Search Results
You are looking at 81 - 90 of 105 items for :
- Abstract: Hypoparathyroidism x
- Abstract: Menopause x
- Abstract: Vitamin D x
Search for other papers by June Young Choi in
Google Scholar
PubMed
Search for other papers by Jin Wook Yi in
Google Scholar
PubMed
Search for other papers by Jun Hyup Lee in
Google Scholar
PubMed
Search for other papers by Ra-Yeong Song in
Google Scholar
PubMed
Search for other papers by Hyeongwon Yu in
Google Scholar
PubMed
Search for other papers by Hyungju Kwon in
Google Scholar
PubMed
Search for other papers by Young Jun Chai in
Google Scholar
PubMed
Search for other papers by Su-jin Kim in
Google Scholar
PubMed
Search for other papers by Kyu Eun Lee in
Google Scholar
PubMed
The purpose of this study was to assess the relationship between vitamin D receptor gene (VDR) expression and prognostic factors in papillary thyroid cancer (PTC). mRNA sequencing and somatic mutation data from The Cancer Genome Atlas (TCGA) were analyzed. VDR mRNA expression was compared to clinicopathologic variables by linear regression. Tree-based classification was applied to find cutoff and patients were split into low and high VDR group. Logistic regression, Kaplan–Meier analysis, differentially expressed gene (DEG) test and pathway analysis were performed to assess the differences between two VDR groups. VDR mRNA expression was elevated in PTC than that in normal thyroid tissue. VDR expressions were high in classic and tall-cell variant PTC and lateral neck node metastasis was present. High VDR group was also associated with classic and tall cell subtype, AJCC stage IV and lower recurrence-free survival. DEG test reveals that 545 genes were upregulated in high VDR group. Thyroid cancer-related pathways were enriched in high VDR group in pathway analyses. VDR mRNA overexpression was correlated with worse prognostic factors such as subtypes of papillary thyroid carcinoma that are known to be worse prognosis, lateral neck node metastasis, advanced stage and recurrence-free survival.
Search for other papers by Silvia Ciancia in
Google Scholar
PubMed
Search for other papers by Vanessa Dubois in
Google Scholar
PubMed
Search for other papers by Martine Cools in
Google Scholar
PubMed
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.
Endocrinology Unit 2, University of Pisa, Pisa, Italy
Search for other papers by Federica Saponaro in
Google Scholar
PubMed
Laboratory of Clinical Pathology, University Hospital of Pisa, Pisa, Italy
Search for other papers by Alessandro Saba in
Google Scholar
PubMed
Search for other papers by Sabina Frascarelli in
Google Scholar
PubMed
Search for other papers by Concetta Prontera in
Google Scholar
PubMed
Search for other papers by Aldo Clerico in
Google Scholar
PubMed
Search for other papers by Marco Scalese in
Google Scholar
PubMed
Search for other papers by Maria Rita Sessa in
Google Scholar
PubMed
Search for other papers by Filomena Cetani in
Google Scholar
PubMed
Search for other papers by Simona Borsari in
Google Scholar
PubMed
Search for other papers by Elena Pardi in
Google Scholar
PubMed
Search for other papers by Antonella Marvelli in
Google Scholar
PubMed
Search for other papers by Claudio Marcocci in
Google Scholar
PubMed
Search for other papers by Claudio Passino in
Google Scholar
PubMed
Search for other papers by Riccardo Zucchi in
Google Scholar
PubMed
Objectives
The aims of this paper were to evaluate the levels of Vitamin D (VitD) in patients with heart failure (HF), compared to a control group, to assess the effects of VitD on HF outcome and to compare VitD measurement between LIAISON immunoassay and HPLC-MS-MS methods in this population.
Design and Methods
We collected clinical, biochemical and outcome data from 247 patients with HF and in a subgroup of 151 patients, we measured VitD both with LIAISON and HPLC-MS-MS.
Results
HF patients had statistically lower 25OHD levels (45.2 ± 23.7 nmol/L vs 58.2 ± 24.0 nmol/L, P < 0.001) and a statistically higher prevalence of VitD insufficiency (61.1% vs 39.5%, P < 0.001) and deficiency (24.7% vs 6.6%, P < 0.001), compared to healthy controls. There was a significant inverse relationship between baseline 25OHD and risk of HF-related death, with a HR of 0.59 (95% CI 0.37–0.92, P = 0.02), confirmed in a multivariate adjusted analysis. Kaplan–Meier survival analyses showed that VitD insufficiency was associated with reduced survival in HF patients (log rank P = 0.017). There was a good agreement between LIAISON and HPLC-MS-MS (Cohen’s kappa coefficient 0.70), but the prevalence of VitD insufficiency was significantly higher with the former compared to the latter method (58.3%, n = 88 vs 55.6%, n = 84, P < 0.001). LIAISON underestimated the 25OHD levels and showed a mean relative bias of −0.739% with 95% of limits of agreement (−9.00 to +7.52%), when compared to HPLC-MS-MS.
Conclusions
25OHD levels adequately measured by HPLC-MS-MS showed to be low in HF population and to be correlated with HF-related risk of death.
Search for other papers by Kristin Godang in
Google Scholar
PubMed
Search for other papers by Karolina Lundstam in
Google Scholar
PubMed
Search for other papers by Charlotte Mollerup in
Google Scholar
PubMed
Search for other papers by Stine Lyngvi Fougner in
Google Scholar
PubMed
Search for other papers by Ylva Pernow in
Google Scholar
PubMed
Search for other papers by Jörgen Nordenström in
Google Scholar
PubMed
Search for other papers by Thord Rosén in
Google Scholar
PubMed
Search for other papers by Svante Jansson in
Google Scholar
PubMed
Search for other papers by Mikael Hellström in
Google Scholar
PubMed
Faculty of Medicine, University of Oslo, Oslo, Norway
Search for other papers by Jens Bollerslev in
Google Scholar
PubMed
Faculty of Medicine, University of Oslo, Oslo, Norway
Search for other papers by Ansgar Heck in
Google Scholar
PubMed
Search for other papers by the SIPH Study Group in
Google Scholar
PubMed
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.
Search for other papers by Giuseppe Grande in
Google Scholar
PubMed
Search for other papers by Andrea Graziani in
Google Scholar
PubMed
Search for other papers by Antonella Di Mambro in
Google Scholar
PubMed
Search for other papers by Riccardo Selice in
Google Scholar
PubMed
Department of Medicine, University of Padova, Padova, Italy
Search for other papers by Alberto Ferlin in
Google Scholar
PubMed
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.
K.G. Jebsen Center for Autoimmune Disorders, University of Bergen, Bergen, Norway
Department of Medicine, Haukeland University Hospital, Bergen, Norway
Search for other papers by Elinor Chelsom Vogt in
Google Scholar
PubMed
Department of Gynecology and Obstetrics, Haukeland University Hospital, Bergen, Norway
Search for other papers by Francisco Gómez Real in
Google Scholar
PubMed
K.G. Jebsen Center for Autoimmune Disorders, University of Bergen, Bergen, Norway
Department of Medicine, Haukeland University Hospital, Bergen, Norway
Search for other papers by Eystein Sverre Husebye in
Google Scholar
PubMed
Department of Endocrinology, Metabolism and Diabetes, Karolinska University Hospital, Stockholm, Sweden
Search for other papers by Sigridur Björnsdottir in
Google Scholar
PubMed
Department of Sleep, Landspitali University Hospital Reykjavík, Reykjavik, Iceland
Search for other papers by Bryndis Benediktsdottir in
Google Scholar
PubMed
Search for other papers by Randi Jacobsen Bertelsen in
Google Scholar
PubMed
Search for other papers by Pascal Demoly in
Google Scholar
PubMed
Search for other papers by Karl Anders Franklin in
Google Scholar
PubMed
Search for other papers by Leire Sainz de Aja Gallastegui in
Google Scholar
PubMed
Search for other papers by Francisco Javier Callejas González in
Google Scholar
PubMed
Allergy and Lung Health Unit, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, Victoria, Australia
Search for other papers by Joachim Heinrich in
Google Scholar
PubMed
Search for other papers by Mathias Holm in
Google Scholar
PubMed
Search for other papers by Nils Oscar Jogi in
Google Scholar
PubMed
Search for other papers by Benedicte Leynaert in
Google Scholar
PubMed
Search for other papers by Eva Lindberg in
Google Scholar
PubMed
Search for other papers by Andrei Malinovschi in
Google Scholar
PubMed
Albacete Faculty of Medicine, Castilla-La Mancha University, Albacete, Spain
Search for other papers by Jesús Martínez-Moratalla in
Google Scholar
PubMed
Search for other papers by Raúl Godoy Mayoral in
Google Scholar
PubMed
Search for other papers by Anna Oudin in
Google Scholar
PubMed
Search for other papers by Antonio Pereira-Vega in
Google Scholar
PubMed
Search for other papers by Chantal Raherison Semjen in
Google Scholar
PubMed
The National Research Center for the Working Environment, Copenhagen, Denmark
Search for other papers by Vivi Schlünssen in
Google Scholar
PubMed
Search for other papers by Kai Triebner in
Google Scholar
PubMed
K.G. Jebsen Center for Autoimmune Disorders, University of Bergen, Bergen, Norway
Department of Medicine, Haukeland University Hospital, Bergen, Norway
Search for other papers by Marianne Øksnes in
Google Scholar
PubMed
Objective
To investigate markers of premature menopause (<40 years) and specifically the prevalence of autoimmune primary ovarian insufficiency (POI) in European women.
Design
Postmenopausal women were categorized according to age at menopause and self-reported reason for menopause in a cross-sectional analysis of 6870 women.
Methods
Variables associated with the timing of menopause and hormone measurements of 17β-estradiol and follicle-stimulating hormone were explored using multivariable logistic regression analysis. Specific immunoprecipitating assays of steroidogenic autoantibodies against 21-hydroxylase (21-OH), side-chain cleavage enzyme (anti-SCC) and 17alpha-hydroxylase (17 OH), as well as NACHT leucine-rich-repeat protein 5 were used to identify women with likely autoimmune POI.
Results
Premature menopause was identified in 2.8% of women, and these women had higher frequencies of nulliparity (37.4% vs 19.7%), obesity (28.7% vs 21.4%), osteoporosis (17.1% vs 11.6%), hormone replacement therapy (59.1% vs 36.9%) and never smokers (60.1% vs 50.9%) (P < 0.05), compared to women with menopause ≥40 years. Iatrogenic causes were found in 91 (47%) and non-ovarian causes in 27 (14%) women, while 77 (39%) women were classified as POI of unknown cause, resulting in a 1.1% prevalence of idiopathic POI. After adjustments nulliparity was the only variable significantly associated with POI (odds ratio 2.46; 95% CI 1.63–3.42). Based on the presence of autoantibodies against 21 OH and SCC, 4.5% of POI cases were of likely autoimmune origin.
Conclusion
Idiopathic POI affects 1.1% of all women and almost half of the women with premature menopause. Autoimmunity explains 4.5% of these cases judged by positive steroidogenic autoantibodies.
Search for other papers by Panagiotis Anagnostis in
Google Scholar
PubMed
Search for other papers by Irene Lambrinoudaki in
Google Scholar
PubMed
Search for other papers by John C Stevenson in
Google Scholar
PubMed
Search for other papers by Dimitrios G Goulis in
Google Scholar
PubMed
Cardiovascular disease (CVD) is of major concern in women entering menopause. The changing hormonal milieu predisposes them to increased CVD risk, due to a constellation of risk factors, such as visceral obesity, atherogenic dyslipidemia, dysregulation in glucose homeostasis, non-alcoholic fatty liver disease and arterial hypertension. However, an independent association of menopause per se with increased risk of CVD events has only been proven for early menopause (<45 years). Menopausal hormone therapy (MHT) ameliorates most of the CVD risk factors mentioned above. Transdermal estrogens are the preferable regimen, since they do not increase triglyceride concentrations and they are not associated with increased risk of venous thromboembolic events (VTE). Although administration of MHT should be considered on an individual basis, MHT may reduce CVD morbidity and mortality, if commenced during the early postmenopausal period (<60 years or within ten years since the last menstrual period). In women with premature ovarian insufficiency (POI), MHT should be administered at least until the average age of menopause (50–52 years). MHT is contraindicated in women with a history of VTE and is not currently recommended for the sole purpose of CVD prevention. The risk of breast cancer associated with MHT is generally low and is mainly conferred by the progestogen. Micronized progesterone and dydrogesterone are associated with lower risk compared to other progestogens.
Department of Clinical Science, Department of Medicine, Department of Medicine, Pediatric Department, University of Bergen, Bergen, Norway
Search for other papers by Marianne C Astor in
Google Scholar
PubMed
Department of Clinical Science, Department of Medicine, Department of Medicine, Pediatric Department, University of Bergen, Bergen, Norway
Search for other papers by Kristian Løvås in
Google Scholar
PubMed
Search for other papers by Anette S B Wolff in
Google Scholar
PubMed
Search for other papers by Bjørn Nedrebø in
Google Scholar
PubMed
Search for other papers by Eirik Bratland in
Google Scholar
PubMed
Search for other papers by Jon Steen-Johnsen in
Google Scholar
PubMed
Department of Clinical Science, Department of Medicine, Department of Medicine, Pediatric Department, University of Bergen, Bergen, Norway
Search for other papers by Eystein S Husebye in
Google Scholar
PubMed
Primary hypomagnesemia with secondary hypocalcemia (HSH) is an autosomal recessive disorder characterized by neuromuscular symptoms in infancy due to extremely low levels of serum magnesium and moderate to severe hypocalcemia. Homozygous mutations in the magnesium transporter gene transient receptor potential cation channel member 6 (TRPM6) cause the disease. HSH can be misdiagnosed as primary hypoparathyroidism. The aim of this study was to describe the genetic, clinical and biochemical features of patients clinically diagnosed with HSH in a Norwegian cohort. Five patients in four families with clinical features of HSH were identified, including one during a national survey of hypoparathyroidism. The clinical history of the patients and their families were reviewed and gene analyses of TRPM6 performed. Four of five patients presented with generalized seizures in infancy and extremely low levels of serum magnesium accompanied by moderate hypocalcemia. Two of the patients had an older sibling who died in infancy. Four novel mutations and one large deletion in TRPM6 were identified. In one patient two linked homozygous mutations were located in exon 22 (p.F978L) and exon 23 (p.G1042V). Two families had an identical mutation in exon 25 (p.E1155X). The fourth patient had a missense mutation in exon 4 (p.H61N) combined with a large deletion in the C-terminal end of the gene. HSH is a potentially lethal condition that can be misdiagnosed as primary hypoparathyroidism. The diagnosis is easily made if serum magnesium is measured. When treated appropriately with high doses of oral magnesium supplementation, severe hypomagnesemia is uncommon and the long-term prognosis seems to be good.
Search for other papers by Katherine U Gaynor in
Google Scholar
PubMed
Search for other papers by Irina V Grigorieva in
Google Scholar
PubMed
Search for other papers by Samantha M Mirczuk in
Google Scholar
PubMed
Search for other papers by Sian E Piret in
Google Scholar
PubMed
Search for other papers by Kreepa G Kooblall in
Google Scholar
PubMed
Search for other papers by Mark Stevenson in
Google Scholar
PubMed
Search for other papers by Karine Rizzoti in
Google Scholar
PubMed
Search for other papers by Michael R Bowl in
Google Scholar
PubMed
Search for other papers by M Andrew Nesbit in
Google Scholar
PubMed
Search for other papers by Paul T Christie in
Google Scholar
PubMed
Search for other papers by William D Fraser in
Google Scholar
PubMed
Search for other papers by Tertius Hough in
Google Scholar
PubMed
Search for other papers by Michael P Whyte in
Google Scholar
PubMed
Search for other papers by Robin Lovell-Badge in
Google Scholar
PubMed
Search for other papers by Rajesh V Thakker in
Google Scholar
PubMed
Hypoparathyroidism is genetically heterogeneous and characterized by low plasma calcium and parathyroid hormone (PTH) concentrations. X-linked hypoparathyroidism (XLHPT) in two American families is associated with interstitial deletion-insertions involving deletions of chromosome Xq27.1 downstream of SOX3 and insertions of predominantly non-coding DNA from chromosome 2p25.3. These could result in loss, gain, or movement of regulatory elements, which include ultraconserved element uc482, which could alter SOX3 expression. To investigate this, we analysed SOX3 expression in EBV-transformed lymphoblastoid cells from three affected males, three unaffected males, and four carrier females from one XLHPT family. SOX3 expression was similar in all individuals, indicating that the spatiotemporal effect of the interstitial deletion-insertion on SOX3 expression postulated to occur in developing parathyroids did not manifest in lymphoblastoids. Expression of SNTG2, which is duplicated and inserted into the X chromosome, and ATP11C, which is moved telomerically, were also similarly expressed in all individuals. Investigation of male hemizygous (Sox3 −/Y and uc482 −/Y) and female heterozygous (Sox3 +/ − and uc482 +/ −) knockout mice, together with wild-type littermates (male Sox3 +/Y and uc482 +/Y, and female Sox3 +/+ and uc482 +/+), revealed Sox3 −/Y, Sox3 +/ −, uc482 −/Y, and uc482 +/ − mice to have normal plasma biochemistry, compared to their respective wild-type littermates. When challenged with a low calcium diet, all mice had hypocalcaemia, and elevated plasma PTH concentrations and alkaline phosphatase activities, and Sox3 −/Y, Sox3 +/ −, uc482 −/Y, and uc482 +/ − mice had similar plasma biochemistry, compared to wild-type littermates. Thus, these results indicate that absence of Sox3 or uc482 does not cause hypoparathyroidism and that XLHPT likely reflects a more complex mechanism.
Search for other papers by Cristina Lamas in
Google Scholar
PubMed
Search for other papers by Elena Navarro in
Google Scholar
PubMed
Search for other papers by Anna Casterás in
Google Scholar
PubMed
Search for other papers by Paloma Portillo in
Google Scholar
PubMed
Search for other papers by Victoria Alcázar in
Google Scholar
PubMed
Search for other papers by María Calatayud in
Google Scholar
PubMed
Search for other papers by Cristina Álvarez-Escolá in
Google Scholar
PubMed
Search for other papers by Julia Sastre in
Google Scholar
PubMed
Search for other papers by Evangelina Boix in
Google Scholar
PubMed
Search for other papers by Lluis Forga in
Google Scholar
PubMed
Search for other papers by Almudena Vicente in
Google Scholar
PubMed
Search for other papers by Josep Oriola in
Google Scholar
PubMed
Search for other papers by Jordi Mesa in
Google Scholar
PubMed
Search for other papers by Nuria Valdés in
Google Scholar
PubMed
Primary hyperparathyroidism is the most frequent manifestation of multiple endocrine neoplasia type 1 (MEN1) syndrome. Bone and renal complications are common. Surgery is the treatment of choice, but the best timing for surgery is controversial and predictors of persistence and recurrence are not well known. Our study describes the clinical characteristics and the surgical outcomes, after surgery and in the long term, of the patients with MEN1 and primary hyperparathyroidism included in the Spanish Registry of Multiple Endocrine Neoplasia, Pheochromocytomas and Paragangliomas (REGMEN). Eighty-nine patients (49 men and 40 women, 34.2 ± 13 years old) were included. Sixty-four out of the 89 underwent surgery: a total parathyroidectomy was done in 13 patients, a subtotal parathyroidectomy in 34 and a less than subtotal parathyroidectomy in 15. Remission rates were higher after a total or a subtotal parathyroidectomy than after a less than subtotal (3/4 and 20/22 vs 7/12, P < 0.05), without significant differences in permanent hypoparathyroidism (1/5, 9/23 and 0/11, N.S.). After a median follow-up of 111 months, 20 of the 41 operated patients with long-term follow-up had persistent or recurrent hyperparathyroidism. We did not find differences in disease-free survival rates between different techniques, patients with or without permanent hypoparathyroidism and patients with different mutated exons, but a second surgery was more frequent after a less than subtotal parathyroidectomy.
