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Gland Surgery Feb 2024
PubMed: 38455356
DOI: 10.21037/gs-23-487 -
Nature Communications Mar 2024In all terrestrial vertebrates, the parathyroid glands are critical regulators of calcium homeostasis and the sole source of parathyroid hormone (PTH)....
In all terrestrial vertebrates, the parathyroid glands are critical regulators of calcium homeostasis and the sole source of parathyroid hormone (PTH). Hyperparathyroidism and hypoparathyroidism are clinically important disorders affecting multiple organs. However, our knowledge regarding regulatory mechanisms governing the parathyroids has remained limited. Here, we present the comprehensive maps of the chromatin landscape of the human parathyroid glands, identifying active regulatory elements and chromatin interactions. These data allow us to define regulatory circuits and previously unidentified genes that play crucial roles in parathyroid biology. We experimentally validate candidate parathyroid-specific enhancers and demonstrate their integration with GWAS SNPs for parathyroid-related diseases and traits. For instance, we observe reduced activity of a parathyroid-specific enhancer of the Calcium Sensing Receptor gene, which contains a risk allele associated with higher PTH levels compared to the wildtype allele. Our datasets provide a valuable resource for unraveling the mechanisms governing parathyroid gland regulation in health and disease.
Topics: Animals; Humans; Calcium; Parathyroid Glands; Parathyroid Hormone; Chromatin; Epigenesis, Genetic
PubMed: 38453887
DOI: 10.1038/s41467-024-46181-3 -
Zhong Nan Da Xue Xue Bao. Yi Xue Ban =... Dec 2023Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome in which tumor-induced osteochondrosis is a metabolic bone disease caused by increased renal excretion...
Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome in which tumor-induced osteochondrosis is a metabolic bone disease caused by increased renal excretion of phosphorus due to excessive secretion of fibroblast growth factor 23 (FGF23) by tumor tissue. We report here a rare case of TIO in which the tumor was found in the hyoid body and the patient had tertiary hyperparathyroidism. The patient's symptoms did not improve after removal of the tumor from the hyoid body, and the patient's hypophosphatemia was gradually improved after subsequent removal of the left parathyroid gland. TIO derived from the tongue tumor is very rare, and also subsequent tertiary hyperparathyroidism is even rarer. This report helps to improve the understanding of TIO and provides reference in the diagnosis and treatment of TIO.
Topics: Humans; Paraneoplastic Syndromes; Hyperparathyroidism; Osteomalacia; Parathyroid Glands
PubMed: 38448388
DOI: 10.11817/j.issn.1672-7347.2023.220547 -
Annals of the Royal College of Surgeons... May 2024The most important factors affecting the development of postoperative hypocalcaemia (PH) include intraoperative trauma to the parathyroid glands, incidental...
BACKGROUND
The most important factors affecting the development of postoperative hypocalcaemia (PH) include intraoperative trauma to the parathyroid glands, incidental parathyroidectomy (IP), and the surgeon's experience. In this study, we aimed to determine the incidence of IP, evaluate its effect on postoperative calcium levels and investigate the effect of surgeon experience and volume on IP incidence and postoperative calcium levels.
METHODS
This retrospective study included 645 patients who underwent thyroid surgery at the Department of General Surgery, Kütahya Health Sciences University between September 2016 and March 2020. All patients underwent surgery at a single clinic by general surgeons experienced in thyroid surgery and their residents (3-5 years).
RESULTS
Normal parathyroid glands were reported in 58 (8.9%) of 645 patients. In 5 (8.6%) of 58 patients the parathyroid gland was detected in the intrathyroidal region. PH developed in ten patients (17.2%) with incidental removal of the parathyroid glands. A statistically significant difference was found between the number of incidentally removed parathyroid glands and the development of hypocalcaemia (<0.05). Normal parathyroid glands were reported in the pathology of 37 (7.9%) patients operated on by general surgeons and 22 (12.6%) patients operated on by their residents. PH developed in 39 (8.2%) patients operated on by general surgeons and in 8 (4.5%) patients operated on by their residents.
CONCLUSIONS
We found that the complication rate during the resident training process was the same as that of experienced general surgeons. A thyroidectomy can be safely performed by senior residents during residential training.
Topics: Humans; Thyroidectomy; Retrospective Studies; Hypocalcemia; Female; Parathyroidectomy; Middle Aged; Male; Adult; Aged; Postoperative Complications; Incidence; Incidental Findings; Clinical Competence; Parathyroid Glands; Calcium; Young Adult; Intraoperative Complications
PubMed: 38445585
DOI: 10.1308/rcsann.2024.0019 -
Problemy Endokrinologii Feb 2024Multiple endocrine neoplasia type 1 (MEN1) - is a rare syndrome with an autosomal dominant inheritance pattern caused by a mutation in the tumor suppressor gene (MEN1).... (Comparative Study)
Comparative Study
BACKGROUND
Multiple endocrine neoplasia type 1 (MEN1) - is a rare syndrome with an autosomal dominant inheritance pattern caused by a mutation in the tumor suppressor gene (MEN1). Parathyroid involvement is the most common MEN1 manifestation resulting in primary hyperparathyroidism (mPHPT). Data on the prevalence and structure of bone disease in mPHPT compared to sporadic one (sPHPT) are often incomplete and contradictory.
AIM
The purpose of this study was to compare the severity of bone involvement between mPHPT and sPHPT.
MATERIALS AND METHODS
A single-center retrospective study was conducted among young patients in the active phase of PHPT and without prior parathyroidectomy in anamnesis. The analysis included the main parameters of calcium-phosphorus metabolism, bone remodeling markers, as well as an assessment of disease complications. Bone mineral density (BMD) was measured using dual-energy X-ray absorptiometry (DXA) at sites of lumbar spine, femur and radius. Trabecular bone score (TBS) was applied to estimate trabecular microarchitecture. All patients included in the study underwent genetic testing.
RESULTS
Group 1 (mPHPT) included 26 patients, and group 2 (sSHPT) included 30 age-matched patients: the median age in group 1 was 34.5 years [25; 39], in group 2 - 30.5 years [28; 36], (p=0.439, U-test). Within group 1, the subgroup 1A (n=21) was formed with patients without other hormone-produced neuroendocrine neoplasms (NEN) in the gastrointestinal tract (GI) and the anterior pituitary gland. The duration of PHPT was comparable in both groups: mPHPT - 1 year [0; 3] versus sPHPT - 1 year [0; 1], (p=0.533, U-test). There were no differences in the main parameters of calcium-phosphorus metabolism, as well as in the prevalence of kidney complications. In the mPHPT group, bone abnormalities were observed significantly more often compared to sPHPT: 54 vs 10% (p=<0.001; F-test). Statistically significant differences were revealed both in BMD and in Z-score values of the femoral neck and total hip, which were lower in the mPHPT group. These differences remained significant when comparing subgroup 1A with sPHPT.
CONCLUSION
MEN1-associated PHPT may be accompanied by a more severe decrease in BMD in the femoral neck and total hip compared to sPHPT regardless of the other hormone-producing NEN. Clarifying the role of mutation in the MEN1 gene in these processes requires further study.
Topics: Adult; Humans; Bone Diseases; Calcium, Dietary; Hormones; Hyperparathyroidism, Primary; Multiple Endocrine Neoplasia Type 1; Phosphorus; Retrospective Studies
PubMed: 38433544
DOI: 10.14341/probl13385 -
Problemy Endokrinologii Feb 2024Hyperparathyroidism is a syndrome characterized by an excessive secretion of parathyroid hormone. Etiologically, hyperparathyroidism is subdivided into primary... (Review)
Review
Hyperparathyroidism is a syndrome characterized by an excessive secretion of parathyroid hormone. Etiologically, hyperparathyroidism is subdivided into primary hyperparathyroidism, which develops as a result of parathyroid adenoma, carcinoma or hyperplasia, and secondary hyperparathyroidism, which happens as a compensatory response to a hypocalcemia caused by condition outside the parathyroid glands. Turner syndrome may also be accompanied by mineral metabolism disorders of various etiology. An association of hyperparathyroidism and Turner syndrome is interesting because of multifactorial impact on bone mineral density, but only few cases of such coexistence have been previously described in the literature. This article describes two patients with Turner syndrome and hyperparathyroidism of different etiology. Hyperparathyroidism, normocalcemia, vitamin D deficiency, osteoporosis, parathyroid tumors were found in both cases. In one case a number of assays was performed to confirm the patient's normocalcemic primary hyperparathyroidism, and surgery was performed to achieve remission. In the second case, treatment of vitamin D deficiency resulted in normalization of serum concentration of parathormone, after which the patient was prescribed antiresorptive therapy. The pathogenetic association between Turner syndrome and hyperparathyroidism requires further investigation. Comprehensive approach to the diagnosis and treatment of mineral metabolism disorders are essential for patients with coexistence of these two diseases.
Topics: Humans; Turner Syndrome; Hyperparathyroidism, Primary; Hyperparathyroidism, Secondary; Parathyroid Hormone; Parathyroid Neoplasms; Triamcinolone; Minerals; Vitamin D Deficiency
PubMed: 38433542
DOI: 10.14341/probl13330 -
Problemy Endokrinologii Feb 2024Primary hyperparathyroidism (PHPT) is a endocrine disorder characterized by excessive secretion of parathyroid hormone (PTH) from parathyroid gland tumors....
BACKGROUND
Primary hyperparathyroidism (PHPT) is a endocrine disorder characterized by excessive secretion of parathyroid hormone (PTH) from parathyroid gland tumors. Parathyroidectomy (PTE) is the main treatment for PHPT, but it can lead to hypocalcemia in up to 46% of cases. Hypocalcemia is associated with seizures and life-threatening cardiac arrhythmias, and vitamin D deficiency can exacerbate PHPT severity and contribute to «hungry bones syndrome,» resulting in severe and persistent postoperative hypocalcemia.
AIM
To evaluate the association and determine the strength of the relationship between preoperative cholecalciferol therapy and the occurrence of hypocalcemia within 1-3 days after PTE in patients with PHPT.
MATERIALS AND METHODS
The study was conducted at the Endocrinology Research Centre, during the periods of 1993-2010 and 2017-2020. The inclusion criteria consisted of patients diagnosed with PHPT who required PTE, had a serum 25-hydroxyvitamin D (25(OH)D) level below 20 ng/mL, and a serum total calcium level below 3 mmol/L. The exclusion criterion was the use of medications that affect calcium-phosphorus metabolism, including cinacalcet, denosumab, or bisphosphonates, either as monotherapy or as part of combination therapy.
RESULTS
There were 117 patients, including 110 (94%) females and 7 (6%) males. The median age and interquartile range were 58 [49; 65] years. Among the participants, 21 (18%) received cholecalciferol supplementation for a duration of 2 weeks to 2 months prior to PTE, aiming to address vitamin D deficiency. The remaining 96 (82%) participants did not receive -cholecalciferol supplementation. Both groups, i.e., participants receiving cholecalciferol and those who did not, were similar in terms of anthropometric factors (sex and age at the time of surgery), preoperative clinical characteristics (BMD decrease), and laboratory parameters (PTH, total calcium, phosphorus, ALP, OC, CTX-1, and 25(OH)D levels). The occurrence of postoperative hypocalcemia was significantly lower in participants who received cholecalciferol supplementation (10% vs. 63%, p<0,001, FET2). Cholecalciferol intake showed a negative association with hypocalcemia development (RR=0,15, 95% CI (0,03; 0,51)).
CONCLUSION
Preoperative cholecalciferol supplementation for 2 weeks to 2 months before PTE reduces the risk of postoperative hypocalcemia in patients with PHPT by 2-33 times.
Topics: Female; Male; Humans; Hypocalcemia; Cholecalciferol; Parathyroidectomy; Hyperparathyroidism, Primary; Parathyroid Hormone; Phosphorus; Vitamin D Deficiency
PubMed: 38433540
DOI: 10.14341/probl13324 -
Asian Journal of Surgery Jan 2024
Topics: Humans; Hyperparathyroidism, Primary; Hyperparathyroidism, Secondary; Hyperplasia; Needles; Parathyroid Glands; Water
PubMed: 38414204
DOI: 10.1016/j.asjsur.2023.10.046