Search Results

You are looking at 81 - 90 of 136 items for :

  • Abstract: Hypoparathyroidism x
  • Abstract: Osteo* x
  • Abstract: Vitamin D x
Clear All Modify Search
Ozlem Atan Sahin Department of Pediatrics, Acıbadem University School of Medicine, Atasehir, Istanbul, Turkey

Search for other papers by Ozlem Atan Sahin in
Google Scholar
PubMed
Close
,
Damla Goksen Department of Pediatric Endocrinology, Faculty of Medicine, Ege University, Bornova, Izmir, Turkey

Search for other papers by Damla Goksen in
Google Scholar
PubMed
Close
,
Aysel Ozpinar Department of Biochemistry, Acıbadem University, School of Medicine, Atasehir, Istanbul, Turkey

Search for other papers by Aysel Ozpinar in
Google Scholar
PubMed
Close
,
Muhittin Serdar Department of Biochemistry, Acıbadem University, School of Medicine, Atasehir, Istanbul, Turkey

Search for other papers by Muhittin Serdar in
Google Scholar
PubMed
Close
, and
Huseyin Onay Department of Medical Genetics, Faculty of Medicine, Ege University, Bornova, Izmir, Turkey

Search for other papers by Huseyin Onay in
Google Scholar
PubMed
Close

Background

There have been studies focused on FokI, BsmI, ApaI and TaqI polymorphisms of the vitamin D receptor (VDR) gene and susceptibility to type 1 diabetes mellitus with controversial results.

Methods

This present study is a meta-analysis investigating the association between FokI, ApaI, TaqI and BsmI polymorphisms of VDR gene and type 1 DM in children. A literature search was performed using Medline, EMBASE, Cochrane and PubMed. Any study was considered eligible for inclusion if at least one of FokI, ApaI, TaqI and BsmI polymorphisms was determined, and outcome was type 1 DM at pediatric age.

Results

A total of 9 studies comprising 1053 patients and 1017 controls met the study inclusion criteria. The pooled odds ratios (ORs) of the FokI, ApaI, TaqI and BsmI polymorphisms were combined and calculated. Forest plots and funnel plots of the OR value distributions were drawn. Our meta-analysis has demonstrated statistically significant associations between DM1 and VDR genotypes, BsmIBB (P < 0.05), BsmIBb, (P < 0.05), BsmIbb (P < 0.05), TaqITT (P < 0.05) and TaqItt (P < 0.05) in children.

Conclusion

The results indicated that BsmIBB, BsmIBb and TaqItt polymorphisms were associated with an increased risk of type 1 DM, whereas BsmIbb and TaqITT had protective effect for type 1 DM in children.

Open access
June Young Choi Department of Surgery, Seoul National University Bundang Hospital, Seongnam-si, Korea

Search for other papers by June Young Choi in
Google Scholar
PubMed
Close
,
Jin Wook Yi Department of Surgery, Seoul National University Hospital and College of Medicine, Seoul, Korea

Search for other papers by Jin Wook Yi in
Google Scholar
PubMed
Close
,
Jun Hyup Lee Department of Surgery, Seoul National University Hospital and College of Medicine, Seoul, Korea

Search for other papers by Jun Hyup Lee in
Google Scholar
PubMed
Close
,
Ra-Yeong Song Department of Surgery, Seoul National University Hospital and College of Medicine, Seoul, Korea

Search for other papers by Ra-Yeong Song in
Google Scholar
PubMed
Close
,
Hyeongwon Yu Department of Surgery, Seoul National University Bundang Hospital, Seongnam-si, Korea

Search for other papers by Hyeongwon Yu in
Google Scholar
PubMed
Close
,
Hyungju Kwon Department of Surgery, Seoul National University Hospital and College of Medicine, Seoul, Korea

Search for other papers by Hyungju Kwon in
Google Scholar
PubMed
Close
,
Young Jun Chai Department of Surgery, Seoul National University Boramae Hospital, Seoul, Korea

Search for other papers by Young Jun Chai in
Google Scholar
PubMed
Close
,
Su-jin Kim Department of Surgery, Seoul National University Hospital and College of Medicine, Seoul, Korea

Search for other papers by Su-jin Kim in
Google Scholar
PubMed
Close
, and
Kyu Eun Lee Department of Surgery, Seoul National University Hospital and College of Medicine, Seoul, Korea

Search for other papers by Kyu Eun Lee in
Google Scholar
PubMed
Close

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.

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
Federica Saponaro Department of Surgical, Medical, Molecular and Critical Area Pathology, Laboratory of Biochemistry, University of Pisa, Pisa, Italy
Endocrinology Unit 2, University of Pisa, Pisa, Italy

Search for other papers by Federica Saponaro in
Google Scholar
PubMed
Close
,
Alessandro Saba Department of Surgical, Medical, Molecular and Critical Area Pathology, Laboratory of Biochemistry, University of Pisa, Pisa, Italy
Laboratory of Clinical Pathology, University Hospital of Pisa, Pisa, Italy

Search for other papers by Alessandro Saba in
Google Scholar
PubMed
Close
,
Sabina Frascarelli Department of Surgical, Medical, Molecular and Critical Area Pathology, Laboratory of Biochemistry, University of Pisa, Pisa, Italy

Search for other papers by Sabina Frascarelli in
Google Scholar
PubMed
Close
,
Concetta Prontera Fondazione Toscana Gabriele Monasterio, Pisa, Italy

Search for other papers by Concetta Prontera in
Google Scholar
PubMed
Close
,
Aldo Clerico Fondazione Toscana Gabriele Monasterio, Pisa, Italy

Search for other papers by Aldo Clerico in
Google Scholar
PubMed
Close
,
Marco Scalese Institute of Clinical Physiology, National Council of Research, Pisa, Italy

Search for other papers by Marco Scalese in
Google Scholar
PubMed
Close
,
Maria Rita Sessa Laboratory of Endocrinology, University Hospital of Pisa, Pisa, Italy

Search for other papers by Maria Rita Sessa in
Google Scholar
PubMed
Close
,
Filomena Cetani Endocrinology Unit 2, University of Pisa, Pisa, Italy

Search for other papers by Filomena Cetani in
Google Scholar
PubMed
Close
,
Simona Borsari Endocrinology Unit 2, University of Pisa, Pisa, Italy

Search for other papers by Simona Borsari in
Google Scholar
PubMed
Close
,
Elena Pardi Endocrinology Unit 2, University of Pisa, Pisa, Italy

Search for other papers by Elena Pardi in
Google Scholar
PubMed
Close
,
Antonella Marvelli Department of Translational Research and of New Surgical and Medical Technologies, University of Pisa, Pisa, Italy

Search for other papers by Antonella Marvelli in
Google Scholar
PubMed
Close
,
Claudio Marcocci Endocrinology Unit 2, University of Pisa, Pisa, Italy

Search for other papers by Claudio Marcocci in
Google Scholar
PubMed
Close
,
Claudio Passino Fondazione Toscana Gabriele Monasterio, Pisa, Italy

Search for other papers by Claudio Passino in
Google Scholar
PubMed
Close
, and
Riccardo Zucchi Department of Surgical, Medical, Molecular and Critical Area Pathology, Laboratory of Biochemistry, University of Pisa, Pisa, Italy

Search for other papers by Riccardo Zucchi in
Google Scholar
PubMed
Close

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.

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
Marianne C Astor Department of Clinical Science, Department of Medicine, Department of Medicine, Pediatric Department, University of Bergen, Bergen, Norway
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
Close
,
Kristian Løvås Department of Clinical Science, Department of Medicine, Department of Medicine, Pediatric Department, University of Bergen, Bergen, Norway
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
Close
,
Anette S B Wolff Department of Clinical Science, Department of Medicine, Department of Medicine, Pediatric Department, University of Bergen, Bergen, Norway

Search for other papers by Anette S B Wolff in
Google Scholar
PubMed
Close
,
Bjørn Nedrebø Department of Clinical Science, Department of Medicine, Department of Medicine, Pediatric Department, University of Bergen, Bergen, Norway

Search for other papers by Bjørn Nedrebø in
Google Scholar
PubMed
Close
,
Eirik Bratland Department of Clinical Science, Department of Medicine, Department of Medicine, Pediatric Department, University of Bergen, Bergen, Norway

Search for other papers by Eirik Bratland in
Google Scholar
PubMed
Close
,
Jon Steen-Johnsen Department of Clinical Science, Department of Medicine, Department of Medicine, Pediatric Department, University of Bergen, Bergen, Norway

Search for other papers by Jon Steen-Johnsen in
Google Scholar
PubMed
Close
, and
Eystein S Husebye Department of Clinical Science, Department of Medicine, Department of Medicine, Pediatric Department, University of Bergen, Bergen, Norway
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
Close

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.

Open access
Katherine U Gaynor Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Oxford, UK

Search for other papers by Katherine U Gaynor in
Google Scholar
PubMed
Close
,
Irina V Grigorieva Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Oxford, UK

Search for other papers by Irina V Grigorieva in
Google Scholar
PubMed
Close
,
Samantha M Mirczuk Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Oxford, UK

Search for other papers by Samantha M Mirczuk in
Google Scholar
PubMed
Close
,
Sian E Piret Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Oxford, UK

Search for other papers by Sian E Piret in
Google Scholar
PubMed
Close
,
Kreepa G Kooblall Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Oxford, UK

Search for other papers by Kreepa G Kooblall in
Google Scholar
PubMed
Close
,
Mark Stevenson Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Oxford, UK

Search for other papers by Mark Stevenson in
Google Scholar
PubMed
Close
,
Karine Rizzoti The Francis Crick Institute, London, UK

Search for other papers by Karine Rizzoti in
Google Scholar
PubMed
Close
,
Michael R Bowl Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Oxford, UK

Search for other papers by Michael R Bowl in
Google Scholar
PubMed
Close
,
M Andrew Nesbit Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Oxford, UK

Search for other papers by M Andrew Nesbit in
Google Scholar
PubMed
Close
,
Paul T Christie Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Oxford, UK

Search for other papers by Paul T Christie in
Google Scholar
PubMed
Close
,
William D Fraser Norwich Medical School, Faculty of Medicine and Health Sciences, University of East Anglia, Norwich, UK

Search for other papers by William D Fraser in
Google Scholar
PubMed
Close
,
Tertius Hough MRC Mammalian Genetics Unit, MRC Harwell Institute, Harwell Science and Innovation Campus, Oxfordshire, UK

Search for other papers by Tertius Hough in
Google Scholar
PubMed
Close
,
Michael P Whyte Washington University in St Louis School of Medicine, Center for Metabolic Bone Disease and Molecular Research, St Louis, Missouri, USA

Search for other papers by Michael P Whyte in
Google Scholar
PubMed
Close
,
Robin Lovell-Badge The Francis Crick Institute, London, UK

Search for other papers by Robin Lovell-Badge in
Google Scholar
PubMed
Close
, and
Rajesh V Thakker Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Oxford, UK

Search for other papers by Rajesh V Thakker in
Google Scholar
PubMed
Close

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.

Open access
Cristina Lamas Department of Endocrinology and Nutrition, Complejo Hospitalario Universitario de Albacete, Albacete, Spain

Search for other papers by Cristina Lamas in
Google Scholar
PubMed
Close
,
Elena Navarro Department of Endocrinology and Nutrition, Hospital Universitario Virgen del Rocío, Sevilla, Spain

Search for other papers by Elena Navarro in
Google Scholar
PubMed
Close
,
Anna Casterás Department of Endocrinology and Nutrition, Hospital Vall d’Hebron, Barcelona, Spain

Search for other papers by Anna Casterás in
Google Scholar
PubMed
Close
,
Paloma Portillo Department of Endocrinology and Nutrition, Hospital Clínico Universitario Virgen de la Arrixaca, Murcia, Spain

Search for other papers by Paloma Portillo in
Google Scholar
PubMed
Close
,
Victoria Alcázar Department of Endocrinology and Nutrition, Hospital Universitario Severo Ochoa, Leganés, Spain

Search for other papers by Victoria Alcázar in
Google Scholar
PubMed
Close
,
María Calatayud Department of Endocrinology and Nutrition, Hospital Univeristario Doce de Octubre, Madrid, Spain

Search for other papers by María Calatayud in
Google Scholar
PubMed
Close
,
Cristina Álvarez-Escolá Department of Endocrinology and Nutrition, Hospital Universitario La Paz, Madrid, Spain

Search for other papers by Cristina Álvarez-Escolá in
Google Scholar
PubMed
Close
,
Julia Sastre Department of Endocrinology and Nutrition, Complejo Hospitalario de Toledo, Hospital Virgen de la Salud, Toledo, Spain

Search for other papers by Julia Sastre in
Google Scholar
PubMed
Close
,
Evangelina Boix Department of Endocrinology and Nutrition, Hospital General Universitario de Elche, Elche, Spain

Search for other papers by Evangelina Boix in
Google Scholar
PubMed
Close
,
Lluis Forga Department of Endocrinology and Nutrition, Complejo Hospitalario de Navarra, Hospital de Navarra, Pamplona, Spain

Search for other papers by Lluis Forga in
Google Scholar
PubMed
Close
,
Almudena Vicente Department of Endocrinology and Nutrition, Complejo Hospitalario de Toledo, Hospital Virgen de la Salud, Toledo, Spain

Search for other papers by Almudena Vicente in
Google Scholar
PubMed
Close
,
Josep Oriola Biochemistry and Molecular Genetics Department, Hospital Clínic i Universitari de Barcelona, Barcelona, Spain

Search for other papers by Josep Oriola in
Google Scholar
PubMed
Close
,
Jordi Mesa Department of Endocrinology and Nutrition, Hospital Vall d’Hebron, Barcelona, Spain

Search for other papers by Jordi Mesa in
Google Scholar
PubMed
Close
, and
Nuria Valdés Department of Endocrinology and Nutrition, Hospital Universitario Central de Asturias, Oviedo, Spain

Search for other papers by Nuria Valdés in
Google Scholar
PubMed
Close

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.

Open access
Marília D’Elboux Guimarães Brescia Endocrine Genetics Unit (LIM-25), Endocrinology Division, University of São Paulo School of Medicine (FMUSP), Faculdade de Medicina da Universidade de São Paulo (FMUSP), Hospital das Clinicas (HCFMUSP), São Paulo, São Paulo, Brazil
Parathyroid Unit – LIM-28, Laboratório de Cirurgia de Cabeça e Pescoço, Division of Head and Neck Surgery, Department of Surgery, Hospital das Clinicas (HCFMUSP), University of São Paulo School of Medicine (FMUSP), Faculdade de Medicina, Universidade de São Paulo, São Paulo, São Paulo, Brazil

Search for other papers by Marília D’Elboux Guimarães Brescia in
Google Scholar
PubMed
Close
,
Karine Candido Rodrigues Endocrine Genetics Unit (LIM-25), Endocrinology Division, University of São Paulo School of Medicine (FMUSP), Faculdade de Medicina da Universidade de São Paulo (FMUSP), Hospital das Clinicas (HCFMUSP), São Paulo, São Paulo, Brazil
Endocrine Oncology Division, Institute of Cancer of the State of São Paulo (ICESP), University of São Paulo School of Medicine (FMUSP), Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, São Paulo, Brazil

Search for other papers by Karine Candido Rodrigues in
Google Scholar
PubMed
Close
,
André Fernandes d’Alessandro Parathyroid Unit – LIM-28, Laboratório de Cirurgia de Cabeça e Pescoço, Division of Head and Neck Surgery, Department of Surgery, Hospital das Clinicas (HCFMUSP), University of São Paulo School of Medicine (FMUSP), Faculdade de Medicina, Universidade de São Paulo, São Paulo, São Paulo, Brazil

Search for other papers by André Fernandes d’Alessandro in
Google Scholar
PubMed
Close
,
Wellington Alves Filho Department of Surgery, Walter Cantidio University Hospital, Federal University of Ceara School of Medicine (FAMED-UFC), Fortaleza, Brazil

Search for other papers by Wellington Alves Filho in
Google Scholar
PubMed
Close
,
Willemijn Y van der Plas Department of Surgery, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands

Search for other papers by Willemijn Y van der Plas in
Google Scholar
PubMed
Close
,
Schelto Kruijff Department of Surgery, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands

Search for other papers by Schelto Kruijff in
Google Scholar
PubMed
Close
,
Sergio Samir Arap Parathyroid Unit – LIM-28, Laboratório de Cirurgia de Cabeça e Pescoço, Division of Head and Neck Surgery, Department of Surgery, Hospital das Clinicas (HCFMUSP), University of São Paulo School of Medicine (FMUSP), Faculdade de Medicina, Universidade de São Paulo, São Paulo, São Paulo, Brazil

Search for other papers by Sergio Samir Arap in
Google Scholar
PubMed
Close
,
Sergio Pereira de Almeida Toledo Endocrine Genetics Unit (LIM-25), Endocrinology Division, University of São Paulo School of Medicine (FMUSP), Faculdade de Medicina da Universidade de São Paulo (FMUSP), Hospital das Clinicas (HCFMUSP), São Paulo, São Paulo, Brazil

Search for other papers by Sergio Pereira de Almeida Toledo in
Google Scholar
PubMed
Close
,
Fábio Luiz de Menezes Montenegro Parathyroid Unit – LIM-28, Laboratório de Cirurgia de Cabeça e Pescoço, Division of Head and Neck Surgery, Department of Surgery, Hospital das Clinicas (HCFMUSP), University of São Paulo School of Medicine (FMUSP), Faculdade de Medicina, Universidade de São Paulo, São Paulo, São Paulo, Brazil

Search for other papers by Fábio Luiz de Menezes Montenegro in
Google Scholar
PubMed
Close
, and
Delmar Muniz Lourenço Jr Endocrine Genetics Unit (LIM-25), Endocrinology Division, University of São Paulo School of Medicine (FMUSP), Faculdade de Medicina da Universidade de São Paulo (FMUSP), Hospital das Clinicas (HCFMUSP), São Paulo, São Paulo, Brazil
Endocrine Oncology Division, Institute of Cancer of the State of São Paulo (ICESP), University of São Paulo School of Medicine (FMUSP), Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, São Paulo, Brazil

Search for other papers by Delmar Muniz Lourenço Jr in
Google Scholar
PubMed
Close

Background

Potential influences of parathyroidectomy (PTx) on the quality of life (QoL) in multiple endocrine neoplasia type 1-related primary hyperparathyroidism (HPT/MEN1) are unknown.

Method

Short Form 36 Health Survey Questionnaire was prospectively applied to 30 HPT/MEN1 patients submitted to PTx (20, subtotal; 10, total with autograft) before, 6 and 12 months after surgery. Parameters that were analyzed included QoL, age, HPT-related symptoms, general pain, comorbidities, biochemical/hormonal response, PTx type and parathyroid volume.

Results

Asymptomatic patients were younger (30 vs 38 years; P = 0.04) and presented higher QoL scores than symptomatic ones: Physical Component Summary score (PCS) 92.5 vs 61.2, P = 0.0051; Mental Component Summary score (MCS) 82.0 vs 56.0, P = 0.04. In both groups, QoL remained stable 1 year after PTx, independently of the number of comorbidities. Preoperative general pain was negatively correlated with PCS (r = −0.60, P = 0.0004) and MCS (r = −0.57, P = 0.0009). Also, moderate/intense pain was progressively (6/12 months) more frequent in cases developing hypoparathyroidism. The PTx type and hypoparathyroidism did not affect the QoL at 12 months although remnant parathyroid tissue volume did have a positive correlation (P = 0.0490; r = 0.3625) to PCS 12 months after surgery. Patients with one to two comorbidities had as pre-PTx PCS (P = 0.0015) as 12 months and post-PTx PCS (P = 0.0031) and MCS (P = 0.0365) better than patients with three to four comorbidities.

Conclusion

A variable QoL profile was underscored in HPT/MEN1 reflecting multiple factors associated with this complex disorder as comorbidities, advanced age at PTx and presence of preoperative symptoms or of general pain perception. Our data encourage the early indication of PTx in HPT/MEN1 by providing known metabolic benefits to target organs and avoiding potential negative impact on QoL.

Open access
Maria Stelmachowska-Banaś Department of Endocrinology, The Centre of Postgraduate Medical Education, Warsaw, Polska, Poland

Search for other papers by Maria Stelmachowska-Banaś in
Google Scholar
PubMed
Close
and
Izabella Czajka-Oraniec Department of Endocrinology, The Centre of Postgraduate Medical Education, Warsaw, Polska, Poland

Search for other papers by Izabella Czajka-Oraniec in
Google Scholar
PubMed
Close

Immune checkpoint inhibitors (ICIs) belong to a new group of anticancer drugs targeting T-cell proteins involved in the activation of immune response toward malignancies. Their introduction into clinical practice was a milestone in modern cancer treatment. However, the significant advantage of ICIs over conventional chemotherapy in terms of therapeutic efficacy is accompanied by new challenges related to specific side effects. ICI-induced immune system activation could lead to the loss of self-tolerance, presenting as autoimmune inflammation and dysfunction of various tissues and organs. Thus, the typical side effects of ICIs include immune-related adverse events (irAEs), among which endocrine irAEs, affecting numerous endocrine glands, have been commonly recognized. This review aimed to outline the current knowledge regarding ICI-induced endocrine disorders from a clinical perspective. We present updated information on the incidence and clinical development of ICI-induced endocrinopathies, including the most frequent thyroiditis and hypophysitis, the rarely observed insulin-dependent diabetes mellitus and primary adrenal insufficiency, and the recently described cases of hypoparathyroidism and lipodystrophy. Practical guidelines for monitoring, diagnosis, and treatment of ICI-related endocrine toxicities are also offered. Rising awareness of endocrine irAEs among oncologists, endocrinologists, and other health professionals caring for patients receiving ICIs could contribute to better safety and efficacy. As immunotherapy becomes widespread and approved for new types of malignancies, increased incidences of endocrine irAEs are expected in the future.

Open access