Search Results

You are looking at 91 - 100 of 131 items for :

  • Abstract: Calcium x
  • Abstract: Hypoparathyroidism x
  • Abstract: Menopause x
  • Abstract: Vitamin D x
Clear All Modify Search
Shuang Ye Department of Physiology, Zhongshan School of Medicine, Sun Yat-Sen University, Guangzhou, China

Search for other papers by Shuang Ye in
Google Scholar
PubMed
Close
,
Yuanyuan Xu Department of Physiology, Zhongshan School of Medicine, Sun Yat-Sen University, Guangzhou, China

Search for other papers by Yuanyuan Xu in
Google Scholar
PubMed
Close
,
Jiehao Li Department of Physiology, Zhongshan School of Medicine, Sun Yat-Sen University, Guangzhou, China

Search for other papers by Jiehao Li in
Google Scholar
PubMed
Close
,
Shuhui Zheng Research Center for Translational Medicine, The First Affiliated Hospital of Sun Yat-Sen University, Guangzhou, China

Search for other papers by Shuhui Zheng in
Google Scholar
PubMed
Close
,
Peng Sun Department of Pathology, Sun Yat-Sen University Cancer Center, State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Guangzhou, China

Search for other papers by Peng Sun in
Google Scholar
PubMed
Close
, and
Tinghuai Wang Department of Physiology, Zhongshan School of Medicine, Sun Yat-Sen University, Guangzhou, China

Search for other papers by Tinghuai Wang in
Google Scholar
PubMed
Close

The role of G protein-coupled estrogen receptor 1 (GPER) signaling, including promotion of Ezrin phosphorylation (which could be activated by estrogen), has not yet been clearly identified in triple-negative breast cancer (TNBC). This study aimed to evaluate the prognostic value of GPER and Ezrin in TNBC patients. Clinicopathologic features including age, menopausal status, tumor size, nuclear grade, lymph node metastasis, AJCC TNM stage, and ER, PR and HER-2 expression were evaluated from 249 TNBC cases. Immunohistochemical staining of GPER and Ezrin was performed on TNBC pathological sections. Kaplan–Meier analyses, as well as logistic regressive and Cox regression model tests were applied to evaluate the prognostic significance between different subgroups. Compared to the GPER-low group, the GPER-high group exhibited higher TNM staging (P = 0.021), more death (P < 0.001), relapse (P < 0.001) and distant events (P < 0.001). Kaplan–Meier analysis showed that GPER-high patients had a decreased OS (P < 0.001), PFS (P < 0.001), LRFS (P < 0.001) and DDFS (P < 0.001) than GPER-low patients. However, these differences in prognosis were not statistically significant in post-menopausal patients (OS, P = 0.8617; PFS, P = 0.1905; LRFS, P = 0.4378; DDFS, P = 0.2538). There was a significant positive correlation between GPER and Ezrin expression level (R = 0.508, P < 0.001) and the effect of Ezrin on survival prognosis corresponded with GPER. Moreover, a multivariable analysis confirmed that GPER and Ezrin level were both significantly associated with poor DDFS (HR: 0.346, 95% CI 0.182–0.658, P = 0.001; HR: 0.320, 95% CI 0.162–0.631, P = 0.001). Thus, overexpression of GPER and Ezrin may contribute to aggressive behavior and indicate unfavorable prognosis in TNBC; this may correspond to an individual’s estrogen levels.

Open access
Kristin Ottarsdottir Primary Health Care, School of Public Health and Community Medicine, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden

Search for other papers by Kristin Ottarsdottir in
Google Scholar
PubMed
Close
,
Margareta Hellgren Primary Health Care, School of Public Health and Community Medicine, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden

Search for other papers by Margareta Hellgren in
Google Scholar
PubMed
Close
,
David Bock Biostatistics, School of Public Health and Community Medicine, Institute of Medicine, University of Gothenburg, Gothenburg, Sweden

Search for other papers by David Bock in
Google Scholar
PubMed
Close
,
Anna G Nilsson Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden
Department of Endocrinology, Sahlgrenska University Hospital, Gothenburg, Sweden

Search for other papers by Anna G Nilsson in
Google Scholar
PubMed
Close
, and
Bledar Daka Primary Health Care, School of Public Health and Community Medicine, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden

Search for other papers by Bledar Daka in
Google Scholar
PubMed
Close

Purpose

We aimed to investigate the association between SHBG and the homeostatic model assessment of insulin resistance (HOMA-Ir) in men and women in a prospective observational study.

Methods

The Vara-Skövde cohort is a random population of 2816 participants living in southwestern Sweden, aged 30–74. It was recruited between 2002 and 2005, and followed up in 2012–2014. After excluding participants on insulin therapy or hormone replacement therapy, 1193 individuals (649 men, 544 women) were included in the present study. Fasting blood samples were collected at both visits and stored in biobank. All participants were physically examined by a trained nurse. SHBG was measured with immunoassay technique. Linear regressions were computed to investigate the association between SHBG and HOMA-Ir both in cross-sectional and longitudinal analyses, adjusting for confounding factors.

Results

The mean follow-up time was 9.7 ± 1.4 years. Concentrations of SHBG were significantly inversely associated with log transformed HOMA-Ir in all groups with estimated standardized slopes (95% CI): men: −0.20 (−0.3;−0.1), premenopausal women: −0.26 (−0.4;−0.2), postmenopausal women: −0.13 (−0.3;−0.0) at visit 1. At visit 2 the results were similar. When comparing the groups, a statistically significant difference was found between men and post-menopausal women (0.12 (0.0;0.2) P value = 0.04). In the fully adjusted model, SHBG at visit 1 was also associated with HOMA-Ir at visit 2, and the estimated slopes were −0.16 (−0.2;−0.1), −0.16 (−0.3;−0.1) and −0.07 (−0.2;0.0) for men, premenopausal and postmenopausal women, respectively.

Main conclusion

Levels of SHBG predicted the development of insulin resistance in both men and women, regardless of menopausal state.

Open access
W N H Koek Department of Internal Medicine, Erasmus MC, University Medical Center, Rotterdam, the Netherlands

Search for other papers by W N H Koek in
Google Scholar
PubMed
Close
,
N Campos-Obando Department of Internal Medicine, Erasmus MC, University Medical Center, Rotterdam, the Netherlands

Search for other papers by N Campos-Obando in
Google Scholar
PubMed
Close
,
B C J van der Eerden Department of Internal Medicine, Erasmus MC, University Medical Center, Rotterdam, the Netherlands

Search for other papers by B C J van der Eerden in
Google Scholar
PubMed
Close
,
Y B de Rijke Department of Clinical Chemistry, Erasmus MC, University Medical Center, Rotterdam, the Netherlands

Search for other papers by Y B de Rijke in
Google Scholar
PubMed
Close
,
M A Ikram Department of Epidemiology, Erasmus MC, Rotterdam, the Netherlands

Search for other papers by M A Ikram in
Google Scholar
PubMed
Close
,
A G Uitterlinden Department of Internal Medicine, Erasmus MC, University Medical Center, Rotterdam, the Netherlands
Department of Epidemiology, Erasmus MC, Rotterdam, the Netherlands

Search for other papers by A G Uitterlinden in
Google Scholar
PubMed
Close
,
J P T M van Leeuwen Department of Internal Medicine, Erasmus MC, University Medical Center, Rotterdam, the Netherlands

Search for other papers by J P T M van Leeuwen in
Google Scholar
PubMed
Close
, and
M C Zillikens Department of Internal Medicine, Erasmus MC, University Medical Center, Rotterdam, the Netherlands

Search for other papers by M C Zillikens in
Google Scholar
PubMed
Close

Background

Sex differences in calcium and phosphate have been observed. We aimed to assess a relation with age.

Methods

We used the laboratory values of serum calcium, phosphate and albumin from three different samples ( 2005, 2010 and 2014 years) using the hospital information system of Erasmus MC, Rotterdam. The samples were divided into three age groups: 1–17, 18–44 and ≥45 years. Sex differences in calcium and phosphate were analyzed using ANCOVA, adjusting for age and serum albumin. Furthermore, sex by age interactions were determined and we analyzed differences between age groups stratified by sex.

Results

In all three samples there was a significant sex × age interaction for serum calcium and phosphate, whose levels were significantly higher in women compared to men above 45 years. No sex differences in the younger age groups were found. In men, serum calcium and phosphate levels were highest in the youngest age group compared to age groups of 18–44 and ≥45 years. In women, serum calcium levels were significantly higher in the age group 1–17 and the age group ≥45 years compared to the 18–44 years age group. In women, serum phosphate was different between the three different age groups with highest level in the group 1–17 years and lowest in the group 18–44 years.

Conclusion

There are age- dependent sex differences in serum calcium and phosphate. Furthermore, we found differences in serum calcium and phosphate between different age groups. Underlying mechanisms for these age- and sex- differences are not yet fully elucidated.

Open access
Emmanuelle Noirrit Inserm U1048 (I2MC), CHU de Toulouse and Université Toulouse III, I2MC, Toulouse, France
Faculté de Chirurgie Dentaire, Université de Toulouse III, Toulouse, France

Search for other papers by Emmanuelle Noirrit in
Google Scholar
PubMed
Close
,
Mélissa Buscato Inserm U1048 (I2MC), CHU de Toulouse and Université Toulouse III, I2MC, Toulouse, France

Search for other papers by Mélissa Buscato in
Google Scholar
PubMed
Close
,
Marion Dupuis Inserm U1048 (I2MC), CHU de Toulouse and Université Toulouse III, I2MC, Toulouse, France

Search for other papers by Marion Dupuis in
Google Scholar
PubMed
Close
,
Bernard Payrastre Inserm U1048 (I2MC), CHU de Toulouse and Université Toulouse III, I2MC, Toulouse, France
CHU de Toulouse, Laboratoire d’Hématologie, Toulouse, France

Search for other papers by Bernard Payrastre in
Google Scholar
PubMed
Close
,
Coralie Fontaine Inserm U1048 (I2MC), CHU de Toulouse and Université Toulouse III, I2MC, Toulouse, France

Search for other papers by Coralie Fontaine in
Google Scholar
PubMed
Close
,
Jean-François Arnal Inserm U1048 (I2MC), CHU de Toulouse and Université Toulouse III, I2MC, Toulouse, France

Search for other papers by Jean-François Arnal in
Google Scholar
PubMed
Close
, and
Marie-Cécile Valera Inserm U1048 (I2MC), CHU de Toulouse and Université Toulouse III, I2MC, Toulouse, France
Faculté de Chirurgie Dentaire, Université de Toulouse III, Toulouse, France

Search for other papers by Marie-Cécile Valera in
Google Scholar
PubMed
Close

Estrogen–progestin therapy was previously considered as the standard of care for managing bothersome symptoms associated with menopause, but it increases risks of breast cancer and of thromboembolism. The combination of conjugated estrogen (CE) with bazedoxifene (BZA) named tissue-selective estrogen complex (TSEC) was designed to minimize or even abrogate the undesirable effects on breast, while maintaining the beneficial effects such as prevention of osteoporosis and suppression of climacteric symptoms. The risk on thromboembolism associated with TSEC is unknown, although the clinical available data are reassuring. The aim of this study was to define the impact of a chronic administration of CE, BZA or CE + BZA on hemostasis and thrombosis in ovariectomized mice. As expected, CE, but not BZA neither CE + BZA, induced uterine and vagina hypertrophy. As previously demonstrated for 17β-estradiol (E2), we found that CE (i) increased tail-bleeding time, (ii) prevented occlusive thrombus formation in injured carotid artery and (iii) protected against collagen/epinephrine-induced thromboembolism. Thus, whereas BZA antagonized CE action on reproductive tissues, it had no impact on the effect of CE on hemostasis, thromboembolism and arterial thrombosis in mice. CE + BZA shared the anti-thrombotic actions of CE in these mouse models. If a similar process is at work in women, CE combined with BZA could contribute to minimize the risk of thrombosis associated with hormone replacement therapy.

Open access
Clarissa Souza Barthem Laboratório de Adaptações Metabólicas, Programa de Bioquímica e Biofísica Celular, Instituto de Bioquímica Médica Leopoldo de Meis, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil

Search for other papers by Clarissa Souza Barthem in
Google Scholar
PubMed
Close
,
Camila Lüdke Rossetti Laboratório de Adaptações Metabólicas, Programa de Bioquímica e Biofísica Celular, Instituto de Bioquímica Médica Leopoldo de Meis, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil
Laboratório de Fisiologia Endócrina Doris Rosenthal, Instituto de Biofísica Carlos Chagas Filho, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil

Search for other papers by Camila Lüdke Rossetti in
Google Scholar
PubMed
Close
,
Denise P Carvalho Laboratório de Fisiologia Endócrina Doris Rosenthal, Instituto de Biofísica Carlos Chagas Filho, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil

Search for other papers by Denise P Carvalho in
Google Scholar
PubMed
Close
, and
Wagner Seixas da-Silva Laboratório de Adaptações Metabólicas, Programa de Bioquímica e Biofísica Celular, Instituto de Bioquímica Médica Leopoldo de Meis, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil

Search for other papers by Wagner Seixas da-Silva in
Google Scholar
PubMed
Close

Estradiol has been used to prevent metabolic diseases, bone loss and menopausal symptoms, even though it might raise the risk of cancer. Metformin is usually prescribed for type 2 diabetes mellitus and lowers food intake and body mass while improving insulin resistance and the lipid profile. Ovariectomized rats show increased body mass, insulin resistance and changes in the lipid profile. Thus, the aim of this work was to evaluate whether metformin could prevent the early metabolic dysfunction that occurs early after ovariectomy. Female Wistar rats were divided into the following groups: SHAM-operated (SHAM), ovariectomized (OVX), ovariectomized + estradiol (OVX + E2) and ovariectomized + metformin (OVX + M). Treatment with metformin diminished approximately 50% of the mass gain observed in ovariectomized animals and reduced both the serum and hepatic triglyceride levels. The hepatic levels of phosphorylated AMP-activated protein kinase (pAMPK) decreased after OVX, and the expression of the inactive form of hepatic acetyl-CoA carboxylase (ACC) was also reduced. Metformin was able to increase the levels of pAMPK in the liver of OVX animals, sustaining the balance between the inactive and total forms of ACC. Estradiol effects were similar to those of metformin but with different proportions. Our results suggest that metformin ameliorates the early alterations of metabolic parameters and rescues hepatic AMPK phosphorylation and ACC inactivation observed in ovariectomized rats.

Open access
Keina Nishio Department of Obstetrics and Gynecology, Osaka Medical College, 2-7 Daigaku-machi, Takatsuki-city, Osaka 569-8686, Japan

Search for other papers by Keina Nishio in
Google Scholar
PubMed
Close
,
Akiko Tanabe Department of Obstetrics and Gynecology, Osaka Medical College, 2-7 Daigaku-machi, Takatsuki-city, Osaka 569-8686, Japan

Search for other papers by Akiko Tanabe in
Google Scholar
PubMed
Close
,
Risa Maruoka Department of Obstetrics and Gynecology, Osaka Medical College, 2-7 Daigaku-machi, Takatsuki-city, Osaka 569-8686, Japan

Search for other papers by Risa Maruoka in
Google Scholar
PubMed
Close
,
Kiyoko Nakamura Department of Obstetrics and Gynecology, Osaka Medical College, 2-7 Daigaku-machi, Takatsuki-city, Osaka 569-8686, Japan

Search for other papers by Kiyoko Nakamura in
Google Scholar
PubMed
Close
,
Masaaki Takai Department of Obstetrics and Gynecology, Osaka Medical College, 2-7 Daigaku-machi, Takatsuki-city, Osaka 569-8686, Japan

Search for other papers by Masaaki Takai in
Google Scholar
PubMed
Close
,
Tatsuharu Sekijima Department of Obstetrics and Gynecology, Osaka Medical College, 2-7 Daigaku-machi, Takatsuki-city, Osaka 569-8686, Japan

Search for other papers by Tatsuharu Sekijima in
Google Scholar
PubMed
Close
,
Satoshi Tunetoh Department of Obstetrics and Gynecology, Osaka Medical College, 2-7 Daigaku-machi, Takatsuki-city, Osaka 569-8686, Japan

Search for other papers by Satoshi Tunetoh in
Google Scholar
PubMed
Close
,
Yoshito Terai Department of Obstetrics and Gynecology, Osaka Medical College, 2-7 Daigaku-machi, Takatsuki-city, Osaka 569-8686, Japan

Search for other papers by Yoshito Terai in
Google Scholar
PubMed
Close
, and
Masahide Ohmichi Department of Obstetrics and Gynecology, Osaka Medical College, 2-7 Daigaku-machi, Takatsuki-city, Osaka 569-8686, Japan

Search for other papers by Masahide Ohmichi in
Google Scholar
PubMed
Close

Objective

Although surgical menopause may increase the risks of osteoporosis, few studies have investigated the influence of chemotherapy and radiation therapy. The aim of this study is to evaluate the effects of treatments for gynecological malignancies on bone mineral density (BMD).

Methods

This study enrolled 35 premenopausal women (15 ovarian cancers (OCs), 9 endometrial cancers (ECs), and 11 cervical cancers (CCs)) who underwent surgical treatment that included bilateral oophorectomy with or without adjuvant platinum-based chemotherapy in OC and EC patients, or concurrent chemo-radiation therapy (CCRT) in CC patients according to the established protocols at the Osaka Medical College Hospital between 2006 and 2008. The BMD of the lumbar spine (L1–L4) was measured by dual-energy X-ray absorptiometry, and urine cross-linked telopeptides of type I collagen (NTx) and bone alkaline phosphatase (BAP) were assessed for evaluation of bone resorption and bone formation respectively. These assessments were performed at baseline and 12 months after treatment.

Results

Although the serum BAP was significantly increased only in the CC group, a rapid increase in the bone resorption marker urinary NTx was observed in all groups. The BMD, 12 months after CCRT was significantly decreased in the CC group at 91.9±5.9% (P<0.05 in comparison to the baseline).

Conclusion

This research suggests that anticancer therapies for premenopausal women with gynecological malignancies increase bone resorption and may reduce BMD, particularly in CC patients who have received CCRT. Therefore, gynecologic cancer survivors should be educated about these potential risks and complications.

Open access
Alessandro Brancatella Endocrine Unit 1, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy

Search for other papers by Alessandro Brancatella in
Google Scholar
PubMed
Close
and
Claudio Marcocci Endocrine Unit 2, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy

Search for other papers by Claudio Marcocci in
Google Scholar
PubMed
Close

Thyroid hormones stimulate bone turnover in adults by increasing osteoclastic bone resorption. TSH suppressive therapy is usually applied in patients with differentiated thyroid cancer (DTC) to improve the disease outcome. Over the last decades several authors have closely monitored the potential harm suffered by the skeletal system. Several studies and meta-analyses have shown that chronic TSH suppressive therapy is safe in premenopausal women and men. Conversely, in postmenopausal women TSH suppressive therapy is associated with a decrease of bone mineral density, deterioration of bone architecture (quantitative CT, QCT; trabecular bone score, TBS), and, possibly, an increased risk of fractures. The TSH receptor is expressed in bone cells and the results of experimental studies in TSH receptor knockout mice and humans on whether low TSH levels, as opposed to solely high thyroid hormone levels, might contribute to bone loss in endogenous or exogenous thyrotoxicosis remain controversial. Recent guidelines on the use of TSH suppressive therapy in patients with DTC give value not only to its benefit on the outcome of the disease, but also to the risks associated with exogenous thyrotoxicosis, namely menopause, osteopenia or osteoporosis, age >60 years, and history of atrial fibrillation. Bone health (BMD and/or preferably TBS) should be evaluated in postmenopausal women under chronic TSH suppressive therapy or in those patients planning to be treated for several years. Antiresorptive therapy could also be considered in selected cases (increased risk of fracture or significant decline of BMD/TBS during therapy) to prevent bone loss.

Open access
Frederic Schrøder Arendrup Department of Neurology, Danish Headache Center, Rigshospitalet, University of Copenhagen, Denmark

Search for other papers by Frederic Schrøder Arendrup in
Google Scholar
PubMed
Close
,
Severine Mazaud-Guittot Inserm (Institut National de la Santé et de la Recherche Médicale), Irset – Inserm, UMR 1085, Rennes, France

Search for other papers by Severine Mazaud-Guittot in
Google Scholar
PubMed
Close
,
Bernard Jégou Inserm (Institut National de la Santé et de la Recherche Médicale), Irset – Inserm, UMR 1085, Rennes, France
EHESP-School of Public Health, Rennes, France

Search for other papers by Bernard Jégou in
Google Scholar
PubMed
Close
, and
David Møbjerg Kristensen Department of Neurology, Danish Headache Center, Rigshospitalet, University of Copenhagen, Denmark
Inserm (Institut National de la Santé et de la Recherche Médicale), Irset – Inserm, UMR 1085, Rennes, France

Search for other papers by David Møbjerg Kristensen in
Google Scholar
PubMed
Close

Concern has been raised over chemical-induced disruption of ovary development during fetal life resulting in long-lasting consequences only manifesting themselves much later during adulthood. A growing body of evidence suggests that prenatal exposure to the mild analgesic acetaminophen/paracetamol can cause such a scenario. Therefore, in this review, we discuss three recent reports that collectively indicate that prenatal exposure in a period of 13.5 days post coitum in both rats and mouse can result in reduced female reproductive health. The combined data show that the exposure results in the reduction of primordial follicles, irregular menstrual cycle, premature absence of corpus luteum, as well as reduced fertility, resembling premature ovarian insufficiency syndrome in humans that is linked to premature menopause. This could especially affect the Western parts of the world, where the age for childbirth is continuously being increased and acetaminophen is recommended during pregnancy for pain and fever. We therefore highlight an urgent need for more studies to verify these data including both experimental and epidemiological approaches.

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
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