Primary hyperparathyroidism-Jaw tumor syndrome: a confusing and forgotten diagnosis

Background. Primary hyperparathyroidism is caused by the excessive growth of parathormone secretion, its consequence being hypercalcemia. The parathyroid adenoma is responsible for over half of primary hyperparathyroidism cases. The mandibular tumor can be the initial sign in the case of primary hyperparathyroidism.Case presentation. We present the case of a 33 year old patient with history of a mandibular operated tumor, repetitive pathological fractures and hypercalcemia manifestations. The level of the parathormone at the first measurement indicated a very high value. The parathyroid scintigraphy with 99mTc-MIBI (methoxy-isobutyl-isonitrile) evidenced a high uptake of the tracerin the superior mediastinum, suggestive for an ectopic parathyroid adenoma. The histopathological examination after surgery leads to the diagnosis of parathyroid adenoma. The association between the primary hyperparathyroidism, the mandibular tumour, the clinical history and the nuclear imaging lead to the diagnosis of primary hyperparathyroidism – Jaw tumor syndrome.Conclusion. The hyperparathyroidism-Jaw tumor syndrome has a special clinical importance because of the severe and progressive symptomatology, and because of the risk of developing neoplasia of parathyroid glands, which have a reserved prognosis.

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Autoinfarction of Giant Parathyroid Adenoma after Preoperative Withdrawal of Anticoagulants

Case Reports in Surgery ◽

10.1155/2018/9261749 ◽

2018 ◽

Vol 2018 ◽

pp. 1-5

Author(s):

Raoul Verzijl ◽

Pim J. Bongers ◽

Geetha Mukerji ◽

Ozgur Mete ◽

Karen M. Devon ◽

...

Keyword(s):

Parathyroid Adenoma ◽

Elective Surgery ◽

Histopathological Examination ◽

Neck Mass ◽

Bone Lesions ◽

Imaging Studies ◽

Cystic Change ◽

Parathyroid Adenomas ◽

History Of ◽

Brown Tumors

A 71-year-old man with known history of atrial fibrillation (treated with routine rivaroxaban therapy) was found to have incidental biochemical elevated calcium and parathyroid hormone (PTH) levels. His physical examination demonstrated the presence of a palpable right neck mass. Subsequent imaging studies revealed a large parathyroid mass as well as multiple bone lesions, raising the suspicion of parathyroid carcinoma. The anticoagulant therapy was stopped 5 days prior to his elective surgery. The night before his elective surgery, he presented to the emergency room with profound hypocalcemia. The surgery was postponed and rescheduled after calcium correction. Intraoperative findings and detailed histopathological examination revealed an infarcted 4.0 cm parathyroid adenoma with cystic change. His bony changes were related to brown tumors associated with long-standing hyperparathyroidism. Autoinfarction of a large parathyroid adenoma causing severe hypocalcemia is a rare phenomenon and may be considered in patients with large parathyroid adenomas after withdrawal of anticoagulants.

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SAT-353 Familial Hyperparathyroidism - Due to a Rare Genetic Mutation

Journal of the Endocrine Society ◽

10.1210/jendso/bvaa046.470 ◽

2020 ◽

Vol 4 (Supplement_1) ◽

Author(s):

Adeyinka Taiwo ◽

Joseph Stephen Dillon ◽

Jennifer Stinson

Keyword(s):

Family History ◽

Primary Hyperparathyroidism ◽

Parathyroid Adenoma ◽

Gene Mutation ◽

Parathyroid Tissue ◽

Clinical Manifestations ◽

Young Age ◽

Parathyroid Cancer ◽

History Of ◽

Familial Hyperparathyroidism

Abstract Introduction: Hyperparathyroidism occurs most commonly in middle age patients, predominantly in women. It can be caused by parathyroid adenoma, hyperplasia or parathyroid carcinoma. Genetic predisposition can be found in about 10% of primary hyperparathyroidism due to certain gene mutations. This case emphasizes the importance of taking a detailed family history when patients present with hyperparathyroidism at a young age, so that familial hyperparathyroidism, if present, can be detected and relatives screened. Clinical case: A 26 y.o. male presented with symptoms of fatigue and polydipsia for several years. He was noted to have a serum calcium of 12.4 mg/dL(8.5–10.5), with parathyroid hormone of 213 pg/ml (15–65). He denied any history of kidney stones, fractures and no palpable neck masses. The patient’s family history was significant for his paternal half-sister who had parathyroidectomy for hyperparathyroidism at 20yrs old and paternal grandmother died of parathyroid cancer in her 50s. The patient’s father died of pancreatic cancer at 41yrs old. A neck ultrasound revealed a mass posterior to the left inferior thyroid. A Sestamibi parathyroid scan revealed a parathyroid adenoma at the posteroinferior aspect of the left hemithyroid. Labs for free metanephrines and normetanephrine, prolactin and gastrin levels were all normal. Due to his young age and the possibility of having familial hyperparathyroidism, he underwent bilateral neck exploration and parathyroidectomy, with removal of his left inferior, right superior, left superior parathyroid glands and left upper thymus. Surgical pathology revealed, hypercellular parathyroid tissue. Post operatively, his calcium and vitamin D remained within the normal range. Genetic studies revealed a mutation in the parafibromin gene - CDC73 (also called HRPT2), a tumor suppressor gene, which is on chromosome 1q25. The patient currently has 6 children ranging from age 5 months to 6 years. He was advised to have his children tested any time from age 7 years for the gene mutation. The patient has remained stable 4yrs post operatively, with normal calcium and PTH levels. He does not have any history of jaw tumor. He never had an ultrasound kidney done. He is being monitored with yearly lab tests. Conclusion: CDC73 gene mutation-associated disorders are inherited as an autosomal dominant fashion, with variable penetrance. This gene mutation can be found in conditions such as hyperparathyroidism jaw tumor, familial hyperparathyroidism and parathyroid cancer. Reference: 1. CDC73-Related Disorders: Clinical Manifestations and Case Detection in Primary Hyperparathyroidism. J Clin Endocrinol Metab. 2017 Dec 1;102(12):4534–4540.

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Konversion eines postoperativen Hypoparathyreoidismus in einen Hyperparathyreoidismus bei ektopem Nebenschilddrüsenadenom

Nuklearmedizin ◽

10.1055/a-0914-2451 ◽

2019 ◽

Vol 58 (04) ◽

pp. 333-336

Author(s):

K. H. Davis ◽

C. Happel ◽

R. du Mesnil de Rochemont ◽

T. J. Vogl ◽

F. Grünwald

Keyword(s):

Thyroid Cancer ◽

Parathyroid Hormone ◽

Primary Hyperparathyroidism ◽

Parathyroid Adenoma ◽

Imaging Modalities ◽

Hormone Levels ◽

History Of ◽

Childhood Medulloblastoma ◽

Vein Catheterization

AbstractWe present a patient with a history of thyroid cancer, presumably following radiochemotherapy of a childhood medulloblastoma, who developed a primary hyperparathyroidism 10 years after long-term postsurgical hypoparathyroidism. All established imaging modalities failed to detect the origin and only selective neck sampling could identify the suspected parathyroid adenoma causing hyperparathyroidism. This encourages the use of selective neck vein catheterization, particularly in patients with only slightly elevated parathyroid hormone-levels or suspected small ectopic adenoma.

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RE-OPERATIVE SURGERY FOR RECURRENT PRIMARY HYPERPARATHYROIDISM ASSOCIATED WITH OLIGOMENORRHEA

Journal of Surgical Sciences ◽

10.33695/jss.v2i3.124 ◽

2015 ◽

Vol 2 (3) ◽

pp. 140-143

Author(s):

Ana Valea ◽

V. Muntean ◽

Andra Morar ◽

Mara Carsote ◽

Cristina Căpățînă ◽

...

Keyword(s):

Primary Hyperparathyroidism ◽

Parathyroid Adenoma ◽

Female Patient ◽

Clinical Symptoms ◽

Major Incident ◽

Operative Surgery ◽

Parathyroid Adenomas ◽

History Of ◽

Normal Calcium

Recurrent primary hyperparathyroidism is characterized by typical symptoms and biochemical recurrence of hypercalcemia after more than 6 months of normal calcium levels after surgery. We report the case of a 39-year-old female patient presenting with menses disturbances who was diagnosed with primary hyperparathyroidism caused by a left inferior parathyroid adenoma at the age of 35. Postoperative 6-month follow-up showed normalization of biochemical and hormonal profiles, with significant improvement of clinical symptoms, dominated by muscle weakness, weight loss and oligomenorrhea. The 18-month follow-up showed elevated PTH and serum calcium levels. Imaging confirmed recurrence of primary hyperparathyroidism by highlighting a right upper parathyroid adenoma. Surgery was performed again and no major incident was seen. The particularity of this case consists in the recurrence of primary hyperparathyroidism in a young patient with no family history of the disease due to asynchronous parathyroid adenomas that were successfully removed in a female patient who in addition to classic complications such as calyceal microlithiasis and osteoporosis presented oligomenorrhea which was resolved spontaneously after the correction of hypercalcemia.

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MON-115 Inappropriate Ordering of Parathyroid Scintigraphy in an Academic Medical Center

Journal of the Endocrine Society ◽

10.1210/jendso/bvaa046.550 ◽

2020 ◽

Vol 4 (Supplement_1) ◽

Author(s):

Brad Kimura ◽

Jodi Nagelberg ◽

Sonya Koo ◽

Karen Clare McCowen

Keyword(s):

Primary Hyperparathyroidism ◽

Secondary Hyperparathyroidism ◽

Parathyroid Adenoma ◽

Medical Center ◽

Financial Burden ◽

Academic Medical Center ◽

Nuclear Imaging ◽

Hospital Charges ◽

Parathyroid Scintigraphy ◽

Planar Imaging

Abstract Introduction: The diagnosis of primary hyperparathyroidism is a biochemical, not radiologic one. Unfortunately, many practitioners even in academic centers order parathyroid scintigraphy to “confirm a diagnosis of adenoma” or distinguish primary from secondary hyperparathyroidism. Knowing the location of single or multiple parathyroid adenomas is unnecessary unless parathyroidectomy is planned. The financial burden of nuclear imaging is substantial. The goals of this study were to determine the proportion of inappropriately ordered parathyroid scans and the cost to the health care system. Methods: We generated a database of patients who had consulted with at least one physician at our institution and underwent parathyroid scan between December 2012 and December 2017. We focused on the subset that did not undergo parathyroidectomy. “Slicer dicer” software in our EMR was used to generate the database. Chart review extracted data on diagnoses and reasons for parathyroid scintigraphy. Results: Over 5 years, a total of 325 parathyroid scans were performed. 171 of these did not have parathyroidectomy in our system. However, 18 underwent surgery elsewhere leaving 153 that received parathyroid scans but no surgery (47% of the total). Of the 91 cases so far analyzed of the 153 in our database, average age is 64, with 28 males and 63 females. 61 of the 91 scans (67%) were performed to confirm the diagnosis of parathyroid adenoma; 3 performed because of possible parathyroid adenoma seen on other imaging; and 24 (26%) were done supposedly to localize the adenoma for surgery. Ordering physicians were from primary care (41%), endocrinology (26%), nephrology (18%), and surgery (10%). Final diagnoses for these 91 patients were true primary hyperparathyroidism in 37 (41%), secondary hyperparathyroidism in 38 (42%), unclear in 10 and FHH in 4. In the primary hyperparathyroidism group, 19/37 met criteria for consideration of parathyroidectomy, but only 5/19 received surgical consultation. These 5 patients either refused surgery or surgeon decided against, usually because of high surgical risk. Conclusion: 47% of parathyroid scans at an academic institution were performed in patients who did not undergo parathyroidectomy. Many parathyroid scans were ordered inappropriately to “confirm” a diagnosis of primary hyperparathyroidism, leading to unnecessary charges and resource waste. Physician charges for sestamibi scans range from $237-$1942, depending on whether planar imaging, SPECT, or SPECT-CT is used; hospital charges are $1165-$3211. We propose to change the ordering system for parathyroid imaging to clarify that this is not a method to diagnose parathyroid adenoma, rather a tool to optimize surgical planning when the diagnosis is secure.

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Association of Equine Herpesvirus 5 with Mild Respiratory Disease in a Survey of EHV1, -2, -4 and -5 in 407 Australian Horses

Animals ◽

10.3390/ani11123418 ◽

2021 ◽

Vol 11 (12) ◽

pp. 3418

Author(s):

Charles El-Hage ◽

Zelalem Mekuria ◽

Kemperly Dynon ◽

Carol Hartley ◽

Kristin McBride ◽

...

Keyword(s):

Respiratory Disease ◽

Quantitative Difference ◽

Clinical Signs ◽

Clinical Importance ◽

Clinical History ◽

Respiratory Pathogens ◽

Equine Influenza ◽

Influenza Outbreak ◽

Clinically Normal ◽

History Of

Equine herpesviruses (EHVs) are common respiratory pathogens in horses; whilst the alphaherpesviruses are better understood, the clinical importance of the gammaherpesviruses remains undetermined. This study aimed to determine the prevalence of, and any association between, equine respiratory herpesviruses EHV1, -2, -4 and -5 infection in horses with and without clinical signs of respiratory disease. Nasal swabs were collected from 407 horses in Victoria and included clinically normal horses that had been screened for regulatory purposes. Samples were collected from horses during Australia’s equine influenza outbreak in 2007; however, horses in Victoria required testing for proof of freedom from EIV. All horses tested in Victoria were negative for EIV, hence archived swabs were available to screen for other pathogens such as EHVs. Quantitative PCR techniques were used to detect EHVs. Of the 407 horses sampled, 249 (61%) were clinically normal, 120 (29%) presented with clinical signs consistent with mild respiratory disease and 38 (9%) horses had an unknown clinical history. Of the three horses detected shedding EHV1, and the five shedding EHV4, only one was noted to have clinical signs referable to respiratory disease. The proportion of EHV5-infected horses in the diseased group (85/120, 70.8%) was significantly greater than those not showing signs of disease (137/249, 55%). The odds of EHV5-positive horses demonstrating clinical signs of respiratory disease were twice that of EHV5-negative horses (OR 1.98, 95% CI 1.25 to 3.16). No quantitative difference between mean loads of EHV shedding between diseased and non-diseased horses was detected. The clinical significance of respiratory gammaherpesvirus infections in horses remains to be determined; however, this survey adds to the mounting body of evidence associating EHV5 with equine respiratory disease.

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Escisión transcervical de un adenoma paratiroideo mediastínico gigante

Studies in the Economic History of Southern Africa ◽

10.22201/fm.24484865e.2021.64.2.06 ◽

2021 ◽

Vol 64 (2) ◽

pp. 38-45

Author(s):

Isaías Adrián Barrientos López ◽

◽

Bertha Beatriz Castillo Ventura ◽

Keyword(s):

Primary Hyperparathyroidism ◽

Parathyroid Adenoma ◽

Thyroid Lobe ◽

Selective Treatment ◽

Case Presentation ◽

Parathyroid Adenomas ◽

History Of ◽

Thyroid Profile ◽

The Right ◽

Similar Location

Primary hyperparathyroidism (HPTP) is the third most common neuroendocrine disorder, its main cause is parathyroid adenoma. Within the classification, those adenomas that weigh more than 3.5 g are classified as giant parathyroid adenomas (APG), and are associated with a worse evolution and malignancy. The purpose of this article is to present our diagnostic and therapeutic approach of a patient with HPTP ssociated with a mediastinal APG. A search in the international literature of the last 10 years revealed that only 8 other centers ha ve reported the extraction of an APG of similardimensions to ours and in a similar location. Case presentation: A 66-year-old woman with a history of multinodular goiter, thyroid profile and parathormone (PTH) measurement were requested, with a report of 350.60 pg/mL. A thyroid/parathyroid scintigraphy was performed with 99mTc sestaMIBI which reported persistence of a focal area of the concentration located in the topography of the lower pole of the right thyroid lobe. This study was complemented with SPECT-CT, which reported an image of hyperfunctioning right inferior parathyroid compatible with adenoma and the patient was diagnosed with PTH. Finally, resection was performed, obtaining a tumor measuring 7.0 × 4.5 × 2.0 cm, with a weight of 24.5 g. Conclusions: Our case highlights the use of imaging studies to facilitate localization and achieve diagnosis together with clinical presentation and biochemical profile. Selective treatment was achieved safely through a minimally invasive transcervical technique, combined with the measurement of PTH. Keywords: Parathyroid adenoma; neoplasia; hypercalcemia; primary hyperparathyroidism; case report.

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Primary hyperparathyroidism

Oxford Textbook of Endocrinology and Diabetes ◽

10.1093/med/9780199235292.003.0419 ◽

2011 ◽

pp. 653-664 ◽

Cited By ~ 2

Author(s):

Shonni J. Silverberg ◽

John P. Bilezikian

Keyword(s):

Primary Hyperparathyroidism ◽

Multiple Endocrine Neoplasia ◽

Superior Mediastinum ◽

Parathyroid Adenomas ◽

Neck Irradiation ◽

History Of ◽

Anatomic Locations ◽

Salt And Pepper ◽

Asymptomatic Disease ◽

Single Versus

Primary hyperparathyroidism is no longer the severe disorder of ‘stones, bones, and groans’ described by Fuller Albright and others in the 1930s (1,2). Osteitis fibrosa cystica, with its brown tumours of the long bones, subperiosteal bone resorption, distal tapering of the clavicles and phalanges, and ‘salt-and-pepper’ appearance of erosions of the skull on radiograph is rare, and kidney stones are seen in only 20% of patients. Asymptomatic disease is the rule in the vast majority of patients, with the diagnosis commonly following the finding of hypercalcaemia on routine serum chemistry analysis (Table 4.3.1) (3–5). Primary hyperparathyroidism is due to a solitary parathyroid adenoma in 80% of patients (5). Most cases are sporadic, although some are associated with a history of neck irradiation, or prolonged use of lithium therapy for bipolar disease (6, 7). Multiple parathyroid adenomas have been reported in 2 to 4% of cases (8). Parathyroid adenomas can be discovered in many unexpected anatomic locations, including within the thyroid gland, the superior mediastinum, and within the thymus. Occasionally, the adenoma may ultimately be identified in the retroesophageal space, the pharynx, the lateral neck, and even the alimentary submucosa of the oesophagus (9). In approximately 15% of patients with primary hyperparathyroidism, all four parathyroid glands are involved. There are no clinical features that differentiate single versus multiglandular disease. In nearly one-half of cases, four-gland disease is associated with a familial hereditary syndrome, such as multiple endocrine neoplasia 1 (MEN 1) or MEN 2a.

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A Challenging Diagnosis of Primary Hyperparathyroidism in an Adolescent Female

Journal of the Endocrine Society ◽

10.1210/jendso/bvab048.354 ◽

2021 ◽

Vol 5 (Supplement_1) ◽

pp. A175-A175

Author(s):

Patricia Vining-Maravolo ◽

Ethel Clemente ◽

Berrin Ergun-Longmire

Keyword(s):

Abdominal Pain ◽

Primary Hyperparathyroidism ◽

Parathyroid Adenoma ◽

Serum Calcium ◽

Parathyroid Tissue ◽

Gastrointestinal Symptoms ◽

Vital Signs ◽

Normal Thyroid Function ◽

Sestamibi Scan ◽

History Of

Abstract Background: Hypercalcemia secondary to primary hyperparathyroidism (PHPT) is less common in children than adults. Single parathyroid adenoma is commonly the cause of primary hyperparathyroidism in children. Clinical Case: We present a 15-year-old female with one-week history of abdominal pain despite taking over the counter antacids. Her initial work up by her primary care provider revealed serum calcium of 11.8 mg/dL (9.0–11.5) and creatinine of 0.8 mg/dL (0.4–1.2). A week later, she presented to the emergency department with same complaint. In ED, she was found to have hypercalcemia (12.8 mg/dl) with elevated parathyroid hormone (PTH) at 78.5 pg/mL (15–65). Her random urine calcium creatinine ratio was high at 2.1. Her 25OHD was 25 ng/mL (30–100). She had negative urine pregnancy test but had trace ketones, leukocyte esterase, blood and bacteria. CBC and CMP were otherwise unremarkable. She continued to complain abdominal pain with nausea, decrease appetite, fatigue, and general muscle weakness. There was no known family history of calcium or metabolic bone disorders. Her vital signs and physical exam were normal. Subsequent labs showed mild improvement of calcium between (11–12.3 mg/dL), PTH between 54.5 and 77 pg/mL, normal thyroid function. Ionized calcium was mildly elevated 6.0 mg/dL (4.5–5.3) but her repeat 25OHD was low at18 ng/mL. Serum phosphorus levels were relatively normal with lowest level of 2.5 mg/dL (2.7–4.5). Gliadin Deamidated IgA was detectable 15 U/mL (< 15.0 U/). Ultrasound of abdomen was significant for nonspecific mild hepatomegaly; kidneys were normal in size and appearance. Ultrasound of thyroid was significant for probably intrathyroid parathyroid, measuring 6 x 8 x 8 mm. Tc-Sestamibi scan did not confirm a parathyroid adenoma. Genetic testing for MEN-1 was negative. FHH- related genes (i.e. CASR) was positive for p.R990G variant resulting in a mild gain of function of the calcium-sensing receptor. Although previous Tc-Sestamibi scan was unremarkable, an over read of it raised a concern for questionable uptake in the left superior lobe. SPEC-CT demonstrated possible abnormal parathyroid tissue in the upper pole of the left thyroid. FNA of the left thyroid nodule confirmed likely intrathyroidal parathyroid adenoma. Subsequent follow up and treatment, including parathyroidectomy, was done by another institution. She underwent a left parathyroidectomy with normalization of serum calcium and PTH levels post operatively (10.1 mg/dl and 8 pg/mL, respectively) and has complete resolution of her previous abdominal and gastrointestinal symptoms. Conclusion: PHPT is uncommon in children and adolescents and is typically associated with a single parathyroid adenoma. High index of suspicion is key for early diagnosis of PHPT despite a negative Tc-Sestamibi initially.

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Primary Hyperparathyroidism and Hyperthyroidism in a Patient with Myotonic Dystrophy: A Case Report and Review of the Literature

Case Reports in Endocrinology ◽

10.1155/2015/735868 ◽

2015 ◽

Vol 2015 ◽

pp. 1-5

Author(s):

Yosra Cherif ◽

Baha Zantour ◽

Wafa Alaya ◽

Olfa Berriche ◽

Samia Younes ◽

...

Keyword(s):

Family History ◽

Primary Hyperparathyroidism ◽

Myotonic Dystrophy ◽

Thyroid Stimulating Hormone ◽

High Serum ◽

Endocrine Disturbances ◽

The Family ◽

History Of ◽

99Mtc Mibi ◽

Parathyroid Dysfunction

Various endocrine manifestations are commonly described in myotonic dystrophy (MD), including primary hypogonadism, diabetes mellitus, and thyroid and parathyroid dysfunction. We describe a 46-year-old woman with a family history of MD with her son. She was diagnosed with cardiac arrhythmia and required the implantation of a pacemaker. She was noted to have a bilateral cataract. She complained of muscle weakness, diffuse myalgia, and palpitation. The electromyography (EMG) showed myotonic discharges. Laboratory tests showed high serum calcium 2.83 mmol/L, serum phosphate 1.2 mmol/L, parathormone 362.5 pg/mL, thyroid stimulating hormone TSH 0.02 mIU/L (normal range: 0.34–5.6 mIU/L), FT4 21.17 ng/mL, and negative anti-thyroperoxidase antibodies. Cervical ultrasound revealed a multinodular goiter. The 99mTc-MIBI scintigraphy localized a lower right parathyroid adenoma. The clinical data, the family history of MD, EMG data, and endocrine disturbances were strongly suggestive of MD associated with hyperthyroidism and primary hyperparathyroidism.

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