Diagnosis and Treatment > Intervention > Parathyroidectomy

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Cheuk-Lik Wong Department of Medicine and Geriatrics, Caritas Medical Centre, Shamshuipo, Kowloon, Hong Kong SAR

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Chun-Kit Fok Department of Medicine and Geriatrics, Caritas Medical Centre, Shamshuipo, Kowloon, Hong Kong SAR

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Vicki Ho-Kee Tam Department of Medicine and Geriatrics, Caritas Medical Centre, Shamshuipo, Kowloon, Hong Kong SAR

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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.

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Carine Ghassan Richa Rafic Hariri University Hospital, Beirut, Lebanon
Department of Medicine, Endocrinology Division, Lebanese University, Hadath, Lebanon
Endocrinology Department, Rafic Hariri University Hospital, Beirut, Lebanon

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Khadija Jamal Saad Rafic Hariri University Hospital, Beirut, Lebanon
Department of Medicine, Endocrinology Division, Lebanese University, Hadath, Lebanon
Endocrinology Department, Mount Lebanon Hospital, Beirut, Lebanon

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Ali Khaled Chaaban Rafic Hariri University Hospital, Beirut, Lebanon
Department of Radiology, Beirut Governmental University Hospital, Beirut, Lebanon
Diagnostic Radiology, Radiology Department

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Mohamad Souheil El Rawas Rafic Hariri University Hospital, Beirut, Lebanon
Department of Medicine, Endocrinology Division, Lebanese University, Hadath, Lebanon
Clinical Endocrinology, Endocrinology Department, Rafic Hariri University Hospital, Beirut, Lebanon

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Summary

The objective of the study is to report a case of acute pancreatitis secondary to hypercalcemia induced by primary hyperparathyroidism in a pregnant woman at the end of the first trimester. The case included a 32-year-old woman who was diagnosed with acute pancreatitis and severe hypercalcemia refractory to many regimens of medical therapy in the first trimester of pregnancy. She was successfully treated with parathyroidectomy in the early second trimester with complete resolution of hypercalcemia and pancreatitis. Neonatal course was unremarkable. To our best knowledge, this is a rare case when primary hyperparathyroidism and its complications are diagnosed in the first trimester of pregnancy. In conclusion, primary hyperparathyroidism is a rare life-threatening condition to the fetus and mother especially when associated with complications such as pancreatitis. Early therapeutic intervention is important to reduce the morbidity and mortality. Parathyroidectomy performed in the second trimester can be the only solution.

Learning points:

  • Learning how to make diagnosis of primary hyperparathyroidism in a woman during the first trimester of pregnancy.

  • Understanding the complications of hypercalcemia and be aware of the high mortality and sequelae in both fetus and mother.

  • Providing the adequate treatment in such complicated cases with coordinated care between endocrinologists and obstetricians to ensure optimal outcomes.

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Caroline Bachmeier Endocrinology Department, Townsville Hospital, Townsville, Queensland, Australia

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Chirag Patel Genetic Health Queensland, Royal Brisbane and Women’s Hospital, Herston, Queensland, Australia

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Peter Kanowski Clinical Pathology/Histopathology, Sullivan Nicolaides Pathology, Townsville, Queensland, Australia

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Kunwarjit Sangla Endocrinology Department, Townsville Hospital, Townsville, Queensland, Australia
James Cook University, Townsville, Queensland, Australia

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Summary

Primary hyperparathyroidism (PH) is a common endocrine abnormality and may occur as part of a genetic syndrome. Inactivating mutations of the tumour suppressor gene CDC73 have been identified as accounting for a large percentage of hyperparathyroidism-jaw tumour syndrome (HPT-JT) cases and to a lesser degree account for familial isolated hyperparathyroidism (FIHP) cases. Reports of CDC73 whole gene deletions are exceedingly rare. We report the case of a 39 year-old woman with PH secondary to a parathyroid adenoma associated with a large chromosomal deletion (2.5 Mb) encompassing the entire CDC73 gene detected years after parathyroidectomy. This case highlights the necessity to screen young patients with hyperparathyroidism for an underlying genetic aetiology. It also demonstrates that molecular testing for this disorder should contain techniques that can detect large deletions.

Learning points:

  • Necessity of genetic screening for young people with hyperparathyroidism.

  • Importance of screening for large, including whole gene CDC73 deletions.

  • Surveillance for patients with CDC73 gene mutations includes regular calcium and parathyroid hormone levels, dental assessments and imaging for uterine and renal tumours.

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Marina Tsoli Department of Pathophysiology, National and Kapodistrian University of Athens, Athens, Greece

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Anna Angelousi Department of Pathophysiology, National and Kapodistrian University of Athens, Athens, Greece

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Dimitra Rontogianni Department of Histopathology, Evagelismos General Hospital, Athens, Greece

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Constantine Stratakis Section on Endocrinology and Genetics, Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA

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Gregory Kaltsas Department of Pathophysiology, National and Kapodistrian University of Athens, Athens, Greece

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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.

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Yasutaka Takeda Division of Metabolism and Biosystemic Science, Department of Internal Medicine, Asahikawa Medical University, Asahikawa, Japan

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Yukihiro Fujita Division of Metabolism and Biosystemic Science, Department of Internal Medicine, Asahikawa Medical University, Asahikawa, Japan

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Kentaro Sakai Division of Metabolism and Biosystemic Science, Department of Internal Medicine, Asahikawa Medical University, Asahikawa, Japan

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Tomoe Abe Division of Metabolism and Biosystemic Science, Department of Internal Medicine, Asahikawa Medical University, Asahikawa, Japan

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Tomonobu Nakamura Division of Metabolism and Biosystemic Science, Department of Internal Medicine, Asahikawa Medical University, Asahikawa, Japan

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Tsuyoshi Yanagimachi Division of Metabolism and Biosystemic Science, Department of Internal Medicine, Asahikawa Medical University, Asahikawa, Japan

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Hidemitsu Sakagami Division of Metabolism and Biosystemic Science, Department of Internal Medicine, Asahikawa Medical University, Asahikawa, Japan

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Jun Honjo Division of Metabolism and Biosystemic Science, Department of Internal Medicine, Asahikawa Medical University, Asahikawa, Japan

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Atsuko Abiko Division of Metabolism and Biosystemic Science, Department of Internal Medicine, Asahikawa Medical University, Asahikawa, Japan

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Yuichi Makino Division of Metabolism and Biosystemic Science, Department of Internal Medicine, Asahikawa Medical University, Asahikawa, Japan

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Masakazu Haneda Division of Metabolism and Biosystemic Science, Department of Internal Medicine, Asahikawa Medical University, Asahikawa, Japan

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Summary

MEN1-associated pancreatic neuroendocrine tumors (pNETs) may potentially express distinct hormones, but the mechanism has not been elucidated. Transcription factors such as MafA and Pdx1 have been identified to lead to beta cell differentiation, while Arx and Brn4 to alpha cell differentiation in developing pancreas. We hypothesized those transcription factors are important to produce specific hormones in pNETs, similarly to developing pancreas, and examined the expression of transcription factors in a case of MEN1 who showed immunohistological coexistence of several hormone-producing pNETs including insulinoma. A 70-year-old woman was found to manifest hypoglycemia with non-suppressed insulinemia and hypercalcemia with elevated PTH level. She was diagnosed as MEN1 based on the manifestation of primary hyperparathyroidism, pituitary adenoma and insulinoma, with genetic variation of MEN1 gene. She had pylorus-preserving pancreaticoduodenectomy because CT scan and SACI test indicated that insulinoma was localized in the head of the pancreas. Histopathological finding was MEN1-associated NET, G1. Interestingly, immunohistological examination of the resected pancreas revealed that two insulinomas, a glucagon-positive NET and a multiple hormone-positive NET coexisted. Hence, we examined the expression of transcription factors immunohistochemically to elucidate the role of the transcription factors in MEN1-associated hormone-producing pNETs. We observed homogeneous expressions of MafA and Pdx1 in insulinomas and Arx in glucagon-positive NET, respectively. Moreover, multiple hormone-positive NETs expressed several transcription factors heterogeneously. Collectively, our results suggested that transcription factors could play important roles in the production of specific hormones in MEN1-associated pNETs, similar to islet differentiation.

Learning points:

  • To date, it has been shown that different hormone-producing tumors coexist in MEN1-associated pNETs; however, the underlying mechanism of the hormone production in MEN1-associated pNETs has not been well elucidated.

  • Although this case presented symptomatic hypoglycemia, several hormone-producing pNETs other than insulinoma also coexisted in the pancreas.

  • Immunohistochemical analysis showed MafA and Pdx1 expressions distinctly in insulinoma, and Arx expression particularly in a glucagon-positive NET, while a multiple hormone-positive NET expressed MafA, Pdx1 and Arx.

  • Collectively, clinicians should consider that several hormone-producing pNETs may coexist in a MEN1 case and examine both endocrinological and histopathological analysis of pNETs, regardless of whether symptoms related to the excess of hormones are observed or not.

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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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Shinsuke Uraki The 1st Department of Internal Medicine, Wakayama Medical University, Wakayama, Japan

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Hiroyuki Ariyasu The 1st Department of Internal Medicine, Wakayama Medical University, Wakayama, Japan

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Asako Doi The 1st Department of Internal Medicine, Wakayama Medical University, Wakayama, Japan

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Hiroto Furuta The 1st Department of Internal Medicine, Wakayama Medical University, Wakayama, Japan

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Masahiro Nishi The 1st Department of Internal Medicine, Wakayama Medical University, Wakayama, Japan

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Takeshi Usui Department of Medical Genetics, Shizuoka General Hospital, Shizuoka City, Japan

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Hiroki Yamaue The 2nd Department of Surgery, Wakayama Medical University, Wakayama, Japan

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Takashi Akamizu The 1st Department of Internal Medicine, Wakayama Medical University, Wakayama, Japan

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Summary

A 54-year-old man had gastrinoma, parathyroid hyperplasia and pituitary tumor. His family history indicated that he might have multiple endocrine neoplasia type 1 (MEN1). MEN1 gene analysis revealed a heterozygous germline mutation (Gly156Arg). Therefore, we diagnosed him with MEN1. Endocrinological tests revealed that his serum prolactin (PRL) and plasma adrenocorticotropic hormone (ACTH) levels were elevated to 1699 ng/mL and 125 pg/mL respectively. Immunohistochemical analysis of the resected pancreatic tumors revealed that the tumors did not express ACTH. Overnight 0.5 and 8 mg dexamethasone suppression tests indicated that his pituitary tumor was a PRL-ACTH-producing plurihormonal tumor. Before transsphenoidal surgery, cabergoline was initiated. Despite no decrease in the volume of the pituitary tumor, PRL and ACTH levels decreased to 37.8 ng/mL and 57.6 pg/mL respectively. Owing to the emergence of metastatic gastrinoma in the liver, octreotide was initiated. After that, PRL and ACTH levels further decreased to 5.1 ng/mL and 19.7 pg/mL respectively. He died from liver dysfunction, and an autopsy of the pituitary tumor was performed. In the autopsy study, histopathological and immunohistochemical (IHC) analysis showed that the tumor was single adenoma and the cells were positive for ACTH, growth hormone (GH), luteinizing hormone (LH) and PRL. RT-PCR analysis showed that the tumor expressed mRNA encoding all anterior pituitary hormones, pituitary transcription factor excluding estrogen receptor (ER) β, somatostatin receptor (SSTR) 2, SSTR5 and dopamine receptor D (D2R). PRL-ACTH-producing tumor is a very rare type of pituitary tumor, and treatment with cabergoline and octreotide may be useful for controlling hormone levels secreted from a plurihormonal pituitary adenoma, as seen in this case of MEN1.

Learning points:

  • Although plurihormonal pituitary adenomas were reported to be more frequent in patients with MEN1 than in those without, the combination of PRL and ACTH is rare.

  • RT-PCR analysis showed that the pituitary tumor expressed various pituitary transcription factors and IHC analysis revealed that the tumor was positive for PRL, ACTH, GH and LH.

  • Generally, the effectiveness of dopamine agonist and somatostatin analog in corticotroph adenomas is low; however, if the plurihormonal pituitary adenoma producing ACTH expresses SSTR2, SSTR5 and D2R, medical therapy for the pituitary adenoma may be effective.

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Anna Casteràs Department of Endocrinology

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Lídia Darder Department of Maxilofacial Surgery

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Carles Zafon Department of Endocrinology

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Juan Antonio Hueto Department of Maxilofacial Surgery

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Margarita Alberola Department of Endocrine Surgery, University Hospital Vall d’Hebron, Barcelona, Spain

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Enric Caubet Department of Pathology

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Jordi Mesa Department of Endocrinology

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Summary

Skeletal manifestations of primary hyperparathyroidism (pHPT) include brown tumors (BT), which are osteoclastic focal lesions often localized in the jaws. Brown tumors are a rare manifestation of pHTP in Europe and USA; however, they are frequent in developing countries, probably related to vitamin D deficiency and longer duration and severity of disease. In the majority of cases, the removal of the parathyroid adenoma is enough for the bone to remineralize, but other cases require surgery. Hyperparathyroidism in MEN1 develops early, and is multiglandular and the timing of surgery remains questionable. To our knowledge, there are no reports of BT in MEN 1 patients. We present a 29-year-old woman with MEN 1 who developed a brown tumor of the jaw 24 months after getting pregnant, while breastfeeding. Serum corrected calcium remained under 2.7 during gestation, and at that point reached a maximum of 2.82 mmol/L. Concomitant PTH was 196 pg/mL, vitamin D 13.7 ng/mL and alkaline phosphatase 150 IU/L. Bone mineral density showed osteopenia on spine and femoral neck (both T-scores = −1.6). Total parathyroidectomy was performed within two weeks, with a failed glandular graft autotransplantation, leading to permanent hypoparathyroidism. Two months after removal of parathyroid glands, the jaw tumor did not shrink; thus, finally it was successfully excised. We hypothesize that higher vitamin D and mineral requirements during maternity may have triggered an accelerated bone resorption followed by appearance of the jaw BT. We suggest to treat pHPT before planning a pregnancy in MEN1 women or otherwise supplement with vitamin D, although this approach may precipitate severe hypercalcemia.

Learning points:

  • Brown tumors of the jaw can develop in MEN 1 patients with primary hyperparathyroidism at a young age (less than 30 years).

  • Pregnancy and lactation might trigger brown tumors by increasing mineral and vitamin D requirements.

  • Early parathyroidectomy is advisable in MEN 1 patients with primary hyperparathyroidism, at least before planning a pregnancy.

  • Standard bone mineral density does not correlate with the risk of appearance of a brown tumor.

  • Removal of parathyroid glands does not always lead to the shrinkage of the brown tumor, and surgical excision may be necessary.

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Elizabeth M Madill Department of Endocrinology and Diabetes, The Alfred Hospital, Melbourne, Victoria, Australia

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Shamil D Cooray Department of Endocrinology and Diabetes, The Alfred Hospital, Melbourne, Victoria, Australia

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Leon A Bach Department of Endocrinology and Diabetes, The Alfred Hospital, Melbourne, Victoria, Australia
Department of Medicine (Alfred), Monash University, Melbourne, Victoria, Australia

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Summary

Thyrotoxicosis is an under-recognised but clinically important complication of parathyroidectomy. We report a case of a 37-year-old man with tertiary hyperparathyroidism who initially developed unexplained anxiety, diaphoresis, tachycardia, tremor and hyperreflexia one day after subtotal parathyroidectomy. Thyroid biochemistry revealed suppressed thyroid stimulating hormone and elevated serum free T4 and free T3 levels. Technetium-99m scintigraphy scan confirmed diffusely decreased radiotracer uptake consistent with thyroiditis. The patient was diagnosed with thyrotoxicosis resulting from palpation thyroiditis. Administration of oral beta-adrenergic antagonists alleviated his symptoms and there was biochemical evidence of resolution fourteen days later. This case illustrates the need to counsel patients about thyroiditis as one of the potential risks of parathyroid surgery. It also emphasises the need for biochemical surveillance in patients with unexplained symptoms in the post-operative period and may help to minimise further invasive investigations for diagnostic clarification.

Learning points

  • Thyroiditis as a complication of parathyroidectomy surgery is uncommon but represents an under-recognised phenomenon.

  • It is thought to occur due to mechanical damage of thyroid follicles by vigorous palpation.

  • Palpation of the thyroid gland may impair the physical integrity of the follicular basement membrane, with consequent development of an inflammatory response.

  • The majority of patients are asymptomatic, however clinically significant thyrotoxicosis occurs in a minority.

  • Patients should be advised of thyroiditis/thyrotoxicosis as a potential complication of the procedure.

  • Testing of thyroid function should be performed if clinically indicated, particularly if adrenergic symptoms occur post-operatively with no other cause identified.

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Jerena Manoharan Department of Visceral Thoracic and Vascular Surgery, Philipps University Marburg, Baldingerstrasse35043, Marburg, Germany

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Caroline L Lopez Department of Visceral Thoracic and Vascular Surgery, Philipps University Marburg, Baldingerstrasse35043, Marburg, Germany

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Karl Hackmann Faculty of Medicine Carl Gustav Carus, Institute for Clinical Genetics, TU Dresden, Fetscherstrasse 7401307, Dresden, Germany
German Cancer Consortium (DKTK), Dresden, Germany, German Cancer Research Center (DKFZ), Heidelberg, Germany, National Center for Tumor Diseases (NCT), Dresden, Germany

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Max B Albers Department of Visceral Thoracic and Vascular Surgery, Philipps University Marburg, Baldingerstrasse35043, Marburg, Germany

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Anika Pehl Department of Pathology, Philipps University Marburg, Baldingerstrasse35043, Marburg, Germany

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Peter H Kann Division of Endocrinology and Diabetology, Department of Gastroenterology and Endocrinology, Philipps University Marburg, Baldingerstrasse35043, Marburg, Germany

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Emily P Slater Department of Visceral Thoracic and Vascular Surgery, Philipps University Marburg, Baldingerstrasse35043, Marburg, Germany

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Evelin Schröck Faculty of Medicine Carl Gustav Carus, Institute for Clinical Genetics, TU Dresden, Fetscherstrasse 7401307, Dresden, Germany
German Cancer Consortium (DKTK), Dresden, Germany, German Cancer Research Center (DKFZ), Heidelberg, Germany, National Center for Tumor Diseases (NCT), Dresden, Germany

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Detlef K Bartsch Department of Visceral Thoracic and Vascular Surgery, Philipps University Marburg, Baldingerstrasse35043, Marburg, Germany

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Summary

We report about a young female who developed an unusual and an aggressive phenotype of the MEN1 syndrome characterized by the development of a pHPT, malignant non-functioning pancreatic and duodenal neuroendocrine neoplasias, a pituitary adenoma, a non-functioning adrenal adenoma and also a malignant jejunal NET at the age of 37 years. Initial Sanger sequencing could not detect a germline mutation of the MEN1 gene, but next generation sequencing and MPLA revealed a deletion of the MEN1 gene ranging between 7.6 and 25.9 kb. Small intestine neuroendocrine neoplasias (SI-NENs) are currently not considered to be a part of the phenotype of the MEN1-syndrome. In our patient the SI-NENs were detected during follow-up imaging on Ga68-Dotatoc PET/CT and could be completely resected. Although SI-NENs are extremely rare, these tumors should also be considered in MEN1 patients. Whether an aggressive phenotype or the occurrence of SI-NENs in MEN1 are more likely associated with large deletions of the gene warrants further investigation.

Learning points

  • Our patient presents an extraordinary course of disease.

  • Although SI-NENs are extremely rare, these tumors should also be considered in MEN1 patients, besides the typical MEN1 associated tumors.

  • This case reports indicate that in some cases conventional mutation analysis of MEN1 patients should be supplemented by the search for larger gene deletions with modern techniques, if no germline mutation could be identified by Sanger sequencing.

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