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JCEM Case Reports Feb 2024Various clinical manifestations of thyroiditis after parathyroidectomy have been reported in the literature, ranging from mild symptoms to tachyarrhythmias and...
Various clinical manifestations of thyroiditis after parathyroidectomy have been reported in the literature, ranging from mild symptoms to tachyarrhythmias and myocardial infarction. We report 2 cases of post-parathyroidectomy thyroiditis. Both patients had primary hyperparathyroidism and underwent parathyroidectomy for a solitary parathyroid adenoma. They subsequently developed symptoms of hyperthyroidism, including palpitations and heat intolerance. Laboratory investigations demonstrated a suppressed TSH level with elevated free T4 levels and low uptake on thyroid radioiodine scan, confirming the diagnosis of thyroiditis. The patients were managed conservatively, and their symptoms gradually resolved with normalization of thyroid hormone levels. A review of 27 cases reported to date reveals that this condition is mostly attributed to manipulation of the thyroid during parathyroid surgery. It occurs more frequently in patients who undergo 4-gland parathyroidectomy for secondary or tertiary hyperthyroidism and is self-limited within a few weeks. The case reports highlight the importance of recognizing thyroiditis as a potentially underrecognized complication of parathyroid surgery. Further research is warranted to better understand the underlying pathophysiology and to establish potential risk factors for its development post-parathyroidectomy.
PubMed: 38213503
DOI: 10.1210/jcemcr/luad156 -
Endocrine Reviews Sep 2023Recent data suggest an increase in the overall incidence of parathyroid disorders, with primary hyperparathyroidism (PHPT) being the most prevalent parathyroid disorder....
Recent data suggest an increase in the overall incidence of parathyroid disorders, with primary hyperparathyroidism (PHPT) being the most prevalent parathyroid disorder. PHPT is associated with morbidities (fractures, kidney stones, chronic kidney disease) and increased risk of death. The symptoms of PHPT can be nonspecific, potentially delaying the diagnosis. Approximately 15% of patients with PHPT have an underlying heritable form of PHPT that may be associated with extraparathyroidal manifestations, requiring active surveillance for these manifestations as seen in multiple endocrine neoplasia type 1 and 2A. Genetic testing for heritable forms should be offered to patients with multiglandular disease, recurrent PHPT, young onset PHPT (age ≤40 years), and those with a family history of parathyroid tumors. However, the underlying genetic cause for the majority of patients with heritable forms of PHPT remains unknown. Distinction between sporadic and heritable forms of PHPT is useful in surgical planning for parathyroidectomy and has implications for the family. The genes currently known to be associated with heritable forms of PHPT account for approximately half of sporadic parathyroid tumors. But the genetic cause in approximately half of the sporadic parathyroid tumors remains unknown. Furthermore, there is no systemic therapy for parathyroid carcinoma, a rare but potentially fatal cause of PHPT. Improved understanding of the molecular characteristics of parathyroid tumors will allow us to identify biomarkers for diagnosis and novel targets for therapy.
Topics: Humans; Adult; Hyperparathyroidism, Primary; Parathyroid Neoplasms; Parathyroidectomy; Genetic Testing; Renal Insufficiency, Chronic
PubMed: 36961765
DOI: 10.1210/endrev/bnad009 -
Endocrine Dec 2023Hypercalcemic primary hyperparathyroidism (PHPT) is a common endocrine disorder that has been very well characterized. In contrast, many aspects of normocalcemic primary...
PURPOSE
Hypercalcemic primary hyperparathyroidism (PHPT) is a common endocrine disorder that has been very well characterized. In contrast, many aspects of normocalcemic primary hyperparathyroidism (NPHPT) such as natural history, organ damage, and management are still matter of debate. In addition, both the pathophysiology and molecular basis of NPHPT are unclear. We investigated whether PHPT and NPHPT patient cohorts share the same pattern of genetic variation in genes known to be involved in calcium and/or bone metabolism.
RESEARCH DESIGN AND METHODS
Genotyping for 9 single nucleotide polymorphisms (SNPs) was performed by Real-Time PCR (TaqMan assays) on 27 NPHPT and 31 PHPT patients evaluated in a tertiary referral Center. The data of both groups were compared with 54 in house-controls and 503 subjects from the 1000 Genomes Project. All groups were compared for allele/haplotype frequencies, on a single locus, two loci and multi-locus basis.
RESULTS
The NPHPT group differed significantly at SNPs in OPG and ESR1. Also, the NPHPT cohort was peculiar for pairwise associations of genotypes and for the overrepresentation of unusual multilocus genotypes.
CONCLUSIONS
Our NPHPT patient set harbored a definitely larger quota of genetic diversity than the other samples. Specific genotypes may help in defining subgroups of NPHPT patients which deserve ad hoc clinical and follow-up studies.
Topics: Humans; Hyperparathyroidism, Primary; Hypercalcemia; Calcium; Phenotype; Genotype; Parathyroid Hormone
PubMed: 37651007
DOI: 10.1007/s12020-023-03476-7 -
Revista de La Facultad de Ciencias... Dec 2023Primary hyperparathyroidism (PHPT) and celiac disease (CD) are two distinct medical conditions that can affect bone health. While PHPT leads to excessive calcium levels...
OBJECTIVE
Primary hyperparathyroidism (PHPT) and celiac disease (CD) are two distinct medical conditions that can affect bone health. While PHPT leads to excessive calcium levels and bone abnormalities, CD impairs calcium and vitamin D absorption due to small intestine damage.
CASE REPORT
We present a case of a 49-year-old woman diagnosed with osteoporosis who was found to have both PHPT and CD. The patient underwent a successful minimally invasive parathyroidectomy, which resulted in decreased parathyroid hormone levels.
CONCLUSION
This case highlights the rare coexistence of PHPT and CD and emphasizes the importance of considering secondary causes of osteoporosis in patients with low bone mass. Further studies are needed to explore the underlying mechanisms and potential links between PHPT and CD.
Topics: Female; Humans; Middle Aged; Celiac Disease; Calcium; Hyperparathyroidism, Primary; Osteoporosis; Parathyroidectomy
PubMed: 38150201
DOI: 10.31053/1853.0605.v80.n4.42137 -
Hormones (Athens, Greece) Mar 2024Primary hyperparathyroidism (PHPT), a relatively common disorder characterized by hypercalcemia with raised or inappropriately normal serum parathyroid hormone (PTH)... (Review)
Review
Primary hyperparathyroidism (PHPT), a relatively common disorder characterized by hypercalcemia with raised or inappropriately normal serum parathyroid hormone (PTH) concentrations, may occur as part of a hereditary syndromic disorder or as a non-syndromic disease. The associated syndromic disorders include multiple endocrine neoplasia types 1-5 (MEN1-5) and hyperparathyroidism with jaw tumor (HPT-JT) syndromes, and the non-syndromic forms include familial hypocalciuric hypercalcemia types 1-3 (FHH1-3), familial isolated hyperparathyroidism (FIHP), and neonatal severe hyperparathyroidism (NS-HPT). Such hereditary forms may occur in > 10% of patients with PHPT, and their recognition is important for implementation of gene-specific screening protocols and investigations for other associated tumors. Syndromic PHPT tends to be multifocal and multiglandular with most patients requiring parathyroidectomy with the aim of limiting end-organ damage associated with hypercalcemia, particularly osteoporosis, nephrolithiasis, and renal failure. Some patients with non-syndromic PHPT may have mutations of the MEN1 gene or the calcium-sensing receptor (CASR), whose loss of function mutations usually cause FHH1, a disorder associated with mild hypercalcemia and may follow a benign clinical course. Measurement of the urinary calcium-to-creatinine ratio clearance (UCCR) may help to distinguish patients with FHH from those with PHPT, as the majority of FHH patients have low urinary calcium excretion (UCCR < 0.01). Once genetic testing confirms a hereditary cause of PHPT, further genetic testing can be offered to the patients' relatives and subsequent screening can be carried out in these affected family members, which prevents inappropriate testing in normal individuals.
Topics: Infant, Newborn; Humans; Hyperparathyroidism, Primary; Calcium; Hypercalcemia; Adenoma; Fibroma; Hyperparathyroidism; Jaw Neoplasms
PubMed: 38038882
DOI: 10.1007/s42000-023-00508-9 -
Annals of Saudi Medicine 2023Neonatal severe hyperparathyroidism (NSHPT) is a rare disease that can be lethal. Most patients require parathyroidectomy. (Review)
Review
BACKGROUND
Neonatal severe hyperparathyroidism (NSHPT) is a rare disease that can be lethal. Most patients require parathyroidectomy.
OBJECTIVE
Report experience in managing this severe disease.
DESIGN
Retrospective chart review of case series.
SETTING
Tertiary health care center.
PATIENTS AND METHODS
We reviewed data on patients managed for NSHPT from June 2001 to January 2023. Demographic, clinical, and follow-up data were collected, and descriptive data were generated.
MAIN OUTCOME MEASURES
Pre- and postoperative levels of parathyroid hormone (PTH) and serum calcium, and effect of autotransplantation.
SAMPLE SIZE
19.
RESULTS
The 13 males and 6 females had a a mean age of 46 days at referral. The mean preoperative parathyroid hormone (PTH) and serum calcium levels were 996 ng/L and 4.54 mmol/L, respectively. Twelve patients underwent ultrasonography preoperatively. Of these, six had prominent glands, while no glands were seen in the other six. A Sestamibi scan was done for 15 patients, of which nine showed negative results and six showed positive results, with three glands observed in the neck and three in the sublingual area. Nineteen patients underwent renal ultrasonography, with nine showing nephrocalcinosis. The mean age at surgery was 5.2 months. Total parathyroidectomy (four glands) was performed in 17 patients, and 15 underwent concurrent auto-transplantation. One patient had three glands removed, in addition to auto-transplantation. Another underwent single gland excision as a redo-surgery after previous surgery elsewhere. The mean postoperative follow-up duration was 6 years. The mean postoperative PTH and calcium levels were 25 ng/L and 1.64 mmol/L, respectively. Ultimately, all the patients were required to initiate calcium and vitamin D supplements, except for two patients who had undergone auto-transplantation. Molecular genetic screening of the calcium-sensing receptor gene reported likely pathogenic/pathogenic mutations in 16 of 19 patients (13 were homozygous, two were heterozygous, one was negative, and data was unavailable for the remaining three patients).
CONCLUSIONS
Surgical treatment of NSHPT is effective. Preoperative radiological localization studies did not impact the treatment plan. Auto-transplantation proved ineffective in maintaining independence from medical supplements.
LIMITATIONS
The retrospective nature of the study may imply inaccuracybut since the data are gathered from electronic medical records, we believe it is highly accurate. The small sample size limits generalizability.
Topics: Male; Infant, Newborn; Female; Humans; Infant; Parathyroid Glands; Calcium; Retrospective Studies; Hyperparathyroidism, Primary; Parathyroid Hormone
PubMed: 37916585
DOI: 10.5144/0256-4947.2023.01.11.1200