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Open access

Peter Novodvorsky, Ziad Hussein, Muhammad Fahad Arshad, Ahmed Iqbal, Malee Fernando, Alia Munir, and Sabapathy P Balasubramanian

Summary

Spontaneous remission of primary hyperparathyroidism (PHPT) due to necrosis and haemorrhage of parathyroid adenoma, the so-called ‘parathyroid auto-infarction’ is a very rare, but previously described phenomenon. Patients usually undergo parathyroidectomy or remain under close clinical and biochemical surveillance. We report two cases of parathyroid auto-infarction diagnosed in the same tertiary centre; one managed surgically and the other conservatively up to the present time. Case #1 was a 51-year old man with PHPT (adjusted (adj.) calcium: 3.11 mmol/L (reference range (RR): 2.20–2.60 mmol/L), parathyroid hormone (PTH) 26.9 pmol/L (RR: 1.6–6.9 pmol/L) and urine calcium excretion consistent with PHPT) referred for parathyroidectomy. Repeat biochemistry 4 weeks later at the surgical clinic showed normal adj. calcium (2.43 mmol/L) and reduced PTH. Serial ultrasound imaging demonstrated reduction in size of the parathyroid lesion from 33 to 17 mm. Twenty months later, following recurrence of hypercalcaemia, he underwent neck exploration and resection of an enlarged right inferior parathyroid gland. Histology revealed increased fibrosis and haemosiderin deposits in the parathyroid lesion in keeping with auto-infarction. Case #2 was a 54-year-old lady admitted with severe hypercalcaemia (adj. calcium: 4.58 mmol/L, PTH 51.6 pmol/L (RR: 1.6–6.9 pmol/L)) and severe vitamin D deficiency. She was treated with intravenous fluids and pamidronate and 8 days later developed symptomatic hypocalcaemia (1.88 mmol/L) with dramatic decrease of PTH (17.6 pmol/L). MRI of the neck showed a 44 mm large cystic parathyroid lesion. To date, (18 months later), she has remained normocalcaemic.

Learning points:

  • Primary hyperparathyroidism (PHPT) is characterised by excess parathyroid hormone (PTH) secretion arising mostly from one or more autonomously functioning parathyroid adenomas (up to 85%), diffuse parathyroid hyperplasia (<15%) and in 1–2% of cases from parathyroid carcinoma.

  • PHPT and hypercalcaemia of malignancy, account for the majority of clinical presentations of hypercalcaemia.

  • Spontaneous remission of PHPT due to necrosis, haemorrhage and infarction of parathyroid adenoma, the so-called ‘parathyroid auto-infarction’, ‘auto-parathyroidectomy’ or ‘parathyroid apoplexy’ is a very rare in clinical practice but has been previously reported in the literature.

  • In most cases, patients with parathyroid auto-infarction undergo parathyroidectomy. Those who are managed conservatively need to remain under close clinical and biochemical surveillance long-term as in most cases PHPT recurs, sometimes several years after auto-infarction.

Open access

Cheuk-Lik Wong, Chun-Kit Fok, and Vicki Ho-Kee Tam

Summary

We report a case of elderly Chinese lady with neurofibromatosis type-1 presenting with longstanding palpitation, paroxysmal hypertension and osteoporosis. Biochemical testing showed mild hypercalcaemia with non-suppressed parathyroid hormone level suggestive of primary hyperparathyroidism, and mildly elevated urinary fractionated normetanephrine and plasma-free normetanephrine pointing to a catecholamine-secreting pheochromocytoma/paraganglioma. Further scintigraphic investigation revealed evidence of a solitary parathyroid adenoma causing primary hyperparathyroidism and a left pheochromocytoma. Resection of the parathyroid adenoma and pheochromocytoma resulted in normalization of biochemical abnormalities and hypertension. The rare concurrence of primary hyperparathyroidism and pheochromocytoma in neurofibromatosis type-1 is discussed.

Learning points:

Open access

Marina Tsoli, Anna Angelousi, Dimitra Rontogianni, Constantine Stratakis, and Gregory Kaltsas

Summary

Parathyroid carcinoma is an extremely rare endocrine malignancy that accounts for less than 1% of cases of primary hyperparathyroidism. We report a 44-year-old woman who presented with fatigue and diffuse bone pain. Laboratory findings revealed highly elevated serum calcium and parathyroid hormone (PTH) levels and a 4.5 × 3 × 2.5 cm cystic lesion in the lower pole of the right thyroid lobe that was shown histologically to be a parathyroid carcinoma. Ten years later, the patient developed brain and pulmonary metastases and recurrence of PTH-related hypercalcemia. Treatment of hypercalcemia along with localized radiotherapy and various chemotherapy regimens failed to induce a biochemical or radiological response. In conclusion, parathyroid carcinoma is a rare neoplasia that may develop metastases even after prolonged follow-up, for which there is no evidence-based treatment besides surgery. Different chemotherapeutic schemes did not prove to be of any benefit in our case highlighting the need for registering such patients to better understand tumor biology and develop specific treatment.

Learning points:

  • Metastases can develop many years after parathyroid cancer diagnosis.

  • Surgery is the only curative treatment for parathyroid carcinoma.

  • Chemotherapy and radiotherapy prove to be ineffective in parathyroid cancer treatment.

  • Patient registering is required in order to delineate underlining pathology and offer specific treatment.

Open access

Ling Zhu, Sueziani Binte Zainudin, Manish Kaushik, Li Yan Khor, and Chiaw Ling Chng

Summary

Type II amiodarone-induced thyrotoxicosis (AIT) is an uncommon cause of thyroid storm. Due to the rarity of the condition, little is known about the role of plasma exchange in the treatment of severe AIT. A 56-year-old male presented with thyroid storm 2months following cessation of amiodarone. Despite conventional treatment, his condition deteriorated. He underwent two cycles of plasma exchange, which successfully controlled the severe hyperthyroidism. The thyroid hormone levels continued to fall up to 10h following plasma exchange. He subsequently underwent emergency total thyroidectomy and the histology of thyroid gland confirmed type II AIT. Management of thyroid storm secondary to type II AIT can be challenging as patients may not respond to conventional treatments, and thyroid storm may be more harmful in AIT patients owing to the underlying cardiac disease. If used appropriately, plasma exchange can effectively reduce circulating hormones, to allow stabilisation of patients in preparation for emergency thyroidectomy.

Learning points

  • Type II AIT is an uncommon cause of thyroid storm and may not respond well to conventional thyroid storm treatment.

  • Prompt diagnosis and therapy are important, as patients may deteriorate rapidly.

  • Plasma exchange can be used as an effective bridging therapy to emergency thyroidectomy.

  • This case shows that in type II AIT, each cycle of plasma exchange can potentially lower free triiodothyronine levels for 10h.

  • Important factors to consider when planning plasma exchange as a treatment for thyroid storm include timing of each session, type of exchange fluid to be used and timing of surgery.

Restricted access

Shweta Birla, Viveka P Jyotsna, Rajiv Singla, Madhavi Tripathi, and Arundhati Sharma

Summary

Multiple endocrine neoplasia type 1 (MEN-1) is a rare autosomal-dominant disease characterized by tumors in endocrine and/or non endocrine organs due to mutations in MEN1 encoding a nuclear scaffold protein‘menin’ involved in regulation of different cellular activities. We report a novel 14 bp MEN1 deletion mutation in a 35-year-old female with history of recurrent epigastric pain, vomiting, loose stools and weight loss. On evaluation she was diagnosed to have multifocal gastro-duodenal gastrinoma with paraduodenal lymph nodes and solitary liver metastasis. She was also found to have primary hyperparathyroidism with bilateral inferior parathyroid adenoma. Pancreatico-duodenectomy with truncalvagotomy was performed. Four months later, radiofrequency ablation (RFA) of segment 4 of the liver was done followed by three and a half parathyroidectomy. MEN1 screening was carried out for the patient and her family members. MEN-1 sequencing in the patient revealed a heterozygous 14 bp exon 8 deletion. Evaluation for pathogenicity and protein structure prediction showed that the mutation led to a frameshift thereby causing premature termination resulting in a truncated protein. To conclude, a novel pathogenic MEN1 deletion mutation affecting its function was identified in a patient with hyperparathyroidism and gastrinoma. The report highlights the clinical consequences of the novel mutation and its impact on the structure and function of the protein. It also provides evidence for co-existence of pancreatic and duodenal gastrinomas in MEN1 syndrome. MEN1 testing provides important clues regarding etiology and therefore should be essentially undertaken in asymptomatic first degree relatives who could be potential carriers of the disease.

Learning points

  • Identification of a novel pathogenic MEN1 deletion mutation.

  • MEN1 mutation screening in patients with pituitary, parathyroid and pancreatic tumors, and their first degree relatives gives important clues about the etiology.

  • Pancreatic and duodenal gastrinomas may co-exist simultaneously in MEN1 syndrome.

Open access

Lara Ulrich, Graham Knee, and Colin Todd

Summary

Haemorrhage of a parathyroid adenoma is a rare clinical presentation. This report describes a previously fit and well 54-year-old woman who presented with acute neck swelling and pain with an overlying ecchymosis. Admission laboratory tests revealed a raised parathyroid hormone and hypercalcaemia. A computed tomography (CT) scan showed widespread anterior cervical haemorrhage and a lesion at the inferior pole of the left thyroid gland. A working diagnosis of spontaneous haemorrhage from a parathyroid adenoma was made. As she was haemodynamically stable, she was treated conservatively with a period of observation in hospital to monitor for signs of neck organ compression. Follow-up imaging with CT, ultrasound and sestamibi confirmed the likely source of haemorrhage as a parathyroid nodule with significant vascularity. The diagnosis was confirmed on histopathological analysis after elective surgical exploration of the neck 6 months after her presentation. This revealed a benign parathyroid adenoma with evidence of acute and chronic bleeding. The patient made a full recovery with immediate normalisation of her biochemistry post-operatively. Despite developing a hoarse voice in the immediate post-operative period, this resolved completely within 1 month. This case report provides further evidence to support a minimal delay for elective surgery after conservative management to reduce the risks associated with recurrent bleeding.

Learning points

  • Haemorrhage of a parathyroid adenoma should be a differential for all cases of acute cervical swelling or ecchymosis with no precipitating factor.

  • The clerking should identify any risk factors for endocrine disease.

  • Blood tests to screen for abnormal parathyroid biochemistry should be performed on admission.

  • Detailed imaging of the neck is essential to identify the source of haemorrhage and risk of compression to vital neck organs.

  • Conservative management is a suitable option for patients who remain haemodynamically stable but all should undergo a period of observation in hospital.

  • Conservatively managed patients should be considered for definitive surgical exploration within a month of presentation to avoid the risks of recurrent bleeding.

Open access

Katsumi Taki, Takahiko Kogai, Junko Sakumoto, Takashi Namatame, and Akira Hishinuma

Summary

A de novo heterozygous inactivating mutation of calcium-sensing receptor (CASR) gene typically causes neonatal hyperparathyroidism (NHPT) with moderate hypercalcemia and hyperparathyroid bone disease. We present a case of asymptomatic hypocalciuric hypercalcemia with a de novo heterozygous mutation in CASR, S591C, which is primarily reported to be responsible for NHPT. A 54-year-old female was referred for investigation of asymptomatic hypercalcemia that was initially found in the 1980s but without a history of bone disease during the perinatal period. She had moderate hypercalcemia (12.4 mg/dl) and relative hypocalciuria (fractional extraction of calcium 1.07%) but normal intact parathyroid hormone and serum 1,25-dihydroxyvitamin D3. Pedigree analysis revealed that she carried a de novo heterozygous mutation of S591C, which she transmitted to an affected child with moderate hypercalcemia but not to other children, who had normal serum calcium levels. A de novo heterozygous CASR mutation that is responsible for NHPT may also present in individuals with asymptomatic hypocalciuric hypercalcemia. Caution is required when predicting course and outcome in a pedigree with CASR mutation, as well as incidental hypercalcemia, because of its variable phenotypes.

Learning points

  • The phenotype and severity of CASR mutations are thought to be dependent on genotypes.

  • We report an asymptomatic case of the de novo heterozygous S591C mutation in CASR, which has previously been reported as a responsible mutation of NHPT with bone diseases.

  • Variable phenotypes of CASR raise a cautionary note about predicting outcome by genotyping in a pedigree with CASR mutation.

Open access

Jingjing Jiang, Mei Zhang, Ronghua He, Meiping Shen, and Wei Liu

Summary

Functional parathyroid cysts are a rare cause of primary hyperparathyroidism and are often mistaken for thyroid cysts. Systemic lupus erythematosus (SLE) is also a very rare cause of hypercalcemia. We report the case of a 62-year-old woman, who was diagnosed with SLE 30 years ago, presenting with clinical and biochemical features of primary hyperparathyroidism. Laboratory investigation revealed increased serum calcium and parathyroid hormone (PTH) levels; neck ultrasonography (USG) revealed 40×34×26 mm cystic mass in the left lobe of thyroid gland. PTH level in the cysts was >2500 pg/ml, determined by USG-guided fine-needle aspiration (FNA). In this case, no evidence for potential pathogenic association between parathyroid cyst and SLE was uncovered. However, the recognition of this association is very important because the therapeutical strategy is completely different. Operative management is usually straightforward and alleviates symptoms and any biochemical abnormalities caused by the cyst.

Learning points

  • Functional parathyroid cysts are the rare cause of primary hyperparathyroidism and are often mistaken for thyroid cysts.

  • SLE is also a very rare cause of hypercalcemia.

  • Ultrasound-guided FNA of cystic fluid with assay for PTH level is an accurate method of differentiating parathyroid cyst from thyroid cyst.

  • Appropriate management of functional parathyroid cysts is surgical excision.

Open access

Sachiko-Tsukamoto Kawashima, Takeshi Usui, Yohei Ueda, Maiko-Kakita Kobayashi, Mika Tsuiki, Kanako Tanase-Nakao, Kazutaka Nanba, Tetsuya Tagami, Mitsuhide Naruse, Yoshiki Watanabe, Ryo Asato, Sumiko Kato, and Akira Shimatsu

Summary

Parathyroid cystic adenomas are often misdiagnosed as thyroid cysts and routine preoperative diagnostic tools, such as ultrasonography (US) or 99m technetium-sestamibi (99mTc-MIBI) scans, cannot clearly distinguish between these entities. We present a 67-year-old hypercalcemic woman with a cervical cystic lesion who had negative sestamibi scan results. Her laboratory data indicated primary hyperparathyroidism (serum calcium concentration 14.0 mg/dl, phosphate concentration 2.3 mg/dl, and intact parathyroid hormone (PTH) concentration 239 pg/ml). The cervical US and computed tomography scans revealed a large and vertically long cystic mass (12×11×54 mm). A mass was located from the upper end of the left thyroid lobe to the submandibular region and was not clearly distinguishable from the thyroid. For preoperative definitive diagnosis, we carried out a parathyroid fine-needle aspiration (FNA) and PTH assay (PTH–FNA) of liquid aspirated from the cyst. The intact PTH–FNA concentration was 1.28×106 pg/ml, and the patient was diagnosed with primary hyperparathyroidism due to a cystic mass. She underwent a left upper parathyroidectomy and her serum calcium and intact PTH concentration immediately decreased to normal levels. This report describes the usefulness of PTH–FNA for localizing and differentiating an atypical functional parathyroid lesion from nonfunctional tissue in primary hyperparathyroidism.

Learning points

  • Cystic parathyroid lesions, even in the case of elevated PTH levels, can produce negative results in 99mTc-MIBI scans.

  • Preoperative diagnosis of parathyroid cysts detectable on US is possible by parathyroid FNA and PTH assay (PTH–FNA) of liquid aspirated from the cyst, if malignancy is not suspected.

  • PTH–FNA could be helpful in the differential diagnosis of an equivocal cervical tumor.

Open access

K Nadarasa, M Bailey, H Chahal, O Raja, R Bhat, C Gayle, A B Grossman, and M R Druce

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.