Diagnosis Of Primary Hyperparathyroidism Research Articles

A giant parathyroid cyst causing primary hyperparathyroidism in a pregnant woman: Case report and literature review

Introduction Primary hyperparathyroidism (PHPT) during pregnancy is rare, with the commonest cause being parathyroid adenoma. Parathyroid cysts represent 0.5% of parathyroid lesions. The diagnosis of PHPT requires elevated levels of calcium, along with elevated or non-suppressed parathormone levels. Conservative treatment prevails unless hypercalcemia persists. Case A 33-week pregnant woman with preeclampsia and a cervical tumor was diagnosed with PHPT due to a functioning cystic adenoma. She underwent a caesarean section at 36 weeks, delivering a low-birthweight live newborn. Six months post-caesarean section the patient underwent right inferior parathyroidectomy and right hemithyroidectomy, with histopathological findings consistent with a giant cyst parathyroid adenoma. At review three months. after surgery, there are no signs of the persistence of the disease. Conclusion A giant functional parathyroid cyst causing PHPT and being identified in pregnancy is exceedingly rare. It is crucial to have a timely multidisciplinary diagnosis and management to avoid maternal and fetal complications.

Topographic diagnosis of primary hyperparathyroidism

Topographic diagnosis of primary hyperparathyroidism

Evaluation of the thiazide challenge test to differentiate primary from hypercalciuria-related hyperparathyroidism.

treatment of primary hyperparathyroidism (PHPT) and secondary hyperparathyroidism due to idiopathic hypercalciuria (SHPT-IH) is markedly different. Robust diagnostic tools to differentiate between both entities are however lacking. evaluate the thiazide challenge test (TCT) in clinical practice, its aid in clinical decision making, evaluate the accuracy (sensitivity, specificity) and potentially useful parameters of the TCT. monocentric observational retrospective cohort study from January 2017 to November 2023. outpatient, Ghent University Hospital (Belgium). 25 adult patients with hypercalciuria, elevated parathyroid hormone (PTH), and high-normal or elevated serum calcium that underwent a TCT. TCT. serum, urinary biochemical parameters before and after testing, clinical and imaging outcomes, treatment, and follow-up. patients with a TCT-based working diagnosis of PHPT show greater increases in albumin-adjusted calcium and total serum calcium concentration than patients with SHPT-IH (+0,11 ± 0,10 vs. + 0,0071 ± 0,10mmol/l; p = 0,025 and +0,14 ± 0,12 vs. + 0,012 ± 0,15mmol/l; p = 0,024 respectively). The TCT-based working diagnosis of PHPT has a sensitivity of 81,8%, a specificity of 77,8% and a likelihood ratio of 3,68 of estimating a correct final diagnosis.Urinary calcium excretion, PTH, calcium-phosphorous ratio, PTH-inhibition rate, and parathyroid function index do not differ significantly in patients with PHPT compared to those with SHPT-IH. the TCT aids in discriminating patients with PHPT from those with SHPT-IH based on a rise in serum calcium. Other parameters are not different between both groups. Larger prospective trials are necessary to further define the diagnostic potential of the TCT, its most appropriate biochemical outcome variables, and decision cut-offs.

Comparison of normocalcemic versus hypercalcemic primary hyperparathyroidism in a hypercalciuric renal stone population.

Primary hyperparathyroidism (PHPT) is commonly diagnosed in the setting of hypercalcemia, whereas normocalcemic primary hyperparathyroidism (NHPT) may be misdiagnosed. Our objective was to compare hypercalcemic hyperparathyroidism (HPHPT) versus NHPT hypercalciuric renal stone patients. We took advantage of a routine calcium load test performed in hypercalciuric renal stone patients to assess retrospectively among PHPT patients, prevalence and characteristics of NHPT and HPHPT under a calcium restricted diet. Among 1671 hypercalciuric patients included, 91 patients have a final diagnosis of PHPT(post load ionized calcium (iCa)>1.31 mmol/L and PTH>30 pg/ml). Prevalence of NHPT is 40% of all PHPT, however according to total serum calcium 4/35 NHPT and 7/56 HPHPT would have been misclassified in the other group. 18/35 NHPT and 40/56 HPHPT underwent parathyroidectomy. No significant characteristics related to parathyroid weight, stone composition or bone remodeling biomarkers is detected between groups. Whereas iCa is higher in HPHPT in fasting state and after calcium load, we found no difference for calcium diet, 24-hour calciuria, or calcitriol. Of notice, renal calcium excretion (FECa) post load increases by 303% in NHPT but only 176% in HPHPT (p=0.01) likely explained by a lesser PTH decrease (p=0.02). However, a strong negative association (p<0.0001) detected between pooled pre and post load iCa and PTH only in NHPT group suggests a persistent efficient PTH-CaSR control within parathyroid glands in this group. Our data show the relevance of dynamic tests to unmask NHPT in hypercalciuric renal stone patients.

Comparative Analysis of Diagnostic Efficacy in Primary Hyperparathyroidism: A Comparison Analysis of 11C-Choline PET/CT, Neck Ultrasonography, 99mTc-MIBI Dual-Phase Planar Scintigraphy, and 99mTc-MIBI SPECT/CT Imaging.

Objective: To compare the diagnostic efficacy of 11C-choline PET/CT, neck ultrasonography, 99mTc-MIBI dual-phase planar scintigraphy, and 99mTc-MIBI SPECT/CT imaging in the diagnosis of primary hyperparathyroidism (PHPT). Methods: We conducted a retrospective analysis of 32 patients with PHPT who visited the Nuclear Medicine Department of Jilin University China-Japan Union Hospital between January 2019 and December 2022. All patients underwent 11C-choline PET/CT, neck ultrasonography, 99mTc-MIBI dual-phase planar scintigraphy, and 99mTc-MIBI SPECT/CT examinations within two months before surgery. Sensitivity, specificity, positive predictive value, and negative predictive value of each imaging study were compared using postoperative pathology and follow-up results. Diagnostic efficacy was further analyzed using ROC curve analysis. Factors influencing on 99mTc-MIBI imaging were also investigated. Results: A total of 35 lesions were resected in the 32 patients. The diagnostic sensitivity of 11C-choline PET/CT, neck ultrasonography, 99mTc-MIBI dual-phase planar scintigraphy, and 99mTc-MIBI SPECT/CT was 88.2%, 52.9%, 58.8%, and 67.6%, respectively. Specificity was 96.8%, 95.7%, 96.8%, and 95.7%, respectively. Positive predictive values were 90.9%, 81.8%, 86.9%, and 85.2%, respectively, and negative predictive values were 95.7%, 84.9%, 86.7%, and 89.1%, respectively. The areas under the ROC curve (AUC) were 0.925, 0.743, 0.778, and 0.817, respectively. Among them, 11C-choline PET/CT had higher sensitivity and AUC than other imaging studies (p<0.05), while specificity, positive predictive value, and negative predictive value were similar (p>0.05). The positive group in 99mTc-MIBI SPECT/CT imaging had significantly larger lesion diameters than the negative group (P<0.05), while preoperative blood calcium and PTH showed no statistical differences (P>0.05). Conclusion: 11C-choline PET/CT demonstrates superior preoperative diagnostic efficacy for PHPT compared to neck ultrasonography, 99mTc-MIBI dual-phase planar scintigraphy, and 99mTc-MIBI SPECT/CT. Lesion size may be the primary factor affecting the sensitivity of 99mTc-MIBI imaging.

The Ca∗Cl/P Ratio: A Novel and More Appropriate Screening Tool for Normocalcaemic or Overt Primary Hyperparathyroidism

ObjectiveThe main purpose of this study was to explore the diagnostic performance of the Ca∗Cl/P ratio for primary hyperparathyroidism (PHPT), especially normocalcaemic PHPT (NPHPT), to assist health care providers in making reliable and rapid clinical identifications. MethodsFrom January 1, 2013, to March 31, 2023, 230 PHPT patients, including 65 with NPHPT and 230 sex- and age-matched controls, were enrolled in this retrospective study. Differences between hypercalcaemic PHPT (HPHPT) and NPHPT and between them and their respective controls were analyzed. The diagnostic accuracy of the Ca∗Cl/P ratio, Ca/P ratio, Cl/P ratio and albumin-corrected calcium was assessed by the area under the receiver operating characteristic curve. ResultsCompared with corresponding controls, NPHPT and HPHPT patients both had significantly higher Ca ∗ Cl/P ratios (271.64 ± 51.74 vs 192.71 ± 26; 419.91 ± 139.11 vs 199.14 ± 36.75, P < .001). In the overall cohort, the ROC-AUC of the Ca∗Cl/P ratio (0.964, 95% CI = 0.943-0.979) for diagnosis of PHPT patients was superior to albumin-corrected calcium (0.959, 95% CI = 0.934-0.973), the Ca/P ratio (0.956, 95% CI = 0.934-0.973), and the Cl/P ratio (0.923, 95% CI = 0.895-0.946). A Ca ∗ Cl/P ratio above 239.17 mmol/L, with sensitivity (0.952), specificity (0.922), PPV (0.924), NPV (0.951) and accuracy (0.937), can distinguish PHPT patients from healthy individuals. Furthermore, the Ca ∗ Cl/P ratio yielded a sensitivity of 0.831, specificity of 0.938, PPV of 0.931, NPV of 0.847 and accuracy of 0.885 for NPHPT. ConclusionThe Ca∗Cl/P ratio provides excellent diagnostic power for diagnosis of PHPT, especially NPHPT.

Serum gastrin concentrations in dogs with primary hyperparathyroidism.

Hypercalcemia has been associated with hypergastrinemia in humans. Hypergastrinemia could be responsible for gastrointestinal (GI) signs in dogs with primary hyperparathyroidism (PHPT). (a) Determine whether hypergastrinemia occurs in dogs with PHPT, (b) assess for potential correlations among ionized calcium (iCa), parathyroid hormone (PTH), and serum gastrin concentrations, and (c) determine whether gastrin concentrations decrease after management of PHPT. Phase 1: 151 client-owned dogs at the time of PHPT diagnosis, Phase 2: 24 dogs that underwent treatment for PHPT. Dogs with azotemia, concurrent disease, or those receiving acid suppressants were excluded. Twenty-four treated dogs had baseline and repeat quantification of serum gastrin, PTH, and iCa concentrations 4 weeks after treatment. The effect of treatment on gastrin, iCa, and PTH concentrations was assessed using Wilcoxon signed rank sum tests. Fisher exact testing was used to compare the proportion of dogs with hypergastrinemia in dogs with and without GI signs. Twenty-seven of 151 PHPT dogs (17.9%) had increased pre-treatment serum gastrin concentrations (median, 45.0 ng/L; interquartile range [IQR], 20.0 ng/L). Gastrin concentrations were not correlated with iCa (P = .92) or PTH (P = .60). Treatment of PHPT decreased PTH (P < .001) and iCa concentrations (P < .001), but not gastrin concentrations (P = .15). The proportion of dogs with hypergastrinemia with and without GI signs did not differ (P = 1.00). Mild increases in serum gastrin concentrations may be seen in dogs with PHPT, but this finding is independent of the presence of GI signs.

Parathyroid adenoma: multimodal diagnosis capabilities: A retrospective study

Background. Primary hyperparathyroidism is a common endocrinological disease caused mainly by parathyroid adenoma. The main treatment method is surgery (parathyroidectomy). Therefore, the exact determination of adenoma localization is crucial.&#x0D; Aim. To evaluate the current possibilities of multimodal diagnosis of parathyroid adenomas.&#x0D; Materials and methods. A retrospective analysis of 49 patients with primary hyperparathyroidism aged 24 to 82 (median 57.9 years) was performed. Modern radionuclide and hybrid technologies were used for topical diagnosis and metabolic assessment of parathyroid adenomas: scanning, single-photon emission computed tomography, single-photon emission computed tomography combined with computed tomography, positron emission tomography combined with computed tomography with 18F-deoxyglucose and 18F-choline. The diagnosis of primary hyperparathyroidism was confirmed by a biochemical blood test: the level of parathyroid hormone and ionized and total calcium.&#x0D; Results. The study included 43 (87.8%) females and 6 (12.2%) males. The female/male ratio was 7.2:1. Most cases (78.1%) were the hypercalcemic type of primary hyperparathyroidism, and the normocalcemic type was diagnosed in 21.9% of patients. The mean parathyroid hormone level was 145.43 pg/mL, exceeding the reference values by 2.2 times. Parathyroid hormone concentration in patients with primary hyperparathyroidism was 156.38 pg/mL, and mean ionized and total blood calcium levels were 1.43 and 3.04 mmol/L, respectively. The asymptomatic type occurred in 76.7% of patients. The symptomatic type of hyperparathyroidism had 23.3%, manifested with nephrolithiasis, pancreatitis, and bone lesions. Parathyroid adenomas were more often located in the left lobe (42.9%). In 77.6% of patients with primary hyperparathyroidism, solitary adenomas were detected. Ectopia of the parathyroid glands was detected in 16.3% of patients, with intrathyroidal location in the left lobe being the most common. Rare locations include the anterior and posterior mediastinum and the esophageal wall.&#x0D; Conclusion. Modern diagnostic multimodal options based on radionuclide and hybrid technologies are crucial in the personalized treatment of primary hyperparathyroidism.

Social vulnerability and time to surgeon evaluation for primary hyperparathyroidism in a Massachusetts cohort

BackgroundIdentifying patients at risk for under-evaluation of primary hyperparathyroidism is essential to minimizing long-term sequelae, including osteoporosis, nephrolithiasis, and cardiovascular disease. This study assessed the impact of social vulnerability on time-to-surgery evaluation among patients with primary hyperparathyroidism in a Massachusetts cohort. MethodsThis is a retrospective review of patients from an institutional database with the first incident of hypercalcemia between 2010 and 2018 and subsequent biochemical diagnosis of primary hyperparathyroidism. The overall social vulnerability index and social vulnerability index subthemes were merged with the institutional data via patient ZIP code. Patients were stratified into social vulnerability index quartiles, where quartile 4 represented the highest vulnerability. Baseline sociodemographic and clinical characteristics were compared, and Cox regression was used to assess the association between social vulnerability index and time to surgeon evaluation. ResultsOf 1,082 patients included, those with a higher social vulnerability index were less likely to be evaluated by a surgeon (quartile 1 social vulnerability index: 31.1% vs. quartile 2 social vulnerability index: 31.41% vs. quartile 3 social vulnerability index: 25.93% vs. quartile 4 social vulnerability index: 21.92%, P = .03). On adjusted analysis, patients with the highest vulnerability had a 33% lower estimated rate of surgeon evaluation and were seen 67 days later compared with patients with the lowest vulnerability (hazard ratio: 0.67, confidence interval 0.47–0.97, P = .032). Differential rates of surgical evaluation by vulnerability persisted for the social vulnerability index subthemes for socioeconomic status, minority status and language, and housing type and transportation. ConclusionAmong a Massachusetts cohort, highly vulnerable populations with primary hyperparathyroidism are at greater risk for under-evaluation by a surgeon, which may contribute to the development of long-term sequelae of their disease.

Therapeutic and diagnostic algorithm for preoperative prediction of sporadic multigland parathyroid disease

BACKGROUND: Primary hyperparathyroidism (PHPT) is a common endocrinological disease that is characterized by autonomic increased synthesis of parathyroid hormone (PTH) with elevated or upper-normal levels of blood calcium [1]. In 80–85% of cases, the cause of sporadic PHPT is an adenoma of one parathyroid gland (PTG) (sigle-gland parathyroid disease), in 20–25% — a lesion of a larger number of PTGs (hyperplasia of all glands or double adenomas — multigland parathyroid disease) [2]. The complexity of clinical and laboratory prediction, low sensitivity of imaging methods, poor assessment of the radicalness of the operation by intraoperative monitoring of intact PTH (IMiPTH) are the components of the problem of multiple lesions in PHPT. Therefore, the improvement of existing and the development of new methods for diagnosing and treating this variant of the disease are urgent tasks of modern endocrine surgery.AIM: To develop an algorithm for the diagnosis and treatment of PHPT, aimed at preoperative detection of multigland parathyroid disease.MATERIALS AND METHODS: The study was based on a study of a continuous sample of 208 patients, of which 34 with multigland parathyroid disease in PHPT, 95 with single-gland parathyroid disease in PHPT, 69 with secondary hyperparathyroidism on renal replacement therapy (RRT) with hemodialysis, and 10 with tertiary hyperparathyroidism on RRT of LT. The work was performed on the basis of clinical, laboratory, instrumental, morphological and immunohistochemical studies. The nature of the expression of the calcium-sensitive receptor and the vitamin D receptor in the studied groups was studied as a pathogenetic substantiation of the proposed algorithm [3]. Based on the study of clinical and laboratory parameters and the results of preoperative imaging methods, predictors of multigland parathyroid disease in PHPT [4,5] were established, and a method for differential diagnosis of PTG lesions in PHPT was developed [6]. In addition, the results of surgical treatment of patients with multiple PTG lesions in various clinical variants of hyperparathyroidism were studied [7]. RESULTS: The proposed algorithm is used when the diagnosis of PHPT is already established and there are indications for surgical treatment. First of all, the level of GFR (CKD-EPI) is assessed in conjunction with the results of the “gold standard” preoperative imaging methods (ultrasound and scintigraphy), with an assessment of the number of localized increased PTG and the consistency of the results of preoperative methods.At a GFR level of more than 73 ml/min/1.73 m2, an increase of only 1 PTG according to the results of 2 imaging methods, provided that they are consistent, the PHPT variant is defined as a sigle-gland parathyroid disease. If there is an inconsistency between the 2 methods of preoperative imaging, we recommend calculating the scores according to the differential diagnosis scale for multiple lesions in PHPT [6]. At a GFR level of less than 73 ml/min/1.73 m2, an increase of &gt;1 PTG according to the results of 2 imaging methods, we recommend calculating points according to the proposed scale [6].With the established variant of PHPT — sigle-gland parathyroid disease, the patient undergoes selective parathyroidectomy (PTE) with IMiPTH. When iPTH drops to reference values, the test is considered positive, and the operation ends there. If the test result is negative, a second test is required after 10 minutes. In the event that the repeated test is also negative, then the patient is shown a bilateral neck exploration (BNE) in accordance with the tactics for multigland parathyroid disease (see below).With the established variant of PHPT — multigland parathyroid disease, the following tactics are used:BNE with obligatory exploration of all four PTGs;Macroscopic assessment of the PTG found.When making a decision about 2 pathologically changed enlarged PTG, and 2 others are intact and not enlarged, a double PTE with IMiPTH is performed. If after the removal of 2 pathologically altered PTGs, the IMiPTH test is negative, then a second one is necessary after 10 minutes. In the event that the repeated test is negative, then from the 2 recognized intact ones, the least altered is determined and the scope of the operation is expanded to subtotal PTE (3.5 PTG), leaving ½ of the least altered PTG. The operation ends here.When deciding that 3 or more PTG are pathologically changed and enlarged, a subtotal PTE with IMiPTH is performed. In case of a negative IMiPTH test, the places of possible ectopic location of the PTG are examined: thyrothymic ligaments, upper thymus horns, fatty tissue along the carotid arteries. If there are no ectopically located PTGs in the indicated places, the operation is completed.CONCLUSION: The proposed treatment and diagnostic algorithm is pathogenetically substantiated, aimed at preoperative detection of multiple PTG lesions in PHPT and will improve the quality of life of this group of patients by reducing the persistence of the disease.

Primary Hyperparathyroidism and Cardiovascular Disease: An Association Study Using Clinical Natural Language Processing Systems and Big Data Analytics.

Primary hyperparathyroidism (PHPT) seems to be associated with different cardiovascular diseases (CVDs). We evaluated the association of PHPT with major CV risk factors (CVRFs) and CVDs by using artificial intelligence (AI) tools. An observational and retrospective study was conducted using data from the electronic health records (EHRs) of the Hospital Universitario Puerta de Hierro Majadahonda (Spain). Of a total of 699,157 patients over 18 years of age studied (54.7% females), 6515 patients (0.9%; 65.4% women; mean age 67.6 ± 15.9 years) had a diagnosis of PHPT. The overall frequencies of hypertension, dyslipidemia, diabetes mellitus, and smoking habit in the cohort of patients with PTHP were all significantly (p < 0.001) higher than those found in patients without a diagnosis of PTHP. The total frequency of stroke, ischemic heart disease, atrial fibrillation, deep vein thrombosis, and pulmonary embolism in the cohort of PHPT patients were significantly (p < 0.001) higher than that found in patients without the diagnosis of PHPT. A multivariate regression analysis showed that PHPT was significantly (p < 0.001) and independently associated with all the CVDs evaluated. Our data show that there is a significant association between the diagnosis of PHPT and the main CVRFs and CVDs in our hospital population.

The Relationship between Planar and SPECT/CT Parameters and Functional Markers in Primary Hyperparathyroidism.

This study aimed to investigate the relationship between quantitative and volumetric parameters of technetium-99-methoxyisobutylisonitrile (99mTc-MIBI) single-photon emission computed tomography/computed tomography (SPECT/CT) imaging and hormonal and biochemical markers in primary hyperparathyroidism (PHPT) patients with single adenoma. In this retrospective study, 70 patients with a single adenoma who underwent 99mTc-MIBI imaging for the diagnosis of PHPT were examined. Early and delayed MIBI lesion/background ratios (eLBR and dLBR), early and delayed lesion/thyroid ratio (eLTR and dLTR), and retention index (RI) were calculated as planar dual-phase scintigraphy parameters. Adenoma volume (Svol) and parathormone (PTH)/Svol ratio were measured as SPECT/CT-derived parameters. Calcium levels exhibited a positive correlation with eLBR (r = 0.33, p < 0.001), dLBR (r = 0.29, p = 0.01), dLTR (r = 0.31, p < 0.001), and PTH/Svol (r = 0.38, p < 0.001). PTH did not correlate with planar parameters and Svol. Among the imaging parameters, only the PTH/Svol ratio showed a negative correlation with phosphorus levels (r = -0.29, p = 0.02). For predicting disease severity, the PTH/Svol ratio exhibited similar diagnostic performance to PTH and phosphorus levels but outperformed the eLBR and dLBR. Both planar and SPECT-derived parameters can provide valuable insights into the functional status of the parathyroid adenoma and the associated disease severity. PTH/Svol ratio, combining imaging and laboratory findings to provide a more comprehensive approach to patient care, could be an exciting new indicator.

SAT185 Parathyroid Adenoma Localized By Cytogenetic Testing

Abstract Disclosure: S. Khadija: None. A. Rao: None. Introduction: Primary hyperparathyroidism can be caused by a parathyroid adenoma, hyperplasia or rarely by parathyroid carcinoma. Most patients have few or no symptoms. Diagnosis of primary hyperparathyroidism can be challenging in the setting of secondary/tertiary hyperparathyroidism. Correct diagnosis can be reached by clinical evaluation, biochemical and radiological tests. We describe a case that was diagnosed by cytogenetic testing of the biopsy specimen. Case Report: We report a case of a 64-year-old man. He was referred to the endocrine clinic for an incidental thyroid nodule on CT scan. He had hypothyroidism after I-131 treatment for Graves’ disease 15 years back. He had a long history of hypertension with renal failure. He had a renal transplant in 2017 and had hypercalcemia intermittently with elevated PTH since 2012. Ultrasound of thyroid reported a 1.6 x 1.7 x 2.0 cm nodule in the left thyroid lobe. He denied any compressive symptoms and was euthyroid on levothyroxine. An ultrasound guided FNA of the left thyroid nodule was reported as Bethesda III FLUS and sent to Veracyte for Affirma, which indicated a parathyroid adenoma. A sestamibi scan indicated a left lower parathyroid adenoma. He had surgery and intraoperative parathyroid hormone (PTH) dropped from 122pg/ml to 35.8pg/ml(29.1-79.7 pg/ml). Pathology confirmed parathyroid adenoma 3.8 grams in weight. Postoperatively calcium normalized with drop in PTH to 36.1pg/ml. After 2 weeks his calcium remained normal. Discussion: Parathyroid adenoma is a relatively rare condition and causes a majority of cases of primary hyperparathyroidism. A few cases are due to hyperplasia, more common in secondary hyperparathyroidism due to renal disease. Parathyroid adenoma is difficult to diagnose in patients with underlying hyperplasia due to chronic renal disease. Sonography and 99mTc preoperative sestamibi (MIBI) scan are the primary imaging modalities utilized for the visualization of diseased glands. MIBI scan is approximately 90% sensitive for localizing a parathyroid adenoma. Ultrasonography is the first-line imaging modality and parathyroid adenomas are nearly always homogeneously hypoechoic to the overlying thyroid gland and are commonly detected using gray-scale imaging alone when they are larger than 1 cm in diameter. Nodular goiter or enlarged lymph nodes are causes of false-positive results. Biopsy is very rarely used to diagnose a parathyroid adenoma with cytogenetic testing. Conclusion: Parathyroidectomy is the main stay in management of primary hyperparathyroidism due to parathyroid adenoma. Cervical sonography and sestamibi imaging are used for prediction of adenoma location. Both are limited by increased thyroid volume. Biopsy with cytogenetic testing can help in diagnosis in difficult patients. Presentation: Saturday, June 17, 2023

Diagnostic et prise en charge d’hyperparathyroïdie primaire pendant la grossesse : revue de la littérature autour d’un cas

ObjectiveThere is no specific recommendation for management in pregnant women: the aim of this review, based on a clinical case study, is to clarify its development, complications, risk factor and treatment. MethodsA review of the literature was performed by consulting the Pubmed, Cochrane Library, and Science Direct databases. ResultsPrimary hyperparathyroidism is defined as excessive production of parathyroid hormone resulting in hypercalcemia. The prevalence of primary hyperparathyroidism during pregnancy is not known. Indeed, the symptomatology, related to hypercalcemia, is not very specific and easily confused with the clinical manifestations of pregnancy. The physiological changes specific to the pregnant state frequently lead to a slight hypocalcemia which may complicate the diagnosis of primary hyperparathyroidism. Primary hyperparathyroidism results from a parathyroid adenoma in the majority of cases and is detected by ultrasound during pregnancy. Primary hyperparathyroidism in pregnancy causes significant risks to both mother and fetus. The maternal complication rate is 14–67%, however, the most serious complication is hypercalcemic crisis, which requires increased surveillance in the postpartum period. Obstetrical complications are also induced by primary hyperparathyroidism, such as acute polyhydramnios, or intrauterine growth retardation. The fetal complication rate can reach 45–80% of cases with neonatal hypocalcemia as the main complication. If medical treatment is based on hyperhydration, only surgical treatment is curative. ConclusionSurgery should be proposed to symptomatic patients or those with high blood calcium levels, discussed in interdisciplinary committee and should be organized ideally in the second trimester to avoid maternal and fetal complications.

Brownish limb tumor as a presentation of primary hyperparathyroidism

43-year-old male, with tumor in the anterior region of the right lower limb (figure 1) and biopsy compatible with brown tumor. He presented total serum calcium 12.3 mg/dl and 13 mg/dl (NR: 8.3-10.3), parathormone (PTH) 1057 pg/ml (NR 15-65). With the diagnosis of primary hyperparathyroidism, a 99mTc-MIBI parathyroid scintigraphy with SPECT was requested, which showed hyperfunctioning parathyroid tissue in the projection of the left inferior parathyroid gland. Hand radiographs showed a lytic lesion in punch in the distal phalanx of the first finger of the left hand (figure 2); in the clavicle radiograph: lytic lesion of 10 mm x 8 mm in the right clavicle, no alterations were evidenced in the skull radiograph.

Genetic and clinical screening for hereditary primary hyperparathyroidism in a large Chinese cohort: a single-center study.

Primary hyperparathyroidism (PHPT) includes sporadic PHPT and hereditary PHPT. However, until now, there have been no exact data on the proportion and composition of hereditary PHPT in the Chinese PHPT population. This study aimed to clarify the proportion and composition of hereditary PHPT in patients at a large academic center in Beijing, China, and to analyze genotype-phenotype characteristics. A total of 394 newly diagnosed Han PHPT patients who consented to genetic screening were enrolled. Targeted next-generation sequencing (T-NGS) (including for MEN1, RET, CDKN1B, CaSR, HRPT2/CDC73, GNA11, AP2S1, GCM2), combined with MEN1-multiplex ligation-dependent probe amplification (MLPA) and CDC73-MLPA, was used for genetic screening. Diagnosis of hereditary PHPT was based on clinical manifestations, family history, and genetic screening. Thirty-seven pathogenic (P)/likely pathogenic (LP) variants were detected in 41 patients via T-NGS, and three patients carried long-range deletions of MEN1 or CDC73 detected by MLPA, with a variant detection rate of 11.2% (44/394). In total, 30 patients were clinically diagnosed with MEN1. Combined with genetic and clinical screening, the rate of hereditary PHPT in this study was 18.8% (74/394). For purposes of comparison, the rate of unequivocal nonhereditary PHPT was 66.5% (262/394); 14.7% (58/394) did not exhibit the clinical features of hereditary PHPT but carried variants of uncertain clinical significance and so could not be clearly categorized. Both the age at hospital visit (43.6 ± 14.0 versus 53.7 ± 14.9 years) and age at onset (35.4 ± 13.8 versus 50.6 ± 14.8 years) in the hereditary group (n = 74) were significantly lower than those in the nonhereditary group (n = 262). Higher levels of ionized calcium and serum β-CTX were observed in the hereditary group; proportions of parathyroid hyperplasia and multigland involvement were also higher. In addition to multigland disease and positive family history, it is recommended that patients with an age of onset less than 38 should be screened for hereditary forms. © 2023 American Society for Bone and Mineral Research (ASBMR).

A Significant Association between Parathyroid Adenoma Volume and Bone Mineral Loss at Distal Forearm.

The cortical bone is the most severely affected site in patients with primary hyperparathyroidism (PHPT) and thus, a low bone mineral density (BMD) is predominantly observed in distal forearm. Several studies have investigated potential associations between the weight of the gland and bone mineral loss. In this study, we wanted to investigate the relationship between parathyroid adenoma (PTA) volume and bone mineral loss. All patients with a diagnosis of PHPT who were operated at our hospital, and with a histologically proven single PTA were retrospectively analyzed. Z-scores were used as the main variable in our analysis to eliminate the effects of age, sex and gonadal status on BMD. Total of 153 patients who met the inclusion criteria were eligible for the study. A significant negative correlation between the PTA volume and z-score for distal third of the radius (DR) (p = 0.006, r = -0.297) was shown. The cut-off value of gland volume for predicting cortical bone mineral loss was 9043.2 mm3. There was also a significant negative correlation between the 24-hour urine calcium and z-scores for lumbar vertebrae and total hip. A significant negative correlation was found between preoperative 25-hydroxy vitamin D levels and the PTA weight. As the first study that evaluated any possible association between the volume of a parathyroid adenoma and bone mineral loss in patients with PHPT, we found a significant negative correlation between DR z-scores and resected gland volume. Since the volume of a PTA can also be determined by a preoperative US, our findings may be helpful during the preoperative evaluation of a patient with a preliminary diagnosis of PHPT.

Disparities in Parathyroidectomy: Who Receives Appropriate Treatment for Primary Hyperparathyroidism?

IntroductionParathyroidectomy is underperformed despite clear benefits in primary hyperparathyroidism (PHPT). We evaluated disparities in receipt of parathyroidectomy following PHPT diagnosis to explore barriers to care. MethodsAdults diagnosed with PHPT 2013-2018 at a health system were identified. Recommended indications for parathyroidectomy include age ≤50 y, calcium >11 mg/dL, or the presence of nephrolithiasis, hypercalciuria, nephrocalcinosis, decreased glomerular filtration rate, osteopenia, osteoporosis, or pathological fracture 1 y prior to diagnosis. Kaplan–Meier analysis assessed rates of parathyroidectomy within 12 mo following diagnosis as well as median time to parathyroidectomy, and multivariable Cox proportional hazards analyses assessed factors associated with undergoing parathyroidectomy. ResultsOf 2409 patients, 75% were females, 12% aged ≤50 y, and 92% non-Hispanic White, while 52% had Medicaid/Medicare, 36% were commercial/self-pay or uninsured, and 12% unknown. Parathyroidectomy was performed within 1 y in 50% of patients. Within the 68% that met recommendations, parathyroidectomy was performed within 1 y in 54%; median time from diagnosis to surgery was shorter for males, patients aged ≤50 y, commercial/self-pay/no insurance patients (versus Medicaid/Medicare), and those with fewer comorbidities, P < 0.05. Multivariable analysis demonstrated non-Hispanic White patients and those with commercial/self-pay/uninsured were more likely to undergo parathyroidectomy after adjusting for comorbidity, age, and facility site. Among those strongly indicated, patients not on Medicare/Medicaid and aged ≤50 y were more likely to undergo parathyroidectomy after adjusting for race, comorbidity, and facility site. ConclusionsDisparities in parathyroidectomy for PHPT were observed. Insurance type was associated with undergoing parathyroidectomy; patients on governmental insurance were less likely to undergo surgery and waited longer for surgery despite strong indications. Barriers to referral and access to surgery should be investigated and addressed to optimize all patients’ access to care.

Medical management and rehabilitation in a patient with avascular necrosis of the femoral head in the context of vitamin D deficiency and secondary hyperparathyroidism – case report

Vitamin D is essential in determining bone and muscle health. Vitamin D deficiency (VDD) produces secondary hyperparathyroidism, loss of bone quality and mass, mineral-ization effects and fractures, myopathy, and falls. The avascular necrosis (AVN) of the femoral head pathophysiology is still unclear and can be considered a vascular bone dis-ease. Our paper aimed to evaluate the etiology of AVN in a young male with bilateral fem-oral neck damage who required bilateral arthroplasty. Method: We present the case of a 46-year-old male patient with VDD and bilateral total hip arthroplasty for osteoarthritis secondary to AVN of the femoral head. After complete hormonal, biological, and imaging evaluations, the diagnosis of primary hyperparathyroidism was not supported; the im-provement of vitamin D deficiency after eight months of treatment clarified the diagnosis: hyperparathyroidism secondary to vitamin D deficiency. Results: Supplementation with 4000 IU of vitamin D improved the patient’s response to specific rehabilitation methods. Conclusions: Severe vitamin D deficiency can secondarily affect the structure of the femoral head through secondary hyperparathyroidism, producing AVN, but only osteopenia was obtained on DXA evaluation. VDD can be an important etiological factor in the occur-rence of AVN, and its correction can improve the evolution of the disease, improving the reabilitation of these patients. Keywords: avascular necrosis, secondary hyperparathyroidism, vitamin D deficiency, rehabilitation

Medical management and rehabilitation in a patient with avas-cular necrosis of the femoral head in the context of vitamin D deficiency and secondary hyperparathyroidism – case report

Vitamin D is essential in determining bone and muscle health. Vitamin D deficiency (VDD) produces secondary hyperparathyroidism, loss of bone quality and mass, mineral-ization effects and fractures, myopathy, and falls. The avascular necrosis (AVN) of the femoral head pathophysiology is still unclear and can be considered a vascular bone dis-ease. Our paper aimed to evaluate the etiology of AVN in a young male with bilateral fem-oral neck damage who required bilateral arthroplasty. Method: We present the case of a 46-year-old male patient with VDD and bilateral total hip arthroplasty for osteoarthritis secondary to AVN of the femoral head. After complete hormonal, biological, and imaging evaluations, the diagnosis of primary hyperparathyroidism was not supported; the im-provement of vitamin D deficiency after eight months of treatment clarified the diagnosis: hyperparathyroidism secondary to vitamin D deficiency. Results: Supplementation with 4000 IU of vitamin D improved the patient’s response to specific rehabilitation methods. Conclusions: Severe vitamin D deficiency can secondarily affect the structure of the femo-ral head through secondary hyperparathyroidism, producing AVN, but only osteopenia was obtained on DXA evaluation. VDD can be an important etiological factor in the occur-rence of AVN, and its correction can improve the evolution of the disease, improving the reabilitation of these patients.