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  • Parathyroid x
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Sophie Bondje Lister Hospital, Stevenage, UK

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Camilla Barnes Lister Hospital, Stevenage, UK

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Felicity Kaplan Lister Hospital, Stevenage, UK

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Summary

Milk–alkali syndrome (MAS) is a triad of hypercalcaemia, metabolic alkalosis and renal insufficiency. In this study, we present a case of milk–alkali syndrome secondary to concurrent use of over-the-counter (OTC) calcium carbonate-containing antacid tablets (Rennie®) for dyspepsia and calcium carbonate with vitamin D3 (Adcal D3) for osteoporosis. A 72-year-old woman presented with a 2-day history of nausea, vomiting, epigastric pain, constipation, lethargy and mild delirium. Past medical history included osteoporosis treated with daily Adcal D3. Initial blood tests showed elevated serum-adjusted calcium of 3.77 mmol/L (normal range, 2.2–2.6) and creatinine of 292 µmol/L (45–84) from a baseline of 84. This was corrected with i.v. pamidronate and i.v. fluids. She developed asymptomatic hypocalcaemia and rebound hyperparathyroidism. Myeloma screen, vasculitis screen and serum angiotensin-converting enzyme (ACE) were normal, while the CT of the chest, abdomen and pelvis showed renal stones but no malignancy. A bone marrow biopsy showed no evidence of malignancy. Once the delirium resolved, we established that prior to admission, she had been excessively self-medicating with over-the-counter antacids (Rennie®) as required for epigastric pain. The increasing use of calcium preparations for the management of osteoporosis in addition to easily available OTC dyspepsia preparations has made MAS the third most common cause of hypercalcaemia hospitalisations. Educating patients and healthcare professionals on the risks associated with these seemingly safe medications is required. Appropriate warning labels on both calcium preparations used in the management of osteoporosis and OTC calcium-containing preparations would prevent further similar cases and unnecessary morbidity and hospital admission.

Learning points

What is known?

  • An association between high-dose calcium supplementation and hypercalcaemia crisis has been seen in case studies.

  • After as little as 1 week of excessive calcium carbonate ingestion, patients can present with symptomatic hypercalcemia, acute renal failure and metabolic alkalosis ().

  • Women aged 50 and younger need 1 g of calcium per day, while aged 51 and older need 1.2 g ().

  • Although the amount of calcium required for MAS is generally thought to be more than 4 g per day, there have been reports at intakes as low as 1.0–1.5 g per day in pre-existing risk factors including renal impairment ().

What this study adds?

  • The danger of excessive ingestion of antacid is not adequately highlighted to prescribers and patients.

  • Appropriate warning labels on OTC calcium-containing preparations could prevent unnecessary morbidity and hospital admission.

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S Hamidi Division of Endocrinology, Department of Medicine, Hôpital Maisonneuve-Rosemont, Montréal, Canada

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S Mottard Division of Orthopedic Surgery, Department of Surgery, Hôpital Maisonneuve-Rosemont, Montréal, Canada

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M J Berthiaume Department of Radiology, Hôpital Maisonneuve-Rosemont, Montréal, Canada

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J Doyon Department of Pathology, Hôpital Maisonneuve-Rosemont, Montréal, Canada

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M J Bégin Division of Endocrinology, Department of Medicine, Hôpital Maisonneuve-Rosemont, Montréal, Canada

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L Bondaz Division of Endocrinology, Department of Medicine, Hôpital Maisonneuve-Rosemont, Montréal, Canada

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Summary

Brown tumors (BTs) are expansile osteolytic lesions complicating severe primary hyperparathyroidism (PHPT). Clinical, radiological and histological features of BTs share many similarities with other giant cell-containing lesions of the bone, which can make their diagnosis challenging. We report the case of a 32-year-old man in whom an aggressive osteolytic lesion of the iliac crest was initially diagnosed as a giant cell tumor by biopsy. The patient was scheduled for surgical curettage, with a course of neoadjuvant denosumab. Routine biochemical workup prior to denosumab administration incidentally revealed high serum calcium levels. The patient was diagnosed with PHPT and a parathyroid adenoma was identified. In light of these findings, histological slices of the iliac lesion were reviewed and diagnosis of a BT was confirmed. Follow-up CT-scans performed 2 and 7 months after parathyroidectomy showed regression and re-ossification of the bone lesion. The aim of this case report is to underline the importance of distinguishing BTs from other giant cell-containing lesions of the bone and to highlight the relevance of measuring serum calcium as part of the initial evaluation of osteolytic bone lesions. This can have a major impact on patients’ management and can prevent unnecessary invasive surgical interventions.

Learning points:

  • Although rare, brown tumors should always be considered in the differential diagnosis of osteolytic giant cell-containing bone lesions.

  • Among giant cell-containing lesions of the bone, the main differential diagnoses of brown tumors are giant cell tumors and aneurysmal bone cysts.

  • Clinical, radiological and histological characteristics can be non-discriminating between brown tumors and giant cell tumors. One of the best ways to distinguish these two diagnoses appears to be through biochemical workup.

  • Differentiating brown tumors from giant cell tumors and aneurysmal bone cysts is crucial in order to ensure better patient care and prevent unnecessary morbid surgical interventions.

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Alejandro García-Castaño Biocruces Bizkaia Health Research Institute, CIBERDEM, CIBERER, Barakaldo, Spain

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Leire Madariaga Biocruces Bizkaia Health Research Institute, CIBERDEM, CIBERER, Barakaldo, Spain
Hospital Universitario Cruces, UPV/EHU, Barakaldo, Spain

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Sharona Azriel Hospital Infanta Sofia, Madrid, Spain

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Gustavo Pérez de Nanclares Biocruces Bizkaia Health Research Institute, CIBERDEM, CIBERER, Barakaldo, Spain
Hospital Universitario Cruces, UPV/EHU, Barakaldo, Spain

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Idoia Martínez de LaPiscina Biocruces Bizkaia Health Research Institute, CIBERDEM, CIBERER, Barakaldo, Spain

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Rosa Martínez Biocruces Bizkaia Health Research Institute, CIBERDEM, CIBERER, Barakaldo, Spain

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Inés Urrutia Biocruces Bizkaia Health Research Institute, CIBERDEM, CIBERER, Barakaldo, Spain

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Aníbal Aguayo Biocruces Bizkaia Health Research Institute, CIBERDEM, CIBERER, Barakaldo, Spain
Hospital Universitario Cruces, UPV/EHU, Barakaldo, Spain

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Sonia Gaztambide Biocruces Bizkaia Health Research Institute, CIBERDEM, CIBERER, Barakaldo, Spain
Hospital Universitario Cruces, UPV/EHU, Barakaldo, Spain

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Luis Castaño Biocruces Bizkaia Health Research Institute, CIBERDEM, CIBERER, Barakaldo, Spain
Hospital Universitario Cruces, UPV/EHU, Barakaldo, Spain

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Summary

Familial hypocalciuric hypercalcemia type I is an autosomal dominant disorder caused by heterozygous loss-of-function mutations in the CASR gene and is characterized by moderately elevated serum calcium concentrations, low urinary calcium excretion and inappropriately normal or mildly elevated parathyroid hormone (PTH) concentrations. We performed a clinical and genetic characterization of one patient suspected of familial hypocalciuric hypercalcemia type I. Patient presented persistent hypercalcemia with normal PTH and 25-hydroxyvitamin D levels. The CASR was screened for mutations by PCR followed by direct Sanger sequencing and, in order to detect large deletions or duplications, multiplex ligation-dependent probe amplification (MLPA) was used. One large deletion of 973 nucleotides in heterozygous state (c.1733-255_2450del) was detected. This is the first large deletion detected by the MLPA technique in the CASR gene.

Learning points:

  • Molecular studies are important to confirm the differential diagnosis of FHH from primary hyperparathyroidism.

  • Large deletions or duplications in the CASR gene can be detected by the MLPA technique.

  • Understanding the functional impact of the mutations is critical for leading pharmacological research and could facilitate the therapy of patients.

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Maryam Heidarpour Isfahan University of Medical Sciences Isfahan Endocrine and Metabolism Research Center Ringgold Standard Institution, Isfahan, Iran

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Mehdi Karami Isfahan University of Medical Sciences Isfahan Endocrine and Metabolism Research Center Ringgold Standard Institution, Isfahan, Iran

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Pegah Hedayat Isfahan University of Medical Sciences Isfahan Endocrine and Metabolism Research Center Ringgold Standard Institution, Isfahan, Iran

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Ashraf Aminorroaya Isfahan University of Medical Sciences Isfahan Endocrine and Metabolism Research Center Ringgold Standard Institution, Isfahan, Iran

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Summary

Primary hyperparathyroidism revealed by thoracic spine brown tumor and peptic ulcer bleeding is rare. We presented a case of 33-year-old male patient who was admitted with paraplegia. Thoracic spine magnetic resonance imaging (MRI) showed extradural lesion at T4 level. He underwent surgical decompression in T4. According to histopathologic finding and elevated serum parathormone (PTH) and hypercalcemia (total serum calcium 12.1 mg/dL), the diagnosis of brown tumor was down. Ultrasonography of his neck showed a well-defined lesion of 26 × 14 × 6 mm. The day after surgery, he experienced 2 episodes of melena. Bedside upper gastrointestinal endoscopy showed gastric peptic ulcer with visible vessel. Treatment with intragastric local instillation of epinephrine and argon plasma coagulation was done to stop bleeding. After stabilization of the patient, parathyroidectomy was performed. Histologic study showed the parathyroid adenoma without any manifestation of malignancy. At discharge, serum calcium was normal (8.6 mg/dL). On 40th day of discharge, standing and walking status was normal.

Learning points:

  • Thoracic spine involvement is a very rare presentation of primary hyperparathyroidism.

  • The issue of whether primary hyperparathyroidism increases the risk of peptic ulcer disease remains controversial. However, gastrointestinal involvement has been reported in association with classic severe primary hyperparathyroidism.

  • The treatment of brown tumor varies from case to case.

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Maria P Yavropoulou Division of Clinical and Molecular Endocrinology, 1st Department of Internal Medicine, AHEPA University Hospital, Aristotle University of Thessaloniki, 1 Stilponos, Kyriakidi Street, Thessaloniki, 54636, Greece

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Nikolina Gerothanasi Division of Clinical and Molecular Endocrinology, 1st Department of Internal Medicine, AHEPA University Hospital, Aristotle University of Thessaloniki, 1 Stilponos, Kyriakidi Street, Thessaloniki, 54636, Greece

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Athanasios Frydas Division of Clinical and Molecular Endocrinology, 1st Department of Internal Medicine, AHEPA University Hospital, Aristotle University of Thessaloniki, 1 Stilponos, Kyriakidi Street, Thessaloniki, 54636, Greece

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Evangelia Triantafyllou Division of Clinical and Molecular Endocrinology, 1st Department of Internal Medicine, AHEPA University Hospital, Aristotle University of Thessaloniki, 1 Stilponos, Kyriakidi Street, Thessaloniki, 54636, Greece

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Chris Poulios Pathology Department, Faculty of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece

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Prodromos Hytiroglou Pathology Department, Faculty of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece

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Panagiotis Apostolou Research Genetic Cancer Centre Ltd (RGCC Ltd), Florina, Greece

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Ioannis Papasotiriou Research Genetic Cancer Centre Ltd (RGCC Ltd), Florina, Greece

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Symeon Tournis Laboratory of Research of Musculoskeletal System ‘Th. Garofalidis’, Medical School, KAT Hospital, University of Athens, Athens, Greece

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Isaak Kesisoglou 3rd Department of Surgery, AHEPA University Hospital, Aristotle University of Thessaloniki, Thessaloniki, Greece

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John G Yovos Division of Clinical and Molecular Endocrinology, 1st Department of Internal Medicine, AHEPA University Hospital, Aristotle University of Thessaloniki, 1 Stilponos, Kyriakidi Street, Thessaloniki, 54636, Greece

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Summary

Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome caused primarily by benign mesenchymal tumors. These tumors typically follow a benign clinical course and local recurrence occurs in <5% of cases. We investigated a 49-year-old man with a recurrent mesenchymal phosphaturic tumor showing no signs of malignancy. The patient suffered from chronic muscle weakness, myalgia and cramps. His medical record included the diagnosis of oncogenic osteomalacia, for which he was submitted to tumor resection in the left leg three times before. Laboratory examination showed hypophosphatemia, hyperphosphaturia and an elevated serum FGF23 level. A radical surgical approach (amputation) was advised, however, complete biochemical and clinical remission was not reached. Molecular analysis of the tumor cells demonstrated overexpression of growth factor receptors implicated in tumor angiogenesis and metastatic potential (platelet derived growth factor type A (PDGFRA), PDGFRB and vascular endothelial growth factor receptor) together with increased expression of FGF23, x-linked-phosphate-regulating endopeptidase and KLOTHO. TIO is usually associated with benign phosphauturic tumors and, when identified, resection of the tumor leads to complete remission in the majority of cases. The underlying pathophysiology of recurrences in these tumors is not known. This is the first report showing increased expression of growth factor receptors in a locally aggressive but histopathologically benign phosphaturic mesenchymal tumor.

Learning points

  • TIO is usually associated with benign soft tissue or bone neoplasms of mesenchymal origin.

  • These tumors typically follow a benign clinical course and even in the rare malignant cases local recurrence occurs in <5%.

  • Successful identification and removal of the tumor leads to full recovery in the majority of cases.

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Hanna Remde
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Elke Kaminsky Laboratory for Molecular Genetics, Hamburg, Germany

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Mathias Werner Institute of Pathology, HELIOS Klinikum Emil von Behring, Stiftung Oskar-Helene-Heim, Berlin, Germany

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Marcus Quinkler Endocrinology in Charlottenburg, Stuttgarter Platz 1, Berlin, D 10627, Germany

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Summary

We report of a male patient aged 32 years who presented with primary hyperparathyroidism. Three parathyroid glands were resected. At the age of 46 years, nervus facialis irritation was noted, and an MRI scan incidentally revealed a non-functioning pituitary adenoma with affection of the chiasma opticum. The patient underwent transsphenoidal operation resulting in pituitary insufficiency postoperatively. At the same time, primary hyperparathyroidism reoccurred and a parathyroid adenoma located at the thymus was resected. The mother of the patient died early due to multiple tumors. The patient was suspected to have multiple endocrine neoplasia type 1 (MEN1) and genetic analysis was performed. In addition, on clinical examination, multiple exostoses were noticed and an additional genetic analysis was performed. His father was reported to have multiple osteochondromas too. MEN1 was diagnosed in the patient showing a novel heterozygote mutation c.2T>A in exon 2, codon 1 (start codon ATG>AAG;p.Met1?) of the MEN1 gene. In genetic mutational analysis of the EXT1 gene, another not yet known mutation c.1418-2A>C was found in intron 5 of the EXT1 gene (heterozygotic). In conclusion, we report novel mutations of the EXT1 and the MEN1 genes causing hereditary multiple osteochondromas and MEN1 in one patient.

Learning points

  • It is important to ask for the patient's family history in detail.

  • Patients with MEN1 are characterized by the occurrence of tumors in multiple endocrine tissues and nonendocrine tissues, most frequently parathyroid (95%), enteropancreatic neuroendocrine (50%), and anterior pituitary (40%) tissues.

  • Familiar MEN1 has a high degree of penetrance (80–95%) by the age over 50; however, combinations of the tumors may be different in members of the same family.

  • Patients with EXT1 gene mutations should be monitored for possible transformation of bone lesions into osteochondrosarcoma.

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