Search Results

You are looking at 91 - 100 of 136 items for :

  • Abstract: Hypoparathyroidism x
  • Abstract: Osteo* x
  • Abstract: Vitamin D x
Clear All Modify Search
Ghazala Zaidi Departments of Endocrinology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India

Search for other papers by Ghazala Zaidi in
Google Scholar
PubMed
Close
,
Vijayalakshmi Bhatia Departments of Endocrinology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India

Search for other papers by Vijayalakshmi Bhatia in
Google Scholar
PubMed
Close
,
Saroj K Sahoo Departments of Endocrinology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India

Search for other papers by Saroj K Sahoo in
Google Scholar
PubMed
Close
,
Aditya Narayan Sarangi Departments of Gastroenterology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India

Search for other papers by Aditya Narayan Sarangi in
Google Scholar
PubMed
Close
,
Niharika Bharti Departments of Endocrinology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India

Search for other papers by Niharika Bharti in
Google Scholar
PubMed
Close
,
Li Zhang Department of Immunology, Barbara Davis Centre for Childhood Diabetes, Denver, USA

Search for other papers by Li Zhang in
Google Scholar
PubMed
Close
,
Liping Yu Department of Immunology, Barbara Davis Centre for Childhood Diabetes, Denver, USA

Search for other papers by Liping Yu in
Google Scholar
PubMed
Close
,
Daniel Eriksson Department of Medicine (Solna), Karolinska University Hospital, Karolinska Institutet, Stockholm, Sweden

Search for other papers by Daniel Eriksson in
Google Scholar
PubMed
Close
,
Sophie Bensing Department of Molecular Medicine and Surgery, Karolinska Institutet, and Department of Endocrinology, Metabolism and Diabetes, Karolinska University Hospital, Stockholm, Sweden

Search for other papers by Sophie Bensing in
Google Scholar
PubMed
Close
,
Olle Kämpe Department of Medicine (Solna), Karolinska University Hospital, Karolinska Institutet, Stockholm, Sweden
Science for Life Laboratory, Department of Medical Sciences, Uppsala University, Sweden

Search for other papers by Olle Kämpe in
Google Scholar
PubMed
Close
,
Nisha Bharani Department of Endocrinology, Amrita Institute of Medical Sciences, Kochi, India

Search for other papers by Nisha Bharani in
Google Scholar
PubMed
Close
,
Surendra Kumar Yachha Departments of Paediatric Gastroenterology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India

Search for other papers by Surendra Kumar Yachha in
Google Scholar
PubMed
Close
,
Anil Bhansali Department of Endocrinology, Postgraduate Institute of Medical Education and Research, Chandigarh, India

Search for other papers by Anil Bhansali in
Google Scholar
PubMed
Close
,
Alok Sachan Department of Endocrinology, Sri Venkateshwara Institute of Medical Sciences, Tirupathi, India

Search for other papers by Alok Sachan in
Google Scholar
PubMed
Close
,
Vandana Jain Department of Paediatrics, All India Institute of Medical Sciences, New Delhi, India

Search for other papers by Vandana Jain in
Google Scholar
PubMed
Close
,
Nalini Shah Department of Endocrinology, King Edward Memorial Hospital, Seth GS Medical College, Mumbai, India

Search for other papers by Nalini Shah in
Google Scholar
PubMed
Close
,
Rakesh Aggarwal Departments of Gastroenterology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India

Search for other papers by Rakesh Aggarwal in
Google Scholar
PubMed
Close
,
Amita Aggarwal Departments of Clinical Immunology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India

Search for other papers by Amita Aggarwal in
Google Scholar
PubMed
Close
,
Muthuswamy Srinivasan Departments of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India

Search for other papers by Muthuswamy Srinivasan in
Google Scholar
PubMed
Close
,
Sarita Agarwal Departments of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India

Search for other papers by Sarita Agarwal in
Google Scholar
PubMed
Close
, and
Eesh Bhatia Departments of Endocrinology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India

Search for other papers by Eesh Bhatia in
Google Scholar
PubMed
Close

Objective

Autoimmune polyendocrine syndrome type 1 (APS1) is a rare autosomal recessive disorder characterized by progressive organ-specific autoimmunity. There is scant information on APS1 in ethnic groups other than European Caucasians. We studied clinical aspects and autoimmune regulator (AIRE) gene mutations in a cohort of Indian APS1 patients.

Design

Twenty-three patients (19 families) from six referral centres in India, diagnosed between 1996 and 2016, were followed for [median (range)] 4 (0.2–19) years.

Methods

Clinical features, mortality, organ-specific autoantibodies and AIRE gene mutations were studied.

Results

Patients varied widely in their age of presentation [3.5 (0.1–17) years] and number of clinical manifestations [5 (2–11)]. Despite genetic heterogeneity, the frequencies of the major APS1 components (mucocutaneous candidiasis: 96%; hypoparathyroidism: 91%; primary adrenal insufficiency: 55%) were similar to reports in European series. In contrast, primary hypothyroidism (23%) occurred more frequently and at an early age, while kerato-conjunctivitis, urticarial rash and autoimmune hepatitis were uncommon (9% each). Six (26%) patients died at a young age [5.8 (3–23) years] due to septicaemia, hepatic failure and adrenal/hypocalcaemic crisis from non-compliance/unexplained cause. Interferon-α and/or interleukin-22 antibodies were elevated in all 19 patients tested, including an asymptomatic infant. Eleven AIRE mutations were detected, the most common being p.C322fsX372 (haplotype frequency 37%). Four mutations were novel, while six others were previously described in European Caucasians.

Conclusions

Indian APS1 patients exhibited considerable genetic heterogeneity and had highly variable clinical features. While the frequency of major manifestations was similar to that of European Caucasians, other features showed significant differences. A high mortality at a young age was observed.

Open access
Georgios Kontogeorgos Section for Geriatrics and Emergency Medicine, Department of Medicine, Sahlgrenska University Hospital/Ostra, Gothenburg, Sweden
Department of Internal Medicine and Clinical Nutrition, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden

Search for other papers by Georgios Kontogeorgos in
Google Scholar
PubMed
Close
,
Zoi Mamasoula Section for Geriatrics and Emergency Medicine, Department of Medicine, Sahlgrenska University Hospital/Ostra, Gothenburg, Sweden
Department of Internal Medicine and Clinical Nutrition, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden

Search for other papers by Zoi Mamasoula in
Google Scholar
PubMed
Close
,
Emily Krantz Department of Internal Medicine and Clinical Nutrition, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden
Department of Respiratory Medicine and Allergology, Sahlgrenska University Hospital, Gothenburg, Sweden

Search for other papers by Emily Krantz in
Google Scholar
PubMed
Close
,
Penelope Trimpou Department of Internal Medicine and Clinical Nutrition, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden
Section for Endocrinology, Department of Medicine, Sahlgrenska University Hospital, Gothenburg, Sweden

Search for other papers by Penelope Trimpou in
Google Scholar
PubMed
Close
,
Kerstin Landin-Wilhelmsen Department of Internal Medicine and Clinical Nutrition, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden
Section for Endocrinology, Department of Medicine, Sahlgrenska University Hospital, Gothenburg, Sweden

Search for other papers by Kerstin Landin-Wilhelmsen in
Google Scholar
PubMed
Close
, and
Christine M Laine Department of Internal Medicine and Clinical Nutrition, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden
Endocrine Out-Patient Clinic, Carlanderska Hospital, Gothenburg, Sweden

Search for other papers by Christine M Laine in
Google Scholar
PubMed
Close

Objective

Hypoparathyroidism (HypoPT) is a rare endocrine disorder in which insufficient levels of parathyroid hormone (PTH) lead to low serum calcium (S-Ca) levels and muscular cramps. The aim was to study the health-related quality of life (HRQoL) and comorbidities in patients with HypoPT compared with the general population and to estimate the need of treatment with PTH analog.

Design

Patients with HypoPT were identified and compared with a population sample. Short Form-36 (SF-36) and EuroQol-5 Dimensions Visual Analogue Scale questionnaires were used. All patients were followed up at the Sahlgrenska University Hospital outpatient clinic.

Methods

From the medical records between 2007 and 2020, 203 patients with HypoPT were identified and compared with a population sample (n = 414) from the World Health Organization’s (WHO) MONICA project, Gothenburg, Sweden. Of the 203 patients who met the diagnostic criteria, 164 were alive and 65% answered the HRQoL questionnaires.

Results

Patients with HypoPT, 80% postsurgical, and controls had similar age (60 years) and sex distribution (80% women). Patients had lower SF-36 summary component scores for physical (40.0 (interquartile range (IQR): 21) vs 51.2 (IQR: 14.6); P < 0.001) and mental (43.1 (IQR:17.4) vs 56.1(IQR:13.3); P < 0.001) well-being, irrespective of etiology or calcium levels. Individuals with HypoPT had more medications and lower renal function but not higher mortality than controls. Low HRQoL together with low calcium was present in 23% of individuals with HypoPT.

Conclusion

HRQoL was markedly lower in patients with HypoPT than in controls and independent of S-Ca levels. Treatment with PTH analog could be considered at least among patients with both low HRQoL and low calcium levels.

Open access
Anouar Aznou Department of Internal Medicine, Amsterdam University Medical Centers, MB Amsterdam, the Netherlands

Search for other papers by Anouar Aznou in
Google Scholar
PubMed
Close
,
Rick Meijer Department of Internal Medicine, Amsterdam University Medical Centers, MB Amsterdam, the Netherlands

Search for other papers by Rick Meijer in
Google Scholar
PubMed
Close
,
Daniel van Raalte Department of Internal Medicine, Amsterdam University Medical Centers, MB Amsterdam, the Netherlands

Search for other papers by Daniel van Raalte in
Google Scholar
PubMed
Close
,
Martin den Heijer Department of Internal Medicine, Amsterdam University Medical Centers, MB Amsterdam, the Netherlands

Search for other papers by Martin den Heijer in
Google Scholar
PubMed
Close
,
Annemieke Heijboer Endocrine Laboratory, Department of Clinical Chemistry, Amsterdam University Medical Centers, MB Amsterdam, the Netherlands

Search for other papers by Annemieke Heijboer in
Google Scholar
PubMed
Close
, and
Renate de Jongh Department of Internal Medicine, Amsterdam University Medical Centers, MB Amsterdam, the Netherlands

Search for other papers by Renate de Jongh in
Google Scholar
PubMed
Close

Objective

The mechanisms underlying the development of peripheral insulin resistance are complex. Several studies have linked sclerostin, an osteocyte-derived inhibitor of the Wnt/β-catenin pathway, to obesity and insulin resistance. The aim of this study was to investigate (1) whether serum sclerostin is associated with insulin sensitivity in lean and/or obese women; and (2) whether hyperinsulinaemia affects serum sclerostin concentrations.

Design

A cross-sectional study.

Methods

Insulin sensitivity was measured in lean (BMI < 25 kg/m2) and obese (BMI > 30 kg/m2) women using a hyperinsulinaemic–euglycaemic clamp. Serum sclerostin was measured at baseline and during the clamp procedure.

Results

We studied 21 lean and 22 obese women with a median age of 40 and 43 years and a median BMI of 22.4 and 33.5 kg/m2, respectively. Obese women had higher serum sclerostin than lean women (122 ± 33 vs 93 ± 33 nmol/L, P < 0.01). Higher serum sclerostin was associated with lower insulin sensitivity in obese, but not in lean individuals (difference in M-value between highest and lowest quartile: −7.02 mg/kg/min, P = 0.03 and 1.59 mg/kg/min, P = 0.50, respectively). Hyperinsulinaemia did not affect serum sclerostin in lean nor obese women (P > 0.5).

Conclusion

Serum sclerostin is negatively associated with insulin sensitivity as measured with the hyperinsulinaemic–euglycaemic clamp in obese, but not lean women. This indicates a potential role of the Wnt/β-catenin pathway in regulating insulin sensitivity particularly in obese individuals. Our findings remain hypothesis-generating and should be confirmed by additional studies.

Open access
Franca Genest Clinical Trial Unit, Orthopedic Department, University of Wuerzburg, Wuerzburg, Germany

Search for other papers by Franca Genest in
Google Scholar
PubMed
Close
,
Michael Schneider Clinical Trial Unit, Orthopedic Department, University of Wuerzburg, Wuerzburg, Germany

Search for other papers by Michael Schneider in
Google Scholar
PubMed
Close
,
Andreas Zehnder Clinical Trial Unit, Orthopedic Department, University of Wuerzburg, Wuerzburg, Germany

Search for other papers by Andreas Zehnder in
Google Scholar
PubMed
Close
,
Dominik Lieberoth-Leden Clinical Trial Unit, Orthopedic Department, University of Wuerzburg, Wuerzburg, Germany

Search for other papers by Dominik Lieberoth-Leden in
Google Scholar
PubMed
Close
, and
Lothar Seefried Clinical Trial Unit, Orthopedic Department, University of Wuerzburg, Wuerzburg, Germany

Search for other papers by Lothar Seefried in
Google Scholar
PubMed
Close

Purpose

Aging and concurrent constitutional changes as sarcopenia, osteoporosis and obesity are associated with progressive functional decline. Coincidence and mutual interference of this risk factors require further evaluation.

Methods

Cross-sectional evaluation of musculoskeletal health in a community-dwelling cohort of men aged 65–90 years. Objectives included descriptive analysis of age-related decline in physical performance, prevalence of osteoporosis (FRAX-Score), sarcopenia (EWGSOP criteria) and obesity (BMI > 30 kg/m2) and their coincidence/interference.

Results

Based on 507 participants assessed, aging was associated with progressive functional deterioration, regarding power (chair rise test −1.54% per year), performance (usual gait speed −1.38% per year) and muscle force (grip strength −1.52% per year) while muscle mass declined only marginally (skeletal muscle index −0.29% per year). Prevalence of osteoporosis was 41.8% (n = 212) while only 22.9% (n = 116) of the participants met the criteria for sarcopenia and 23.7% (n = 120) were obese. Osteosarcopenia was found in n = 79 (15.6%), sarcopenic obesity was present in 14 men (2.8%). A combination of all three conditions could be confirmed in n = 8 (1.6%). There was an inverse correlation of BMI with physical performance whereas osteoporosis and sarcopenia did not interfere with functional outcomes.

Conclusion

Based on current definitions, there is considerable overlap in the prevalence of osteoporosis and sarcopenia, while obesity appears to be a distinct problem. Functional decline appears to be associated with obesity rather than osteoporosis or sarcopenia. It remains to be determined to what extend obesity itself causes performance deficits or if obesity is merely an indicator of insufficient activity eventually predisposing to functional decline.

Open access
Tingting Jia Department of Implantology, School of Stomatology, Shandong University, Jinan, People’s Republic of China
Shandong Provincial Key Laboratory of Oral Tissue Regeneration, Jinan, People’s Republic of China

Search for other papers by Tingting Jia in
Google Scholar
PubMed
Close
,
Ya-nan Wang Department of Implantology, School of Stomatology, Shandong University, Jinan, People’s Republic of China
Shandong Provincial Key Laboratory of Oral Tissue Regeneration, Jinan, People’s Republic of China

Search for other papers by Ya-nan Wang in
Google Scholar
PubMed
Close
,
Dongjiao Zhang Department of Implantology, School of Stomatology, Shandong University, Jinan, People’s Republic of China
Shandong Provincial Key Laboratory of Oral Tissue Regeneration, Jinan, People’s Republic of China

Search for other papers by Dongjiao Zhang in
Google Scholar
PubMed
Close
, and
Xin Xu Department of Implantology, School of Stomatology, Shandong University, Jinan, People’s Republic of China
Shandong Provincial Key Laboratory of Oral Tissue Regeneration, Jinan, People’s Republic of China

Search for other papers by Xin Xu in
Google Scholar
PubMed
Close

Diabetes-induced advanced glycation end products (AGEs) overproduction would result in compromised osseointegration of titanium implant and high rate of implantation failure. 1α,25-dihydroxyvitamin D3 (1,25VD3) plays a vital role in osteogenesis, whereas its effects on the osseointegration and the underlying mechanism are unclear. The purpose of this study was to investigate that 1,25VD3 might promote the defensive ability of osseointegration through suppressing AGEs/RAGE in type 2 diabetes mellitus. In animal study, streptozotocin-induced diabetic rats accepted implant surgery, with or without 1,25VD3 intervention for 12 weeks. After killing, the serum AGEs level, bone microarchitecture and biomechanical index of rats were measured systematically. In vitro study, osteoblasts differentiation capacity was analyzed by alizarin red staining, alkaline phosphatase assay and Western blotting, after treatment with BSA, AGEs, AGEs with RAGE inhibitor and AGEs with 1,25VD3. And the expression of RAGE protein was detected to explore the mechanism. Results showed that 1,25VD3 could reverse the impaired osseointegration and mechanical strength, which possibly resulted from the increased AGEs. Moreover, 1,25VD3 could ameliorate AGEs-induced damage of cell osteogenic differentiation, as well as downregulating the RAGE expression. These data may provide a theoretical basis that 1,25VD3 could work as an adjuvant treatment against poor osseointegration in patients with type 2 diabetes mellitus.

Open access
Lijuan Yuan Department of Biochemistry and Molecular Biology, Center for DNA Typing, Air Force Medical University, Xi’an, Shaanxi, People’s Republic of China
Department of General Surgery, Tangdu Hospital, Air Force Medical University, Xi’an, Shaanxi, People’s Republic of China

Search for other papers by Lijuan Yuan in
Google Scholar
PubMed
Close
,
Xihui Chen Department of Biochemistry and Molecular Biology, Center for DNA Typing, Air Force Medical University, Xi’an, Shaanxi, People’s Republic of China

Search for other papers by Xihui Chen in
Google Scholar
PubMed
Close
,
Ziyu Liu Department of Microbiology, Air Force Medical University, Xi’an, Shaanxi, People’s Republic of China

Search for other papers by Ziyu Liu in
Google Scholar
PubMed
Close
,
Dan Wu Department of Biochemistry and Molecular Biology, Center for DNA Typing, Air Force Medical University, Xi’an, Shaanxi, People’s Republic of China

Search for other papers by Dan Wu in
Google Scholar
PubMed
Close
,
Jianguo Lu Department of General Surgery, Tangdu Hospital, Air Force Medical University, Xi’an, Shaanxi, People’s Republic of China

Search for other papers by Jianguo Lu in
Google Scholar
PubMed
Close
,
Guoqiang Bao Department of General Surgery, Tangdu Hospital, Air Force Medical University, Xi’an, Shaanxi, People’s Republic of China

Search for other papers by Guoqiang Bao in
Google Scholar
PubMed
Close
,
Sijia Zhang Department of Biochemistry and Molecular Biology, Center for DNA Typing, Air Force Medical University, Xi’an, Shaanxi, People’s Republic of China

Search for other papers by Sijia Zhang in
Google Scholar
PubMed
Close
,
Lifeng Wang Department of Biochemistry and Molecular Biology, Air Force Medical University, Xi’an, Shaanxi, People’s Republic of China

Search for other papers by Lifeng Wang in
Google Scholar
PubMed
Close
, and
Yuanming Wu Department of Biochemistry and Molecular Biology, Center for DNA Typing, Air Force Medical University, Xi’an, Shaanxi, People’s Republic of China

Search for other papers by Yuanming Wu in
Google Scholar
PubMed
Close

Primary hypertrophic osteoarthropathy (PHO) is a rare familial disorder with reduced penetrance for females. The genetic mutations associated with PHO have been identified in HPGD and SLCO2A1, which involved in prostaglandin E2 metabolism. Here, we report 5 PHO patients from four non-consanguineous families. Two heterozygous mutations in solute carrier organic anion transporter family member 2A1 (SLCO2A1) were identified in two brothers by whole-exome sequencing. Three heterozygous mutations and one homozygous mutation were identified in other three PHO families by Sanger sequencing. However, there was no mutation in HPGD. These findings confirmed that homozygous or compound heterozygous mutations of SLCO2A1 were the pathogenic cause of PHO. A female individual shared the same mutations in SLCO2A1 with her PHO brother but did not have any typical PHO symptoms. The influence of sex hormones on the pathogenesis of PHO and its implication were discussed.

Open access
Kaisu Luiro Department of Obstetrics and Gynecology, Reproductive Medicine Unit, Helsinki University Hospital and University of Helsinki, Helsinki, Finland

Search for other papers by Kaisu Luiro in
Google Scholar
PubMed
Close
,
Kristiina Aittomäki Department of Medical Genetics, Helsinki University Hospital, Helsinki, Finland

Search for other papers by Kristiina Aittomäki in
Google Scholar
PubMed
Close
,
Pekka Jousilahti Department of Public Health Solutions, National Institute for Health and Welfare, Helsinki, Finland

Search for other papers by Pekka Jousilahti in
Google Scholar
PubMed
Close
, and
Juha S Tapanainen Department of Obstetrics and Gynecology, Reproductive Medicine Unit, Helsinki University Hospital and University of Helsinki, Helsinki, Finland
Department of Obstetrics and Gynecology, University of Oulu and Oulu University Hospital, Medical Research Center, PEDEGO Research Unit, Oulu, Finland

Search for other papers by Juha S Tapanainen in
Google Scholar
PubMed
Close

Objective

To study the use of hormone therapy (HT), morbidity and reproductive outcomes of women with primary ovarian insufficiency (POI) due to FSH-resistant ovaries (FSHRO).

Design

A prospective follow-up study in a university-based tertiary clinic setting.

Methods

Twenty-six women with an inactivating A189V FSH receptor mutation were investigated by means of a health questionnaire and clinical examination. Twenty-two returned the health questionnaire and 14 were clinically examined. Main outcome measures in the health questionnaire were reported as HT, morbidity, medication and infertility treatment outcomes. In the clinical study, risk factors for cardiovascular disease (CVD) and metabolic syndrome (MetS) were compared to age-matched controls from a national population survey (FINRISK). Average number of controls was 326 per FSHRO subject (range 178–430). Bone mineral density and whole-body composition were analyzed with DXA. Psychological and sexual well-being was assessed with Beck Depression Inventory (BDI21), Generalized Anxiety Disorder 7 (GAD-7) and Female Sexual Function Index (FSFI) questionnaires.

Results

HT was initiated late (median 18 years of age) compared with normal puberty and the median time of use was shorter (20–22 years) than the normal fertile period. Osteopenia was detected in 9/14 of the FSHRO women despite HT. No major risk factors for CVD or diabetes were found.

Conclusions

HT of 20 years seems to be associated with a similar cardiovascular and metabolic risk factor profile as in the population control group. However, optimal bone health may require an early-onset and longer period of HT, which would better correspond to the natural fertile period.

Open access
Ravikumar Shah Department of Endocrinology, Seth GS Medical College & KEM Hospital, Parel, Mumbai, India

Search for other papers by Ravikumar Shah in
Google Scholar
PubMed
Close
,
Anurag R Lila Department of Endocrinology, Seth GS Medical College & KEM Hospital, Parel, Mumbai, India

Search for other papers by Anurag R Lila in
Google Scholar
PubMed
Close
,
Ramteke-Swati Jadhav Department of Endocrinology, Seth GS Medical College & KEM Hospital, Parel, Mumbai, India

Search for other papers by Ramteke-Swati Jadhav in
Google Scholar
PubMed
Close
,
Virendra Patil Department of Endocrinology, Seth GS Medical College & KEM Hospital, Parel, Mumbai, India

Search for other papers by Virendra Patil in
Google Scholar
PubMed
Close
,
Abhishek Mahajan Department of Radiodiagnosis and Imaging, Tata Memorial Hospital, Mumbai, Maharashtra, India

Search for other papers by Abhishek Mahajan in
Google Scholar
PubMed
Close
,
Sushil Sonawane Department of Endocrinology, Seth GS Medical College & KEM Hospital, Parel, Mumbai, India

Search for other papers by Sushil Sonawane in
Google Scholar
PubMed
Close
,
Puja Thadani Department of Endocrinology, Seth GS Medical College & KEM Hospital, Parel, Mumbai, India

Search for other papers by Puja Thadani in
Google Scholar
PubMed
Close
,
Anil Dcruz Department of Head Neck Surgery, Tata Memorial Hospital, Mumbai, Maharashtra, India

Search for other papers by Anil Dcruz in
Google Scholar
PubMed
Close
,
Prathamesh Pai Department of Head Neck Surgery, Tata Memorial Hospital, Mumbai, Maharashtra, India

Search for other papers by Prathamesh Pai in
Google Scholar
PubMed
Close
,
Munita Bal Department of Pathology, Tata Memorial Hospital, Mumbai, Maharashtra, India

Search for other papers by Munita Bal in
Google Scholar
PubMed
Close
,
Subhada Kane Department of Pathology, Tata Memorial Hospital, Mumbai, Maharashtra, India

Search for other papers by Subhada Kane in
Google Scholar
PubMed
Close
,
Nalini Shah Department of Endocrinology, Seth GS Medical College & KEM Hospital, Parel, Mumbai, India

Search for other papers by Nalini Shah in
Google Scholar
PubMed
Close
, and
Tushar Bandgar Department of Endocrinology, Seth GS Medical College & KEM Hospital, Parel, Mumbai, India

Search for other papers by Tushar Bandgar in
Google Scholar
PubMed
Close

Tumor-induced osteomalacia in the head and neck region remains a challenging diagnosis to manage. Literature pertaining to management and outcome details remains sparse. We describe two cohorts: cohort 1 included seven patients from a single center in Western India with tumors located in paranasal sinuses (n = 3), intracranial (n = 2) and maxilla (n = 2). The unique features from our series is the management of persistent disease with radiation therapy (n = 2) and peptide receptor radionuclide therapy (PRRT) (n = 1). Cohort two has 163 patients identified from 109 publications for systematic review. Paranasal sinuses, mandible, intracranial disease, maxilla and oral cavity, in descending order, are reportedly common tumor sites. Within this cohort, mean age was 46 ± 14 years at presentation with 44.1% having local symptoms. Duration of symptoms varied from 1 to 240 months. Pre-surgery mean serum phosphorus was 1.4 ± 0.4 mg/dL and median FGF-23 levels were 3.6 (IQR:1.8–6.8) times of normal upper limit of normal. Majority (97.5%) were managed primarily with surgical excision; however, primary radiotherapy (n = 2) and surgery combined with radiotherapy (n = 2) were also reported. Twenty patients had persistent disease while nine patients had recurrence, more commonly noted with intracranial and oral cavity tumors. Surgery was the most common second mode of treatment employed succeeded by radiotherapy. Four patients had metastatic disease. The most common histopathological diagnosis reported is PMT mixed connective tissue, while the newer terminology ‘PMT mixed epithelial and connective tissue type’ has been described in 15 patients.

Open access
Stephen A Martin Skeletal Biology Laboratory, School of Biological and Population Health Sciences, Oregon State University, Corvallis, Oregon, USA

Search for other papers by Stephen A Martin in
Google Scholar
PubMed
Close
,
Kenneth A Philbrick Skeletal Biology Laboratory, School of Biological and Population Health Sciences, Oregon State University, Corvallis, Oregon, USA

Search for other papers by Kenneth A Philbrick in
Google Scholar
PubMed
Close
,
Carmen P Wong Skeletal Biology Laboratory, School of Biological and Population Health Sciences, Oregon State University, Corvallis, Oregon, USA

Search for other papers by Carmen P Wong in
Google Scholar
PubMed
Close
,
Dawn A Olson Skeletal Biology Laboratory, School of Biological and Population Health Sciences, Oregon State University, Corvallis, Oregon, USA

Search for other papers by Dawn A Olson in
Google Scholar
PubMed
Close
,
Adam J Branscum Biostatistics Program, School of Biological and Population Health Sciences, Oregon State University, Corvallis, Oregon, USA

Search for other papers by Adam J Branscum in
Google Scholar
PubMed
Close
,
Donald B Jump Molecular Nutrition and Diabetes Research Laboratory, School of Biological and Population Health Sciences, Oregon State University, Corvallis, Oregon, USA

Search for other papers by Donald B Jump in
Google Scholar
PubMed
Close
,
Charles K Marik Skeletal Biology Laboratory, School of Biological and Population Health Sciences, Oregon State University, Corvallis, Oregon, USA

Search for other papers by Charles K Marik in
Google Scholar
PubMed
Close
,
Jonathan M DenHerder Carlson College of Veterinary Medicine, Oregon State University, Corvallis, Oregon, USA

Search for other papers by Jonathan M DenHerder in
Google Scholar
PubMed
Close
,
Jennifer L Sargent Carlson College of Veterinary Medicine, Oregon State University, Corvallis, Oregon, USA

Search for other papers by Jennifer L Sargent in
Google Scholar
PubMed
Close
,
Russell T Turner Skeletal Biology Laboratory, School of Biological and Population Health Sciences, Oregon State University, Corvallis, Oregon, USA
Center for Healthy Aging Research, Oregon State University, Corvallis, Oregon, USA

Search for other papers by Russell T Turner in
Google Scholar
PubMed
Close
, and
Urszula T Iwaniec Skeletal Biology Laboratory, School of Biological and Population Health Sciences, Oregon State University, Corvallis, Oregon, USA
Center for Healthy Aging Research, Oregon State University, Corvallis, Oregon, USA

Search for other papers by Urszula T Iwaniec in
Google Scholar
PubMed
Close

Mice are a commonly used model to investigate aging-related bone loss but, in contrast to humans, mice exhibit cancellous bone loss prior to skeletal maturity. The mechanisms mediating premature bone loss are not well established. However, our previous work in female mice suggests housing temperature is a critical factor. Premature cancellous bone loss was prevented in female C57BL/6J mice by housing the animals at thermoneutral temperature (where basal rate of energy production is at equilibrium with heat loss). In the present study, we determined if the protective effects of thermoneutral housing extend to males. Male C57BL/6J mice were housed at standard room temperature (22°C) or thermoneutral (32°C) conditions from 5 (rapidly growing) to 16 (slowly growing) weeks of age. Mice housed at room temperature exhibited reductions in cancellous bone volume fraction in distal femur metaphysis and fifth lumbar vertebra; these effects were abolished at thermoneutral conditions. Mice housed at thermoneutral temperature had higher levels of bone formation in distal femur (based on histomorphometry) and globally (serum osteocalcin), and lower global levels of bone resorption (serum C-terminal telopeptide of type I collagen) compared to mice housed at room temperature. Thermoneutral housing had no impact on bone marrow adiposity but resulted in higher abdominal white adipose tissue and serum leptin. The overall magnitude of room temperature housing-induced cancellous bone loss did not differ between male (current study) and female (published data) mice. These findings highlight housing temperature as a critical experimental variable in studies using mice of either sex to investigate aging-related changes in bone metabolism.

Open access
Elin Kahlert Clinic of Gastroenterology and Endocrinology, University Medical Center Goettingen, Goettingen, Germany

Search for other papers by Elin Kahlert in
Google Scholar
PubMed
Close
,
Martina Blaschke Clinic of Gastroenterology and Endocrinology, University Medical Center Goettingen, Goettingen, Germany
Endokrinologikum Goettingen, Goettingen, Germany

Search for other papers by Martina Blaschke in
Google Scholar
PubMed
Close
,
Knut Brockmann Interdisciplinary Pediatric Center for Children with Developmental Disabilities and Severe Chronic Disorders, University Medical Center Goettingen, Goettingen, Germany

Search for other papers by Knut Brockmann in
Google Scholar
PubMed
Close
,
Clemens Freiberg Interdisciplinary Pediatric Center for Children with Developmental Disabilities and Severe Chronic Disorders, University Medical Center Goettingen, Goettingen, Germany

Search for other papers by Clemens Freiberg in
Google Scholar
PubMed
Close
,
Onno E Janssen Endokrinologikum Hamburg, Hamburg, Germany

Search for other papers by Onno E Janssen in
Google Scholar
PubMed
Close
,
Nikolaus Stahnke Endokrinologikum Hamburg, Hamburg, Germany

Search for other papers by Nikolaus Stahnke in
Google Scholar
PubMed
Close
,
Domenika Strik Endokrinologikum Berlin, Berlin, Germany

Search for other papers by Domenika Strik in
Google Scholar
PubMed
Close
,
Martin Merkel Endokrinologikum Hannover, Hannover, Germany

Search for other papers by Martin Merkel in
Google Scholar
PubMed
Close
,
Alexander Mann Endokrinologikum Frankfurt, Frankfurt/Main, Germany

Search for other papers by Alexander Mann in
Google Scholar
PubMed
Close
,
Klaus-Peter Liesenkötter Endokrinologikum Berlin, Berlin, Germany

Search for other papers by Klaus-Peter Liesenkötter in
Google Scholar
PubMed
Close
, and
Heide Siggelkow Clinic of Gastroenterology and Endocrinology, University Medical Center Goettingen, Goettingen, Germany
Endokrinologikum Goettingen, Goettingen, Germany

Search for other papers by Heide Siggelkow in
Google Scholar
PubMed
Close

Objective

Turner syndrome (TS) is characterized by the complete or partial loss of the second sex chromosome and associated with a wide range of clinical manifestations. We aimed to assess the medical care of adult patients with TS in Germany.

Design

Retrospective multicenter observational study.

Methods

Data were collected from medical records of 258 women with TS treated between 2001 and 2017 in five non-university endocrinologic centers in Germany.

Results

Mean age was 29.8 ± 11.6 years, mean height 152 ± 7.7 cm, and mean BMI 26.6 ± 6.3 kg/m2. The karyotype was known in 50% of patients. Information on cholesterol state, liver enzymes, and thyroid status was available in 81–98% of women with TS; autoimmune thyroiditis was diagnosed in 37%. Echocardiography was performed in 42% and cardiac MRI in 8.5%, resulting in a diagnosis of cardiovascular disorder in 28%. Data on growth hormone therapy were available for 40 patients (15%) and data concerning menarche in 157 patients (61%).

Conclusion

In 258 women with TS, retrospective analysis of healthcare data indicated that medical management was focused on endocrine manifestations. Further significant clinical features including cardiovascular disease, renal malformation, liver involvement, autoimmune diseases, hearing loss, and osteoporosis were only marginally if at all considered. Based on this evaluation and in accordance with recent guidelines, we compiled a documentation form facilitating the transition from pediatric to adult care and further medical management of TS patients. The foundation of Turner Centers in March 2019 will improve the treatment of TS women in Germany.

Open access