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Cleveland Clinic Journal of Medicine May 2024
Topics: Humans; Parathyroidectomy; Referral and Consultation
PubMed: 38692702
DOI: 10.3949/ccjm.91a.23076 -
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 -
Medicine Apr 2024To investigate the value of preoperative ultrasound combined with 99mTc-MIBI imaging for the diagnosis of ectopic intrathyroid parathyroid gland (ETPG) in patients with...
The value of ultrasound in combination with 99mTc-MIBI imaging department of ultrasound medicine, for the diagnosis of ectopic parathyroid glands in the thyroid gland in patients with secondary hyperparathyroidism.
To investigate the value of preoperative ultrasound combined with 99mTc-MIBI imaging for the diagnosis of ectopic intrathyroid parathyroid gland (ETPG) in patients with secondary hyperparathyroidism (SHPT). One hundred and eleven patients with SHPT who underwent total parathyroidectomy plus forearm transplantation from January 2015 to January 2022 in the Third Hospital of Hebei Medical University were selected. All patients underwent routine preoperative ultrasonography and 99mTc-MIBI imaging, and with pathological diagnosis as the gold standard, the clinical data of ETPG patients were selected, including clinical manifestations, laboratory tests, preoperative ultrasonography and 99mTc-MIBI imaging for localization and diagnosis, intraoperative exploration and postoperative pathology, and postoperative follow-up. To analyze the ultrasound manifestations of preoperative parathyroid hyperplasia and the results of 99mTc-MIBI imaging in patients with ETPG. Among 111 patients with SHPT, there were 5 patients with ETPG, 1 male and 4 females with a mean age of (45.00 ± 5.05) years, and 6 ectopic parathyroid glands were located in the thyroid gland. The incidence of ETPG was 4.5% (5/111), 4 were detected by ultrasound, 2 were not detected with a diagnostic accuracy of 66.7% (4/6), 3 were positive for 99mTc-MIBI imaging, 3 were negative with a diagnostic accuracy of 50.0% (3/6). Among them, one was not detected by ultrasound, but was positive for 99mTc-MIBI imaging, 2 with negative 99mTc-MIBI imaging, but all were detected by ultrasound, and one with negative 99mTc-MIBI imaging was detected by ultrasound but misdiagnosed as a thyroid nodule. A total of 5 ETPGs were detected by ultrasound combined with 99mTc-MIBI imaging, with a diagnostic accuracy of 83.3% (5/6). Patients' postoperative serum calcium and serum parathyroid hormone (PTH) levels were normalized or significantly decreased from preoperative levels. Ultrasound combined with 99mTc-MIBI imaging can achieve higher accuracy than either examination alone in the preoperative localization and diagnosis of ETPG in SHPT patients.
Topics: Humans; Male; Female; Hyperparathyroidism, Secondary; Technetium Tc 99m Sestamibi; Middle Aged; Parathyroid Glands; Ultrasonography; Adult; Choristoma; Thyroid Gland; Radiopharmaceuticals; Radionuclide Imaging; Parathyroidectomy
PubMed: 38669430
DOI: 10.1097/MD.0000000000037866 -
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 -
Endocrine, Metabolic & Immune Disorders... 2024This guideline (GL) is aimed at providing a clinical practice reference for the management of sporadic primary hyperparathyroidism (PHPT) in adults. PHPT management in...
AIM
This guideline (GL) is aimed at providing a clinical practice reference for the management of sporadic primary hyperparathyroidism (PHPT) in adults. PHPT management in pregnancy was not considered.
METHODS
This GL has been developed following the methods described in the Manual of the Italian National Guideline System. For each question, the panel appointed by Associazione Medici Endocrinology (AME) and Società Italiana dell'Osteoporosi, del Metabolismo Minerale e delle Malattie dello Scheletro (SIOMMMS) identified potentially relevant outcomes, which were then rated for their impact on therapeutic choices. Only outcomes classified as "critical" and "important" were considered in the systematic review of evidence. Those classified as "critical" were considered for the clinical practice recommendations.
RESULTS
The present GL provides recommendations about the roles of pharmacological and surgical treatment for the clinical management of sporadic PHPT. Parathyroidectomy is recommended in comparison to surveillance or pharmacologic treatment in any adult (outside of pregnancy) or elderly subject diagnosed with sporadic PHPT who is symptomatic or meets any of the following criteria: • Serum calcium levels >1 mg/dL above the upper limit of normal range. • Urinary calcium levels >4 mg/kg/day. • Osteoporosis disclosed by DXA examination and/or any fragility fracture. • Renal function impairment (eGFR <60 mL/min). • Clinic or silent nephrolithiasis. • Age ≤50 years. Monitoring and treatment of any comorbidity or complication of PHPT at bone, kidney, or cardiovascular level are suggested for patients who do not meet the criteria for surgery or are not operated on for any reason. Sixteen indications for good clinical practice are provided in addition to the recommendations.
CONCLUSION
The present GL is directed to endocrinologists and surgeons - working in hospitals, territorial services or private practice - and to general practitioners and patients. The recommendations should also consider the patient's preferences and the available resources and expertise.
Topics: Humans; Hyperparathyroidism, Primary; Italy; Parathyroidectomy; Female; Adult
PubMed: 38644730
DOI: 10.2174/0118715303260423231122111705 -
JCEM Case Reports Apr 2024Parathyroid carcinoma (PC) is a rare endocrine neoplasm that typically presents with osteopenia/osteoporosis, nephrolithiasis, asthenia, and neuropsychiatric symptoms....
Parathyroid carcinoma (PC) is a rare endocrine neoplasm that typically presents with osteopenia/osteoporosis, nephrolithiasis, asthenia, and neuropsychiatric symptoms. We describe the case of a 48-year-old woman, presenting with a large painful hematoma in the cervicomediastinal area. The neck ultrasound (US) demonstrated a solid lesion measuring 40 × 80 × 55 mm, markedly hypoechoic, which extended from the right thyroid lobe to the mediastinum. The blood tests showed elevated serum calcium and parathyroid hormone (PTH) concentrations, consistent with hypercalcemic primary hyperparathyroidism. The patient was rehydrated and treated with furosemide, cholecalciferol, and bisphosphonate, and underwent right lower parathyroidectomy, right hemithyroidectomy, and lymphadenectomy of the right VI cervical level. Histological examination was diagnostic for nonangioinvasive or neuroinvasive PC, and the thyroid lobe was the site of lymphocytic thyroiditis; all removed lymph nodes were benign. The postoperative course was regular. Postoperative neck US showed a hypoechoic left thyroid lobe without evidence of residual neoplasm in the right thyroid bed. Levothyroxine therapy of 50 mcg/day was started because of serum thyrotropin concentrations elevated at 18 mcIU/mL (normal reference range, 0.35-4.0 mIU/mL). Eight years after diagnosis, the patient is in good general condition, with no clinical, biochemical, or imaging evidence of disease persistence/recurrence.
PubMed: 38638336
DOI: 10.1210/jcemcr/luae063 -
SAGE Open Medical Case Reports 2024Parathyroid carcinoma is a rare malignancy; and it is rarer to find one located in an ectopic location. Ectopic parathyroid glands are a reported cause of failed primary...
Parathyroid carcinoma is a rare malignancy; and it is rarer to find one located in an ectopic location. Ectopic parathyroid glands are a reported cause of failed primary surgery for hyperparathyroidism. We report here a 73-year-old male who previously had parathyroidectomy for primary hyperparathyroidism but then had recurrence of his symptoms with a diagnosis of a mediastinal parathyroid carcinoma on further evaluation. This presentation of complicated mediastinal parathyroid carcinoma posed significant diagnostic and management challenges due to comorbid stage IV chronic kidney disease (CKD). Secondly, due to the same comorbid condition, a more aggressive calcimimetic regimen could not be undertaken due to the risk of renal dysfunction with potential progression to dialysis status. Thirdly, he was a high-risk surgical candidate due to significant cardiovascular risks. Ideally, open surgical intervention would be recommended but due to the associated risks, he was managed with robotic-assisted thoracoscopic surgery. He subsequently developed hypocalcemia which normalized with supplemental calcium at follow-up.
PubMed: 38628858
DOI: 10.1177/2050313X241245919 -
Journal of Cardiothoracic Surgery Apr 2024The ectopic superior parathyroid in the tracheoesophageal groove and paraesophageal region is rare. Hyperparathyroidism results when these glands become...
BACKGROUND
The ectopic superior parathyroid in the tracheoesophageal groove and paraesophageal region is rare. Hyperparathyroidism results when these glands become hyperfunctioning. That may necessitate surgical intervention in the form of parathyroidectomy, which requires a transsternal or transthoracic approach due to a deeply seated mediastinal parathyroid gland. Minimally invasive strategies have emerged recently as an alternative approach with less morbidity.
CASE PRESENTATION
We present a case of the paraesophageal ectopic parathyroid gland in the superior posterior mediastinum, which was successfully treated with thoracoscopic resection.
CONCLUSION
The current imaging tools improve the thoracoscopic management of mediastinal parathyroid glands. Video-assisted thoracoscopic surgery (VATS) can provide access and exposure to ectopic parathyroid adenoma with low morbidity and financial burden.
Topics: Humans; Mediastinum; Parathyroid Neoplasms; Parathyroid Glands; Parathyroidectomy; Thoracic Surgery, Video-Assisted
PubMed: 38627802
DOI: 10.1186/s13019-024-02729-4 -
Medical Science Monitor : International... Apr 2024BACKGROUND Primary hyperparathyroidism is one of the most common endocrine disorders, for which the definitive treatment is surgical parathyroidectomy. Generally,...
Comparative Analysis of Transoral Endoscopic Parathyroidectomy Vestibular Approach and Focused Open Surgery for Primary Hyperparathyroidism Treatment: A Single Center Experience.
BACKGROUND Primary hyperparathyroidism is one of the most common endocrine disorders, for which the definitive treatment is surgical parathyroidectomy. Generally, surgical exploration is performed as open focused neck surgery. The vestibular route is a new approach to minimally invasive endoscopic parathyroidectomy. This retrospective study from a single center in Turkey aimed to compare surgical outcomes from the transoral endoscopic vestibular approach (TOEPVA) vs direct open parathyroidectomy in 57 patients. MATERIAL AND METHODS Our study included data from 57 patients. TOEPVA was performed in 20 of these patients who did not want a cervical scar, and focused surgery was performed in the remaining 37 patients. The variables we analyzed were size, volume, and localization of the adenoma, operative time, presence of bleeding, presence of the recurrent laryngeal nerve damage, preoperative, short-term, and long-term postoperative PTH levels, use of drain, presence of postoperative hypocalcemia, and short-term and long-term calcium levels. RESULTS No laryngeal nerve and mental nerve damage was observed in either group. The mean operative time in focused open surgery was 80.54±33.1 min, while the mean operative time in TOEPVA was 128.21±30.88 (p: 0.794) min. The mean hospitalization period of patients who underwent open surgery was 3.29±1.9 days, while the mean discharge days of patients who underwent endoscopic surgery was 2.40±1.2. (p>0.05). CONCLUSIONS TOEPVA is a safe method in patients who underwent parthyroid surgery to avoid cervical scarring.
Topics: Humans; Parathyroidectomy; Hyperparathyroidism, Primary; Retrospective Studies; Parathyroid Neoplasms; Endoscopy; Minimally Invasive Surgical Procedures
PubMed: 38622842
DOI: 10.12659/MSM.944128