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.

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 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 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 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 A Rare Presentation of Primary Hyperparathyroidism with Concurrent Aldosterone-Producing Adrenal Carcinoma

2015 ◽  
Vol 2015 ◽  
pp. 1-5 ◽  
Author(s):  
Mario Molina-Ayala ◽  
Claudia Ramírez-Rentería ◽  
Analleli Manguilar-León ◽  
Pedro Paúl-Gaytán ◽  
Aldo Ferreira-Hermosillo
Keyword(s):  
Primary Hyperparathyroidism ◽  
Adrenal Tumor ◽  
Young Patients ◽  
Plasma Renin ◽  
Tracer Uptake ◽  
Endocrine Tumors ◽  
Adrenal Carcinoma ◽  
Rare Presentation ◽  
Plasma Aldosterone Concentration ◽  
Adrenocortical Carcinomas

Aldosterone-producing adrenocortical carcinomas are an extremely rare cause of hyperaldosteronism (<1%). Coexistence of different endocrine tumors warrants additional screening for multiple endocrine neoplasia syndromes, especially in young patients with large or malignant masses. We present the case of a 40-year-old man with a history of hypertension that presented with an incidental left adrenal tumor during an ultrasound performed for nephrolithiasis. Biochemical assessment showed a mildly elevated calcium (11.1 mg/dL), high parathyroid hormone, and a plasma aldosterone concentration/plasma renin activity ratio of 124.5 (normal < 30), compatible with primary hyperparathyroidism with a concomitant primary hyperaldosteronism. A Tc99m-MIBI scintigraphy showed an abnormally increased tracer uptake in the right superior parathyroid and abdominal computed tomography confirmed a left adrenal tumor of 20 cm. The patient underwent parathyroidectomy and adrenalectomy with final pathology reports of parathyroid hyperplasia and adrenal carcinoma with biochemical remission of both endocrinopathies. He was started on chemotherapy, but the patient developed a frontal cortex and an arm metastasis and finally died less than one year later.

Molecular and genetic features of primary hyperparathyroidism in young patients

2016 ◽  
Vol 62 (2) ◽  
pp. 4-11 ◽  
Author(s):  
Elizaveta O. Mamedova ◽  
Natalya G. Mokrysheva ◽  
Ekaterina A. Pigarova ◽  
Iya A. Voronkova ◽  
Sergey N. Kuznetsov ◽  
...  
Keyword(s):  
Family History ◽  
Primary Hyperparathyroidism ◽  
Parathyroid Carcinoma ◽  
Positive Family History ◽  
Young Patients ◽  
Clinical Manifestations ◽  
Genetic Characteristics ◽  
Men1 Gene ◽  
Ion Torrent Pgm ◽  
Genetic Features

When primary hyperparathyroidism (PHPT) is diagnosed in a young patient in the absence of other clinical manifestations differential diagnosis between a sporadic form of PHPT and PHPT as the first manifestation of one of hereditary syndromes may be challenging. Diagnosis of sporadic or hereditary PHPT determines the extent of surgical intervention, a strategy for further observation and treatment, and the need for examination and treatment of first-degree relatives. Aim of the study — to determine genetic characteristics of PHPT with manifestation at a young age (<40 years old) with clinically sporadic PHPT and familial isolated hyperparathyroidism (FIHP).Material and methods. 40 patients with manifestation of PHPT at the age younger than 40 years, 4 of which with FIHP, were included in the study. In 11 patients Sanger sequencing of MEN1 gene was performed (ABI 3130 Genetic Analyser, «Applied Biosystems», USA). 37 patients underwent next-generation sequencing (NGS) (Ion Torrent PGM, Thermo Fisher Scientific — Life Technologies, USA) using a panel of candidate genes (MEN1, CASR, CDC73, CDKN1A, CDKN1B, CDKN1C, CDKN2A, CDKN2C, CDKN2D). Results. In 3 (7,5%) patients (1 of which with FIHP) we revealed germline heterozygous mutations in MEN1 gene: in exon 9 p.D418N, exon 3 p.R176Q, intron 3 с.654+1G>A. In 4 (4/40, 10%) patients we revealed germline heterozygous mutations in CDC73 gene: 3 nonsense mutations in patients with parathyroid carcinoma — in exon 3 p.R91X, exon 6 p.Q166X, exon 7 p.R229X, and 1 missense mutation in a patient with parathyroid hyperplasia in exon 8 p.R263C. Conclusions. In the majority of cases (75%) PHPT in young patients without positive family history is sporadic. Search for germline mutations in the genes, leading to development of hereditary forms of PHPT (first of all in MEN1 and CDC73), is appropriate in young patients with positive family history, or when positive family history may be suspected, and in patients with parathyroid carcinoma. In the majority (75%) of FIHP cases search for other, probably yet unknown, genes is necessary.

scholarly journals Undescended retropharyngeal parathyroid adenoma with adjacent thymic tissue in a 13-year-old boy with primary hyperparathyroidism

2019 ◽  
Vol 2019 (12) ◽  
pp. 519-523 ◽  
Author(s):  
Anthony M Kordahi ◽  
Ron S Newfield ◽  
Stephen W Bickler ◽  
Jun Q Mo ◽  
Paritosh C Khanna ◽  
...  
Keyword(s):  
Primary Hyperparathyroidism ◽  
Ct Scan ◽  
Parathyroid Adenoma ◽  
Pharyngeal Pouch ◽  
Rare Presentation ◽  
Thymic Tissue ◽  
The Third ◽  
Parathyroid Adenomas ◽  
Preoperative Ct ◽  
Third Pharyngeal Pouch

ABSTRACT We describe a rare presentation of a symptomatic parathyroid adenoma located in an ectopic retropharyngeal position in a 13-year-old boy. Preoperative CT scan and MRI demonstrated the ectopic location of the parathyroid adenoma. The patient underwent successful parathyroidectomy with cure of his hyperparathyroidism. On pathologic exam, the specimen was made up of a parathyroid adenoma and adjacent thymic tissue, indicating that it was likely an undescended lower parathyroid gland arising from the third pharyngeal pouch. Ectopic retropharyngeal parathyroid adenomas are very rare and to our knowledge, none have been previously described in adolescents.

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 Hypercalcemia induced pancreatitis as a rare presentation of primary hyperparathyroidism

2021 ◽  
Vol 84 (2) ◽  
pp. 367-370
Author(s):  
V Desmedt ◽  
S Desmedt ◽  
E D’heygere ◽  
G Vereecke ◽  
W Van Moerkercke
Keyword(s):  
Acute Pancreatitis ◽  
Abdominal Pain ◽  
Case Report ◽  
Primary Hyperparathyroidism ◽  
Parathyroid Adenoma ◽  
Inflammatory Process ◽  
High Morbidity ◽  
Rare Presentation ◽  
Common Cause ◽  
Upper Abdominal

Acute pancreatitis (AP) is an inflammatory process of the pancreas. It is a relatively common cause of acute upper abdominal pain and is potentially associated with high morbidity and mortality. Underlying hypercalcemia as a cause of AP is very rare. We present a case of a hypercalcemia-induced acute pancreatitis with an underlying parathyroid adenoma in an 81-year-old woman with no previous symptoms of hypercalcemia. The parathyroid adenoma was semi-urgently surgically resected with normalization of calcium-levels. This case report summarizes the causes of acute pancreatitis and hypercalcemia and its management.

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