scholarly journals Hyperparathyroidism-Jaw Tumor Syndrome

2021 ◽  
pp. 29-33
Author(s):  
Travis D. Weaver ◽  
Mohamed K.M. Shakir ◽  
Thanh D. Hoang
Keyword(s):  
Primary Hyperparathyroidism ◽  
Parathyroid Adenoma ◽  
Serum Calcium ◽  
Age At Onset ◽  
Young Patients ◽  
Neck Mass ◽  
Renal Tumors ◽  
Caucasian Woman ◽  
Her Family ◽  
Focal Uptake

Primary hyperparathyroidism is a relatively common endocrine disorder, affecting 7 out of 1,000 adults. The median age at onset is the 6th decade of life. Our objective was to present a young patient with primary hyperparathyroidism who has a positive CDC73 mutation. A 23-year-old woman was evaluated for hypercalcemia that was found after surgery for bilateral ovarian cyst removal. Her family history included multiple family members with nephrolithiasis. The physical examination revealed a well-appearing Caucasian woman with no palpable neck mass. The laboratory results showed serum calcium at 11.7 mg/dL (ref. 8.4–10.2), ionized calcium at 1.44 mmol/L (ref. 1.12–1.32), and serum PTH at 192 pg/mL (ref. 11–65). A technetium-99 sestamibi scan revealed focal uptake inferior to the left thyroid lobe. Thyroid ultrasound showed a left parathyroid adenoma. The patient subsequently underwent left inferior parathyroidectomy, which confirmed parathyroid adenoma, with resultant normalization of serum calcium and PTH levels. Due to her young age at diagnosis, genetic testing was performed, which revealed a mutation of CDC73. Although penetrance and expression are variable, the CDC73 mutation is associated primarily with hyperparathyroidism-jaw tumor syndrome, familial isolated hyperparathyroidism, and sporadic parathyroid carcinoma. This patient currently has no evidence of jaw, uterine or renal tumors on screening imaging. Given the potential impact of inheritable neoplasia, all young patients with unexplained hyperparathyroidism should be considered for genetic screening.

scholarly journals SAT-334 A Genetic Cause of Primary Hyperparathyroidism

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Travis Weaver ◽  
Thanh Hoang
Keyword(s):  
Family History ◽  
Primary Hyperparathyroidism ◽  
Parathyroid Adenoma ◽  
Serum Calcium ◽  
Parathyroid Carcinoma ◽  
Age Of Onset ◽  
Young Patients ◽  
Renal Tumors ◽  
Caucasian Woman ◽  
Uterine Neoplasms

Abstract Background: Primary hyperparathyroidism is a relatively common endocrine condition, affecting up to 7 out of every 1000 adults. Median age of onset is during the sixth decade of life. When present in younger patients primary hyperparathyroidism may indicate an underlying genetic cause. Case: A 23-year-old woman is referred for evaluation of hypercalcemia that was found on labs drawn after surgery for bilateral ovarian cyst removal. At the time of presentation she felt well and was without complaint. Her medical history is otherwise unremarkable. Her family history includes multiple family members with nephrolithiasis. Physical exam revealed a well appearing Caucasian woman without a palpable neck mass. Laboratory results showed: serum calcium 11.7 mg/dL (ref 8.4–10.2), ionized calcium 1.44 mmol/L (ref 1.12–1.32) and serum PTH 192 pg/mL (ref 11–65). Technetium-99 sestamibi scan revealed a low attenuating mass with focal and persistent uptake just inferior to the left thyroid lobe. She subsequently underwent left inferior parathyroidectomy, which confirmed parathyroid adenoma, with resultant normalization of serum calcium and PTH. Due to her young age of diagnosis genetic testing was performed which revealed a mutation if CDC 73. Discussion: CDC 73 mutation is known cause of inheritable neoplasia’s with a high prevalence of parathyroid dysfunction. Although penetrance and expression is variable, the mutation is associated primarily with Hyperparathyroidism Jaw Tumor Syndrome (HPT-JT), Familial Isolated Hyperparathyroidism and sporadic parathyroid carcinoma. Our patient had an allele mutation associated with HPT-JT. This syndrome classically presents with parathyroid adenoma, ossifying tumors of the mandible and renal or uterine neoplasms. The mutation is inherited in an autosomal dominant pattern and family history plays a key role in diagnosis of this rare condition. This patient had an early age of onset for hyperparathyroidism and a family history suggestive of an inherited calcium metabolism disorder. A single parathyroid adenoma is the most common presentation and surgical resection is often curative of hyperparathyroidism. In Hyperparathyroidism Jaw Tumor Syndrome patients classically develop ossifying tumors of the mandible and renal or uterine neoplasms in addition to parathyroid lesions. Rarely patients with CDC 73 mutation can develop parathyroid carcinoma. For this reason it is recommended that all first degree relatives undergo testing for CDC 73 mutation. This patient currently has no evidence of jaw, uterine or renal tumors on screening imaging. Ovarian tumors have been described separately to be associated with CDC 73 mutation, this patient may actually have an unrecognized phenotype of CDC 73 mutation. Given the potential impact of inheritable neoplasia, all young patients with unexplained hyperparathyroidism should be considered for genetic screening.

scholarly journals Primary Hyperparathyroidism in Sickle Cell Disease: An Unknown Complication of the Disease in Adulthood

2020 ◽  
Vol 9 (2) ◽  
pp. 308
Author(s):  
Elsa Denoix ◽  
Charlène Bomahou ◽  
Lorraine Clavier ◽  
Jean-Antoine Ribeil ◽  
François Lionnet ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Primary Hyperparathyroidism ◽  
Parathyroid Adenoma ◽  
Sickle Cell ◽  
Serum Calcium ◽  
Elevated Serum ◽  
Young Patients ◽  
Cell Disease ◽  
Mineral Density ◽  
Cervical Surgery

Primary hyperparathyroidism (pHPT) is the third most common endocrine disorder and usually affects patients between 60 and 70 years of age. To our knowledge, this condition has never been studied in young patients with sickle cell disease (SCD). Our objective was to describe the clinical and biological characteristics of pHPT in adult patients with SCD and its management. We conducted a retrospective study that included SCD patients who were diagnosed with pHPT in four SCD referral centers. pHPT was defined by the presence of elevated serum calcium levels with inappropriate normal or increased parathyroid hormone (PTH) serum levels or histopathological evidence of parathyroid adenoma or hyperplasia. Patients with severe renal impairment (GFR <30 mL/min) were excluded. Twenty-eight patients (18 women, 64%; 22 homozygous genotype, 79%) were included. The median age at pHPT diagnosis was 41 years (interquartile range –IQR- 31.5–49.5). The median serum calcium and PTH concentration were, respectively, 2.62 mmol/L (IQR 2.60–2.78) and 105 pg/mL (IQR 69–137). Bone mineral density (BMD) revealed very low BMD (≤−2.5 SD) in 44% of patients explored (vs. 12.5% among 32 SCD patients matched for SCD genotype, sex, age, and BMI, p = 0.03). Fourteen patients (50%) received surgical treatment, which was successful in all cases, but four of these patients (29%) presented with pHPT recurrence after a median time of 6.5 years. Three of these patients underwent a second cervical surgery that confirmed the presence of a new parathyroid adenoma. These results suggest that SCD is a condition associated with pHPT in young subjects. SCD patients with pHPT have a high risk of very low BMD. A diagnosis of pHPT should be suspected in the presence of mild hypercalcemia or low BMD in SCD patients.

scholarly journals Night Sweats as the Presenting Symptom of Primary Hyperparathyroidism

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A207-A207
Author(s):  
Vanessa Williams ◽  
Hadoun Jabri ◽  
Michael G Jakoby
Keyword(s):  
Primary Hyperparathyroidism ◽  
Parathyroid Adenoma ◽  
Serum Calcium ◽  
Vasomotor Symptoms ◽  
Temperature Threshold ◽  
Hot Flushes ◽  
Parathyroid Surgery ◽  
Intact Pth ◽  
Patient Reported ◽  
Night Sweats

Abstract Background: Approximately 25–40% of patients report night sweats in the previous month during appointments with their primary care clinicians. The differential diagnosis for night sweats is broad, with hyperthyroidism, carcinoid syndrome, pheochromocytoma, medullary thyroid carcinoma, insulinoma, and acromegaly as established endocrine causes. We present a case of primary hyperparathyroidism (PHPT) in which the patient’s chief complaint was night sweats and resolution occurred after parathyroidectomy. Case. A 39-year-old female reported one-year of daily night sweats that required changes of clothes and bedding. She denied excessive daytime sweating, frequent palpitations, tremors, nightmares, rashes, fevers, chills, cough, headaches, dizziness, abdominal pain, diarrhea, disrupted menses, or unintentional weight loss. Vital signs and examination were unremarkable. Hypercalcemia (11.0 mg/dL, 8.6–10.3) was noted and confirmed by additional serum calcium measurements. Intact PTH ranged from 27–33 pg/mL (12–88), and 24 h urine calcium (258 mg) excluded familial hypocalciuric hypercalcemia (FHH). Parathyroid scintigraphy and neck ultrasound identified a left neck mass, and the patient underwent successful resection of a left inferior parathyroid adenoma. Hypercalcemia and night sweats initially resolved after surgery, but the patient returned six weeks later with recurrence of night sweats. Reevaluation was notable for serum calcium 10.4 mg/dL, phosphorus 2.4 mg/dL (2.5–5.0), and intact PTH 104 pg/mL. A right superior parathyroid adenoma was identified on repeat parathyroidectomy, and the patient experienced durable resolution of night sweats and hypercalcemia following her second parathyroid surgery. She was screened for multiple endocrine neoplasia type 1 (MEN1) due to multiple parathyroid tumors, though no known pathogenic menin gene variants were identified. Conclusions: A title/abstract search in PubMed linking “hyperparathyroidism” and “hypercalcemia” to “night sweats,” “sleep hyperhidrosis,” “sweating,” “hot flashes,” “hot flushes,” “diaphoresis” and “vasomotor symptoms” yielded only one relevant case of a postmenopausal woman with hot flushes unresponsive to hormone replacement that resolved after parathyroidectomy for PHPT. Hypercalcemia is known to affect central nervous system function. It is possible that in rare cases hypercalcemia alters function of the medial preoptic area, lowering the temperature threshold above which peripheral vasodilatation and perspiration occur to dissipate heat. The patient’s predisposition to only night sweats is unclear, though unlike the first patient reported with PHPT and sweating, our patient is premenopausal. This case indicates that vasomotor symptoms may occur with PHPT and resolve after successful parathyroid surgery.

scholarly journals Giant parathyroid adenoma: a case report and review of the literature

2019 ◽  
Vol 13 (1) ◽  
Author(s):  
Mohamed S. Al-Hassan ◽  
Menatalla Mekhaimar ◽  
Walid El Ansari ◽  
Adham Darweesh ◽  
Abdelrahman Abdelaal
Keyword(s):  
Parathyroid Hormone ◽  
Primary Hyperparathyroidism ◽  
Parathyroid Adenoma ◽  
Neck Mass ◽  
Rare Type ◽  
Tissue Mass ◽  
Laboratory Findings ◽  
Clinical Presentations ◽  
High Calcium

Abstract Background Giant parathyroid adenoma is a rare type of parathyroid adenoma defined as weighing > 3.5 g. They present as primary hyperparathyroidism but with more elevated laboratory findings and more severe clinical presentations due to the larger tissue mass. This is the first reported case of giant parathyroid adenoma from the Middle East. Case presentation A 52-year-old Indian woman presented with a palpable right-sided neck mass and generalized fatigue. Investigations revealed hypercalcemia with elevated parathyroid hormone and an asymptomatic kidney stone. Ultrasound showed a complex nodule with solid and cystic components, and Sestamibi nuclear scan confirmed a giant parathyroid adenoma. Focused surgical neck exploration was done and a giant parathyroid adenoma weighing 7.7 gm was excised. Conclusions Giant parathyroid adenoma is a rare cause of primary hyperparathyroidism and usually presents symptomatically with high calcium and parathyroid hormone levels. Giant parathyroid adenoma is diagnosed by imaging and laboratory studies. Management is typically surgical, aiming at complete resection. Patients usually recover with no long-term complications or recurrence.

scholarly journals Hyperparathyroidism Jaw Tumor Syndrome Presenting as Recurrent Femur Fractures in a Young Woman; a Rare Presentation of a Rare Disease

2020 ◽  
Vol 2020 ◽  
pp. 1-4
Author(s):  
Piyumi S. A. Wijewickrama ◽  
Noel P. Somasundaram
Keyword(s):  
Primary Hyperparathyroidism ◽  
Parathyroid Adenoma ◽  
Rare Disease ◽  
Young Patients ◽  
Clinical Manifestations ◽  
Rare Presentation ◽  
Femur Fractures ◽  
High Calcium ◽  
Risk Of Malignancy ◽  
Exon 1

Background. Primary hyperparathyroidism usually occurs secondary to parathyroid adenoma, multiglandular hyperplasia, or parathyroid carcinoma. The patients usually present with incidentally discovered high calcium level and systemic or skeletal manifestations. In young patients with primary hyperparathyroidism, familial syndromes including multiple endocrine neoplasia types 1, 2, and 4 and hyperparathyroidism jaw tumor syndrome should be considered. Case Description. We present a case of a 22-year-old Sri Lankan woman who presented with femur fractures in a background of childhood nephroblastoma and maxillary fibro-osseous tumor. The patient had biochemical parameters suggestive of primary hyperparathyroidism with a parathyroid mass. The histology following excision of the mass revealed a parathyroid adenoma. Based on the associated clinical manifestations, hyperparathyroidism jaw tumor syndrome was suspected, and genetic studies reported a positive CDC73 mutation with a whole-gene deletion of exon 1–17. Conclusion. Hyperparathyroidism jaw tumor syndrome is an important diagnosis to consider in a young patient presenting with classic clinical features due to the risk of malignancy, familial involvement, and need to monitor for progressive systemic manifestations. As this is a rare disease, it can often be missed due to low degree of suspicion and the ability of the jaw tumor to mimic a metastatic deposit.

scholarly journals MON-LB66 Altered Mental Status and Hypercalcemia: A Rare Presentation of Pure Osteolytic Metastatic Prostate Cancer

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Ajinkya Kulkarni ◽  
Mrunal Kulkarni ◽  
Rithikaa Ellangovan ◽  
Rajesh Thirumaran
Keyword(s):  
Prostate Cancer ◽  
Primary Hyperparathyroidism ◽  
Parathyroid Adenoma ◽  
Mental Status ◽  
Serum Calcium ◽  
Bone Scan ◽  
Rare Case ◽  
Osteolytic Metastasis ◽  
Prostate Cancers ◽  
Osteoblastic Lesions

Abstract Background: We present a rare case of hypercalcemia with the concomitant presence of parathyroid adenoma, secondary hyperparathyroidism due to kidney disease and hypercalcemia of malignancy. Mild hypercalcemia due to primary hyperparathyroidism often precedes the acute, more severe hypercalcemia of malignancy. Prostate cancers are usually known to cause osteoblastic lesions. We present a rare case of prostate cancer with pure osteolytic metastasis. Case: 73 year old male with past history of ESRD on hemodialysis was brought to the ER with change in mental status. Labs showed elevated serum calcium 13.3 mg/dl (8.6-10.2 mg/dl) and creatinine 7.0 mg/dl (0.60-1.30mg/dl). Patient underwent emergent hemodialysis. Additional lab work revealed, elevated phosphorus level of 5.8mg/dl (2.5-5 mg/dl), low vitamin D 25-hydroxy of 22 ng/ml (30-100 ng/ml) and vitamin 1-25 dihydroxy level of 7 ng/ml (20-79 ng/ml). Both PTH 172.6 pg/ml (12-88 pg/ml) and PTHrP 64 pg/ml (14-27 pg/dl) levels were elevated. Parathyroid scan showed increased uptake in left inferior parathyroid gland indicating the presence of a parathyroid adenoma. Serum calcium levels remained persistently elevated despite being continued on dialysis with a low calcium bath and receiving calcium lowering therapy with calcium binding agent- cinacalcet, calcitonin, bisphosphonate. Further work up for refractory hypercalcemia revealed an elevated prostate-specific antigen (PSA) level of 1420 ng/ml (0-3.999 ng/ml). Bone scan showed no evidence of osseous metastasis. CT abdomen & pelvis showed extensive lytic bony metastases, with metastasis to lung and lymph nodes in mesenteric root and in the pelvis. Prostate gland showed asymmetric contour along the left posterolateral zone suspicious for malignancy with extracapsular spread.Biopsy from the left iliac lytic bone lesion was done that showed poorly differentiated metastatic adenocarcinoma, consistent with a prostatic primary. The patient was started on treatment with anti-androgen medication- Bicalutamide and prednisone and was planned to be started on Leuprolide as outpatient. Discussion: Hypercalcemia is uncommon in advanced prostate cancer compared to other malignancies where osteolytic metastasis is more common than osteoblastic metastasis. Incidence of malignancy in patients with primary hyperparathyroidism and vice-versa is high, hence serum PTH and PTHrP should be measured in hypercalcemic patients with malignancy. If PTHrP and PTH are both elevated, it indicates co-existent primary hyperparathyroidism. Prostate cancers are usually known to cause osteoblastic lesions and pure osteolytic metastasis from prostate carcinoma is extremely rare. Radio-nucleotide bone scan preferentially detects osteoblastic metastasis. CT or MRI is indicated to look for osteolytic lesions if suspicion for bone metastasis is high.

scholarly journals SAT-369 Parathyroid Microadenomas as a Cause of Normocalcemic Primary Hyperparathyroidism (PHPT) and a Surgical Challenge

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Tiffany Nguyen ◽  
Marc D Coltrera ◽  
Jing H Chao
Keyword(s):  
Primary Hyperparathyroidism ◽  
Parathyroid Adenoma ◽  
Serum Calcium ◽  
Compression Fracture ◽  
Extended Period ◽  
Significant Loss ◽  
Mineral Density ◽  
Dxa Scan ◽  
Normal Bone Mineral Density ◽  
Pth Level

Abstract Background: Patients with normocalcemic primary hyperparathyroidism (PHPT) share similar risks of osteoporosis and nephrolithiasis with patients having hypercalcemic PHPT. The prevalence and natural history of normocalcemic PHPT is not well defined. Parathyroid microadenomas weighing &lt; 100 mg may present as special clinical challenges in both the diagnosis and surgical resection. Clinical Case: A 55-year-old woman presented for an evaluation of osteoporosis following a non-traumatic L1 compression fracture at the age of 50 years. Noting an initial serum calcium of 10 mg/dL, we diagnosed her with normocalcemic PHPT based on a concurrent parathyroid hormone (PTH) level of 112 pg/mL (12-88 pg/mL) and a lack of other causes for an elevated PTH, including a normal eGFR, serum 25-hydroxyvitamin D, 24-hour urine calcium, and autoantibodies for celiac disease. Initial dual-energy x-ray absorptiometry (DXA) scan from 2015 showed normal bone mineral density (BMD) and T-scores in the L-spine, total hip, and femoral neck. Neck imagings, including ultrasound, sestamibi scan, and 4D CT, failed to localize a parathyroid adenoma. In the absence of a target and indications for parathyroidectomy other than osteoporosis, she was treated with bisphosphonates. While her serum calcium remained normal (9.6-10.2 mg/dL) despite an elevated PTH level (92-116 pg/mL) over a two-year period, subsequent DXA scans showed a significant loss in BMD on the bisphosphonates, prompting a peripheral DXA scan, which revealed severe osteoporosis at the distal third of the forearm (BMD 0.450 g/cm2, T-score -3.7), consistent with PTH-associated bone resorption. Following a 4-gland exploration with removal of 2 parathyroid microadenomas (63 and 100 mg), intra- and post-operative PTH levels normalized. She now awaits a repeat DXA scan at 1 year after a successful parathyroidectomy. Conclusion: Although many patients with normocalcemic PHPT may progress to develop hypercalcemia, some remain normocalcemic over an extended period. We report a patient who maintained normocalcemia for over 2 years. To correctly establish the diagnosis of normocalcemic PHPT, a comprehensive evaluation must be performed to exclude secondary causes of an elevated PTH (renal insufficiency, hypovitaminosis D, hypercalciuria, and malabsorption). Since significant osteoporosis may be preferentially seen in the cortical bone, BMD at the distal 1/3 of forearm should be evaluated in addition to the L-spine, hips and femoral necks. When a parathyroid adenoma cannot be localized in patients with normocalcemic PHPT, a careful 4-gland exploration for parathyroid microadenoma(s), paying special attention to the size, texture, and shape of the glands, and guided by intraoperative PTH levels, ensures the successful removal of the culprit gland(s).

Psychosis Resulting in Suicide in a Patient with Primary Hyperparathyroidism

1986 ◽  
Vol 31 (4) ◽  
pp. 342-343 ◽  
Author(s):  
Sueda Öztunç ◽  
Richard G. Guscott ◽  
Jorge Soni ◽  
Meir Steiner
Keyword(s):  
Primary Hyperparathyroidism ◽  
Parathyroid Adenoma ◽  
Serum Calcium ◽  
Clinical Condition ◽  
Elevated Serum ◽  
Surgical Removal ◽  
Organic Psychosis ◽  
Symptoms Of Depression ◽  
Normal Ranges ◽  
Biochemical Abnormalities

A case is reported of a patient presenting to the psychiatric unit of our hospital with symptoms of depression and found to have an organic psychosis. On routine SMA-12 investigation (12 channel auto analyzer), elevated serum calcium was detected on admission leading to the diagnosis of primary hyperparathyroidism (PHPT). The surgical removal of a parathyroid adenoma was followed by a rapid return of biochemical abnormalities to normal ranges. In spite of appropriate psychiatric management and fluctuations in the patient's clinical condition, the organic psychosis was unaltered and culminated in suicide 4 months after admission.

scholarly journals Preoperative localization of suspicious parathyroid adenomas by assay of parathyroid hormone in needle aspirates

1998 ◽  
pp. 72-77 ◽  
Author(s):  
C Marcocci ◽  
S Mazzeo ◽  
G Bruno-Bossio ◽  
A Picone ◽  
E Vignali ◽  
...  
Keyword(s):  
Parathyroid Hormone ◽  
Primary Hyperparathyroidism ◽  
Parathyroid Adenoma ◽  
Nodular Goiter ◽  
Neck Mass ◽  
Parathyroid Scintigraphy ◽  
Simple Method ◽  
Cervical Mass ◽  
Parathyroid Adenomas ◽  
Group 2

OBJECTIVE: To determine the usefulness of parathyroid hormone (PTH) measurement in needle aspirates of a suspicious neck mass to confirm its parathyroid nature in patients with primary hyperparathyroidism. METHODS: Thirty-three patients with surgically proved primary hyperparathyroidism were submitted to neck ultrasound (US), parathyroid scintigraphy, and assay of PTH in the aspirate (PTHa) of the suspicious cervical mass. RESULTS: Based on the results of neck US and parathyroid scintigraphy, patients were divided into two groups. Group 1: 16 patients (seven with nodular goiter) with concordant positive US and scintigraphic results. In all but one patient, PTHa was detectable and often markedly elevated (> 1000 pg in 12 patients, between 292 pg and 803 pg in three patients and 53 pg in one patient). The patient with undetectable PTHa had a small lower left parathyroid adenoma (8x8x10 mm). Group 2: 17 patients (12 with nodular goiter) with discordant US and scintigraphic results. PTHa established the parathyroid nature of the mass in 13 cases (> 1000 pg in 8 patients, between 501 pg and 953 pg in three patients and 90 and 79 pg in two patients): 11 of these had a suspected lesion by US examination but the scintigraphy results were negative; two had a mass that gave positive scintigraphy results but was of uncertain origin according to US: in both cases an intrathyroidal parathyroid adenoma was found. PTHa was undetectable in four cases (three with nodular goiter): all of these had equivocal US results, and three had positive scans and one a negative scan. CONCLUSIONS: Assay of PTHa is a simple method and should be useful for confirming the parathyroid nature of a cervical mass in patients with discordant or non-diagnostic US and scintigraphic results.

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