Guidelines recommending genetic counseling in primary hyperparathyroidism (PHPT) vary. To further delineate current recommendations, this study examined genetic counseling referral patterns and rates of mutations in surgical patients with PHPT.A single-institution review was performed of adult patients who underwent parathyroidectomy for presumed sporadic PHPT. Genetic testing indications of hypercalcemia onset ≤ 40 years, multigland disease (MGD), family history (FHx) of PHPT, or other clinical indications suspicious for a PHPT-related endocrinopathy were examined by demographics and mutation detection rates.Genetic counseling was performed in 237 (37.9%) of 625 patients. Counseling was discussed but not performed in 121 (19.4%) patients. No evidence was noted of genetic referral discussion in the remaining 267 (42.7%). Of these groups, patients who received genetic counseling were youngest, p < 0.001 [median age 55.3 (IQR 43.2, 66.7) years]. The majority of patients with indications of age ≤ 40 years (65.7%), FHx (78.0%), and other clinical indications (70.7%) underwent genetic counseling, while most with MGD (57.0%) did not. Eight mutations were detected in 227 patients (3.5%). Mutations included: MEN1 (n = 2), CDC-73 (n = 4), and CASR (n = 2). Detection was most common in patients with FHx (4/71, 5.6%), then age ≤ 40 years (3/66, 4.5%), and other clinical indications (3/80, 3.8%). No mutations were identified in 48 patients tested solely for MGD.Most patients with onset of hypercalcemia age ≤ 40 years, positive FHx, or other clinical concerns underwent genetic counseling, while most with MGD did not. As no germline mutations were identified in patients with MGD alone, further investigation of MGD as a sole indication for genetic counseling may be warranted.© 2024. Society of Surgical Oncology.

To investigate multiphase multidetector four-dimensional computed tomography (CT) as a technique to correctly localize abnormal parathyroid glands in patients with primary hyperparathyroidism.Informed consent was waived by the institutional review body for this retrospective, chart review study. Radiology reports from four-dimensional CT and surgical notes were reviewed in 143 patients with primary hyperparathyroidism (35 men, 108 women; median ages, 58 and 60 years, respectively) who underwent parathyroid surgery between August 2004 and January 2007 and in whom four-dimensional CT predicted a single lesion. Accuracy of four-dimensional CT was stratified by patient and was determined separately for localization to the correct side and quadrant (upper and lower for each side), with surgical findings serving as standard of reference.In 143 patients, 148 abnormal parathyroid glands were found at surgery; 137 (93%) of these were weighed, with mean and median weights of 757 and 417 mg, respectively. Four-dimensional CT lateralized the abnormal glands with 93.7% accuracy (134 of 143). For localization according to quadrant, the accuracy was 86.6% (116 of 134).Four-dimensional CT has sufficiently high accuracy in presurgical localization to allow confident performance of unilateral parathyroidectomy in patients with sporadic primary hyperparathyroidism. The superior accuracy compared with that of ultrasonography and technetium 99m sestamibi scanning may be sufficient to allow four-dimensional CT to be used as the sole presurgical localization method.© RSNA, 2012

Parathyroid four-dimensional (4D) CT is an increasingly used and powerful tool for preoperative localization of abnormal parathyroid tissue in the setting of primary hyperparathyroidism. Accurate and precise localization of a single adenoma facilitates minimally invasive parathyroidectomy, and localization of multiglandular disease aids bilateral neck exploration. However, many radiologists find the interpretation of these examinations to be an intimidating challenge. The authors review parathyroid 4D CT findings of typical and atypical parathyroid lesions and provide illustrative examples. Relevant anatomy, embryology, and operative considerations with which the radiologist should be familiar to provide clinically useful image interpretations are also discussed. The most important 4D CT information to the surgeon includes the number, size, and specific location of candidate parathyroid lesions with respect to relevant surgical landmarks; the radiologist's opinion and confidence level regarding what each candidate lesion represents; and the presence or absence of ectopic or supernumerary parathyroid tissue, concurrent thyroid pathologic conditions, and arterial anomalies associated with a nonrecurrent laryngeal nerve. The authors provide the radiologist with an accessible and practical approach to performing and interpreting parathyroid 4D CT images, detail what the surgeon really wants to know from the radiologist and why, and provide an accompanying structured report outlining the key information to be addressed. By accurately reporting and concisely addressing the key information the surgeon desires from a parathyroid 4D CT examination, the radiologist substantially impacts patient care by enabling the surgeon to develop and execute the best possible operative plan for each patient. RSNA, 2020.

A uniform and reliable description of the exact locations of adenomatous parathyroid glands is necessary for accurate communications between surgeons and other specialists. We developed a nomenclature that provides a precise means of communicating the most frequently encountered parathyroid adenoma locations.This classification scheme is based on the anatomic detail provided by imaging and can be used in radiology reports, operative records, and pathology reports. It is based on quadrants and anterior-posterior depth relative to the course of the recurrent laryngeal nerve and the thyroid parenchyma. The system uses the letters A-G to describe exact gland locations.A type A parathyroid gland is a gland that originates from a superior pedicle, lateral to the recurrent laryngeal nerve compressed within the capsule of the thyroid parenchyma. A type B gland is a superior gland that has fallen posteriorly into the tracheoesophageal groove and is in the same cross-sectional plane as the superior portion of the thyroid parenchyma. A type C gland is a gland that has fallen posteriorly into the tracheoesophageal groove and on a cross-sectional view lies at the level of or below the inferior pole of the thyroid gland. A type D gland lies in the midregion of the posterior surface of the thyroid parenchyma, near the junction of the recurrent laryngeal nerve and the inferior thyroid artery or middle thyroidal vein; because of this location, dissection is difficult. A type E gland is an inferior gland close to the inferior pole of the thyroid parenchyma, lying in the lateral plane with the thyroid parenchyma and anterior half of the trachea. A type F gland is an inferior gland that has descended (fallen) into the thyrothymic ligament or superior thymus; it may appear to be "ectopic" or within the superior mediastinum. An anterior-posterior view shows the type F gland to be anterior to the trachea. A type G gland is a rare, truly intrathyroidal parathyroid gland.A reproducible nomenclature can provide a means of consistent communication about parathyroid adenoma location. If uniformly adopted, it has the potential to reliably communicate exact gland location without lengthy descriptions. This system may be beneficial for surgical planning as well as operative and pathology reporting.

We have developed a nomenclature system that succinctly specifies the locations of parathyroid adenomas in the neck. We report our experience using the system in a large, contemporary cohort of patients.A prospective, endocrine surgery database at a single, tertiary care center was retrospectively analyzed. We reviewed the records of 271 patients operated on for sporadic primary hyperparathyroidism between January 2006 and May 2008 and analyzed the effect of adenoma location at operative intervention and outcome.Adenomatous gland locations were classified intraoperatively as: A (adherent to posterior thyroid capsule) in 12.5% of cases; B (tracheoesophageal groove) in 17.3%; C TE groove but (close to clavicle) in 13.7%; D (directly over the recurrent laryngeal nerve) in 12.2%; E (easy to identify, inferior thyroid pole) in 25.8%; F (fallen into thymus) in 7.4%; and G gauge (within thyroid gland) in 0.4%. More than one enlarged gland was present in 10.7% of patients and usually involved coexistence of enlarged types A and E glands. Type F glands were associated with a longer mean operative time (p = 0.0487) and type E glands with a higher rate of outpatient surgery (p = 0.0195). At 6 months from the surgery, 94.5% of the patients were normocalcemic.Our nomenclature system provides a simple way to describe the locations of parathyroid adenomas. Type E adenomas were associated with a higher rate of outpatient surgery and type F adenomas with a longer operative time. Biochemical cure rates were comparable for all locations of single adenomas.

Recurrent primary hyperparathyroidism (PHPT) presents a diagnostic challenge in localizing a hyperfunctioning gland. Although several imaging modalities are available for preoperative localization, 4D-CT is increasingly utilized for its ability to locate both smaller and previously unlocalized lesions. Currently, there is a paucity of data evaluating the utility of 4D-CT in the reoperative setting compared with ultrasound (US) and sestamibi. We aimed to determine the sensitivity of 4D-CT in localizing parathyroid adenomas in recurrent or persistent PHPT.We performed a retrospective review of prospectively collected data from a tertiary-care hospital, and identified 58 patients who received preoperative 4D-CT with US and/or sestamibi between May 2008 and March 2016. Data regarding the size, shape, and number of parathyroid lesions were collected for each patient.A total of 62 lesions were identified intraoperatively among the 58 patients (6 with multigland disease) included in this investigation. 4D-CT missed 13 lesions identified intraoperatively, compared with 32 and 22 lesions missed by US and sestamibi, respectively. Sensitivity for correct lateralization of culprit lesions was 77.4% for 4D-CT, 38.5% for US, and 46% for sestamibi. 4D-CT was superior in lateralizing adenomas (49/62) compared with US (20/52; p < 0.001) and sestamibi (18/47; p < 0.001). The overall cure rate (6-month postoperative calcium < 10.7 mg/dL) was 89.7%. All patients with lesions correctly lateralized by 4D-CT were cured at 6 months.4D-CT localized parathyroid adenomas with higher sensitivity among patients with recurrent or persistent PHPT compared with sestamibi or US-based imaging.

To evaluate 4-dimensional (4D) computed tomography (CT) for the localization of parathyroid adenomas previously considered nonlocalizing on ultrasound and single-photon emission CT with CT scanning (SPECT-CT). To measure radiation exposure associated with 4D-CT and compared it with SPECT-CT.Case series with chart review.University tertiary hospital.Nineteen adults with primary hyperparathyroidism who underwent preoperative 4D CT from November 2013 through July 2014 after nonlocalizing preoperative ultrasound and technetium-99m SPECT-CT scans. Sensitivity, specificity, predictive values, and accuracy of 4D CT were evaluated.Nineteen patients (16 women and 3 men) were included with a mean age of 66 years (range, 39-80 years). Mean preoperative parathyroid hormone level was 108.5 pg/mL (range, 59.3-220.9 pg/mL), and mean weight of the excised gland was 350 mg (range, 83-797 mg). 4D CT sensitivity and specificity for localization to the patient's correct side of the neck were 84.2% and 81.8%, respectively; accuracy was 82.9%. The sensitivity for localizing adenomas to the correct quadrant was 76.5% and 91.5%, respectively; accuracy was 88.2%. 4D CT radiation exposure was significantly less than the radiation associated with SPECT-CT (13.8 vs 18.4 mSv, P = 0.04).4D CT localizes parathyroid adenomas with relatively high sensitivity and specificity and allows for the localization of some adenomas not observed on other sestamibi-based scans. 4D CT was also associated with less radiation exposure when compared with SPECT-CT based on our study protocol. 4D CT may be considered as first- or second-line imaging for localizing parathyroid adenomas in the setting of primary hyperparathyroidism.© American Academy of Otolaryngology—Head and Neck Surgery Foundation 2015.