Severe Hypercalcemia due to Primary Hyperparathyroidism with MEN 2A

2010 ◽  
Vol 2 (3) ◽  
pp. 131-133
Author(s):  
Geoffrey B Thompson ◽  
Benzon M Dy ◽  
Bianca Vazquez ◽  
Peter J Tebben ◽  
Seema Kumar
Keyword(s):  
Primary Hyperparathyroidism ◽  
Parathyroid Adenoma ◽  
Surgical Management ◽  
Clinical Presentation ◽  
Clinical Manifestations ◽  
Mineral Density ◽  
Normal Range ◽  
Rare Presentation ◽  
Severe Hypercalcemia ◽  
Men 2A

ABSTRACT Introduction Severe hypercalcemia due to primary hyperparathyroidism (PHPT) is rare in the setting of MEN 2A. Materials and methods Two patients with MEN 2A and severe hypercalcemia were identified recently. Their clinical presentation, evaluation, surgical management and outcomes are reviewed. Results Two patients with MEN 2A were identified with severe hypercalcemia secondary to a parathyroid adenoma. Calcium levels were elevated to 12.7 mg/dL and 15.1 mg/dL, respectively (normal range = 8.9-10.1 mg/dL). In each case, a single parathyroid adenoma was identified and surgically excised with normalization of parathyroid and calcium levels postoperatively. Clinical manifestations at the time of diagnosis included constipation, polyuria, hypercalciuria, and decreased bone mineral density. Conclusion Severe elevation of serum calcium is a rare presentation of PHPT in MEN2A. The differential diagnosis should include parathyroid adenoma, hyperplasia and parathyroid carcinoma. Early surgical management is essential in the treatment of hyperparathyroidism with severe hypercalcemia to prevent further complications.

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 Primary Hyperparathyroidism: Modern Conception and Clinical Observation

2020 ◽  
Vol 10 (2) ◽  
pp. 94-101
Author(s):  
L. M. Farkhutdinova
Keyword(s):  
Parathyroid Hormone ◽  
Primary Hyperparathyroidism ◽  
Parathyroid Adenoma ◽  
Clinical Manifestations ◽  
Premature Death ◽  
Developed Countries ◽  
Severe Form ◽  
Mineral Density ◽  
Target Organs ◽  
Increased Risk

The article is devoted to one of the actual medical and social problems — primary hyperparathyroidism, the late diagnosis of which leads to the development of severe complications and an increased risk of premature death. Unlike developed countries, where 80% of cases are represented by mild forms of the disease, in the Russian Federation this indicator does not exceed 30%, while 70% are manifest forms. Widespread awareness of doctors of various specialties in the diagnosis of parathyroid adenoma is necessary for the timely detection of the disease. The article reflects the main stages of the study of the disease, the pathogenesis of the clinical manifestations of primary hyperparathyroidism, the classic symptoms of which are changes in the target organs of the parathyroid hormone — bone tissue, urinary system and gastrointestinal tract, is considered. Bone disorders are the most common manifestation of hyperparathyroidism and are characterized by increased bone metabolism with a progressive decrease in bone mineral density. Typical changes in the kidneys include nephrolithiasis and nephrocalcinosis, causing the formation of renal failure. Gastrointestinal signs of hyperparathyroidism are erosion and ulcers of the stomach and duodenum, prone to bleeding, recurrent pancreatitis. Diagnosis of the disease is based on laboratory results, characterized by elevated levels of calcium and parathyroid hormone in the blood. Visualization of the paradenomas in most cases is provided by ultrasound and scintigraphy. Removal of parathyroid adenoma is the most effective treatment. A clinical case of a severe form of the disease is presented, indicating an urgent need to take measures to solve the problem of primary hyperparathyroidism.

scholarly journals Primary Hyperparathyroidism: Modern Conception and Clinical Observation

2020 ◽  
Vol 10 (2) ◽  
pp. 94-101
Author(s):  
L. M. Farkhutdinova
Keyword(s):  
Parathyroid Hormone ◽  
Primary Hyperparathyroidism ◽  
Parathyroid Adenoma ◽  
Clinical Manifestations ◽  
Premature Death ◽  
Developed Countries ◽  
Severe Form ◽  
Mineral Density ◽  
Target Organs ◽  
Increased Risk

The article is devoted to one of the actual medical and social problems — primary hyperparathyroidism, the late diagnosis of which leads to the development of severe complications and an increased risk of premature death. Unlike developed countries, where 80% of cases are represented by mild forms of the disease, in the Russian Federation this indicator does not exceed 30%, while 70% are manifest forms. Widespread awareness of doctors of various specialties in the diagnosis of parathyroid adenoma is necessary for the timely detection of the disease. The article reflects the main stages of the study of the disease, the pathogenesis of the clinical manifestations of primary hyperparathyroidism, the classic symptoms of which are changes in the target organs of the parathyroid hormone — bone tissue, urinary system and gastrointestinal tract, is considered. Bone disorders are the most common manifestation of hyperparathyroidism and are characterized by increased bone metabolism with a progressive decrease in bone mineral density. Typical changes in the kidneys include nephrolithiasis and nephrocalcinosis, causing the formation of renal failure. Gastrointestinal signs of hyperparathyroidism are erosion and ulcers of the stomach and duodenum, prone to bleeding, recurrent pancreatitis. Diagnosis of the disease is based on laboratory results, characterized by elevated levels of calcium and parathyroid hormone in the blood. Visualization of the paradenomas in most cases is provided by ultrasound and scintigraphy. Removal of parathyroid adenoma is the most effective treatment. A clinical case of a severe form of the disease is presented, indicating an urgent need to take measures to solve the problem of primary hyperparathyroidism.

scholarly journals Giant Parathyroid Adenoma Associated With Aberrant Subclavian Artery and Nonrecurrent Laryngeal Nerve

2021 ◽  
pp. 014556132110209
Author(s):  
Christian Caceres ◽  
Kourosh Parham
Keyword(s):  
Primary Hyperparathyroidism ◽  
Parathyroid Adenoma ◽  
Surgical Management ◽  
Subclavian Artery ◽  
Clinical Presentation ◽  
Laryngeal Nerve ◽  
Rare Type ◽  
Aberrant Subclavian Artery ◽  
Parathyroid Adenomas ◽  
Nonrecurrent Laryngeal Nerve

Parathyroid adenomas are responsible for 80% to 85% of cases of primary hyperparathyroidism. Giant parathyroid adenomas are a rare type of parathyroid adenoma defined as weighing >3.5 grams. Although giant parathyroid adenomas are rare entities whose clinical presentation may not be atypical, their surgical management can be challenging, especially in the setting of anatomical variants. We present here a case of a 29-year-old female with a 37-gram giant adenoma which was diagnosed after presentation with recurrent severe headaches. The presentation was also unique in that it was associated with a right aberrant subclavian artery and nonrecurrent laryngeal nerve.

Endocrine monitoring after severe hypercalcemia due to primary hyperparathyroidism. In search of lost…MEN 2A?

2021 ◽  
Author(s):  
Laura Teodoriu ◽  
Maximilian Hogea ◽  
Viorel Scripcariu ◽  
Bianca Ioan ◽  
Letitia Leustean ◽  
...  
Keyword(s):  
Primary Hyperparathyroidism ◽  
Severe Hypercalcemia ◽  
Men 2A

Vitamin D status, seasonal variations, parathyroid adenoma weight and bone mineral density in primary hyperparathyroidism

2005 ◽  
Vol 63 (5) ◽  
pp. 506-513 ◽  
Author(s):  
B. Moosgaard ◽  
P. Vestergaard ◽  
L. Heickendorff ◽  
F. Melsen ◽  
P. Christiansen ◽  
...  
Keyword(s):  
Bone Mineral Density ◽  
Vitamin D ◽  
Primary Hyperparathyroidism ◽  
Parathyroid Adenoma ◽  
Bone Mineral ◽  
Seasonal Variations ◽  
Vitamin D Status ◽  
Mineral Density

scholarly journals Rare Case of Severe Hypercalcemia Secondary to Atypical Sestamibi Negative Parathyroid Cystic Adenoma

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A266-A267
Author(s):  
Timur Gusov ◽  
John Chen Liu ◽  
Sowjanya Naha ◽  
F N U Marium ◽  
Joseph Theressa Nehu Parimi ◽  
...  
Keyword(s):  
Primary Hyperparathyroidism ◽  
Parathyroid Adenoma ◽  
Parathyroid Gland ◽  
Severe Hypercalcemia ◽  
Parathyroid Adenomas ◽  
Sestamibi Scan ◽  
Serum Pth ◽  
The Right ◽  
99Mtc Sestamibi ◽  
Cystic Adenoma

Abstract Primary hyperparathyroidism (PHPT) is defined as excessive secretion of parathyroid hormone (PTH) originating from the parathyroid gland. The most common cause is a single parathyroid adenoma which is typically solid. Cystic parathyroid adenomas (CPA) are the cause of about 1–2% of cases of primary hyperparathyroidism. It is known that cystic parathyroid adenomas are a result of degeneration of an existing parathyroid adenoma. SestaMIBI is an imaging study based on uptake of radioactive technetium99 and used to localize parathyroid adenomas. We describe an unusual case of severe hypercalcemia secondary to 99mTc sestaMIBI negative atypical parathyroid cystic adenoma. A 56-year-old male presented to our facility with nausea and vomiting. His past medical history included hypertension and hepatitis C with no history of fractures or kidney disease. Physical examination was normal. Upon admission the patient was afebrile with blood pressure of 170/120 mmHg and heart rate of 62 bpm. Chemistry showed Calcium of 14.5 mg/dL (8.6–10.2mg/dL), phosphorus 2.2 (2.7–4.5) mh/dL, magnesium 1.8 (1.7–2.6)mg/dL, intact PTH of 375 (15–65) pg/mL, PTH-related peptide <2.0 pmol/L(<2 pmol/L), 25-OH vitamin D of 19 ng/ml (30–80), Creatinine 1.22 (0.7–1.2)mg/dL, alkaline phosphatase 95 (40–129) units/L. He was started on aggressive hydration, calcitonin 4 units/kg, 4 mg of IV Zolendroninc acid. Neck sonogram revealed a large, complex, predominantly anechoic lesion with solid vascular components and thick internal septations in the inferior and medial aspect of the right thyroid lobe measuring 3 x 2 x 5.5 cm. Findings were confirmed with CT of the neck. Since Sestamibi scan (planar and SPECT/CT) did not show uptake in parathyroid glands, the cyst was thought to be of thyroid origin. Fine needle aspiration was not able to detect cellular material, but PTH was >100 pg/ml on the FNA sample. Otolaryngology service was consulted for parathyroidectomy. During the surgical treatment, the right upper parathyroid gland was removed with no changes in serum PTH. Next, the cystic lesion was removed with normalization of serum PTH (from 218 pg/ml to 35.2 pg/ml respectively). Intraoperative frozen section analysis was read as a cystic parathyroid adenoma. The final pathology report revealed cystic parathyroid tissue favoring parathyroid adenoma with focal atypia. Hypercalcemia resolved. Conclusions: Atypical cystic parathyroid adenomas are a rare cause of PHPT. 90% of parathyroid cysts are nonfunctional. Above mention is a case of a patient presenting with hypercalcemic crisis secondary to cystic parathyroid adenoma, which posed a diagnostic challenge as both neck ultrasound and 99mTc sestaMIBI scan were inconclusive. These findings should trigger suspicion for functional parathyroid lesions. Cystic components should be evaluated for PTH levels and if significantly elevated should be treated as a parathyroid adenoma.

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

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.

scholarly journals SAT-LB65 A Rare Existence

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Jiselle Aimee Yaplito Bedia ◽  
Maria Honolina S Gomez
Keyword(s):  
Primary Hyperparathyroidism ◽  
Parathyroid Adenoma ◽  
Clinical Presentation ◽  
Renal Involvement ◽  
Preoperative Imaging ◽  
Biochemical Screening ◽  
Central Target ◽  
Target Organs ◽  
Postoperative Hypoparathyroidism ◽  
Parathyroid Adenomas

Abstract Primary hyperparathyroidism is a common endocrine disorder of metabolism usually due to a parathyroid adenoma. Although, the clinical presentation of primary hyperparathyroidism has changed from Albright’s description of a disease of bones and stones, the central target organs affected by this disorder continue to be the skeleton and kidneys. With the advent of routine biochemical screening, the typical diagnosis of primary hyperparathyroidism is no longer accompanied by overt skeletal and renal involvement. Majority of the cases of primary hyperparathyroidism are due to parathyroid adenomas. Giant glands were defined as greater than the 95th percentile, characterized as glands weighing > 3.5 grams. This present case in a 54-year old female is a rare case of primary hyperparathyroidism secondary to a giant parathyroid adenoma measuring 10.7 x 8.0 x 40.0 cm and weighing 145 grams, the largest giant parathyroid adenoma reported to date, with co-existent silent thymoma, multinodular goiter and osteosclerosis of the vertebral spine, metaphorically known as the “rugger-jersey spine”. The association between thymoma and parathyroid adenoma is rare, and only 3 cases have been reported in the literature. We characterized the correlation of preoperative imaging, intraoperative location, and postoperative course, including significant postoperative hypoparathyroidism, as compared to other patients with PHPT to determine whether giant adenomas represent a clinical entity with distinct clinical characteristics. Keywords: primary hyperparathyroidism, giant parathyroid adenoma, rugger-jersey spine, thymoma Abbreviation PHPT Primary hyperparathyroidism

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 < 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).

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