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1.
Front Endocrinol (Lausanne) ; 15: 1258233, 2024.
Article En | MEDLINE | ID: mdl-38841301

Technetium-99m sestamibi single-photon emission computed tomography/computed tomography (99mTc-sestamibi SPECT/CT) is a mainstay of the pre-operative localization of parathyroid lesions. We report here the case of a 30 year-old woman with a fortuitously discovered 2 cm cervical mass for which a parathyroid origin was originally suspected due to its retro-thyroidal localization and a personal history of nephrolithiasis. Normal serum calcium and parathyroid hormone (PTH) levels excluded primary hyperparathyroidism, raising suspicion of a non-functional parathyroid adenoma, and SPECT/CT imaging showed that the mass was 99mTc-sestamibi-avid. Fine-needle aspiration (FNA) was performed; cytology was non-diagnostic but the needle washout was negative for thyroglobulin, calcitonin and PTH, arguing against a thyroidal or parathyroidal origin of the mass. Core needle biopsy revealed a schwannoma, ostensibly originating from the recurrent laryngeal nerve; upon surgical resection, it was finally found to arise from the esophageal submucosa. This case illustrates the fact that endocrinologists, radiologists, nuclear medicine, head and neck, and other specialists investigating patients with cervical masses should be aware that schwannomas need to be considered in the differential diagnosis of focal 99mTc-sestamibi uptake in the neck region.


Adenoma , Neurilemmoma , Parathyroid Neoplasms , Technetium Tc 99m Sestamibi , Humans , Female , Parathyroid Neoplasms/diagnostic imaging , Parathyroid Neoplasms/pathology , Parathyroid Neoplasms/surgery , Parathyroid Neoplasms/diagnosis , Adult , Neurilemmoma/diagnostic imaging , Neurilemmoma/pathology , Neurilemmoma/diagnosis , Diagnosis, Differential , Adenoma/diagnostic imaging , Adenoma/diagnosis , Adenoma/pathology , Adenoma/metabolism , Esophageal Neoplasms/diagnostic imaging , Esophageal Neoplasms/diagnosis , Esophageal Neoplasms/pathology , Esophageal Neoplasms/surgery , Single Photon Emission Computed Tomography Computed Tomography , Radiopharmaceuticals
2.
Rozhl Chir ; 103(2): 40-47, 2024.
Article En | MEDLINE | ID: mdl-38697812

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.


Myasthenia Gravis , Robotic Surgical Procedures , Thymectomy , Thymoma , Thymus Neoplasms , Humans , Robotic Surgical Procedures/methods , Thymectomy/methods , Thymus Neoplasms/surgery , Thymoma/surgery , Myasthenia Gravis/surgery , Parathyroid Neoplasms/surgery , Thymus Gland/surgery , Male
3.
Medicine (Baltimore) ; 103(18): e38107, 2024 May 03.
Article En | MEDLINE | ID: mdl-38701245

RATIONALE: Primary hyperparathyroidism, though relatively prevalent among endocrine disorders, affecting 1% of the general population, often presents diagnostic challenges. Given its potential to precipitate severe complications including nephrolithiasis and fractures, timely diagnosis, and effective management are crucial. PATIENT CONCERNS: A 38-year-old woman with hypercalcemia was referred to the Department of Nuclear Medicine for a Tc-99m MIBI scan. DIAGNOSES: Tc-99m MIBI scan showed focal increased uptake in the left thyroid gland area, initially suggesting a parathyroid adenoma. Further examination using SPECT/CT revealed a nodular lesion within the left thyroid gland showing high Tc-99m MIBI uptake. INTERVENTIONS: Left thyroid lumpectomy confirmed the lesion as follicular thyroid carcinoma. On the second Tc-99m MIBI scan conducted after total thyroidectomy, a parathyroid adenoma was eventually detected in the right lower area, enabling the subsequent appropriate treatment, a right lower parathyroidectomy. OUTCOMES: Thirteen days after the parathyroidectomy, serum levels of total calcium and parathyroid hormone returned to normal. Furthermore, bone mineral density evaluated using DEXA remained within the expected range for her age even after 14 months. LESSONS: When interpreting the Tc-99m MIBI scan, it is essential to keep in mind that various tumors rich in mitochondria, such as thyroid carcinoma, could show a high uptake of Tc-99m MIBI.


Adenocarcinoma, Follicular , Incidental Findings , Parathyroid Neoplasms , Technetium Tc 99m Sestamibi , Humans , Female , Adult , Parathyroid Neoplasms/diagnostic imaging , Parathyroid Neoplasms/surgery , Parathyroid Neoplasms/diagnosis , Adenocarcinoma, Follicular/diagnostic imaging , Adenocarcinoma, Follicular/diagnosis , Adenocarcinoma, Follicular/surgery , Diagnosis, Differential , Thyroid Neoplasms/diagnostic imaging , Thyroid Neoplasms/diagnosis , Radiopharmaceuticals , Adenoma/diagnostic imaging , Adenoma/diagnosis , Adenoma/surgery , Single Photon Emission Computed Tomography Computed Tomography/methods
5.
J Nippon Med Sch ; 91(2): 227-232, 2024.
Article En | MEDLINE | ID: mdl-38777783

BACKGROUND: Detective flow imaging (DFI) is a new imaging technology that displays low-velocity blood flow, which is difficult to visualize on conventional color Doppler ultrasonography (CDU). In this study, we compared the usefulness of DFI with that of CDU and methoxy-isobutyl-isonitrile (MIBI) scintigraphy for detecting parathyroid adenoma (PA) in patients with primary hyperparathyroidism (PHPT). METHODS: From March 2021 to March 2023, 87 PHPT patients underwent surgery, and 66 had a single PA. We performed preoperative conventional ultrasonography with CDU, MIBI scintigraphy, and DFI for 42 patients (5 males and 37 females; mean age: 61.6 ± 15.4 years). RESULTS: MIBI scintigraphy detected PA in 85.7% (36/42) patients, and both CDU and DFI detected PA in all patients. The rates of vascularity in PA detected by CDU and DFI were 71.4% (30/42) and 85.7% (36/42), respectively. Vascularity was detected by DFI in 6 patients who were negative for vascularity on MIBI scintigraphy. Furthermore, DFI detected blood supply in 6 of the 12 patients with undetectable blood supply on CDU. Fisher's exact test revealed that high or low blood flow, as determined by DFI, was significantly associated with detection of feeding vessels in PA by CDU (P < 0.001). CONCLUSIONS: DFI was useful for preoperative detection of PA blood flow.


Adenoma , Hyperparathyroidism, Primary , Parathyroid Neoplasms , Ultrasonography, Doppler, Color , Humans , Female , Male , Middle Aged , Parathyroid Neoplasms/diagnostic imaging , Parathyroid Neoplasms/surgery , Parathyroid Neoplasms/complications , Hyperparathyroidism, Primary/diagnostic imaging , Hyperparathyroidism, Primary/surgery , Aged , Ultrasonography, Doppler, Color/methods , Adenoma/diagnostic imaging , Radionuclide Imaging/methods , Technetium Tc 99m Sestamibi , Adult , Blood Flow Velocity
6.
Cancer Med ; 13(10): e7290, 2024 May.
Article En | MEDLINE | ID: mdl-38770646

BACKGROUND: This study aimed to establish the standardized procedure of trans-areola single site endoscopic parathyroidectomy (TASSEP), and to compare the performance of TASSEP with that of conventional open parathyroidectomy (COP). METHODS: This study enrolled 40 patients with primary hyperparathyroidism (PHPT) who underwent TASSEP, and included 40 of 176 PHPT patients who underwent COP based on propensity score matching. The retrospective analysis was conducted based on prospectively collected data. Perioperative outcomes, including surgical profile, surgical burden and cosmetic results and follow-up were reported. The learning curve was described using a cumulative sum (CUSUM) analysis. RESULTS: 40 TASSEPs were completed successfully without conversions or severe complications. There was no statistically significant difference in operation time between TASSEP and COP groups (80.83 ± 11.95 vs. 76.95 ± 7.30 min, p = 0.084). Experience of 17 cases was necessitated to reach the learning curve of TASSEP. Postoperative pain score and traumatic index (C-reactive protein and erythrocyte sedimentation rate) in TASSEP were apparently lower than those in COP group (p < 0.05). During the proliferation and stabilization phases, TASSEP was associated with significantly better incision recovery and cosmetic scores. Postoperative serum calcium and PTH levels throughout the follow-up period indicated satisfactory surgical qualities in both groups. CONCLUSION: Based on precise preoperative localization and intraoperative planning facilitated by three-dimensional (3D) virtual modeling, TASSEP can be feasibly performed on selected patients with satisfactory success rates and low complication rates, providing preferable cosmetic results and alleviating the surgical burden to a certain extent.


Parathyroid Neoplasms , Parathyroidectomy , Humans , Parathyroidectomy/methods , Male , Female , Middle Aged , Parathyroid Neoplasms/surgery , Parathyroid Neoplasms/pathology , Retrospective Studies , Adenoma/surgery , Adenoma/pathology , Endoscopy/methods , Treatment Outcome , Adult , Hyperparathyroidism, Primary/surgery , Aged , Propensity Score , Operative Time
7.
J Cardiothorac Surg ; 19(1): 228, 2024 Apr 16.
Article En | MEDLINE | ID: mdl-38627802

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.


Mediastinum , Parathyroid Neoplasms , Humans , Mediastinum/surgery , Parathyroid Neoplasms/diagnostic imaging , Parathyroid Neoplasms/surgery , Parathyroid Glands/surgery , Parathyroidectomy/methods , Thoracic Surgery, Video-Assisted/methods
8.
Med Sci Monit ; 30: e944128, 2024 Apr 16.
Article En | MEDLINE | ID: mdl-38622842

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.


Hyperparathyroidism, Primary , Parathyroid Neoplasms , Humans , Parathyroidectomy/methods , Hyperparathyroidism, Primary/surgery , Retrospective Studies , Parathyroid Neoplasms/surgery , Endoscopy , Minimally Invasive Surgical Procedures/methods
9.
J Cardiothorac Surg ; 19(1): 177, 2024 Apr 04.
Article En | MEDLINE | ID: mdl-38575949

BACKGROUND: Hyperparathyroidism (HPT) is a disease caused by hypersecretion of one or more parathyroid glands, it can be associated with ectopic mediastinal parathyroid glands (MEPA) in 2% of cases. The use of video-assisted thoracoscopic surgery (VATS) for the surgical resection of these glands is a safe, cost-effective, and low morbidity option for patients with MEPA. We report a case series of patients with this disease managed with VATS, the first in Mexico and Latinamerica. METHODS: From 2008 to 2022, a retrospective study involving patients with MEPA and treated by VATS approach was performed in a tertiary hospital in Mexico city. Relevant biochemical and clinical variables such as imaging studies, pre and postoperative laboratory results, surgical strategy, outcomes and pathological analysis were analyzed. RESULTS: Four cases of mediastinal parathyroid adenomas causing HPT were included. All patients were female with a median age of 52.5 years-old (range 46-59 years), half of the patients had primary HPT and the others tertiary HPT after kidney transplant. 75% of cases had a MEPA in the medium mediastinum, all had a preoperative positive SPECT-CT 99mTc Sestamibi scan. Mean preoperative PTH was 621.3pg/mL (182-1382pg/mL). All patients successfully underwent parathyroidectomy with a VATS approach, no deaths were reported. CONCLUSIONS: VATS is a minimally invasive surgery that provides adequate access to mediastinal located glands, optimal visualization of mediastinal structures and has a high resection success rate with less complications and morbidity than open approaches.


Parathyroid Neoplasms , Humans , Female , Middle Aged , Male , Parathyroid Neoplasms/diagnostic imaging , Parathyroid Neoplasms/surgery , Parathyroid Neoplasms/pathology , Mediastinum/surgery , Retrospective Studies , Parathyroid Glands/surgery , Parathyroid Glands/pathology , Parathyroidectomy/methods , Technetium Tc 99m Sestamibi
10.
Cancer Rep (Hoboken) ; 7(4): e2047, 2024 Apr.
Article En | MEDLINE | ID: mdl-38577726

BACKGROUND: Parathyroid carcinoma (PC) is a rare endocrine malignancy causing pathological changes such as abnormal bone metabolism, elevated serum calcium, and impaired renal function, and uncontrollable hypercalcemia is the main cause of death in PC patients. The diagnosis of PC is challenging and relying on postoperative histopathology. Radical surgery at the first time is the only effective therapy to cure PC. Hungry bone syndrome (HBS) is a relatively uncommon complication of parathyroidectomy characterized by profound and prolonged hypocalcemia, timely electrolyte monitoring and alternative interventional protocols can prevent symptomatic hypocalcemia. CASE: A 57-year-old man presented with multiple pathological fractures and muscle atrophy as the main symptoms accompanied by bone pain, hypercalcemia, elevated parathyroid hormone (PTH), and an enlarged left-sided neck mass. After consultation of multidisciplinary team, he was treated conservatively with plaster bandage fixation and infusion of intravenous zoledronic acid; and then complete resection of parathyroid mass + removal of involved tissue structures + left thyroid and isthmus lobectomy + lymph node dissection in the VI region in left neck were performed. The postoperative histopathology suggested a diagnosis of parathyroid carcinoma. Calcium and fluid supplementation and oral levothyroxine tablets were given postoperatively. Unexpectedly, the patient's PTH level decreased rapidly at 24 h postoperative, and serum calcium and phosphorus decreased continuously, and he felt numb around perioral sites and fingertips, which considered to be postoperative HBS complicated by parathyroidectomy. Then, a large amount of calcium supplementation and vitamin D were given timely and the patient got better at 1 month postoperatively. At 9-month postoperative, his bone pain and fatigue were significantly relieved compared with before with calcium, phosphorus, and PTH levels at normal range. CONCLUSION: The possibility of parathyroid disease, particularly PC, should be considered in the presence of multiple pathological fractures, muscle atrophy, generalized bone pain, hypercalcemia, and clear neck mass. Radical resection of the tumor lesions at the first surgery is a key element affecting the prognosis of PC, and the effective management of preoperative hypercalcemia and postoperative HBS is also of great significance for improving prognosis.


Fractures, Spontaneous , Hypercalcemia , Hypocalcemia , Parathyroid Neoplasms , Male , Humans , Middle Aged , Hypocalcemia/etiology , Hypocalcemia/complications , Parathyroid Neoplasms/complications , Parathyroid Neoplasms/diagnosis , Parathyroid Neoplasms/surgery , Calcium , Hypercalcemia/complications , Fractures, Spontaneous/complications , Phosphorus , Muscular Atrophy/complications , Pain
11.
BMC Endocr Disord ; 24(1): 53, 2024 Apr 25.
Article En | MEDLINE | ID: mdl-38664758

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.


Hyperparathyroidism, Primary , Parathyroidectomy , Humans , Hyperparathyroidism, Primary/surgery , Hyperparathyroidism, Primary/epidemiology , Hyperparathyroidism, Primary/therapy , Hyperparathyroidism, Primary/diagnosis , Female , Male , Middle Aged , Retrospective Studies , South Africa/epidemiology , Adult , Aged , Parathyroidectomy/statistics & numerical data , Parathyroid Neoplasms/surgery , Parathyroid Neoplasms/epidemiology , Parathyroid Neoplasms/therapy , Parathyroid Neoplasms/complications , Parathyroid Neoplasms/pathology , Parathyroid Hormone/blood , Follow-Up Studies , Disease Management , Treatment Outcome , Prognosis , Calcium/blood
12.
Medicina (B Aires) ; 84(2): 342-346, 2024.
Article En | MEDLINE | ID: mdl-38683521

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.


El hiperparatiroidismo primario (HPTP) se caracteriza por niveles elevados de calcio y hormona paratiroidea (PTH). Sin embargo, la interpretación de pruebas diagnósticas, como los niveles de calcio sérico y PTH, es compleja en mujeres embarazadas. El objetivo de este reporte es presentar un caso de HPTP en una adolescente embarazada, con especial hincapié en una complicación infrecuente, así como en las estrategias diagnósticas y de tratamiento. Una mujer embarazada de 17 años presentó hiperémesis gravídica y síntomas neurológicos, lo que llevó al diagnóstico de trombosis venosa cerebral. Posteriores investigaciones revelaron hipercalcemia y niveles persistentemente elevados de PTH, consistentes con HPTP. Tras la realización de estudios de localización, la paciente fue sometida a una paratiroidectomía de emergencia con diagnóstico de adenoma de paratiroides. Durante el seguimiento, se desarrolló restricción del crecimiento intrauterino y preeclampsia grave, lo que resultó en la necesidad de realizar una cesárea de emergencia. Tanto la madre como el neonato evolucionaron favorablemente. El HPTP es una condición infrecuente en la población embarazada y su diagnóstico puede ser desafiante por la superposición de síntomas con los cambios fisiológicos normales del embarazo. La aparición de complicaciones infrecuentes, como fenómenos trombóticos, resalta la necesidad de un abordaje integral para garantizar la detección y el manejo temprano. En la mayoría de los casos, la paratiroidectomía es el tratamiento de elección.


Hyperparathyroidism, Primary , Parathyroid Neoplasms , Parathyroidectomy , Humans , Female , Pregnancy , Hyperparathyroidism, Primary/complications , Hyperparathyroidism, Primary/diagnosis , Hyperparathyroidism, Primary/surgery , Hyperparathyroidism, Primary/blood , Parathyroid Neoplasms/complications , Parathyroid Neoplasms/surgery , Parathyroid Neoplasms/diagnosis , Adolescent , Adenoma/complications , Adenoma/surgery , Adenoma/diagnosis , Parathyroid Hormone/blood , Pregnancy Complications, Neoplastic/surgery , Pregnancy Complications, Neoplastic/diagnosis , Pregnancy Complications/diagnosis , Hyperemesis Gravidarum/complications , Hyperemesis Gravidarum/diagnosis , Hypercalcemia/etiology , Hypercalcemia/blood , Hypercalcemia/diagnosis , Cesarean Section
13.
Front Endocrinol (Lausanne) ; 15: 1355916, 2024.
Article En | MEDLINE | ID: mdl-38665259

Introduction: 24-Hydroxylase, encoded by the CYP24A1 gene, is a crucial enzyme involved in the catabolism of vitamin D. Loss-of-function mutations in CYP24A1 result in PTH-independent hypercalcaemia with high levels of 1,25(OH)2D3. 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 CYP24A1 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)2D3 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)D3, low levels of 24,25(OH)2D3 and elevated 25(OH)2D3/24,25(OH)2D3 ratios, suggesting a defect in vitamin D catabolism. Molecular analysis of the CYP24A1 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 CYP24A1 mutations. Subsequent molecular testing may contribute to establishing the exact frequency of pathogenic variants of the CYP24A1 gene and introducing personalized treatment.


Adenoma , Hypercalcemia , Parathyroid Neoplasms , Vitamin D3 24-Hydroxylase , Humans , Hypercalcemia/genetics , Female , Middle Aged , Vitamin D3 24-Hydroxylase/genetics , Parathyroid Neoplasms/genetics , Parathyroid Neoplasms/complications , Parathyroid Neoplasms/surgery , Parathyroid Neoplasms/pathology , Adenoma/genetics , Adenoma/complications , Adenoma/pathology , Mutation , Parathyroidectomy
14.
Medicina (Kaunas) ; 60(3)2024 Mar 19.
Article En | MEDLINE | ID: mdl-38541233

Background and Objectives: Primary hyperparathyroidism (pHPT) is a common endocrine disorder caused by excessive production of parathyroid hormone (PTH) leading to elevated calcium levels. Diagnosis is primarily based on biochemical evaluation, and surgery is the curative treatment. Imaging techniques like ultrasound and Tc-99m Sestamibi scintigraphy are used for localization, but selective Internal Jugular Venous (SVS) becomes valuable in cases of inconclusive or conflicting results. This study evaluated the diagnostic efficacy of SVS for localizing parathyroid adenomas in cases where non-invasive radiological diagnostic methods yielded inconclusive results or negative findings despite clinical symptoms suggestive of pHPT. Materials and Methods: In this retrospective study, a total of 28 patients diagnosed with pHPT underwent SVS at a tertiary center known for receiving referrals from 2017 to 2022. The diagnoses were confirmed through biochemical analysis. The SVS results in 22 patients were compared with non-invasive imaging methods, including ultrasound, scintigraphy, and computed tomography with/without contrast material. SVS was indicated when at least two non-invasive diagnostic procedures failed to clearly localize the parathyroid glands or provided ambiguous results. Results: SVS demonstrated higher sensitivity for localizing parathyroid adenomas compared to non-invasive imaging methods, accurately lateralizing the adenoma in 68.18% of cases. Among the SVS findings, 31.8% of patients had negative results, with 9.1% not having clinically proven parathyroid adenoma, while 22.7% had false negative SVS findings but were later confirmed to have adenoma during surgery. Ultrasound correctly identified the location in 45.45% of cases, CT in 27.27%, and scintigraphy in 40.9%. Conclusions: SVS is a valuable diagnostic tool for accurately localizing parathyroid adenomas in patients with inconclusive non-invasive imaging results. It aids in targeted surgical interventions, contributing to improved management and treatment outcomes in primary hyperparathyroidism.


Adenoma , Hyperparathyroidism, Primary , Parathyroid Neoplasms , Humans , Parathyroid Neoplasms/complications , Parathyroid Neoplasms/diagnosis , Parathyroid Neoplasms/surgery , Hyperparathyroidism, Primary/diagnosis , Hyperparathyroidism, Primary/surgery , Retrospective Studies , Parathyroid Glands , Technetium Tc 99m Sestamibi , Adenoma/complications , Adenoma/diagnosis , Adenoma/surgery
15.
Surgery ; 175(5): 1299-1304, 2024 May.
Article En | MEDLINE | ID: mdl-38433078

BACKGROUND: Preoperative imaging before parathyroidectomy can localize adenomas and reduce unnecessary bilateral neck explorations. We hypothesized that (1) the utility of preoperative imaging varies substantially depending on the preoperative probability of having adenoma(s) and (2) that a selective imaging approach based on this probability could avoid unnecessary patient costs and radiation. METHODS: We analyzed 3,577 patients who underwent parathyroidectomy for primary hyperparathyroidism from 2001 to 2022. The predicted probability of patients having single or double adenoma versus hyperplasia was estimated using logistic regression. We then estimated the relationship between the predicted probability of single/double adenoma and the likelihood that sestamibi or 4-dimensional computed tomography was helpful for operative planning. Current Medicare costs and published data on radiation dosing were used to calculate costs and radiation exposure from non-helpful imaging. RESULTS: The mean age was 62 ± 13 years; 78% were women. Adenomas were associated with higher mean calcium (11.2 ± 0.74 mg/dL) and parathyroid hormone levels (140.6 ± 94 pg/mL) than hyperplasia (9.8 ± 0.52 mg/dL and 81.4 ± 66 pg/mL). The probability that imaging helped with operative planning increased from 12% to 65%, as the predicted probability of adenoma increased from 30% to 90%. For every 10,000 patients, a selective approach to imaging that considered the preoperative probability of having adenomas could save patients up to $3.4 million and >239,000 millisieverts of radiation. CONCLUSION: Rather than imaging all patients with primary hyperparathyroidism, a selective strategy that considers the probability of having adenomas could reduce costs and avoid excess radiation exposure.


Adenoma , Hyperparathyroidism, Primary , Parathyroid Neoplasms , United States , Humans , Female , Aged , Middle Aged , Male , Parathyroidectomy/methods , Hyperparathyroidism, Primary/diagnostic imaging , Hyperparathyroidism, Primary/surgery , Parathyroid Neoplasms/diagnostic imaging , Parathyroid Neoplasms/surgery , Technetium Tc 99m Sestamibi , Hyperplasia/diagnostic imaging , Medicare , Radiopharmaceuticals , Parathyroid Hormone , Adenoma/diagnostic imaging , Adenoma/surgery
17.
Am Surg ; 90(7): 1919-1921, 2024 Jul.
Article En | MEDLINE | ID: mdl-38520268

Ectopic parathyroid adenomas are an uncommon etiology of primary hyperparathyroidism. We present a case of a patient admitted to the hospital with severe hypercalcemia and elevated parathyroid hormone levels, in whom imaging revealed two distinct parathyroid masses in the prevertebral space, representing a rare and atypical location for parathyroid tissue. This case highlights the importance of considering ectopic parathyroid adenomas as a potential cause of hyperparathyroidism and discusses the diagnostic challenges and management strategies associated with such cases.


Adenoma , Parathyroid Neoplasms , Humans , Parathyroid Neoplasms/surgery , Parathyroid Neoplasms/complications , Parathyroid Neoplasms/diagnosis , Adenoma/surgery , Adenoma/complications , Adenoma/pathology , Choristoma/complications , Choristoma/surgery , Choristoma/diagnosis , Female , Hyperparathyroidism, Primary/etiology , Hyperparathyroidism, Primary/surgery , Hyperparathyroidism, Primary/diagnosis , Hyperparathyroidism, Primary/complications , Middle Aged , Male , Parathyroid Glands/diagnostic imaging , Parathyroid Glands/pathology , Parathyroidectomy , Hypercalcemia/etiology
18.
Endocr Pract ; 30(6): 564-568, 2024 Jun.
Article En | MEDLINE | ID: mdl-38556080

OBJECTIVE: In contrast to adults, primary hyperparathyroidism (PHPT) in children and adolescents is a rare endocrine disorder. METHODS: A retrospective review of PHPT cases between 2005 and 2022 from a single tertiary university medical center, including clinical signs and symptoms, laboratory findings, radiological evaluation, treatment, and postoperative complications. RESULTS: Ten children (mean age at diagnosis 16.3 ± 1.3 years) were diagnosed with PHPT. All patients were in late pubertal stages without sex predominance and 8 were symptomatic. Mean calcium level was 13.6 ± 2.5 mg/dL, and mean parathyroid hormone levels were 204.8 ± 163.1 pg/mL. Parathyroid adenoma was confirmed by the postsurgical pathology results. CONCLUSIONS: PHPT in children and adolescents is often symptomatic and more severe than adults. The main cause is single parathyroid adenoma. Associated hypercalcemic syndromes were not found. Patients were cured after surgical removal of the adenoma without significant postoperative complications and no recurrence during 10.4 ± 5.9 years follow-up.


Adenoma , Hyperparathyroidism, Primary , Parathyroid Neoplasms , Humans , Adolescent , Parathyroid Neoplasms/complications , Parathyroid Neoplasms/surgery , Parathyroid Neoplasms/diagnosis , Female , Male , Hyperparathyroidism, Primary/surgery , Hyperparathyroidism, Primary/diagnosis , Hyperparathyroidism, Primary/etiology , Hyperparathyroidism, Primary/complications , Retrospective Studies , Adenoma/complications , Adenoma/surgery , Adenoma/diagnosis , Child , Parathyroid Hormone/blood
19.
Head Neck ; 46(7): 1788-1794, 2024 Jul.
Article En | MEDLINE | ID: mdl-38362817

BACKGROUND: Patients with nonlocalizing hyperparathyroidism pose a significant challenge to surgeons when undergoing neck exploration for parathyroidectomy. METHODS: We evaluated 536 patients that had parathyroidectomy for primary hyperparathyroidism (PHPT) from 2005 to 2018 at a single tertiary academic center, and 155 (29%) had standard nonlocalizing preoperative imaging (negative ultrasound and sestamibi scans). RESULTS: There were a total of 102 (66%) non-ectopic single adenomas in the nonlocalizing group and 325 (85%) single adenomas in the localizing group. There was no significant difference (p = 0.09) in adenoma quadrant between localizing and nonlocalizing single adenomas, but the most common location in both groups was right inferior. Patients with nonlocalizing scans were more likely to have double adenomas (21% vs. 9%, p < 0.001), ectopic glands (10% vs. 5%, p = 0.052), and multi-gland disease (13% vs. 8%, p = 0.002). CONCLUSION: Nonlocalizing PHPT patients experienced similar cure and complication rates as localizing PHPT, but required more bilateral explorations and increased operative time.


Adenoma , Hyperparathyroidism, Primary , Parathyroid Neoplasms , Parathyroidectomy , Humans , Female , Male , Middle Aged , Hyperparathyroidism, Primary/surgery , Hyperparathyroidism, Primary/diagnostic imaging , Retrospective Studies , Parathyroid Neoplasms/surgery , Parathyroid Neoplasms/diagnostic imaging , Parathyroid Neoplasms/complications , Aged , Adenoma/surgery , Adenoma/diagnostic imaging , Adenoma/pathology , Hospitals, High-Volume , Technetium Tc 99m Sestamibi , Adult , Treatment Outcome
20.
Ann Otol Rhinol Laryngol ; 133(4): 441-448, 2024 Apr.
Article En | MEDLINE | ID: mdl-38321924

OBJECTIVE: Primary hyperparathyroidism (PHPT) affects approximately 0.86% of the population, with surgical resection as the treatment of choice. A 4D computed tomography (CT) is a highly effective tool in localizing parathyroid adenomas; however, there is currently no defined role for 4D CT when stratified against ultrasonography (USG) and nuclear medicine Technetium Sestamibi SPECT/CT (SES) imaging. STUDY DESIGN: Retrospective Study. SETTING: University Hospital. METHODS: All patients who underwent parathyroidectomy for PHPT between 2014 and 2019 at a single institution were reviewed. Patients who had a 4D CT were included. We compared outcomes of 4D CT as a second line imaging modality to those of USG and SES as first line modalities. An imaging algorithm was proposed based on these findings. RESULTS: There were 84 patients identified who had a 4D CT after unsuccessful first line imaging. A 4D CT localized parathyroid adenoma to the correct quadrant in 64% of cases, and to the correct laterality in 75% of cases. Obese patients had significantly lower rates of adenoma localization with USG (33.4%), compared to non-obese patients (67.5%; P = .006). In determining multigland disease the sensitivity of 4D CT was 86%, while the specificity was 87%. CONCLUSIONS: A 4D CT has impressive rates of accurate localization of parathyroid adenomas; however due to the radiation exposure involved, it should remain a second line imaging modality. PHPT patients should first be evaluated with USG, with 4D CT used if this is unsuccessful and patients are greater than 40 years old, have a high BMI, or are having revision surgery.


Hyperparathyroidism, Primary , Parathyroid Neoplasms , Humans , Adult , Parathyroid Neoplasms/diagnostic imaging , Parathyroid Neoplasms/surgery , Parathyroid Glands , Four-Dimensional Computed Tomography/methods , Hyperparathyroidism, Primary/diagnostic imaging , Hyperparathyroidism, Primary/surgery , Retrospective Studies , Parathyroidectomy/methods , Radiopharmaceuticals , Sensitivity and Specificity
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