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Ceskoslovenska Patologie 2024The diagnosis of pathological conditions of the parathyroid glands is the answer to clinically more frequently detected hypercalcemic conditions, including MEN... (Review)
Review
The diagnosis of pathological conditions of the parathyroid glands is the answer to clinically more frequently detected hypercalcemic conditions, including MEN syndromes. In routine biopsy practice, enlarged bodies are also a differential diagnosis for the diagnosis of thyroid nodules. In the chapter of parathyroid tumors, the 5th edition of the WHO classification brings changes influenced similarly to other endocrine organs by the increase in genetic information. At the terminological level, the concept of hyperplasia has been narrowed down to secondary hyperplasia, most of the previously primary hyperplasias are referred to as multiglandular parathyroid disease due to evidence of multiglandular clonal proliferations. The term atypical parathyroid tumor replacing atypical adenoma is newly introduced - the uncertain biological behaviour is emphasized. The basic examination includes parafibromin immunohis- tochemistry, the deficiency of parafibromin being an indicator of an inactivating CDC73 mutation and an increased risk of familial forms, or MEN. Methodologically, refinements are introduced in the quantification of mitotic activity per 10 mm2. Oncocytic subtypes have an arbitrarily declared threshold of more than 75% oncocytes. The definition of lipoadenoma (multiplication of both components, more than 50% of adipose tissue in the tumor) is similarly specified. The diagnosis of cancer remains histopathological with unequivocal evidence of invasion, or microscopically verified metastasis.
Topics: Humans; Parathyroid Neoplasms; World Health Organization; Adenoma
PubMed: 38697830
DOI: No ID Found -
Rozhledy V Chirurgii : Mesicnik... 2024Thoracic surgery is increasingly influenced by the development of minimally invasive approaches which have also influenced surgery in the area of the anterior...
Thoracic surgery is increasingly influenced by the development of minimally invasive approaches which have also influenced surgery in the area of the anterior mediastinum. The previously standard approach to the thymus via partial sternotomy was gradually replaced by the videothoracoscopic approach in most cases. In recent years, robotically assisted surgery has been gaining ground worldwide in this area, as well. The aim of our paper is to provide a comprehensive overview of procedures in the field of the thymus, including their indications, and to share our first experience with robot-assisted thymus surgery. At the 3rd Department of Surgery, since the start of the robot-assisted thymus surgery program, 23 thymectomies have been performed using this approach, of which 17 were performed for thymoma, 3 for myasthenia gravis, and 3 for parathyroid adenoma localized in thymus tissue. From our experience and the available data, it follows that the length of hospitalization, the rate of complications and the resulting effect of robot-assisted procedures is comparable to VTS procedures; however, the robot-assisted surgery also allows for mini-invasive treatment even in significantly obese patients and in patients with advanced thymic tumors who would otherwise be indicated for open thymectomy.
Topics: Humans; Robotic Surgical Procedures; Thymectomy; Thymus Neoplasms; Thymoma; Myasthenia Gravis; Parathyroid Neoplasms; Thymus Gland; Male
PubMed: 38697812
DOI: 10.33699/PIS.2024.103.2.40-47 -
Medicina 2024Primary hyperparathyroidism (PHPT) is characterized by elevated levels of calcium and parathyroid hormone (PTH). However, the interpretation of diagnostic tests, such as...
Primary hyperparathyroidism (PHPT) is characterized by elevated levels of calcium and parathyroid hormone (PTH). However, the interpretation of diagnostic tests, such as serum calcium and PTH levels, is complex in pregnant women. The aim of this report is to present a case of PHTP in a pregnant adolescent, with a special emphasis on an uncommon complication, as well as diagnostic and treatment strategies. A 17-year-old pregnant female presented with hyperemesis gravidarum and neurological symptoms, leading to the diagnosis of cerebral venous thrombosis. Further investigations revealed hypercalcemia and persistently elevated PTH levels, consistent with PHPT. After localization studies, the patient underwent an emergency parathyroidectomy with a diagnosis of parathyroid adenoma. During follow-up, intrauterine growth restriction and severe preeclampsia developed, necessitating an emergency cesarean section. Both the mother and neonate had favorable outcomes. PHPT is an infrequent condition in the pregnant population, and its diagnosis can be challenging due to the overlap of symptoms with normal physiological changes during pregnancy. The occurrence of uncommon complications, such as thrombotic phenomena, highlights the need for a comprehensive approach to ensure early detection and management. In most cases, parathyroidectomy is the treatment of choice.
Topics: Humans; Female; Pregnancy; Hyperparathyroidism, Primary; Parathyroid Neoplasms; Adolescent; Parathyroidectomy; Adenoma; Parathyroid Hormone; Pregnancy Complications, Neoplastic; Pregnancy Complications; Hyperemesis Gravidarum; Hypercalcemia; Cesarean Section
PubMed: 38683521
DOI: No ID Found -
Endocrine, Metabolic & Immune Disorders... Apr 2024Currently, parathyroidectomy is the standard treatment for Primary Hyperparathyroidism (PHPT). Surgical treatment is often effective, although not free of complications...
BACKGROUND
Currently, parathyroidectomy is the standard treatment for Primary Hyperparathyroidism (PHPT). Surgical treatment is often effective, although not free of complications and relapses. Minimally invasive techniques, such as Microwave Ablation (MWA) and Radiofrequency Ablation (RFA), are an alternative to surgery in selected patients. We have, herein, reported on the successful use of RFA in a patient with post-surgical persistent hyperparathyroidism.
CASE PRESENTATION
A 54-year-old woman was referred to our Center for mild hypercalcemia with exams revealing Primary Hyperparathyroidism (PHPT). Neck ultrasound and Technetium- 99 Methoxy-isobutyl-isonitrile (99mTc-MIBI) scintigraphy scanning revealed a suspicious right parathyroid hyperplasia/adenoma. She underwent parathyroidectomy and histological examination showed a parathyroid nodular hyperplasia. During the follow-up, she suffered from persistent hyperparathyroidism due to the treatment of left parathyroid hypoplasia with RFA. Blood tests after the procedure showed the remission of the disease 7 months post-treatment.
CONCLUSION
A minimally invasive technique for PHPT may represent a valid alternative to surgery, especially in patients with an elevated surgery-related risk. More studies are necessary to investigate the benefit of RFA as a first-line treatment in PHPT.
PubMed: 38676523
DOI: 10.2174/0118715303308277240419062634 -
Medicine Apr 2024Parathyroid hormone-related peptide (PTHrP) is known to have a pivotal role in the progression of various solid tumors, among which prostate cancer stands out. However,...
BACKGROUND
Parathyroid hormone-related peptide (PTHrP) is known to have a pivotal role in the progression of various solid tumors, among which prostate cancer stands out. However, the extent of PTHrP expression and its clinical implications in prostate cancer patients remain shrouded in obscurity. The primary objective of this research endeavor was to shed light on the relevance of PTHrP in the context of prostate cancer patients and to uncover the potential underlying mechanisms.
METHODS
The expression of PTHrP, E-cadherin, and vimentin in tumor tissues of 88 prostate cancer patients was evaluated by immunohistochemical technique. Subsequently, the associations between PTHrP and clinicopathological parameters and prognosis of patients with prostate cancer were analyzed.
RESULTS
Immunohistochemical analysis showed that the expression rates of PTHrP, E-cadherin, and vimentin in prostate cancer tissues were 95.5%, 88.6%, and 84.1%, respectively. Patients with a high level of PTHrP had a decreased expression of E-cadherin (P = .013) and an increased expression of vimentin (P = .010) compared with patients with a low level of PTHrP. Besides, the high expression of PTHrP was significantly correlated with a higher level of initial prostate-specific antigen (P = .026), positive lymph node metastasis (P = .010), osseous metastasis (P = .004), and Gleason score (P = .026). Moreover, patients with a high level of PTHrP had shorter progression-free survival (P = .002) than patients with a low level of PTHrP.
CONCLUSION
The present study indicates that PTHrP is associated with risk factors of poor outcomes in prostate cancer, while epithelial-mesenchymal transition may be involved in this process.
Topics: Humans; Male; Parathyroid Hormone-Related Protein; Prostatic Neoplasms; Prognosis; Aged; Vimentin; Cadherins; Middle Aged; Biomarkers, Tumor; Immunohistochemistry; Prostate-Specific Antigen; Lymphatic Metastasis
PubMed: 38669432
DOI: 10.1097/MD.0000000000037934 -
The Neurohospitalist Apr 2024Hypercalcemia-induced posterior reversible encephalopathy syndrome (PRES) is a rare entity primarily associated with iatrogenic vitamin D/calcium overdose, malignancy,...
A Novel Adult Case of Recurrent Acute Pancreatitis Caused by Hypercalcemia With Concurrent Manifestation of Posterior Reversible Encephalopathy Syndrome Revealing Undiagnosed Primary Hyperparathyroidism due to an Underlying Parathyroid Adenoma.
BACKGROUND
Hypercalcemia-induced posterior reversible encephalopathy syndrome (PRES) is a rare entity primarily associated with iatrogenic vitamin D/calcium overdose, malignancy, or, infrequently, primary hyperparathyroidism.
CASE REPORT
We present a novel case of an adult male from rural India who experienced recurrent acute pancreatitis caused by hypercalcemia with concurrent manifestation of PRES. Diagnostic evaluation revealed markedly elevated serum calcium levels and parathyroid hormone concentrations, consistent with primary hyperparathyroidism. Imaging studies identified a parathyroid adenoma near the right thyroid lobe, subsequently surgically excised.
DISCUSSION
This case underscores the importance of considering primary hyperparathyroidism as an underlying cause of PRES, especially in the absence of acute arterial hypertension or autonomic dysfunction. Early recognition and intervention are essential in mitigating the morbidity and mortality of PRES.
PubMed: 38666285
DOI: 10.1177/19418744231217768 -
Frontiers in Endocrinology 202424-Hydroxylase, encoded by the gene, is a crucial enzyme involved in the catabolism of vitamin D. Loss-of-function mutations in result in PTH-independent... (Review)
Review
INTRODUCTION
24-Hydroxylase, encoded by the gene, is a crucial enzyme involved in the catabolism of vitamin D. Loss-of-function mutations in result in PTH-independent hypercalcaemia with high levels of 1,25(OH)D. The variety of clinical manifestations depends on age, and underlying genetic predisposition mutations can lead to fatal infantile hypercalcaemia among neonates, whereas adult symptoms are usually mild.
AIM OF THE STUDY
We report a rare case of an adult with primary hyperparathyroidism and loss-of-function mutations in the gene and a review of similar cases.
CASE PRESENTATION
We report the case of a 58-year-old woman diagnosed initially with primary hyperparathyroidism. Preoperatively, the suspected mass adjoining the upper pole of the left lobe of the thyroid gland was found via ultrasonography and confirmed by 99mTc scintigraphy and biopsy as the parathyroid gland. The patient underwent parathyroidectomy (a histopathology report revealed parathyroid adenoma), which led to normocalcaemia. After 10 months, vitamin D supplementation was introduced due to deficiency, and the calcium level remained within the reference range. Two years later, biochemical tests showed recurrence of hypercalcaemia with suppressed parathyroid hormone levels and elevated 1,25(OH)D concentrations. Further investigation excluded the most common causes of PTH-independent hypercalcaemia, such as granulomatous disease, malignancy, and vitamin D intoxication. Subsequently, vitamin D metabolites were measured using LC-MS/MS, which revealed high levels of 25(OH)D, low levels of 24,25(OH)D and elevated 25(OH)D/24,25(OH)D ratios, suggesting a defect in vitamin D catabolism. Molecular analysis of the gene using the NGS technique revealed two pathogenic variants: p.(Arg396Trp) and p.(Glu143del) (rs114368325 and rs777676129, respectively).
CONCLUSIONS
The diagnostic process for hypercalcaemia becomes complicated when multiple causes of hypercalcaemia coexist. The measurement of vitamin D metabolites using LC-MS/MS may help to identify carriers of mutations. Subsequent molecular testing may contribute to establishing the exact frequency of pathogenic variants of the gene and introducing personalized treatment.
Topics: Humans; Hypercalcemia; Female; Middle Aged; Vitamin D3 24-Hydroxylase; Parathyroid Neoplasms; Adenoma; Mutation; Parathyroidectomy
PubMed: 38665259
DOI: 10.3389/fendo.2024.1355916 -
BMC Endocrine Disorders Apr 2024There has been a notable shift towards the diagnosis of less severe and asymptomatic primary hyperparathyroidism (PHPT) in developed countries. However, there is a...
BACKGROUND
There has been a notable shift towards the diagnosis of less severe and asymptomatic primary hyperparathyroidism (PHPT) in developed countries. However, there is a paucity of recent data from sub-Saharan Africa (SSA), and also, no reported data from SSA on the utility of intra-operative parathyroid hormone (IO-PTH) monitoring. In an earlier study from Inkosi Albert Luthuli Central Hospital (IALCH), Durban, South Africa (2003-2009), majority of patients (92.9%) had symptomatic disease. The aim of this study was to evaluate the clinical profile and management outcomes of patients presenting with PHPT at IALCH.
METHODS
A retrospective chart review of patients with PHPT attending the Endocrinology clinic at IALCH between July 2009 and December 2021. Clinical presentation, laboratory results, radiologic findings, surgical notes and histology were recorded.
RESULTS
Analysis included 110 patients (87% female) with PHPT. Median age at presentation was 57 (44; 67.5) years. Symptomatic disease was present in 62.7% (n:69); 20.9% (n:23) had a history of nephrolithiasis and 7.3% (n:8) presented with previous fragility fractures. Mean serum calcium was 2.87 ± 0.34 mmol/l; median serum-PTH was 23.3 (15.59; 45.38) pmol/l, alkaline phosphatase 117.5 (89; 145.5) U/l and 25-hydroxyvitamin-D 42.9 (33.26; 62.92) nmol/l. Sestamibi scan (n:106 patients) identified an adenoma in 83.02%. Parathyroidectomy was performed on 84 patients with a cure rate of 95.2%. Reasons for conservative management (n:26) included: no current surgical indication (n:7), refusal (n:5) or deferral of surgery (n:5), loss to follow-up (n:5) and assessed as high anaesthetic risk (n:4). IO-PTH measurements performed on 28 patients indicated surgical success in 100%, based on Miami criteria. Histology confirmed adenoma in 88.1%, hyperplasia in 7.1% and carcinoma in 4.8%. Post-operative hypocalcaemia developed in 30 patients (35.7%), of whom, 14 developed hungry bone syndrome (HBS). In multivariate analysis, significant risk factors associated with HBS included male sex (OR 7.01; 95% CI 1.28, 38.39; p 0.025) and elevated pre-operative PTH (OR 1.01; 95% CI 1.00, 1.02; p 0.008).
CONCLUSIONS
The proportion of asymptomatic PHPT has increased at this centre over the past decade but symptomatic disease remains the dominant presentation. Parathyroidectomy is curative in the majority of patients. IO-PTH monitoring is valuable in ensuring successful surgery.
Topics: Humans; Hyperparathyroidism, Primary; Female; Male; Middle Aged; Retrospective Studies; South Africa; Adult; Aged; Parathyroidectomy; Parathyroid Neoplasms; Parathyroid Hormone; Follow-Up Studies; Disease Management; Treatment Outcome; Prognosis; Calcium
PubMed: 38664758
DOI: 10.1186/s12902-024-01583-8 -
Journal of Pediatric Endocrinology &... Jun 2024The most common cause of primary hyperparathyroidism (PPH) in children is a parathyroid adenoma. Among this population, PPH exhibits higher levels of morbidity, severity...
OBJECTIVES
The most common cause of primary hyperparathyroidism (PPH) in children is a parathyroid adenoma. Among this population, PPH exhibits higher levels of morbidity, severity and target organ involvement compared to adults. When there is suspicion of PPH, cervical ultrasound and Tc-sestamibi SPECT/CT are the imaging test traditionally indicated. Among adults, the use of [F]fluorocholine PET/CT has shown a higher sensitivity than ultrasound and [Tc]sestamibi SPECT/CT, leading to an expanding adoption in recent years. However, its role in paediatrics has not been clearly defined yet.
CASE PRESENTATION
The patient is an adolescent female aged 13 years presented with lithiasis. The analytical study revealed elevated PTH, hipovitaminosis D, hypercalcaemia and hypophosphataemia. Due to the suspicion of PPH, cervical ultrasound and Tc-sestamibi SPECT/C were performed, failing to identify hyperfunctioning parathyroid glands. We proceeded to carry out a [F]fluorocholine PET/CT where a hypermetabolic nodular image was identified, compatible with a hyperfunctioning parathyroid adenoma. The patient underwent surgery, resulting in the normalisation of PTH levels. Pathological anatomy confirmed the presence of a parathyroid adenoma.
CONCLUSIONS
In cases where conventional imaging tests yield negative results or discrepancies, we suggest the possibility of the use of [F]fluorocholine PET/CT for the detection of hyperfunctioning parathyroid adenomas.
Topics: Humans; Female; Adolescent; Hyperparathyroidism, Primary; Choline; Positron Emission Tomography Computed Tomography; Parathyroid Neoplasms; Radiopharmaceuticals; Prognosis; Adenoma; Fluorine Radioisotopes
PubMed: 38661069
DOI: 10.1515/jpem-2023-0556 -
Cureus Mar 2024Primary hyperparathyroidism (PHPT) usually presents with symptoms of hypercalcemia which is due to excessive secretion of parathyroid hormone (PTH). Surgical removal of...
Primary hyperparathyroidism (PHPT) usually presents with symptoms of hypercalcemia which is due to excessive secretion of parathyroid hormone (PTH). Surgical removal of the secreting tumor either adenoma or hyperplasia remains the mainstay of treatment. Around 2% to 25% of the lesions are located in the mediastinum. We reviewed our institution's surgical treatment and approach to mediastinal parathyroid adenoma (MPA). We retrospectively reviewed the demography, comorbidities, clinical presentation, surgical approach, and outcome for patients in our institution who underwent surgery for MPA from September 2019 until August 2023. All patients with MPA who underwent surgery were included in the review. The surgical approaches used were both video-assisted thoracoscopic surgery (VATS) and median sternotomy. There were three patients with PHPT due to MPA who underwent surgery. Out of the three patients, two were female. The mean age was 48.6 years old, ranging from 16 to 66 years old. All of them presented with PHPT with a raised mean serum calcium level of 3.52 mmol/L (range: 2.84-4.38 mmol/L) and a mean PTH or intact PTH (iPTH) level of 274.6 pmol/L (range: 8.87-695 pmol/L). Ultrasound of the neck was performed for all the patients before further investigations were done to look for the ectopic parathyroid gland. Computed tomography (CT) of the thorax showed mediastinal parathyroid mass in all the patients with an average size of 2.4 x 2.1 x 2.3cm (range: 1.3-3.8cm), which showed uptake in 99mTc-hexakis-2-methoxyisobuthylisonitrile (Tc99m-MIBI) scintigraphy. VATS was performed for two cases and an upper partial sternotomy was performed for one patient. Postoperatively, iPTH and serum calcium levels were reduced significantly for all patients. There were no post-operative complications in our study. Comprehensive diagnostic imaging and surgical planning are important for the localization of MPA. In our review, all cases were promptly diagnosed and underwent surgery without complication.
PubMed: 38650780
DOI: 10.7759/cureus.56792