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Daniela Gallo Department of Medicine and Surgery, Endocrine Unit, University of Insubria, Varese, Italy

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Sara Rosetti Department of Medicine and Surgery, Endocrine Unit, University of Insubria, Varese, Italy

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Ilaria Marcon Department of Oncology, ASST dei Sette Laghi, Varese, Italy

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Elisabetta Armiraglio Pathology Unit, ASST Gaetano Pini, Centro Specialistico Ortopedico Traumatologico, Gaetano Pini-CTO, Milano, Italy

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Antonina Parafioriti Pathology Unit, ASST Gaetano Pini, Centro Specialistico Ortopedico Traumatologico, Gaetano Pini-CTO, Milano, Italy

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Graziella Pinotti Department of Oncology, ASST dei Sette Laghi, Varese, Italy

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Giuseppe Perrucchini I.R.C.C.S Istituto Ortopedico Galeazzi, Milano, Italy

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Bohdan Patera Department of Medicine and Surgery, Endocrine Unit, University of Insubria, Varese, Italy

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Linda Gentile Department of Medicine and Surgery, Endocrine Unit, University of Insubria, Varese, Italy

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Maria Laura Tanda Department of Medicine and Surgery, Endocrine Unit, University of Insubria, Varese, Italy

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Luigi Bartalena Department of Medicine and Surgery, Endocrine Unit, University of Insubria, Varese, Italy

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Eliana Piantanida Department of Medicine and Surgery, Endocrine Unit, University of Insubria, Varese, Italy

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Summary

Brown tumors are osteoclastic, benign lesions characterized by fibrotic stroma, intense vascularization and multinucleated giant cells. They are the terminal expression of the bone remodelling process occurring in advanced hyperparathyroidism. Nowadays, due to earlier diagnosis, primary hyperparathyroidism keeps few of the classical manifestations and brown tumors are definitely unexpected. Thus, it may happen that they are misdiagnosed as primary or metastatic bone cancer. Besides bone imaging, endocrine evaluation including measurement of serum parathyroid hormone and calcium (Ca) levels supports the pathologist to address the diagnosis. Herein, a case of multiple large brown tumors misdiagnosed as a non-treatable osteosarcoma is described, with special regards to diagnostic work-up. After selective parathyroidectomy, treatment with denosumab was initiated and a regular follow-up was established. The central role of multidisciplinary approach involving pathologist, endocrinologist and oncologist in the diagnostic and therapeutic work-up is reported. In our opinion, the discussion of this case would be functional especially for clinicians and pathologists not used to the differential diagnosis in uncommon bone disorders.

Learning points:

  • Brown tumors develop during the remodelling process of bone in advanced and long-lasting primary or secondary hyperparathyroidism.

  • Although rare, they should be considered during the challenging diagnostic work-up of giant cell lesions.

  • Coexistence of high parathyroid hormone levels and hypercalcemia in primary hyperparathyroidism is crucial for the diagnosis.

  • A detailed imaging study includes bone X-ray, bone scintiscan and total body CT; to rule out bone malignancy, evaluation of bone lesion biopsy should include immunostaining for neoplastic markers as H3G34W and Ki67 index.

  • If primary hyperparathyroidism is confirmed, selective parathyroidectomy is the first-line treatment.

  • In advanced bone disease, treatment with denosumab should be considered, ensuring a strict control of Ca levels.

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Carmina Teresa Fuss Division of Endocrinology and Diabetology, Department of Medicine I, University Hospital Würzburg, Würzburg, Germany

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Stephanie Burger-Stritt Division of Endocrinology and Diabetology, Department of Medicine I, University Hospital Würzburg, Würzburg, Germany

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Silke Horn Division of Endocrinology and Diabetology, Department of Medicine I, University Hospital Würzburg, Würzburg, Germany

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Ann-Cathrin Koschker Division of Endocrinology and Diabetology, Department of Medicine I, University Hospital Würzburg, Würzburg, Germany

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Kathrin Frey Division of Endocrinology and Diabetology, Department of Medicine I, University Hospital Würzburg, Würzburg, Germany

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Almuth Meyer Division of Endocrinology and Diabetology, Department of Internal Medicine, Helios Klinikum Erfurt, Erfurt, Germany

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Stefanie Hahner Division of Endocrinology and Diabetology, Department of Medicine I, University Hospital Würzburg, Würzburg, Germany

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Summary

Standard treatment of hypoparathyroidism consists of supplementation of calcium and vitamin D analogues, which does not fully restore calcium homeostasis. In some patients, hypoparathyroidism is refractory to standard treatment with persistent low serum calcium levels and associated clinical complications. Here, we report on three patients (58-year-old male, 52-year-old female, and 48-year-old female) suffering from severe treatment-refractory postsurgical hypoparathyroidism. Two patients had persistent hypocalcemia despite oral treatment with up to 4 µg calcitriol and up to 4 g calcium per day necessitating additional i.v. administration of calcium gluconate 2–3 times per week, whereas the third patient presented with high frequencies of hypocalcemic and treatment-associated hypercalcemic episodes. S.c. administration of rhPTH (1–34) twice daily (40 µg/day) or rhPTH (1–84) (100 µg/day) only temporarily increased serum calcium levels but did not lead to long-term stabilization. In all three cases, treatment with rhPTH (1–34) as continuous s.c. infusion via insulin pump was initiated. Normalization of serum calcium and serum phosphate levels was observed within 1 week at daily 1–34 parathyroid hormone doses of 15 µg to 29.4 µg. Oral vitamin D and calcium treatment could be stopped or reduced and regular i.v. calcium administration was no more necessary. Ongoing efficacy of this treatment has been documented for up to 7 years so far. Therefore, we conclude that hypoparathyroidism that is refractory to both conventional treatment and s.c. parathyroid hormone (single or twice daily) may be successfully treated with continuous parathyroid hormone administration via insulin pump.

Learning points:

  • Standard treatment of hypoparathyroidism still consists of administration of calcium and active vitamin D.

  • Very few patients with hypoparathyroidism also do not respond sufficiently to standard treatment or administration of s.c. parathyroid hormone once or twice daily.

  • In those cases, continuous s.c. administration of parathyroid hormone via insulin pump may represent a successful treatment alternative.

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Mawson Wang Nepean Blue Mountains Local Health District, Katoomba, New South Wales, Australia

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Catherine Cho Nepean Blue Mountains Local Health District, Katoomba, New South Wales, Australia

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Callum Gray Nepean Blue Mountains Local Health District, Katoomba, New South Wales, Australia

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Thora Y Chai Department of Endocrinology, Nepean Blue Mountains Local Health District, Kingswood, New South Wales, Australia
Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia

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Ruhaida Daud Nepean Blue Mountains Local Health District, Katoomba, New South Wales, Australia

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Matthew Luttrell Department of Endocrinology, Nepean Blue Mountains Local Health District, Kingswood, New South Wales, Australia

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Summary

We report the case of a 65-year-old female who presented with symptomatic hypercalcaemia (corrected calcium of 4.57 mmol/L) with confusion, myalgias and abdominal discomfort. She had a concomitant metabolic alkalosis (pH 7.46, HCO3 - 40 mmol/L, pCO2 54.6 mmHg). A history of significant Quick-Eze use (a calcium carbonate based antacid) for abdominal discomfort, for 2 weeks prior to presentation, suggested a diagnosis of milk-alkali syndrome (MAS). Further investigations did not demonstrate malignancy or primary hyperparathyroidism. Following management with i.v. fluid rehydration and a single dose of i.v. bisphosphonate, she developed symptomatic hypocalcaemia requiring oral and parenteral calcium replacement. She was discharged from the hospital with stable biochemistry on follow-up. This case demonstrates the importance of a detailed history in the diagnosis of severe hypercalcaemia, with MAS representing the third most common cause of hypercalcaemia. We discuss its pathophysiology and clinical importance, which can often present with severe hypercalcaemia that can respond precipitously to calcium-lowering therapy.

Learning points:

  • Milk-alkali syndrome is an often unrecognised cause for hypercalcaemia, but is the third most common cause of admission for hypercalcaemia.

  • Calcium ingestion leading to MAS can occur at intakes as low as 1.0–1.5 g per day in those with risk factors.

  • Early recognition of this syndrome can avoid the use of calcium-lowering therapy such as bisphosphonates which can precipitate hypocalcaemia.

Open access
Sara Lomelino-Pinheiro Endocrinology Department, Instituto Português de Oncologia de Lisboa Francisco Gentil, Lisboa, Portugal

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Bastos Margarida Endocrinology, Diabetes and Metabolism Department, Centro Hospitalar Universitário de Coimbra, Coimbra, Portugal

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Adriana de Sousa Lages Endocrinology, Diabetes and Metabolism Department, Centro Hospitalar Universitário de Coimbra, Coimbra, Portugal

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Summary

Familial hypomagnesemia with secondary hypocalcemia (FHSH) is a rare autosomal recessive disorder (OMIM# 602014) characterized by profound hypomagnesemia associated with hypocalcemia. It is caused by mutations in the gene encoding transient receptor potential cation channel member 6 (TRPM6). It usually presents with neurological symptoms in the first months of life. We report a case of a neonate presenting with recurrent seizures and severe hypomagnesemia. The genetic testing revealed a novel variant in the TRPM6 gene. The patient has been treated with high-dose magnesium supplementation, remaining asymptomatic and without neurological sequelae until adulthood. Early diagnosis and treatment are important to prevent irreversible neurological damage.

Learning points:

  • Loss-of-function mutations of TRPM6 are associated with FHSH.

  • FHSH should be considered in any child with refractory hypocalcemic seizures, especially in cases with serum magnesium levels as low as 0.2 mM.

  • Normocalcemia and relief of clinical symptoms can be assured by administration of high doses of magnesium.

  • Untreated, the disorder may be fatal or may result in irreversible neurological damage.

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Florence Gunawan Barwon Health, Geelong University Hospital, Geelong, Victoria, Australia

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Elizabeth George Barwon Health, Geelong University Hospital, Geelong, Victoria, Australia

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Mark Kotowicz Barwon Health, Geelong University Hospital, Geelong, Victoria, Australia

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Summary

Denosumab is a fully human MAB that acts as a potent anti-resorptive by inhibiting activation of osteoclasts by inhibiting the receptor activator of nuclear factor-kappa B (RANK) ligand. Hypocalcaemia has been reported as one of the serious adverse sequelae of use of denosumab. We present a case of refractory hypocalcaemia following administration of a single dose of denosumab in a patient with metastatic castrate-resistant prostate cancer. The patient’s serum calcium and vitamin D concentrations and renal function were normal prior to denosumab administration. Serum alkaline phosphatase (ALP) level was however elevated pre-morbidly consistent with known bone metastases. The patient was treated with high-dose oral and IV calcium without any appreciable response in serum calcium. During his 30-day hospital admission, he demonstrated disease progression with development of new liver metastases and bone marrow involvement. Normocalcaemia was not achieved despite 1 month of aggressive therapy. Given the patient was asymptomatic and prognosis guarded, he was eventually discharged for ongoing supportive care under the palliative care team.

Learning points:

  • Denosumab is a potent anti-resorptive therapy and hypocalcaemia is one of the known adverse effects.

  • Serum calcium and vitamin D concentrations must be replete prior to administration of denosumab to reduce the risk of hypocalcaemia.

  • Denosumab has been proven to be more effective than zoledronic acid in preventing skeletal-related adverse effects in patients with metastatic castrate-resistant prostate cancer.

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Joanna Prokop Departments of Endocrinology, Centro Hospitalar Universitário Lisboa Central, Lisbon, Portugal

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João Estorninho Departments of Endocrinology, Centro Hospitalar Universitário Lisboa Central, Lisbon, Portugal

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Sara Marote Departments of Internal Medicine, Centro Hospitalar Universitário Lisboa Central, Lisbon, Portugal

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Teresa Sabino Departments of Endocrinology, Centro Hospitalar Universitário Lisboa Central, Lisbon, Portugal

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Aida Botelho de Sousa Departments of Hemato-Oncology, Centro Hospitalar Universitário Lisboa Central, Lisbon, Portugal

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Eduardo Silva Departments of Internal Medicine, Centro Hospitalar Universitário Lisboa Central, Lisbon, Portugal

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Ana Agapito Departments of Endocrinology, Centro Hospitalar Universitário Lisboa Central, Lisbon, Portugal

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Summary

POEMS syndrome (Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal protein and Skin changes) is a rare multisystemic disease. Clinical presentation is variable, the only mandatory criteria being polyneuropathy and monoclonal gammapathy in association with one major and one minor criterion. Primary adrenal insufficiency is rarely reported. We describe a case of a 33-year-old patient, in whom the presenting symptoms were mandibular mass, chronic sensory-motor peripheral polyneuropathy and adrenal insufficiency. The laboratory evaluation revealed thrombocytosis, severe hyperkalemia with normal renal function, normal protein electrophoresis and negative serum immunofixation for monoclonal protein. Endocrinologic laboratory work-up confirmed Addison’s disease and revealed subclinical primary hypothyroidism. Thoracic abdominal CT showed hepatosplenomegaly, multiple sclerotic lesions in thoracic vertebra and ribs. The histopathologic examination of the mandibular mass was nondiagnostic. Bone marrow biopsy revealed plasma cell dyscrasia and confirmed POEMS syndrome. Axillary lymphadenopathy biopsy: Castleman’s disease. Gluco-mineralocorticoid substitution and levothyroxine therapy were started with clinical improvement. Autologous hematopoietic cell transplantation (HCT) was planned, cyclophosphamide induction was started. Meanwhile the patient suffered two ischemic strokes which resulted in aphasia and hemiparesis. Cerebral angiography revealed vascular lesions compatible with vasculitis and stenosis of two cerebral arteries. The patient deceased 14 months after the diagnosis. The young age at presentation, multiplicity of manifestations and difficulties in investigation along with the absence of serum monoclonal protein made the diagnosis challenging. We report this case to highlight the need to consider POEMS syndrome in differential diagnosis of peripheral neuropathy in association with endocrine abnormalities even in young patients.

Learning points:

  • POEMS syndrome is considered a ‘low tumor burden disease’ and the monoclonal protein in 15% of cases is not found by immunofixation.

  • Neuropathy is the dominant characteristic of POEMS syndrome and it is peripheral, ascending, symmetric and affecting both sensation and motor function.

  • Endocrinopathies are a frequent feature of POEMS syndrome, but the cause is unknown.

  • The most common endocrinopathies are hypogonadism, primary hypothyroidism and abnormalities in glucose metabolism.

  • There is no standard therapy; however, patients with disseminated bone marrow involvement are treated with chemotherapy with or without HCT.

Open access
Matthieu St-Jean Division of Endocrinology, Department of Medicine and Research Center, Centre Hospitalier Universitaire de Montréal, Montréal, Québec, Canada

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Jessica MacKenzie-Feder Division of Endocrinology, Department of Medicine and Research Center, Centre Hospitalier Universitaire de Montréal, Montréal, Québec, Canada

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Isabelle Bourdeau Division of Endocrinology, Department of Medicine and Research Center, Centre Hospitalier Universitaire de Montréal, Montréal, Québec, Canada

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André Lacroix Division of Endocrinology, Department of Medicine and Research Center, Centre Hospitalier Universitaire de Montréal, Montréal, Québec, Canada

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Summary

A 29-year-old G4A3 woman presented at 25 weeks of pregnancy with progressive signs of Cushing’s syndrome (CS), gestational diabetes requiring insulin and hypertension. A 3.4 × 3.3 cm right adrenal adenoma was identified during abdominal ultrasound imaging for nephrolithiasis. Investigation revealed elevated levels of plasma cortisol, 24 h urinary free cortisol (UFC) and late-night salivary cortisol (LNSC). Serum ACTH levels were not fully suppressed (4 and 5 pmol/L (N: 2–11)). One month post-partum, CS regressed, 24-h UFC had normalised while ACTH levels were now less than 2 pmol/L; however, dexamethasone failed to suppress cortisol levels. Tests performed in vivo 6 weeks post-partum to identify aberrant hormone receptors showed no cortisol stimulation by various tests (including 300 IU hLH i.v.) except after administration of 250 µg i.v. Cosyntropin 1–24. Right adrenalectomy demonstrated an adrenocortical adenoma and atrophy of adjacent cortex. Quantitative RT-PCR analysis of the adenoma revealed the presence of ACTH (MC2) receptor mRNA, while LHCG receptor mRNA was almost undetectable. This case reveals that CS exacerbation in the context of pregnancy can result from the placental-derived ACTH stimulation of MC2 receptors on the adrenocortical adenoma. Possible contribution of other placental-derived factors such as oestrogens, CRH or CRH-like peptides cannot be ruled out.

Learning points:

  • Diagnosis of Cushing’s syndrome during pregnancy is complicated by several physiological alterations in hypothalamic–pituitary–adrenal axis regulation occurring in normal pregnancy.

  • Cushing’s syndrome (CS) exacerbation during pregnancy can be associated with aberrant expression of LHCG receptor on primary adrenocortical tumour or hyperplasia in some cases, but not in this patient.

  • Placental-derived ACTH, which is not subject to glucocorticoid negative feedback, stimulated cortisol secretion from this adrenal adenoma causing transient CS exacerbation during pregnancy.

  • Following delivery and tumour removal, suppression of HPA axis can require several months to recover and requires glucocorticoid replacement therapy.

Open access
Benjamin Kwan University of Sydney, Sydney, New South Wales, Australia
Department of Endocrinology, Concord Repatriation General Hospital, Sydney, New South Wales, Australia

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Bernard Champion University of Sydney, Sydney, New South Wales, Australia
Department of Clinical Medicine, Macquarie University, Sydney, New South Wales, Australia

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Steven Boyages University of Sydney, Sydney, New South Wales, Australia
Department of Endocrinology, Westmead Hospital, Sydney, New South Wales, Australia

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Craig F Munns University of Sydney, Sydney, New South Wales, Australia
The Children’s Hospital at Westmead, Sydney, New South Wales, Australia

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Roderick Clifton-Bligh University of Sydney, Sydney, New South Wales, Australia
Cancer Genetics Laboratory, Kolling Institute, Royal North Shore Hospital, Sydney, New South Wales, Australia

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Catherine Luxford University of Sydney, Sydney, New South Wales, Australia
Cancer Genetics Laboratory, Kolling Institute, Royal North Shore Hospital, Sydney, New South Wales, Australia

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Bronwyn Crawford University of Sydney, Sydney, New South Wales, Australia
Department of Endocrinology, Concord Repatriation General Hospital, Sydney, New South Wales, Australia

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Summary

Autosomal dominant hypocalcaemia type 1 (ADH1) is a rare familial disorder characterised by low serum calcium and low or inappropriately normal serum PTH. It is caused by activating CASR mutations, which produces a left-shift in the set point for extracellular calcium. We describe an Australian family with a novel heterozygous missense mutation in CASR causing ADH1. Mild neuromuscular symptoms (paraesthesia, carpopedal spasm) were present in most affected individuals and required treatment with calcium and calcitriol. Basal ganglia calcification was present in three out of four affected family members. This case highlights the importance of correctly identifying genetic causes of hypocalcaemia to allow for proper management and screening of family members.

Learning points:

  • ADH1 is a rare cause of hypoparathyroidism due to activating CASR mutations and is the mirror image of familial hypocalciuric hypercalcaemia.

  • In patients with ADH1, symptoms of hypocalcaemia may be mild or absent. Basal ganglia calcification may be present in over a third of patients.

  • CASR mutation analysis is required for diagnostic confirmation and to facilitate proper management, screening and genetic counselling of affected family members.

  • Treatment with calcium and activated vitamin D analogues should be reserved for symptomatic individuals due to the risk of exacerbating hypercalciuria and its associated complications.

Open access
Alex González Bóssolo Endocrinology, Diabetes and Metabolism

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Michelle Mangual Garcia Endocrinology

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Paula Jeffs González Endocrinology, Diabetes and Metabolism, San Juan City Hospital, Hato Rey Pathologies, San Juan, Puerto Rico

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Miosotis Garcia Endocrinology, Diabetes and Metabolism

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Guillermo Villarmarzo Endocrinology, Diabetes and Metabolism, San Juan City Hospital, Hato Rey Pathologies, San Juan, Puerto Rico

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Jose Hernán Martinez Endocrinology, Diabetes and Metabolism

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Summary

Classical papillary thyroid microcarcinoma (PTMC) is a variant of papillary thyroid carcinoma (PTC) known to have excellent prognosis. It has a mortality of 0.3%, even in the presence of distance metastasis. The latest American Thyroid Association guidelines state that although lobectomy is acceptable, active surveillance can be considered in the appropriate setting. We present the case of a 37-year-old female with a history of PTMC who underwent surgical management consisting of a total thyroidectomy. Although she has remained disease-free, her quality of life has been greatly affected by the sequelae of this procedure. This case serves as an excellent example of how first-line surgical treatment may result more harmful than the disease itself.

Learning points:

  • Papillary thyroid microcarcinoma (PTMC) has an excellent prognosis with a mortality of less than 1% even with the presence of distant metastases.

  • Active surveillance is a reasonable management approach for appropriately selected patients.

  • Patients should be thoroughly oriented about the risks and benefits of active surveillance vs immediate surgical treatment. This discussion should include the sequelae of surgery and potential impact on quality of life, especially in the younger population.

  • More studies are needed for stratification of PTMC behavior to determine if conservative management is adequate for all patients with this specific disease variant.

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K Nadarasa Department of Endocrinology, St Bartholomew's Hospital, London, UK

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M Bailey Department of Endocrinology, St Bartholomew's Hospital, London, UK

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H Chahal Imperial Centre for Endocrinology, Imperial College Healthcare NHS Trust, London, UK

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O Raja Department of Endocrinology, St Bartholomew's Hospital, London, UK

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R Bhat Department of Neonatology, King's College Hospital, London, UK

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C Gayle Department of Diabetes, King's College Hospital, London, UK

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A B Grossman Department of Endocrinology, St Bartholomew's Hospital, London, UK

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M R Druce Department of Endocrinology, St Bartholomew's Hospital, London, UK

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Summary

We present the case of a patient with metastatic parathyroid carcinoma whose hypercalcaemia was medically managed through two pregnancies. The diagnosis was made when the patient presented with chronic knee pain and radiological findings consistent with a brown tumour, at the age of 30. Her corrected calcium and parathyroid hormone (PTH) levels were significantly elevated. Following localisation studies, a right parathyroidectomy was performed with histology revealing parathyroid carcinoma, adherent to thyroid tissue. Aged 33, following biochemical recurrence of disease, the patient underwent a second operation. A subsequent CT and FDG–PET revealed bibasal pulmonary metastases. Aged 35, the patient was referred to our unit for treatment of persistent hypercalcaemia. The focus of treatment at this time was debulking metastatic disease using radiofrequency ablation. Despite advice to the contrary, the patient conceived twice while taking cinacalcet. Even though there are limited available data regarding the use of cinacalcet in pregnancy, both pregnancies continued to term with the delivery of healthy infants, using intensive medical management for persistent hypercalcaemia.

Learning points

  • Parathyroid carcinoma is a rare cause of primary hyperparathyroidism.

  • Hypercalcaemia during pregnancy can result in significant complications for both the mother and the foetus.

  • The use of high-dose cinacalcet in pregnancy has been shown, in this case, to aid in the management of resistant hypercalcaemia without teratogenicity.

Open access