keyword
https://read.qxmd.com/read/38396977/insights-into-hyperparathyroidism-jaw-tumour-syndrome-from-endocrine-acumen-to-the-spectrum-of-cdc73-gene-and-parafibromin-deficient-tumours
#1
REVIEW
Ana-Maria Gheorghe, Oana-Claudia Sima, Alexandru Florin Florescu, Adrian Ciuche, Claudiu Nistor, Florica Sandru, Mara Carsote
A total of 1 out of 10 patients with primary hyperparathyroidism (PHP) presents an underlying genetic form, such as multiple endocrine neoplasia types 1, 2A, etc., as well as hyperparathyroidism-jaw tumour syndrome (HJT). We aimed to summarise the recent data, thus raising more awareness regarding HJT, from the clinical perspective of PHP in association with the challenges and pitfalls of CDC73 genetic testing and parafibromin staining. This narrative review included a sample-focused analysis from the past decade according to a PubMed search...
February 15, 2024: International Journal of Molecular Sciences
https://read.qxmd.com/read/38348418/a-family-case-report-of-parathyroid-carcinoma-associated-with-cdc73-mutation-in-hyperparathyroidism-jaw-tumor-syndrome
#2
Yian Gu, Yuanyuan Ye, Hua Shu, Lina Chang, Yinghui Xie, Fengao Li, Tiehong Zhu, Ming Liu, Qing He
BACKGROUND: Hereditary primary hyperparathyroidism (PHPT) accounts for 5-10% of all PHPT cases, necessitating genetic testing for diagnosis and management. Among these, hyperparathyroidism-jaw tumor syndrome (HPT-JT) is an autosomal dominant disorder caused by CDC73 mutations with variable clinical presentations and incomplete symptoms. CASE SUMMARY: The proband, diagnosed with PHPT, underwent parathyroidectomy at the age of 41 with pathological examination of parathyroid carcinoma (PC)...
2024: Frontiers in Endocrinology
https://read.qxmd.com/read/38344962/-non-functioning-parathyroid-cysts
#3
JOURNAL ARTICLE
Yu K Aleksandrov, V I Semikov, A M Shulutko
OBJECTIVE: To study the features of clinical course, diagnosis and treatment of true non-functioning parathyroid cysts. MATERIAL AND METHODS: We retrospectively analyzed 18 patients with non-functioning true parathyroid cysts. Inclusion criteria: US-confirmed anechoic lesion of the neck without tissue component, cytological data on cystic lesion, high cystic parathyroid hormone and no laboratory signs of hyperparathyroidism. RESULTS: Non-functioning parathyroid cysts were asymptomatic and diagnosed accidentally after ultrasound of the neck...
2024: Khirurgiia
https://read.qxmd.com/read/38323231/-99m-tc-methoxyisobutylisonitrile-single-photon-emission-computed-tomography-computed-tomography-parathyroid-imaging-in-the-diagnosis-of-functional-parathyroid-cysts-an-initial-experience
#4
JOURNAL ARTICLE
Yushan Wei, Yan Liu, Lulu Yang, Hui Xu, Yiyuan Yang, Yiqian Liang, Yuchen Zhang, Aimin Yang, Xiaojiang Tang, Jianjun Xue
BACKGROUND: Functional parathyroid cysts (FPCs) are rare and difficult to diagnose with noninvasive methods. The aim of this study was to evaluate the diagnostic value of 99m Tc-methoxyisobutylisonitrile (99m Tc-MIBI) single-photon emission computed tomography/computerized tomography (SPECT/CT) parathyroid imaging in the diagnosis of FPCs and to account for its performance. METHODS: The data from 10 patients with suspected parathyroid cysts (PCs) who underwent 99m Tc-MIBI SPECT/CT parathyroid imaging between 2012 and 2022 were retrospectively evaluated...
January 29, 2024: Gland Surgery
https://read.qxmd.com/read/38113561/intractable-parathyromatosis-despite-extensive-surgical-interventions-a-case-report-with-literature-review
#5
Shada Khaled Bashantoof, Mansoor Abdulmajeed Alramadhan, Modhi Hamad Alawadh, Nada Abdulaziz Bin Samaih, Rania Abdullah Alshammari, Abdulsalam Aodah
INTRODUCTION AND IMPORTANCE: Parathyromatosis is a very rare condition where persistent hyperparathyroidism occurs after surgical excision of the parathyroid gland. That is explained by many theories mainly a seeding of parathyroid gland tissue post parathyroidectomy. We report a rare case presentation of Parathyromatosis and the clinical course with the consequences of her condition. CASE PRESENTATION: a 38 years old female presented first time in 2003 with a parathyroid cyst that underwent excision which was ruptured accidentally and seeding of content happened...
December 15, 2023: International Journal of Surgery Case Reports
https://read.qxmd.com/read/38064892/parathyroid-adenoma-apoplexy-mimicking-a-thyroid-bleeding-cyst-a-seemingly-innocent-condition-that-can-be-life-threatening
#6
JOURNAL ARTICLE
Jasmine Van de Kerkhof, Jacqueline Bijnens, Frank De Geeter, Catherine Dick, Pascale De Paepe, Annick Van den Bruel
SUMMARY: Primary hyperparathyroidism most commonly presents with hypercalcaemia. Rarely, parathyroid apoplexy or haemorrhage mimicking a thyroid bleeding cyst is the first presentation of a parathyroid adenoma. A woman presented with a sudden-onset painful 'goitre'. Ultrasound showed a cystic nodule located posterior to rather than in the right thyroid lobe, suggesting parathyroid adenoma bleeding. Biochemistry showed mild primary hyperparathyroidism. 99mTc-pertechnetate/sestamibi showed no uptake in the nodule, which was interpreted as a cold thyroid nodule...
October 1, 2023: Endocrinology, Diabetes & Metabolism Case Reports
https://read.qxmd.com/read/38045792/a-middle-aged-woman-with-recurrent-intrathyroidal-parathyroid-cyst-treated-with-ethanol-sclerotherapy
#7
Paula Lorena Castellanos Sanchez, Ana Maria Chindris, Ricardo Paz-Fumagalli, Safana Ismail, Victor Joseph Bernet
BACKGROUND/OBJECTIVE: Parathyroid cysts (PC) are a rare cause of cervical masses, with an ectopic intrathyroidal location being even more rare, with only 9 cases reported in the literature. We present a case of a recurrent intrathyroidal cyst successfully treated with ethanol sclerotherapy. CASE REPORT: A 64-year-old woman presented to our clinic in 2017 with a cervical prominence and recurrent pressure sensation in her left lower neck. She had a history of multiple cyst aspiration drainage procedures for a recurrent intrathyroidal PC...
2023: AACE Clinical Case Reports
https://read.qxmd.com/read/38002348/characterization-of-rickets-type-ii-model-rats-to-reveal-functions-of-vitamin-d-and-vitamin-d-receptor
#8
JOURNAL ARTICLE
Yuichiro Iwai, Ayano Iijima, Satoko Kise, Chika Nagao, Yuto Senda, Kana Yabu, Hiroki Mano, Miyu Nishikawa, Shinichi Ikushiro, Kaori Yasuda, Toshiyuki Sakaki
Vitamin D has been known to exert a wide range of physiological effects, including calcemic, osteogenic, anticancer, and immune responses. We previously generated genetically modified (GM) rats and performed a comparative analysis of their physiological properties to elucidate the roles of vitamin D and vitamin D receptor (VDR). In this study, our primary goal was to investigate the manifestations of type II rickets in rats with the VDR(H301Q) mutation, analogous to the human VDR(H305Q). Additionally, we created a double-mutant rat with the VDR(R270L/H301Q) mutation, resulting in almost no affinity for 1,25-dihydroxy-vitamin D3 (1,25D3) or 25-hydroxy-vitamin D3 (25D3)...
November 19, 2023: Biomolecules
https://read.qxmd.com/read/37946755/simultaneous-thyroglossal-duct-cyst-with-parathyroid-cyst-a-case-report
#9
Geng-Yu Chen, Tong Li
BACKGROUND: Thyroglossal duct cysts (TDC) are common congenital deformities. Most of them are cysts formed by the thyroglossal ducts that do not disappear and degenerate in the early embryonic stage. TDC exists alone and is rarely complicated by other congenital embryonic malformations. Only a few reports of TDC with branchial cleft cysts, thyroid cancer, thyroid hematoma, and epidermoid cysts have been reported. Therefore, we report a patient with TDC and parathyroid cyst (PC), a rare disease that has never been reported...
October 16, 2023: World Journal of Clinical Cases
https://read.qxmd.com/read/37909004/a-novel-cdc73-gene-mutation-in-hyperparathyroidism-jaw-tumor-syndrome-associated-with-ectopic-pelvic-kidney
#10
Vijay Sheker Reddy Danda, Vivek Kyatham, Srinivas Rao Paidipally, Sharmila Palli
A 21-year-old woman presented with polyuria, fragility fractures, and a history of recurrent renal calculi, which was also present in her maternal aunt. Examination revealed an oval palpable mass in the neck. Biochemistry revealed a grossly elevated serum calcium, PTH, and serum alkaline phosphatase with low serum phosphorous, suggestive of primary hyperparathyroidism. Ultrasonography of the neck and parathyroid scintigraphy localized a large lesion arising from the right posterior and inferior aspect of the thyroid gland, suggesting a parathyroid tumor...
July 2023: JCEM Case Rep
https://read.qxmd.com/read/37671306/multiple-bone-cysts-caused-by-hyperparathyroidism-a-case-report-and-review-of-the-literature
#11
JOURNAL ARTICLE
Shinji Miwa, Tomohiro Tanaka, Hisaki Aiba, Satoshi Yamada, Takanobu Otsuka, Hiroyuki Tsuchiya
BACKGROUND: Brown tumor, a skeletal complication of severe hyperparathyroidism, comprises reparative granulation tissue and proliferating fibrous tissue with hemosiderin deposition. Multiple brown tumors are extremely rare complications of primary hyperparathyroidism. CASE REPORT: A 41-year-old woman presented with pain in the left knee. Radiography showed multiple cystic lesions in both femurs and the left proximal tibia, and additional radiography showed multiple cystic lesions in the left humerus and ulna...
2023: Cancer Diagn Progn
https://read.qxmd.com/read/37642507/non-neoplastic-thoracic-cysts-a-clinicopathologic-study-of-136-cases
#12
JOURNAL ARTICLE
Annikka Weissferdt
Benign cysts of the thoracic cavity represent a group of rare lesions, the spectrum of which is expanding. Most of these are congenital in nature, secondary to abnormal development during embryogenesis while a smaller subset represents acquired lesions. We retrospectively reviewed the clinicopathologic features of 136 patients with thoracic cysts that were treated in our institution over a span of 20 years. The patients were 85 female and 51 male patients with an average age of 51 years. Eighty-four of the patients were asymptomatic (62%), the remainder mainly presented with chest pain, shortness of breath, or cough...
August 29, 2023: American Journal of Surgical Pathology
https://read.qxmd.com/read/37642421/spontaneous-resolution-of-primary-hyperparathyroidism-post-biopsy-related-neck-haematoma
#13
JOURNAL ARTICLE
QingCi Goh, ChinVoon Tong
Spontaneous or fine-needle aspiration (FNA)-induced remission of primary hyperparathyroidism (PHPT) is an extremely rare phenomenon with variable outcomes. We report a 75-year-old gentleman who initially presented with left ureteric calculi and was found to have PHPT. Imaging studies including ultrasound neck, parathyroid sestamibi scan and computed tomography of thorax, abdomen, and pelvis failed to identify the culprit lesion and he was planned for exploratory parathyroidectomy. Before surgery, he underwent FNA for cytology of a right cold thyroid nodule and it was complicated with large neck haematoma and dysphagia...
August 29, 2023: Journal of the Royal College of Physicians of Edinburgh
https://read.qxmd.com/read/37568342/cystic-parathyroid-adenomas-as-a-risk-factor-for-severe-hypercalcemia
#14
JOURNAL ARTICLE
Monika Kaszczewska, Witold Chudziński, Piotr Kaszczewski, Michał Popow, Jakub Grzybowski, Anna Skowrońska-Szcześniak, Herbert Kozubek, Zbigniew Gałązka
(1) Background: Parathyroid cystic adenomas (PCA) are rare entities representing only 0.5-1% of parathyroid adenomas, accounting for 1-2% of cases of primary hyperparathyroidism (PHPT). The purpose of this study was to compare classical and functional/secreting cystic parathyroid lesions and identify risk factors for severe hypercalcemia; (2) Methods: A total of 17 patients with PHPT and parathyroid cysts (study group) were compared with the group of 100 patients with hyperparathyroidism caused by adenoma or hyperplasia (control group)...
July 27, 2023: Journal of Clinical Medicine
https://read.qxmd.com/read/37313830/-ultrasound-guided-anhydrous-ethanol-and-microwave-ablation-for-functional-parathyroid-cyst-a-case-report
#15
JOURNAL ARTICLE
D Wang, F Wu, Y Xue, X Lin, Q Zhang
We report a case of functional parathyroid cyst treated by ultrasound-guided anhydrous ethanol sclerotherapy and microwave ablation. The 63-year-old female patient was diagnosed to have functional parathyroid cyst with hypercalcemia, high PTH and cystic space-occupying lesions in the neck by ultrasound, radionuclide scanning and PTH measurement of the cystic fluid. The patient refused to receive cyst resection, and anhydrous ethanol sclerotherapy with microwave ablation was performed under ultrasound guidance...
May 20, 2023: Nan Fang Yi Ke da Xue Xue Bao, Journal of Southern Medical University
https://read.qxmd.com/read/36935552/germline-and-somatic-inactivating-flcn-variants-in-parathyroid-cancer-and-atypical-parathyroid-tumors
#16
JOURNAL ARTICLE
Smita Jha, James Welch, Rana Tora, Justin Lack, Andrew Warner, Jaydira Del Rivero, Samira M Sadowski, Naris Nilubol, Laura S Schmidt, W Marston Linehan, Lee S Weinstein, William F Simonds, Sunita K Agarwal
BACKGROUND: Parathyroid cancer (PC) is a rare endocrine neoplasm with high mortality. While surgery is the treatment for patients with the disease, recurrence rates are high, and patients usually succumb to severe hypercalcemia. There is no effective systemic therapy for the disease. METHODS: We analyzed the germline DNA of 17 patients with "sporadic" PC and 3 with atypical parathyroid tumors (APT) who did not have germline CDC73 or MEN1 pathogenic variants. Sequencing of available tumor tissue from 14 patients with PC and 2 with APT was also performed (including two patients with no available germline DNA)...
March 20, 2023: Journal of Clinical Endocrinology and Metabolism
https://read.qxmd.com/read/36926127/functioning-gonadotroph-adenoma-with-hyperestrogenemia-and-ovarian-hyperstimulation-in-a-reproductive-aged-woman-a-case-report-and-review-of-literature
#17
Ying He, Yu-Tao Gao, Li Sun
BACKGROUND: Functioning gonadotroph adenomas are extremely rare pituitary tumors that secrete gonadotropins and exhibit distinct clinical manifestations. Here, we report a case of functioning gonadotroph adenoma in a reproductive-aged woman and discuss its diagnosis and management. CASE SUMMARY: A 21-year-old female patient with abdominal pain, irregular menstruation, hyperestrogenemia, and an ovarian mass was included. Brain magnetic resonance imaging (MRI) revealed a pituitary macroadenoma, and transsphenoidal surgery relieved her clinical symptoms...
February 26, 2023: World Journal of Clinical Cases
https://read.qxmd.com/read/36794637/infected-ruptured-parathyroid-cyst-presenting-with-hypercalcemia-and-airway-obstruction-a-case-report
#18
JOURNAL ARTICLE
Syed H A Naqvi, Paul Hung, David Allen, Syed H S Naqvi, Elizabeth T Ricks, Karan Saluja, Arturo A Eguia, Ron J Karni
Parathyroid cysts (PC) are infrequently encountered and characterize less than 1% of all head and neck masses. When present, PCs may present as a palpable neck mass and lead to hypercalcemia and rarely respiratory depression. Furthermore, the diagnostics of PCs is difficult as they can masquerade as a thyroid or mediastinal mass given their proximity. PCs are theorized to be a progression of parathyroid adenomas and often routine surgical excision is sufficient for cure. To our knowledge, there is no documented report of a patient with an infected parathyroid cyst that led to severe dyspnea...
February 16, 2023: Ear, Nose, & Throat Journal
https://read.qxmd.com/read/36675400/horner-s-syndrome-and-lymphocele-following-thyroid-surgery
#19
REVIEW
Mara Carsote, Claudiu-Eduard Nistor, Florina Ligia Popa, Mihaela Stanciu
Horner's syndrome (HS), caused by lesions of the 3-neuron oculosympathetic nerve pathway (ONP), includes the triad: blepharoptosis, miosis and anhidrosis (ipsilateral with ONP damage). Thyroid-related HS represents an unusual entity underling thyroid nodules/goiter/cancer-HS (T-HS), and post-thyroidectomy HS (Tx-HS). We aim to overview Tx-HS. This is a narrative review. We revised PubMed published, full-length, English papers from inception to November 2022. Additionally, we introduced data on post-thyroidectomy lymphocele/chylous leakage (Tx-L), and introduced a new pediatric case with both Tx-HS and Tx-L...
January 6, 2023: Journal of Clinical Medicine
https://read.qxmd.com/read/36569718/multiple-brown-tumors-secondary-to-parathyroid-carcinoma-a-challenging-diagnosis
#20
Eugénia Silva, Rute Ferreira, Maria Helena Lourenço, Bernardo Marques, Sequeira Duarte
Parathyroid carcinoma is an extremely rare endocrine neoplasm that accounts for less than 1% of the cases of primary hyperparathyroidism (PHPT). Continuous exposure to high levels of parathyroid hormone (PTH) induces an increase in bone remodeling and patients may present with osteitis fibrosa cystica, which is characterized by subperiosteal resorption of the phalanges, diffuse osteopenia, salt and pepper appearance of the skull, bone cysts, and brown tumors. Brown tumors occur in less than 5% of all patients with any form of hyperparathyroidism...
November 2022: Curēus
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