Search Results

You are looking at 141 - 150 of 231 items for

  • Abstract: Bone x
  • Abstract: Mineral x
  • Abstract: Calcium x
  • Abstract: Hyperparathyroidism x
  • Abstract: Hypoparathyroidism x
  • Abstract: Menopause x
  • Abstract: Osteo* x
  • Abstract: Skeleton x
  • Abstract: Vitamin D x
Clear All Modify Search
Rui-yi Tang Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Science, Beijing, People’s Republic of China

Search for other papers by Rui-yi Tang in
Google Scholar
PubMed
Close
,
Rong Chen Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Science, Beijing, People’s Republic of China

Search for other papers by Rong Chen in
Google Scholar
PubMed
Close
,
Miao Ma Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Science, Beijing, People’s Republic of China

Search for other papers by Miao Ma in
Google Scholar
PubMed
Close
,
Shou-qing Lin Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Science, Beijing, People’s Republic of China

Search for other papers by Shou-qing Lin in
Google Scholar
PubMed
Close
,
Yi-wen Zhang Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Science, Beijing, People’s Republic of China

Search for other papers by Yi-wen Zhang in
Google Scholar
PubMed
Close
, and
Ya-ping Wang Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Science, Beijing, People’s Republic of China

Search for other papers by Ya-ping Wang in
Google Scholar
PubMed
Close

Objective

To evaluate the clinical features of Chinese women with idiopathic hypogonadotropic hypogonadism (IHH).

Methods

We retrospectively reviewed the clinical characteristics, laboratory and imaging findings, therapeutic management and fertility outcomes of 138 women with IHH. All patients had been treated and followed up at an academic medical centre during 1990–2016.

Results

Among the 138 patients, 82 patients (59.4%) were diagnosed with normosmic IHH and 56 patients (40.6%) were diagnosed with Kallmann syndrome (KS). The patients with IHH experienced occasional menses (4.3%), spontaneous thelarche (45.7%) or spontaneous pubarche (50.7%). Women with thelarche had a higher percentage of pubarche (P< 0.001) and higher gonadotropin concentrations (P< 0.01). Olfactory bulb/sulci abnormalities were found during the magnetic resonance imaging (MRI) of all patients with KS. Most patients with IHH had osteopenia and low bone age. Among the 16 women who received gonadotropin-releasing hormone treatment, ovulation induction or assisted reproductive technology, the clinical pregnancy rate was 81.3% and the live birth rate was 68.8%.

Conclusions

The present study revealed that the phenotypic spectrum of women with IHH is broader than typical primary amenorrhoea with no secondary sexual development, including occasional menses, spontaneous thelarche or pubarche. MRI of the olfactory system can facilitate the diagnosis of KS. Pregnancy can be achieved after receiving appropriate treatment.

Open access
Rimesh Pal Department of Endocrinology, Post Graduate Institute of Medical Education and Research, Chandigarh, India

Search for other papers by Rimesh Pal in
Google Scholar
PubMed
Close
,
Sanjay Kumar Bhadada Department of Endocrinology, Post Graduate Institute of Medical Education and Research, Chandigarh, India

Search for other papers by Sanjay Kumar Bhadada in
Google Scholar
PubMed
Close
,
Awesh Singhare Department of Endocrinology, P D Hinduja Hospital and Medical Research Centre, Mumbai, India

Search for other papers by Awesh Singhare in
Google Scholar
PubMed
Close
,
Anil Bhansali Department of Endocrinology, Post Graduate Institute of Medical Education and Research, Chandigarh, India

Search for other papers by Anil Bhansali in
Google Scholar
PubMed
Close
,
Sadishkumar Kamalanathan Department of Endocrinology, Jawaharlal Institute of Post Graduate Medical Education and Research, Pondicherry, India

Search for other papers by Sadishkumar Kamalanathan in
Google Scholar
PubMed
Close
,
Manoj Chadha Department of Endocrinology, P D Hinduja Hospital and Medical Research Centre, Mumbai, India

Search for other papers by Manoj Chadha in
Google Scholar
PubMed
Close
,
Phulrenu Chauhan Department of Endocrinology, P D Hinduja Hospital and Medical Research Centre, Mumbai, India

Search for other papers by Phulrenu Chauhan in
Google Scholar
PubMed
Close
,
Ashwani Sood Department of Nuclear Medicine, Post Graduate Institute of Medical Education and Research, Chandigarh, India

Search for other papers by Ashwani Sood in
Google Scholar
PubMed
Close
,
Vandana Dhiman Department of Endocrinology, Post Graduate Institute of Medical Education and Research, Chandigarh, India

Search for other papers by Vandana Dhiman in
Google Scholar
PubMed
Close
,
Dinesh Chandra Sharma Division of Endocrinology, Rabindranath Tagore Medical College, Udaipur, India

Search for other papers by Dinesh Chandra Sharma in
Google Scholar
PubMed
Close
,
Uma Nahar Saikia Department of Histopathology, Post Graduate Institute of Medical Education and Research, Chandigarh, India

Search for other papers by Uma Nahar Saikia in
Google Scholar
PubMed
Close
,
Debajyoti Chatterjee Department of Histopathology, Post Graduate Institute of Medical Education and Research, Chandigarh, India

Search for other papers by Debajyoti Chatterjee in
Google Scholar
PubMed
Close
, and
Vikas Agashe Department of Orthopaedics, P D Hinduja Hospital and Medical Research Centre, Mumbai, India

Search for other papers by Vikas Agashe in
Google Scholar
PubMed
Close

Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome characterized by recalcitrant hypophosphatemia. Reports from the Indian subcontinent are scarce, with most being single center experiences involving few patients. Herein, we conducted a retrospective analysis of 30 patients of TIO diagnosed at three tertiary care hospitals in India. Patients with persistent hypophosphatemia (despite correction of hypovitaminosis D), normocalcemia, elevated alkaline phosphatase, low TmP/GFR and elevated or ‘inappropriately normal’ FGF23 levels were labeled as having TIO. They were sequentially subjected to functional followed by anatomical imaging. Patients with a well-localized tumor underwent excision; others were put on phosphorous and calcitriol supplementation. The mean age at presentation was 39.6 years with female:male ratio of 3:2. Bone pain (83.3%) and proximal myopathy (70%) were the chief complaints; 40% of cases had fractures. The mean delay in diagnosis was 3.8 years. Tumors were clinically detectable in four patients (13.3%). The mean serum phosphate was 0.50 mmol/L with a median serum FGF23 level of 518 RU/mL. Somatostatin receptor-based scintigraphy was found to be superior to FDG-PET in tumor localization. Lower extremities were the most common site of the tumor (72%). Tumor size was positively correlated with serum FGF23 levels. Twenty-two patients underwent tumor resection and 16 of them had phosphaturic mesenchymal tumors. Surgical excision led to cure in 72.7% of patients whereas disease persistence and disease recurrence were seen in 18.2% and 9.1% of cases, respectively. At the last follow-up, serum phosphate in the surgically treated group was significantly higher than in the medically managed group.

Open access
Eeva M Ryhänen
Search for other papers by Eeva M Ryhänen in
Google Scholar
PubMed
Close
,
Ilkka Heiskanen
Search for other papers by Ilkka Heiskanen in
Google Scholar
PubMed
Close
,
Harri Sintonen Endocrinology, Department of Public Health, Group Administration, Helsinki University Hospital, University of Eastern Finland, Abdominal Center, University of Helsinki and Helsinki University Hospital, Post Box 340, FI-00290 Helsinki, Finland

Search for other papers by Harri Sintonen in
Google Scholar
PubMed
Close
,
Matti J Välimäki
Search for other papers by Matti J Välimäki in
Google Scholar
PubMed
Close
,
Risto P Roine Endocrinology, Department of Public Health, Group Administration, Helsinki University Hospital, University of Eastern Finland, Abdominal Center, University of Helsinki and Helsinki University Hospital, Post Box 340, FI-00290 Helsinki, Finland
Endocrinology, Department of Public Health, Group Administration, Helsinki University Hospital, University of Eastern Finland, Abdominal Center, University of Helsinki and Helsinki University Hospital, Post Box 340, FI-00290 Helsinki, Finland
Endocrinology, Department of Public Health, Group Administration, Helsinki University Hospital, University of Eastern Finland, Abdominal Center, University of Helsinki and Helsinki University Hospital, Post Box 340, FI-00290 Helsinki, Finland

Search for other papers by Risto P Roine in
Google Scholar
PubMed
Close
, and
Camilla Schalin-Jäntti
Search for other papers by Camilla Schalin-Jäntti in
Google Scholar
PubMed
Close

Health-related quality of life (HRQoL) is frequently impaired in primary hyperparathyroidism (PHPT) but it is unclear if surgery is beneficial. The objective was to prospectively assess HRQoL in PHPT (n=124) with the 15D instrument before and after surgery, to compare it with that of a comparable sample of the general population (n=4295), and search for predictors of HRQoL and its change. HRQoL, and clinical and laboratory parameters were measured before and at 6 and 12 months after surgery. Regression techniques were used to search for predictors of HRQoL and gains from treatment. Before surgery, PHPT patients had significantly lower mean 15D score compared to controls (0.813 vs 0.904, P<0.001). Excretion, mental function, discomfort and symptoms, distress, depression, vitality, and sexual activity were most impaired (all P<0.001). Number of medications (P=0.001) and subjective symptoms (P<0.05) but not calcium or parathyroid hormone (PTH) predicted impaired HRQoL. Serum 25-hydroxyvitamin D (25OHD) was of borderline significance (P=0.051). Compared to baseline, mean 15D score improved significantly 6 months after surgery (0.813 vs 0.865, P<0.001) and the effect sustained at 1 year (0.878, P<0.001). The improvement was clinically important in 77.4% of patients (P<0.001). Educational level independently predicted improvement (P<0.005). HRQoL is severely impaired in PHPT but improves significantly after surgery. The 15D is a sensitive tool for assessing HRQoL and recognizing patients likely to benefit from surgery.

Open access
Sara Lomelino Pinheiro Serviço de Endocrinologia, Instituto Português de Oncologia de Lisboa Francisco Gentil, Lisboa, Portugal

Search for other papers by Sara Lomelino Pinheiro in
Google Scholar
PubMed
Close
,
Ana Saramago Unidade de Investigação em Patobiologia Molecular, Instituto Português de Oncologia de Lisboa Francisco Gentil, Lisboa, Portugal

Search for other papers by Ana Saramago in
Google Scholar
PubMed
Close
,
Branca Maria Cavaco Unidade de Investigação em Patobiologia Molecular, Instituto Português de Oncologia de Lisboa Francisco Gentil, Lisboa, Portugal

Search for other papers by Branca Maria Cavaco in
Google Scholar
PubMed
Close
,
Carmo Martins Unidade de Investigação em Patobiologia Molecular, Instituto Português de Oncologia de Lisboa Francisco Gentil, Lisboa, Portugal

Search for other papers by Carmo Martins in
Google Scholar
PubMed
Close
,
Valeriano Leite Serviço de Endocrinologia e Unidade de Investigação em Patobiologia Molecular, Instituto Português de Oncologia de Lisboa Francisco Gentil, Lisboa, Portugal

Search for other papers by Valeriano Leite in
Google Scholar
PubMed
Close
, and
Tiago Nunes da Silva Serviço de Endocrinologia e Unidade de Investigação em Patobiologia Molecular, Instituto Português de Oncologia de Lisboa Francisco Gentil, Lisboa, Portugal

Search for other papers by Tiago Nunes da Silva in
Google Scholar
PubMed
Close

Nineteen cases of parathyroid carcinoma in patients with multiple endocrine neoplasia type 1 have been reported in the literature, of which 11 carry an inactivating germline mutation in the MEN1 gene. Somatic genetic abnormalities in these parathyroid carcinomas have never been detected. In this paper, we aimed to describe the clinical and molecular characterization of a parathyroid carcinoma identified in a patient with MEN1. A 60-year-old man was diagnosed with primary hyperparathyroidism during the postoperative period of lung carcinoid surgery. Serum calcium and parathyroid hormone levels were 15.0 mg/dL (8.4–10.2) and 472 pg/mL (12–65), respectively. The patient underwent parathyroid surgery, and histological findings were consistent with parathyroid carcinoma. Analysis of the MEN1 gene by next-generation sequencing (NGS) identified a novel germline heterozygous nonsense pathogenic variant (c.978C>A; p.(Tyr326*)), predicted to encode a truncated protein. Genetic analysis of the parathyroid carcinoma revealed a c.307del, p.(Leu103Cysfs*16) frameshift truncating somatic MEN1 variant in the MEN1 gene, which is consistent with MEN1 tumor-suppressor role, confirming its involvement in parathyroid carcinoma etiology. Genetic analysis of CDC73, GCM2, TP53, RB1, AKT1, MTOR, PIK3CA and CCND1 genes in the parathyroid carcinoma DNA did not detect any somatic mutations. To our knowledge, this is the first report of a PC case presenting both germline (first-hit) and somatic (second-hit) inactivation of the MEN1 gene.

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
Bekir Cakir Department of Endocrinology and Metabolism, Faculty of Medicine, Ankara Yildirim Beyazit University, Ankara, Turkey

Search for other papers by Bekir Cakir in
Google Scholar
PubMed
Close
,
F Neslihan Cuhaci Seyrek Department of Endocrinology and Metabolism, Faculty of Medicine, Ankara Yildirim Beyazit University, Ankara, Turkey

Search for other papers by F Neslihan Cuhaci Seyrek in
Google Scholar
PubMed
Close
,
Oya Topaloglu Department of Endocrinology and Metabolism, Faculty of Medicine, Ankara Yildirim Beyazit University, Ankara, Turkey

Search for other papers by Oya Topaloglu in
Google Scholar
PubMed
Close
,
Didem Ozdemir Department of Endocrinology and Metabolism, Faculty of Medicine, Ankara Yildirim Beyazit University, Ankara, Turkey

Search for other papers by Didem Ozdemir in
Google Scholar
PubMed
Close
,
Ahmet Dirikoc Department of Endocrinology and Metabolism, Faculty of Medicine, Ankara Yildirim Beyazit University, Ankara, Turkey

Search for other papers by Ahmet Dirikoc in
Google Scholar
PubMed
Close
,
Cevdet Aydin Department of Endocrinology and Metabolism, Faculty of Medicine, Ankara Yildirim Beyazit University, Ankara, Turkey

Search for other papers by Cevdet Aydin in
Google Scholar
PubMed
Close
,
Sefika Burcak Polat Department of Endocrinology and Metabolism, Faculty of Medicine, Ankara Yildirim Beyazit University, Ankara, Turkey

Search for other papers by Sefika Burcak Polat in
Google Scholar
PubMed
Close
,
Berna Evranos Ogmen Department of Endocrinology and Metabolism, Faculty of Medicine, Ankara Yildirim Beyazit University, Ankara, Turkey

Search for other papers by Berna Evranos Ogmen in
Google Scholar
PubMed
Close
,
Ali Abbas Tam Department of Endocrinology and Metabolism, Faculty of Medicine, Ankara Yildirim Beyazit University, Ankara, Turkey

Search for other papers by Ali Abbas Tam in
Google Scholar
PubMed
Close
,
Husniye Baser Department of Endocrinology and Metabolism, Faculty of Medicine, Ankara Yildirim Beyazit University, Ankara, Turkey

Search for other papers by Husniye Baser in
Google Scholar
PubMed
Close
,
Aylin Kilic Yazgan Department of Pathology, Ankara Ataturk Education and Research Hospital, Ankara, Turkey

Search for other papers by Aylin Kilic Yazgan in
Google Scholar
PubMed
Close
,
Mehmet Kilic Department of General Surgery, Faculty of Medicine, Ankara Yildirim Beyazit University, Ankara, Turkey

Search for other papers by Mehmet Kilic in
Google Scholar
PubMed
Close
,
Afra Alkan Department of Biostatistics, Faculty of Medicine, Ankara Yildirim Beyazit University, Ankara, Turkey

Search for other papers by Afra Alkan in
Google Scholar
PubMed
Close
, and
Reyhan Ersoy Department of Endocrinology and Metabolism, Faculty of Medicine, Ankara Yildirim Beyazit University, Ankara, Turkey

Search for other papers by Reyhan Ersoy in
Google Scholar
PubMed
Close

Background

Despite significant improvement in imaging quality and advanced scientific knowledge, it may still sometimes be difficult to distinguish different parathyroid lesions. The aims of this prospective study were to evaluate parathyroid lesions with ultrasound elastography and to determine whether strain index can help to differentiate parathyroid lesions.

Methods

Patients with biochemically confirmed hyperparathyroidism and localised parathyroid lesions in ultrasonography were included. All patients underwent B-mode US and USE examination. Ultrasound elastography scores and strain index of lesions were determined. Strain index was defined as the ratio of strain of the thyroid parenchyma to the strain of the parathyroid lesion.

Results

Data of 245 lesions of 230 patients were analysed. Histopathologically, there were 202 (82.45%) parathyroid adenomas, 26 (10.61%) atypical parathyroid adenomas, and 17 (6.94%) cases of parathyroid hyperplasia. Median serum Ca was significantly higher in atypical parathyroid adenoma patients than parathyroid hyperplasia patients (P = 0.019) and median PTH was significantly higher in APA compared to PA patients (P < 0.001). In 221 (90.2%) of the parathyroid lesions, USE score was 1 or 2. The median SI of atypical parathyroid adenomas was significantly higher than parathyroid adenomas and hyperplasia lesions (1.5 (0.56–4.86), 1.01 (0.21–8.43) and 0.91 (0.26–2.02), respectively, P = 0.003).

Conclusion

Our study revealed that SI of parathyroid lesions as well as serum calcium, parathyroid hormone levels, and B-mode US features may help to predict the atypical parathyroid adenoma. Ultrasound elastography can be used to differentiate among parathyroid lesions and guide a surgical approach.

Open access
Felix Haglund Department of Oncology–Pathology, Cancer Centre Karolinska, Department of Biosciences and Nutrition, Department of Molecular Medicine and Surgery, Department of Surgery #4, Karolinska Institutet, Stockholm, Sweden
Department of Oncology–Pathology, Cancer Centre Karolinska, Department of Biosciences and Nutrition, Department of Molecular Medicine and Surgery, Department of Surgery #4, Karolinska Institutet, Stockholm, Sweden

Search for other papers by Felix Haglund in
Google Scholar
PubMed
Close
,
Gustaf Rosin Department of Oncology–Pathology, Cancer Centre Karolinska, Department of Biosciences and Nutrition, Department of Molecular Medicine and Surgery, Department of Surgery #4, Karolinska Institutet, Stockholm, Sweden
Department of Oncology–Pathology, Cancer Centre Karolinska, Department of Biosciences and Nutrition, Department of Molecular Medicine and Surgery, Department of Surgery #4, Karolinska Institutet, Stockholm, Sweden
Department of Oncology–Pathology, Cancer Centre Karolinska, Department of Biosciences and Nutrition, Department of Molecular Medicine and Surgery, Department of Surgery #4, Karolinska Institutet, Stockholm, Sweden

Search for other papers by Gustaf Rosin in
Google Scholar
PubMed
Close
,
Inga-Lena Nilsson Department of Oncology–Pathology, Cancer Centre Karolinska, Department of Biosciences and Nutrition, Department of Molecular Medicine and Surgery, Department of Surgery #4, Karolinska Institutet, Stockholm, Sweden

Search for other papers by Inga-Lena Nilsson in
Google Scholar
PubMed
Close
,
C Christofer Juhlin Department of Oncology–Pathology, Cancer Centre Karolinska, Department of Biosciences and Nutrition, Department of Molecular Medicine and Surgery, Department of Surgery #4, Karolinska Institutet, Stockholm, Sweden
Department of Oncology–Pathology, Cancer Centre Karolinska, Department of Biosciences and Nutrition, Department of Molecular Medicine and Surgery, Department of Surgery #4, Karolinska Institutet, Stockholm, Sweden

Search for other papers by C Christofer Juhlin in
Google Scholar
PubMed
Close
,
Ylva Pernow Department of Oncology–Pathology, Cancer Centre Karolinska, Department of Biosciences and Nutrition, Department of Molecular Medicine and Surgery, Department of Surgery #4, Karolinska Institutet, Stockholm, Sweden

Search for other papers by Ylva Pernow in
Google Scholar
PubMed
Close
,
Sophie Norenstedt Department of Oncology–Pathology, Cancer Centre Karolinska, Department of Biosciences and Nutrition, Department of Molecular Medicine and Surgery, Department of Surgery #4, Karolinska Institutet, Stockholm, Sweden

Search for other papers by Sophie Norenstedt in
Google Scholar
PubMed
Close
,
Andrii Dinets Department of Oncology–Pathology, Cancer Centre Karolinska, Department of Biosciences and Nutrition, Department of Molecular Medicine and Surgery, Department of Surgery #4, Karolinska Institutet, Stockholm, Sweden
Department of Oncology–Pathology, Cancer Centre Karolinska, Department of Biosciences and Nutrition, Department of Molecular Medicine and Surgery, Department of Surgery #4, Karolinska Institutet, Stockholm, Sweden
Department of Oncology–Pathology, Cancer Centre Karolinska, Department of Biosciences and Nutrition, Department of Molecular Medicine and Surgery, Department of Surgery #4, Karolinska Institutet, Stockholm, Sweden

Search for other papers by Andrii Dinets in
Google Scholar
PubMed
Close
,
Catharina Larsson Department of Oncology–Pathology, Cancer Centre Karolinska, Department of Biosciences and Nutrition, Department of Molecular Medicine and Surgery, Department of Surgery #4, Karolinska Institutet, Stockholm, Sweden
Department of Oncology–Pathology, Cancer Centre Karolinska, Department of Biosciences and Nutrition, Department of Molecular Medicine and Surgery, Department of Surgery #4, Karolinska Institutet, Stockholm, Sweden

Search for other papers by Catharina Larsson in
Google Scholar
PubMed
Close
,
Johan Hartman Department of Oncology–Pathology, Cancer Centre Karolinska, Department of Biosciences and Nutrition, Department of Molecular Medicine and Surgery, Department of Surgery #4, Karolinska Institutet, Stockholm, Sweden
Department of Oncology–Pathology, Cancer Centre Karolinska, Department of Biosciences and Nutrition, Department of Molecular Medicine and Surgery, Department of Surgery #4, Karolinska Institutet, Stockholm, Sweden

Search for other papers by Johan Hartman in
Google Scholar
PubMed
Close
, and
Anders Höög Department of Oncology–Pathology, Cancer Centre Karolinska, Department of Biosciences and Nutrition, Department of Molecular Medicine and Surgery, Department of Surgery #4, Karolinska Institutet, Stockholm, Sweden
Department of Oncology–Pathology, Cancer Centre Karolinska, Department of Biosciences and Nutrition, Department of Molecular Medicine and Surgery, Department of Surgery #4, Karolinska Institutet, Stockholm, Sweden

Search for other papers by Anders Höög in
Google Scholar
PubMed
Close

Primary hyperparathyroidism (PHPT) is a common endocrinopathy, frequently caused by a parathyroid adenoma, rarely by a parathyroid carcinoma that lacks effective oncological treatment. As the majority of cases are present in postmenopausal women, oestrogen signalling has been implicated in the tumourigenesis. Oestrogen receptor beta 1 (ERB1) and ERB2 have been recently identified in parathyroid adenomas, the former inducing genes coupled to tumour apoptosis. We applied immunohistochemistry and slide digitalisation to quantify nuclear ERB1 and ERB2 in 172 parathyroid adenomas, atypical adenomas and carcinomas, and ten normal parathyroid glands. All the normal parathyroid glands expressed ERB1 and ERB2. The majority of tumours expressed ERB1 (70.6%) at varying intensities, and ERB2 (96.5%) at strong intensities. Parathyroid carcinomas expressed ERB1 in three out of six cases and ERB2 in five out of six cases. The intensity of tumour nuclear ERB1 staining significantly correlated inversely with tumour weight (P=0.011), and patients whose tumours were classified as ERB1-negative had significantly greater tumour weight as well as higher serum calcium (P=0.002) and parathyroid hormone levels (P=0.003). Additionally, tumour nuclear ERB1 was not expressed differentially with respect to sex or age of the patient. Levels of tumour nuclear ERB2 did not correlate with clinical characteristics. In conclusion, decreased ERB1 immunoreactivity is associated with increased tumour weight in parathyroid adenomas. Given the previously reported correlation with tumour-suppressive signalling, selective oestrogen receptor modulation (SERMs) may play a role in the treatment of parathyroid carcinomas. Future studies of SERMs and oestrogen treatment in PHPT should consider tumour weight as a potential factor in pharmacological responsiveness.

Open access
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
Ann-Kristin Picke Institute of Comparative Molecular Endocrinology, Ulm University, Ulm, Germany

Search for other papers by Ann-Kristin Picke in
Google Scholar
PubMed
Close
,
Graeme Campbell Institute of Biomechanics, TUHH Hamburg University of Technology, Hamburg, Germany

Search for other papers by Graeme Campbell in
Google Scholar
PubMed
Close
,
Nicola Napoli Diabetes and Bone Network, Department Endocrinology and Diabetes, University Campus Bio-Medico of Rome, Rome, Italy
Division of Bone and Mineral Diseases, Washington University in St Louis, St Louis, Missouri, USA

Search for other papers by Nicola Napoli in
Google Scholar
PubMed
Close
,
Lorenz C Hofbauer Department of Medicine III & Center for Healthy Aging, Technische Universität Dresden, Dresden, Germany

Search for other papers by Lorenz C Hofbauer in
Google Scholar
PubMed
Close
, and
Martina Rauner Department of Medicine III & Center for Healthy Aging, Technische Universität Dresden, Dresden, Germany

Search for other papers by Martina Rauner in
Google Scholar
PubMed
Close

The prevalence of type 2 diabetes mellitus (T2DM) is increasing worldwide, especially as a result of our aging society, high caloric intake and sedentary lifestyle. Besides the well-known complications of T2DM on the cardiovascular system, the eyes, kidneys and nerves, bone strength is also impaired in diabetic patients. Patients with T2DM have a 40–70% increased risk for fractures, despite having a normal to increased bone mineral density, suggesting that other factors besides bone quantity must account for increased bone fragility. This review summarizes the current knowledge on the complex effects of T2DM on bone including effects on bone cells, bone material properties and other endocrine systems that subsequently affect bone, discusses the effects of T2DM medications on bone and concludes with a model identifying factors that may contribute to poor bone quality and increased bone fragility in T2DM.

Open access
Mojca Zerjav Tansek Department of Pediatric Endocrinology, Diabetes and Metabolic Diseases, University Children’s Hospital, UMC Ljubljana, Ljubljana, Slovenia
University of Ljubljana, Faculty of Medicine, Ljubljana, Slovenia

Search for other papers by Mojca Zerjav Tansek in
Google Scholar
PubMed
Close
,
Ana Bertoncel University of Ljubljana, Faculty of Medicine, Ljubljana, Slovenia

Search for other papers by Ana Bertoncel in
Google Scholar
PubMed
Close
,
Brina Sebez University of Ljubljana, Faculty of Medicine, Ljubljana, Slovenia

Search for other papers by Brina Sebez in
Google Scholar
PubMed
Close
,
Janez Zibert Centre for Health Informatics and Statistics, Faculty of Health Sciences, University of Ljubljana, Ljubljana, Slovenia

Search for other papers by Janez Zibert in
Google Scholar
PubMed
Close
,
Urh Groselj Department of Pediatric Endocrinology, Diabetes and Metabolic Diseases, University Children’s Hospital, UMC Ljubljana, Ljubljana, Slovenia
University of Ljubljana, Faculty of Medicine, Ljubljana, Slovenia

Search for other papers by Urh Groselj in
Google Scholar
PubMed
Close
,
Tadej Battelino Department of Pediatric Endocrinology, Diabetes and Metabolic Diseases, University Children’s Hospital, UMC Ljubljana, Ljubljana, Slovenia
University of Ljubljana, Faculty of Medicine, Ljubljana, Slovenia

Search for other papers by Tadej Battelino in
Google Scholar
PubMed
Close
, and
Magdalena Avbelj Stefanija Department of Pediatric Endocrinology, Diabetes and Metabolic Diseases, University Children’s Hospital, UMC Ljubljana, Ljubljana, Slovenia
University of Ljubljana, Faculty of Medicine, Ljubljana, Slovenia

Search for other papers by Magdalena Avbelj Stefanija in
Google Scholar
PubMed
Close

Despite recent improvements in the composition of the diet, lower mineral bone density and overweight tendencies are incoherently described in patients with phenylketonuria (PKU). The impact of dietary factors and plasma phenylalanine levels on growth, BMI, body composition, and bone mineral density was investigated in our cohort of patients with hyperphenylalaninemia (HPA) with or without dietary treatment. The anthropometric, metabolic, BMI and other nutritional indicators and bone mineral density were compared between the group of 96 treated patients with PKU (58 classic PKU (cPKU) and 38 patients with moderate-mild PKU defined as non-classic PKU (non-cPKU)) and the untreated group of 62 patients with benign HPA. Having compared the treated and untreated groups, there were normal outcomes and no statistically significant differences in BMI, body composition, and bone mineral density. Lower body height standard deviation scores were observed in the treated as compared to the untreated group (P < 0.001), but the difference was not significant when analyzing patients older than 18 years; however, cPKU adults were shorter compared to non-cPKU treated adults (P = 0.012). Interestingly, the whole-body fat was statistically higher in non-cPKU as compared to cPKU patients. In conclusion, the dietary treatment ensured adequate nutrition without significant consequences in BMI, body composition, and bone mineral density. A low protein diet may have delayed the growth in childhood, but the treated patients gained a normal final height. Mild untreated hyperphenylalaninemia characteristic for benign HPA had no negative physiological effect on bone mineral density.

Open access