Geneva University Hospitals and Faculty of Medicine, University of Geneva, Geneva, Switzerland

Search for other papers by Marc Blondon in
Google Scholar
PubMed
Close
,
Emmanuel Biver Division of Bone Diseases, Geneva University Hospitals and Faculty of Medicine, University of Geneva, Geneva, Switzerland

Search for other papers by Emmanuel Biver in
Google Scholar
PubMed
Close
,
Olivia Braillard Division of Primary Care Medicine, Geneva University Hospitals and Faculty of Medicine, University of Geneva, Geneva, Switzerland

Search for other papers by Olivia Braillard in
Google Scholar
PubMed
Close
,
Marc Righini Division of Angiology and Hemostasis, Geneva University Hospitals and Faculty of Medicine, University of Geneva, Geneva, Switzerland

Search for other papers by Marc Righini in
Google Scholar
PubMed
Close
,
Pierre Fontana Division of Angiology and Hemostasis, Geneva University Hospitals and Faculty of Medicine, University of Geneva, Geneva, Switzerland

Search for other papers by Pierre Fontana in
Google Scholar
PubMed
Close
, and
Alessandro Casini Division of Angiology and Hemostasis, Geneva University Hospitals and Faculty of Medicine, University of Geneva, Geneva, Switzerland

Search for other papers by Alessandro Casini in
Google Scholar
PubMed
Close

Objective

Vitamin D deficiency is associated with increased risks of arterial and venous cardiovascular events. Hypothetically, supplementation with vitamin D may lead to a less prothrombotic phenotype, as measured by global coagulation assays and fibrin clot structure.

Methods

In this prospective cohort study, we enrolled adult outpatients attending the Primary Care Division of the Geneva University Hospitals with a severe vitamin D deficiency (25-hydroxyvitamin-D3 (25-OHD) <25 nmol/L), excluding obese patients or with a recent acute medical event. We evaluated changes in coagulation times, thrombin generation assay, clot formation and clot lysis time, 25-OHD and parathormone before and 1–3 months after cholecalciferol oral supplementation with one-time 300,000 IU then 800 IU daily. Paired t-tests with a two-sided alpha of 0.05 compared absolute mean differences.

Results

The 48 participants had a mean age of 43.8 ± 13.8 years. After supplementation, 25-OHD levels increased from 17.9 ± 4.6 nmol/L to 62.5 ± 20.7 nmol/L 6.4 ± 3.0 weeks after inclusion. Endogenous thrombin potential and thrombin generation peak values both decreased significantly (−95.4 nM × min (95%CI −127.9 to −62.8), P < 0.001; −15.1 nM (−23.3 to −6.8), P < 0.001). The maximum absorbance by turbidimetry decreased significantly (P = 0.001) after supplementation. There was no change in clot lysis time, coagulation times or plasminogen activator inhibitor-1 and homocysteine levels.

Conclusions

In severe vitamin D deficiency, a high-dose cholecalciferol supplementation was associated with a reduction in thrombin generation and an average decreased number of fibrin protofibrils per fibers and fibrin fiber size measured by turbidimetry. This suggests that severe vitamin D deficiency may be associated with a potentially reversible prothrombotic profile.

Open access
R Perchard Division of Developmental Biology & Medicine, School of Medical Sciences, Faculty of Biology, Medicine & Health, University of Manchester, Manchester, UK

Search for other papers by R Perchard in
Google Scholar
PubMed
Close
,
L Magee Division of Developmental Biology & Medicine, School of Medical Sciences, Faculty of Biology, Medicine & Health, University of Manchester, Manchester, UK

Search for other papers by L Magee in
Google Scholar
PubMed
Close
,
A Whatmore Division of Developmental Biology & Medicine, School of Medical Sciences, Faculty of Biology, Medicine & Health, University of Manchester, Manchester, UK

Search for other papers by A Whatmore in
Google Scholar
PubMed
Close
,
F Ivison Department of Biochemistry, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK

Search for other papers by F Ivison in
Google Scholar
PubMed
Close
,
P Murray Division of Developmental Biology & Medicine, School of Medical Sciences, Faculty of Biology, Medicine & Health, University of Manchester, Manchester, UK
Department of Paediatric Endocrinology, Royal Manchester Children’s Hospital, Central Manchester Foundation Hospitals NHS Trust, Manchester, UK

Search for other papers by P Murray in
Google Scholar
PubMed
Close
,
A Stevens Division of Developmental Biology & Medicine, School of Medical Sciences, Faculty of Biology, Medicine & Health, University of Manchester, Manchester, UK

Search for other papers by A Stevens in
Google Scholar
PubMed
Close
,
M Z Mughal Department of Paediatric Endocrinology, Royal Manchester Children’s Hospital, Central Manchester Foundation Hospitals NHS Trust, Manchester, UK

Search for other papers by M Z Mughal in
Google Scholar
PubMed
Close
,
S Ehtisham Department of Paediatric Endocrinology, Royal Manchester Children’s Hospital, Central Manchester Foundation Hospitals NHS Trust, Manchester, UK

Search for other papers by S Ehtisham in
Google Scholar
PubMed
Close
,
J Campbell Department of Paediatric Endocrinology, Royal Manchester Children’s Hospital, Central Manchester Foundation Hospitals NHS Trust, Manchester, UK

Search for other papers by J Campbell in
Google Scholar
PubMed
Close
,
S Ainsworth Department of Paediatric Endocrinology, Royal Manchester Children’s Hospital, Central Manchester Foundation Hospitals NHS Trust, Manchester, UK

Search for other papers by S Ainsworth in
Google Scholar
PubMed
Close
,
M Marshall Department of Biochemistry, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK

Search for other papers by M Marshall in
Google Scholar
PubMed
Close
,
M Bone Department of General Paediatrics, Royal Manchester Children’s Hospital, Central Manchester Foundation Hospitals NHS Trust, Manchester, UK

Search for other papers by M Bone in
Google Scholar
PubMed
Close
,
I Doughty Department of General Paediatrics, Royal Manchester Children’s Hospital, Central Manchester Foundation Hospitals NHS Trust, Manchester, UK

Search for other papers by I Doughty in
Google Scholar
PubMed
Close
, and
P E Clayton Division of Developmental Biology & Medicine, School of Medical Sciences, Faculty of Biology, Medicine & Health, University of Manchester, Manchester, UK
Department of Paediatric Endocrinology, Royal Manchester Children’s Hospital, Central Manchester Foundation Hospitals NHS Trust, Manchester, UK

Search for other papers by P E Clayton in
Google Scholar
PubMed
Close

Background

Higher 25(OH)D3 levels are associated with lower HbA1c, but there are limited UK interventional trials assessing the effect of cholecalciferol on HbA1c.

Aims

(1) To assess the baseline 25(OH)D3 status in a Manchester cohort of children with type 1 diabetes (T1D). (2) To determine the effect of cholecalciferol administration on HbA1c.

Methods

Children with T1D attending routine clinic appointments over three months in late winter/early spring had blood samples taken with consent. Participants with a 25(OH)D3 level <50 nmol/L were treated with a one-off cholecalciferol dose of 100,000 (2–10 years) or 160,000 (>10 years) units. HbA1c levels before and after treatment were recorded.

Results

Vitamin D levels were obtained from 51 children. 35 were Caucasian, 11 South Asian and 5 from other ethnic groups. 42 were vitamin D deficient, but 2 were excluded from the analysis. All South Asian children were vitamin D deficient, with mean 25(OH)D3 of 28 nmol/L. In Caucasians, there was a negative relationship between baseline 25(OH)D3 level and HbA1c (r = −0.484, P < 0.01). In treated participants, there was no significant difference in mean HbA1c at 3 months (t = 1.010, P = 0.328) or at 1 year (t = −1.173, P = 0.248) before and after treatment. One-way ANCOVA, controlling for age, gender, ethnicity, BMI and diabetes duration showed no difference in Δ HbA1c level.

Conclusion

We report important findings at baseline, but in children treated with a stat dose of cholecalciferol, there was no effect on HbA1c. Further studies with larger sample sizes and using maintenance therapy are required.

Open access
Sarah Bakhamis Department of Pediatrics, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia

Search for other papers by Sarah Bakhamis in
Google Scholar
PubMed
Close
,
Faiqa Imtiaz Centre for Genomic Medicine, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia

Search for other papers by Faiqa Imtiaz in
Google Scholar
PubMed
Close
,
Khushnooda Ramzan Centre for Genomic Medicine, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia

Search for other papers by Khushnooda Ramzan in
Google Scholar
PubMed
Close
,
Edward De Vol Department of Biostatistics, Epidemiology & Scientific Computing, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia

Search for other papers by Edward De Vol in
Google Scholar
PubMed
Close
,
Osamah Al-Sagheir Department of Medicine, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia

Search for other papers by Osamah Al-Sagheir in
Google Scholar
PubMed
Close
,
Abdulrahman Al-Rajhi Department of Orthopedics, King Saud University Medical City, Riyadh, Saudi Arabia

Search for other papers by Abdulrahman Al-Rajhi in
Google Scholar
PubMed
Close
,
Abdullah Alashwal Department of Pediatrics, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia

Search for other papers by Abdullah Alashwal in
Google Scholar
PubMed
Close
,
Bassam Bin Abbas Department of Pediatrics, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia

Search for other papers by Bassam Bin Abbas in
Google Scholar
PubMed
Close
,
Nadia Sakati Department of Pediatrics, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia

Search for other papers by Nadia Sakati in
Google Scholar
PubMed
Close
, and
Afaf Al-Sagheir Department of Pediatrics, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia

Search for other papers by Afaf Al-Sagheir in
Google Scholar
PubMed
Close

Vitamin D deficiency remains a major cause of rickets worldwide. Nutritional factors are the major cause and less commonly, inheritance causes. Recently, CYP2R1 has been reported as a major factor for 25-hydroxylation contributing to the inherited forms of vitamin D deficiency. We conducted a prospective cohort study at King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia, to review cases with 25-hydroxylase deficiency and describe their clinical, biochemical, and molecular genetic features. We analyzed 27 patients from nine different families who presented with low 25-OH vitamin D and not responding to usual treatment. Genetic testing identified two mutations: c.367+1G>A (12/27 patients) and c.768dupT (15/27 patients), where 18 patients were homozygous for their identified mutation and 9 patients were heterozygous. Both groups had similar clinical manifestations ranging in severity, but none of the patients with the heterozygous mutation had hypocalcemic manifestations. Thirteen out of 18 homozygous patients and all the heterozygous patients responded to high doses of vitamin D treatment, but they regressed after decreasing the dose, requiring lifelong therapy. Five out of 18 homozygous patients required calcitriol to improve their biochemical data, whereas none of the heterozygous patients and patients who carried the c.367+1G>A mutation required calcitriol treatment. To date, this is the largest cohort series analyzing CYP2R1-related 25-hydroxylase deficiency worldwide, supporting its major role in 25-hydroxylation of vitamin D. It is suggested that a higher percentage of CYP2R1 mutations might be found in the Saudi population. We believe that our study will help in the diagnosis, treatment, and prevention of similar cases in the future.

Open access
Giuseppe Grande Unit of Andrology and Reproductive Medicine, University Hospital of Padova, Padova, Italy

Search for other papers by Giuseppe Grande in
Google Scholar
PubMed
Close
,
Andrea Graziani Department of Medicine, University of Padova, Padova, Italy

Search for other papers by Andrea Graziani in
Google Scholar
PubMed
Close
,
Antonella Di Mambro Unit of Andrology and Reproductive Medicine, University Hospital of Padova, Padova, Italy

Search for other papers by Antonella Di Mambro in
Google Scholar
PubMed
Close
,
Riccardo Selice Unit of Andrology and Reproductive Medicine, University Hospital of Padova, Padova, Italy

Search for other papers by Riccardo Selice in
Google Scholar
PubMed
Close
, and
Alberto Ferlin Unit of Andrology and Reproductive Medicine, University Hospital of Padova, Padova, Italy
Department of Medicine, University of Padova, Padova, Italy

Search for other papers by Alberto Ferlin in
Google Scholar
PubMed
Close

Low bone mass is common in men with Klinefelter syndrome (KS), with a prevalence of 6–15% of osteoporosis and of 25–48% of osteopenia. Reduced bone mass has been described since adolescence and it might be related to both reduced bone formation and higher bone resorption. Although reduced testosterone levels are clearly involved in the pathogenesis, this relation is not always evident. Importantly, fracture risk is increased independently from bone mineral density (BMD) and testosterone levels. Here we discuss the pathogenesis of osteoporosis in patients with KS, with a particular focus on the role of testosterone and testis function. In fact, other hormonal mechanisms, such as global Leydig cell dysfunction, causing reduced insulin-like factor 3 and 25-OH vitamin D levels, and high follicle-stimulating hormone and estradiol levels, might be involved. Furthermore, genetic aspects related to the supernumerary X chromosome might be involved, as well as androgen receptor expression and function. Notably, body composition, skeletal mass and strength, and age at diagnosis are other important aspects. Although dual-energy x-ray absorptiometry is recommended in the clinical workflow for patients with KS to measure BMD, recent evidence suggests that alterations in the microarchitecture of the bones and vertebral fractures might be present even in subjects with normal BMD. Therefore, analysis of trabecular bone score, high-resolution peripheral quantitative computed tomography and vertebral morphometry seem promising tools to better estimate the fracture risk of patients with KS. This review also summarizes the evidence on the best available treatments for osteoporosis in men with KS, with or without hypogonadism.

Open access
Kristin Godang Section of Specialized Endocrinology, Oslo University Hospital, Oslo, Norway

Search for other papers by Kristin Godang in
Google Scholar
PubMed
Close
,
Karolina Lundstam Department of Radiology, Institute of Clinical Sciences, Sahlgrenska Academy at the University of Gothenburg, Sahlgrenska University Hospital, Gothenburg, Sweden

Search for other papers by Karolina Lundstam in
Google Scholar
PubMed
Close
,
Charlotte Mollerup Clinic of Breast and Endocrine Surgery, Center HOC, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark

Search for other papers by Charlotte Mollerup in
Google Scholar
PubMed
Close
,
Stine Lyngvi Fougner Department of Endocrinology, St. Olavs Hospital, Trondheim, Norway

Search for other papers by Stine Lyngvi Fougner in
Google Scholar
PubMed
Close
,
Ylva Pernow Departments of Molecular Medicine, Surgery and Endocrinology, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden

Search for other papers by Ylva Pernow in
Google Scholar
PubMed
Close
,
Jörgen Nordenström Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden

Search for other papers by Jörgen Nordenström in
Google Scholar
PubMed
Close
,
Thord Rosén Department of Medicine, Sahlgrenska University Hospital, Gothenburg, Sweden

Search for other papers by Thord Rosén in
Google Scholar
PubMed
Close
,
Svante Jansson Department of Endocrine Surgery, Sahlgrenska University Hospital, Gothenburg, Sweden

Search for other papers by Svante Jansson in
Google Scholar
PubMed
Close
,
Mikael Hellström Department of Radiology, Institute of Clinical Sciences, Sahlgrenska Academy at the University of Gothenburg, Sahlgrenska University Hospital, Gothenburg, Sweden

Search for other papers by Mikael Hellström in
Google Scholar
PubMed
Close
,
Jens Bollerslev Section of Specialized Endocrinology, Oslo University Hospital, Oslo, Norway
Faculty of Medicine, University of Oslo, Oslo, Norway

Search for other papers by Jens Bollerslev in
Google Scholar
PubMed
Close
,
Ansgar Heck Section of Specialized Endocrinology, Oslo University Hospital, Oslo, Norway
Faculty of Medicine, University of Oslo, Oslo, Norway

Search for other papers by Ansgar Heck in
Google Scholar
PubMed
Close
, and
the SIPH Study Group
Search for other papers by the SIPH Study Group in
Google Scholar
PubMed
Close

Context

Mild primary hyperparathyroidism has been associated with increased body fat mass and unfavorable cardiovascular risk factors.

Objective

To assess the effect of parathyroidectomy on fat mass, glucose and lipid metabolism.

Design, patients, interventions, main outcome measures

119 patients previously randomized to observation (OBS; n = 58) or parathyroidectomy (PTX; n = 61) within the Scandinavian Investigation of Primary Hyperparathyroidism (SIPH) trial, an open randomized multicenter study, were included. Main outcome measures for this study were the differences in fat mass, markers for lipid and glucose metabolism between OBS and PTX 5 years after randomization.

Results

In the OBS group, total cholesterol (Total-C) decreased from mean 5.9 (±1.1) to 5.6 (±1.0) mmol/L (P = 0.037) and LDL cholesterol (LDL-C) decreased from 3.7 (±1.0) to 3.3 (±0.9) mmol/L (P = 0.010). In the PTX group, the Total-C and LDL-C remained unchanged resulting in a significant between-group difference over time (P = 0.013 and P = 0.026, respectively). This difference was driven by patients who started with lipid-lowering medication during the study period (OBS: 5; PTX: 1). There was an increase in trunk fat mass in the OBS group, but no between-group differences over time. Mean 25(OH) vitamin D increased in the PTX group (P < 0.001), but did not change in the OBS group. No difference in parameters of glucose metabolism was detected.

Conclusion

In mild PHPT, the measured metabolic and cardiovascular risk factors were not modified by PTX. Observation seems safe and cardiovascular risk reduction should not be regarded as a separate indication for parathyroidectomy based on the results from this study.

Open access