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Medicine International 2024Spontaneous cervical hematoma usually occurs as a consequence of extracapsular bleeding from a parathyroid gland, generally due to the presence of an adenoma (giant...
Spontaneous cervical hematoma usually occurs as a consequence of extracapsular bleeding from a parathyroid gland, generally due to the presence of an adenoma (giant adenoma), glandular hyperplasia, cystic component, or, less frequently, due to the existence of a carcinoma. The hematoma can be confined to the cervical compartment or extend to the mediastinum, potentially causing airway compression. Despite this, the recommended management in hemodynamically stable patients consists of surveillance and hospital monitoring with delayed surgery after a few weeks. On the other hand, in those patients with airway compromise and instability, emergency surgery, consisting of cervicotomy and drainage, is mandatory. The present study describes the case of a 78-year-old patient with a medical history of high blood pressure, non-insulin-dependent diabetes mellitus, dyslipidemia, moderate aortic stenosis, chronic kidney disease and sarcoidosis under pharmacological treatment who attended the emergency department due to symptoms of neck pain, an increase in soft tissue, and dyspnea on moderate exertion with an evolution leading to respiratory failure. This was secondary to a diagnosis of spontaneous cervical hematoma that required urgent surgical intervention. The results of histopathological analysis revealed that a giant parathyroid adenoma was responsible for the bleeding. The patient had a complicated post-operative period with a prolonged admission to the intensive care unit.
PubMed: 38107474
DOI: 10.3892/mi.2023.125 -
Quantitative Imaging in Medicine and... Dec 2023Exact preoperative localization is desirable to perform minimally invasive parathyroidectomy for hyperparathyroidism (HPT). This study aimed to evaluate the diagnostic...
BACKGROUND
Exact preoperative localization is desirable to perform minimally invasive parathyroidectomy for hyperparathyroidism (HPT). This study aimed to evaluate the diagnostic values of Tc-methoxyisobutylisonitrile (Tc-MIBI) single photon emission computed tomography/computed tomography (SPECT/CT) of parathyroid glands by analyzing the relationship between lesion weight and false-negative (FN) results, as well as to explain the possible reason.
METHODS
The data from 314 patients with suspected HPT who underwent Tc-MIBI SPECT/CT parathyroid imaging between 2011 and 2022 were retrospectively evaluated. The sensitivity, positive predictive value (PPV), negative predictive value (NPV), and accuracy of parathyroid Tc-MIBI SPECT/CT were calculated, and the false-positive (FP) and FN findings were analyzed.
RESULTS
Accurate localization by Tc-MIBI SPECT/CT was significantly associated with the parathyroid hormone (PTH) level. The Tc-MIBI SPECT/CT for diagnosis/lesion location reached a sensitivity of 84.6%/56.8%, a PPV of 97.3%/98.4%, an NPV of only 23.7%/4.18%, and an accuracy of 83.4%/57.1%, respectively. The largest diameter, shortest diameter, and lesion volume were lower in the FN group than in the TP group. A total of 7 FP cases were found, including 2 cases of thyroid nodules, 4 cases of thyroid tissue, and 1 case of hibernoma. A total of 45 FN patients, including 321 FN lesions, were confirmed, of which parathyroid hyperplasia accounted for 97.8%. Lesion weights greater than 20 µg were able to be detected, but lightweight lesions less than 100 mg were the principal source of FN results, accounting for approximately 39.3%. With lesion weights 0-100, 101-300, 301-1,000, and >1,000 mg, the FN rate was 70.8% (126/178), 51.8% (103/199), 34.6% (81/234), and 8.33% (11/132), respectively.
CONCLUSIONS
Tc-MIBI SPECT/CT parathyroid imaging provides good sensitivity and high specificity in HPT location. Correct localization by Tc-MIBI SPECT/CT correlates positively with lesion weight and PTH levels. The smaller the lesion, the higher the FN rate in Tc-MIBI SPECT/CT parathyroid imaging, and lesions weighing less than 100 mg are the main source of FN results in Tc-MIBI SPECT/CT parathyroid imaging.
PubMed: 38106262
DOI: 10.21037/qims-23-1091 -
JCI Insight Jan 2024The resting zone of the postnatal growth plate is organized by slow-cycling chondrocytes expressing parathyroid hormone-related protein (PTHrP), which include a subgroup...
The resting zone of the postnatal growth plate is organized by slow-cycling chondrocytes expressing parathyroid hormone-related protein (PTHrP), which include a subgroup of skeletal stem cells that contribute to the formation of columnar chondrocytes. The PTHrP-Indian hedgehog feedback regulation is essential for sustaining growth plate activities; however, molecular mechanisms regulating cell fates of PTHrP+ resting chondrocytes and their eventual transformation into osteoblasts remain largely undefined. Here, in a mouse model, we specifically activated Hedgehog signaling in PTHrP+ resting chondrocytes and traced the fate of their descendants using a tamoxifen-inducible Pthrp-creER line with patched-1-floxed and tdTomato reporter alleles. Hedgehog-activated PTHrP+ chondrocytes formed large, concentric, clonally expanded cell populations within the resting zone ("patched roses") and generated significantly wider columns of chondrocytes, resulting in hyperplasia of the growth plate. Interestingly, Hedgehog-activated PTHrP+ cell descendants migrated away from the growth plate and transformed into trabecular osteoblasts in the diaphyseal marrow space in the long term. Therefore, Hedgehog activation drives resting zone chondrocytes into transit-amplifying states as proliferating chondrocytes and eventually converts these cells into osteoblasts, unraveling a potentially novel Hedgehog-mediated mechanism that facilitates osteogenic cell fates of PTHrP+ skeletal stem cells.
Topics: Mice; Animals; Chondrocytes; Parathyroid Hormone-Related Protein; Growth Plate; Receptor, Parathyroid Hormone, Type 1; Hedgehog Proteins; Red Fluorescent Protein
PubMed: 38051593
DOI: 10.1172/jci.insight.165619 -
Frontiers in Endocrinology 2023Parathyroid carcinoma (PC) affects 0.1-0.3% of the general population and represents the rarest malignant neoplasms among endocrinological diseases, comprising less than... (Observational Study)
Observational Study
BACKGROUND
Parathyroid carcinoma (PC) affects 0.1-0.3% of the general population and represents the rarest malignant neoplasms among endocrinological diseases, comprising less than 1%. The best therapeutic treatment and management methods are still debated in the literature. The aim of this study is to evaluate the management and surgical treatment of parathyroid carcinoma after 6 years of enrolment with the Endocrine Surgery Unit of the University Hospital of Bari.
MATERIALS AND METHODS
A retrospective observational study was carried out using a prospectively maintained database of patients affected by primary hyperparathyroidism between January 2017 and September 2022. Consecutive patients over 18 years old with a final histopathological finding of PC were included in the study. Patients with secondary or tertiary hyperparathyroidism, parathyroid hyperplasia, and parathyroid adenoma were excluded. All patients underwent follow-up every 6 months for the first 2 years, and annually thereafter.
RESULTS
In this study, 9 out of 40 patients affected by hyperparathyroidism were included; 6 (66.6%) were female and 3 (33.3%) were male patients, with a median age of 59 years (IQR 46-62). None had a family history of PC. No mortality was recorded while the incidence of recurrence was 22.2%, with a disease-free survival of 8 and 10 months. Parathyroidectomy was performed in five patients, while four patients underwent parathyroidectomy with concurrent thyroidectomy for thyroid goitre. No intraoperative complications were recorded. Open parathyroidectomy was performed with a mini-cervicotomy in seven patients, while two patients underwent robotic surgery. All patients were discharged on the second postoperative day.
CONCLUSION
PC represents a great challenge in terms of preoperative diagnosis, management and treatment. A surgical approach represents the first best option for PC in referral endocrine surgery units. The early identification of risky patients should be the dominant goal to plan an appropriate therapy and to perform adequate en bloc surgery.
Topics: Humans; Male; Female; Middle Aged; Adolescent; Parathyroid Neoplasms; Follow-Up Studies; Hyperparathyroidism, Primary; Parathyroidectomy; Thyroidectomy
PubMed: 38027123
DOI: 10.3389/fendo.2023.1278178 -
Cureus Oct 2023Multiple endocrine neoplasia (MEN) is an inherited, autosomal dominant condition characterized by primary parathyroid hyperplasia, medullary thyroid neoplasm, and...
Multiple endocrine neoplasia (MEN) is an inherited, autosomal dominant condition characterized by primary parathyroid hyperplasia, medullary thyroid neoplasm, and pheochromocytoma. It most commonly presents with medullary thyroid cancer and less frequently with other complaints. Pheochromocytoma can also manifest through gastrointestinal complaints such as abdominal pain, nausea, and constipation. We present a normotensive case of pheochromocytoma, initially featuring abdominal pain and vomiting, which was later found to be associated with neck swelling and medullary thyroid cancer. The patient underwent an adrenalectomy and has continued to visit our endocrinology clinic for ongoing monitoring and treatment of iatrogenic hypoparathyroidism and hypothyroidism. A brief review is also provided.
PubMed: 38022135
DOI: 10.7759/cureus.47063 -
Problemy Endokrinologii Nov 2023Timely referral of patients for genetic testing to rule out MEN1-associated primary PHPT is important factor in determining treatment strategy and prognosis. In the...
BACKGROUND
Timely referral of patients for genetic testing to rule out MEN1-associated primary PHPT is important factor in determining treatment strategy and prognosis. In the context of the limited availability of genetic testing, the search for clinical markers indicative of MEN1 gene mutations remains an extremely relevant task.
AIM
To determine the diagnostic value of clinical features of primary PHPT in young patients for predicting the presence of MEN1 gene mutations.
MATERIALS AND METHODS
A single-center, prospective study was conducted at the Endocrinology Research Centre, involving 273 patients with PHPT in the period 2015-2022. Based on the results of genetic and laboratory tests, patients were divided into three groups: those with MEN1 gene mutations (MEN+ group, n=71), those without MEN1 gene mutations - isolated sporadic PHPT (MEN- group, n=158), and patients with PHPT and associated endocrine gland disorders - MEN-1 syndrome phenocopies (PHEN group, n=32). Subgroups of patients younger than 40 years of age were also identified. Comparative analysis was performed among the independent groups and subgroups, and logistic regression analysis was used to develop a mathematical model for predicting the probability of the presence of MEN1 gene mutation.
RESULTS
Patients in the MEN+ and MEN- groups were comparable by gender and age at manifestation, as well as calcium-phosphorus metabolism parameters and PHPT complications. In the PHEN group, PHPT manifested at older age compared to the other groups (p<0.001 for all), with lower total calcium levels and a trend toward lower iPTH concentrations. The MEN+ group had a significantly higher frequency of multiglandular parathyroid (PG) involvement, PHPT recurrence, and positive family history compared to the MEN- and PHEN groups. Histologically, adenomas predominated in the PHEN and MEN- groups (92% and 94%, respectively), whereas hyperplasia of PGs were more common in the MEN+ group (49%). None of the PHEN patients had all three «classic» components of the MEN-1 syndrome, and the clinical course of PHPT was similar to that of the MEN- group. These differences were also observed in the subgroups of patients younger than 40 years, which formed the basis for the development of a mathematical model. The logistic regression equation for predicting the probability of the presence of the MEN1 gene mutation included eight predictors, with a diagnostic sensitivity of 96% and specificity of 98%.
CONCLUSION
Based on the analysis performed, eight hereditary predictors of PHPT within the MEN-1 syndrome were identified. A mathematical model was developed to predict the presence of the MEN1 gene mutation in patients, which demonstrated high classification performance on the training dataset. Further refinement of the model will help improve the quality of medical care for patients with PHPT.
Topics: Humans; Hyperparathyroidism, Primary; Prospective Studies; Multiple Endocrine Neoplasia Type 1; Phenotype; Mutation
PubMed: 37968947
DOI: 10.14341/probl13322 -
The Lancet Regional Health. Europe Dec 2023Neck ultrasound (US) is a widely used and accessible operator-dependent technique that helps characterize thyroid nodules and pathologic parathyroid glands (PPGs)....
BACKGROUND
Neck ultrasound (US) is a widely used and accessible operator-dependent technique that helps characterize thyroid nodules and pathologic parathyroid glands (PPGs). However, thyroid nodules may sometimes be confused with PPGs. PARATH-US study aims at identifying US characteristics to differentiate PPGs from thyroid nodules, as there is no study, at present, which directly compares the US features of these two common neoplasms.
METHODS
PARATH-US is a single-center study that was conducted at a tertiary referral center, including consecutive lesions from patients undergoing neck US examination from 2016 to 2022.
FINDINGS
176 PPGs (158 patients: serum calcium levels 2.91 [IQR 2.74-3.05] mmol/L, PTH levels 173 [112-296] ng/L) were compared to 232 size- and volume-matched thyroid nodules (204 age- and sex-matched patients). The morphologic patterns, echoic content and vascular status were all different between PPGs and thyroid neoplasms (p < 0.01 for all comparisons). The combined parameters maximally discriminated PPGs from thyroid nodules (OR, 7.6; 95% CI: 3.4, 17.1, p < 0.0001). When applying risk stratification systems developed for thyroid malignancies, 58-63% of PPGs were classified as high-risk lesions. Parathyroid adenomas had larger sizes and volumes than hyperplasias (p = 0.013 and p = 0.029). Serum calcium and PTH levels were significantly correlated with PPG size and volume (p < 0.0001 for all comparisons).
INTERPRETATION
We demonstrate the presence of distinct US characteristics in PPGs, which help differentiate them from thyroid nodules. When mistaken for thyroid nodules, PPGs bear high-risk US features. When dealing with high-risk cervical lesions detected on US, a PPG should be suspected, and an assessment of calcium levels recommended to avoid unnecessary invasive procedures.
FUNDING
CYTO-TRAIN, C2022DOSRH053, funded by the French Regional Health Agency.
PubMed: 37915399
DOI: 10.1016/j.lanepe.2023.100751 -
JCEM Case Reports Jul 2023Vitamin D hydroxylation-deficient rickets type 1A is an autosomal recessive disorder caused by pathogenic variants in gene, which encodes for 1α-hydroxylase, the...
Vitamin D hydroxylation-deficient rickets type 1A is an autosomal recessive disorder caused by pathogenic variants in gene, which encodes for 1α-hydroxylase, the enzyme responsible for the conversion of 25-OH vitamin D into its active form 1,25(OH)2 vitamin D. We report the case of a 3-year-old female Mexican patient with growth retardation and progressive bone deformity, whose laboratory studies showed 25-OH vitamin D deficiency, a normal serum calcium and an elevated intact parathyroid hormone level that remained high despite calcitriol, cholecalciferol, and calcium supplementation. Tc sestamibi gammagram showed findings suggestive of parathyroid hyperplasia. Bone histomorphometry showed an image consistent with hyperparathyroidism without findings of osteomalacia, so normocalcemic primary hyperparathyroidism was suspected and a subtotal parathyroidectomy was performed, with the patient developing postoperative hypoparathyroidism. When she arrived at our clinic at age 18 years, she showed calcium- and calcitriol-dependent hypocalcemia, with secondary hyperparathyroidism and low levels of 1,25(OH)2 vitamin D in the absence of a 25-OH vitamin D deficiency, reflecting a defect in 1α-hydroxylation. Molecular testing revealed compound heterozygous variants in gene. This is the first reported case of an inherited disorder of vitamin D metabolism that was diagnosed and surgically treated as primary hyperparathyroidism.
PubMed: 37908980
DOI: 10.1210/jcemcr/luad084 -
Cureus Oct 2023Background Parathyroid hormone (PTH) and Dickkopf-related protein 1 (DKK-1) have been mentioned together at the intersection of autoimmune rheumatologic diseases (ARDs)...
Background Parathyroid hormone (PTH) and Dickkopf-related protein 1 (DKK-1) have been mentioned together at the intersection of autoimmune rheumatologic diseases (ARDs) and osteoimmunology. However, few studies have evaluated the association between primary hyperparathyroidism (PHPT) and ARDs. Methodology This retrospective study included 225 PHPT patients and 386 patients with thyroid nodules as a control group. The electronic hospital records of all patients were screened going back nine years for the presence of ARDs. Patients who were diagnosed at least three months ago, had complete serologic tests, and were continuing with rheumatologic follow-up were included. Results The prevalence of ARDs in the PHPT group was 9.77% (22/225), while the prevalence of ARDs in the CG was 1.04% (4/386, p < 0.001). The prevalence of rheumatoid arthritis in the PHPT group was 4.4% (10/225), ankylosing spondylitis 3.1% (7/225), systemic lupus erythematosus 0.88% (2/225), Behçet's disease 0.88% (2/225), and mixed connective tissue disease 0.44% (1/225). Of the 22 patients with ARDs, 21 (95.45%) were diagnosed before they were diagnosed with PHPT, and the median time from diagnosis with ARD to the onset of PHPT was 36 months (interquartile range = 61.5). Logistic regression analysis showed a positive correlation between the duration of PHPT and ARDs (odds ratio (OR) = 1.06; 95% confidence interval (CI) = 1.02-1.09, p < 0.001) and a negative correlation between ARDs and calcium levels (OR = 0.26; 95% CI = 0.09-0.79, p = 0.018). Conclusions The prevalence of ARDs increased in PHPT patients and PHPT accompanying ARDs developed after rheumatologic disease. ARDs with PHPT are cases with a prolonged duration of PHPT and mildly elevated calcium, probably preceded by parathyroid hyperplasia. Therefore, the factors that cause ARDs may trigger a process that leads to mild PHPT.
PubMed: 37841984
DOI: 10.7759/cureus.46906