Primary Hyperparathyroidism With Undetectable Intact Parathyroid Hormone.

Hypercalcemia can result from either hyperparathyroidism or non-parathyroid conditions. When hypercalcemia is accompanied by undetectable parathyroid hormone (PTH) levels, hyperparathyroidism is rarely considered the diagnosis. Herein, we report the case of a 65-year-old Caucasian woman referred to our hospital for further evaluation of hypercalcemia. Her symptoms included fatigue and brain fog, with undetectable PTH levels. A comprehensive workup, including a series of laboratory and imaging tests, excluded common non-parathyroid causes such as malignancy and familial hypocalciuric hypercalcemia. Ultrasound identified a likely enlarged parathyroid gland, which was further confirmed by a sestamibi scan. After 2 weeks of cinacalcet treatment, the patient's calcium levels decreased, indicating the parathyroid gland as the likely source of hypercalcemia. Parathyroidectomy was subsequently performed, revealing a 1927 mg adenoma. Postoperatively, the patient's calcium levels normalized, PTH levels became detectable within the normal range, and her symptoms resolved, with a marked improvement in energy. This case demonstrates that primary hyperparathyroidism can present with hypercalcemia and undetectable PTH. A genetic mutation in the PTH gene within the adenoma may explain the undetectable PTH levels preoperatively.

This case report discusses a 65-year-old woman who was found to have high calcium levels in her blood, a condition known as hypercalcemia. Typically, hypercalcemia can result from either a condition where the parathyroid glands produce too much parathyroid hormone (PTH) or from other non-parathyroid-related issues like cancer. However, when hypercalcemia occurs with undetectable levels of PTH, it is unusual for hyperparathyroidism to be the cause. In this patient's case, she experienced symptoms like fatigue and brain fog, but her initial tests showed undetectable PTH levels. Further tests ruled out other common causes of high calcium, such as cancer or a genetic condition called familial hypocalciuric hypercalcemia. An ultrasound and a special scan called a sestamibi scan revealed an enlarged parathyroid gland, suggesting the presence of a parathyroid adenoma, a non-cancerous tumor. To confirm this, the doctors gave the patient a medication called cinacalcet, which is known to lower calcium levels if the parathyroid glands are involved. After two weeks of treatment, her calcium levels dropped, indicating that the parathyroid gland was indeed the source of the problem. The patient underwent surgery to remove the adenoma, which weighed nearly two grams. Following the surgery, her calcium levels returned to normal, and her PTH levels became detectable again within the normal range. Her symptoms, including fatigue, improved significantly, and she reported feeling more energetic. This case is unusual because it demonstrates that primary hyperparathyroidism can still be the cause of hypercalcemia even when PTH levels are initially undetectable. The doctors suspect that a genetic mutation in the adenoma might explain why PTH levels were undetectable before surgery. This case emphasizes the importance of thorough clinical evaluation, even when initial test results are not typical.

Beyond secondary hyperparathyroidism: Diagnosing primary parathyroid abnormalities in a patient with chronic kidney disease.

Chronic kidney disease (CKD) is a complex medical condition that extends beyond the progressive decline in renal function. It is associated with mineral and bone disorders, notably secondary hyperparathyroidism due to dysregulated calcium and phosphate metabolism. However, distinguishing between secondary and primary hyperparathyroidism can be challenging. We report the case of a 74-year-old male with CKD, who presented with elevated serum levels of parathyroid hormone (PTH), CKD, and unexplained hypercalcemia, despite management for secondary hyperparathyroidism. Advanced imaging techniques revealed a primary parathyroid adenoma, subsequently confirmed by histopathology. The successful surgical resection of the adenoma resulted in the calcium and PTH levels falling into a normal range, highlighting the need for a careful differential diagnosis in CKD patients.

Atlantoaxial Instability due to Os Odontoideum in a Child with Christianson Syndrome.

Introduction: Christianson syndrome is a rare neurodevelopmental disorder associated with mutations in the SLC9A6 gene located on the chromosome X. It is characterized by intellectual disability, developmental delay, speech and language impairments, dysmorphic features, seizures, ataxia, and neurobehavioral problems. Case Presentation: A 5-year-old boy was presented with respiratory failure and then progressive muscle weakness in all four extremities. He manifested acquired microcephaly, intellectual disability, global developmental delay, distinct dysmorphic facial features, seizures, spastic tetraparesis, truncal hypotonia, speech impairment, failure to thrive, malnutrition, recurrent lung infections, self-mutilation, primary hyperparathyroidism, medullary nephrocalcinosis, and atlantoaxial instability due to os odontoideum. Brain magnetic resonance imaging revealed atlantoaxial instability due to os odontoideum, a narrow foramen magnum, myelopathy due to spinal cord compression, and cerebral and cerebellar atrophy. Discussion: This report highlights a significant contribution by introducing a child with Christianson syndrome describing atlantoaxial instability due to os odontoideum, a previously undocumented phenomenon. This report suggests a potential link between Christianson syndrome and atlantoaxial instability. In children with Christianson syndrome experiencing increased muscle weakness in all extremities during follow-up, consideration of underlying myelopathy due to os odontoideum is advised.

Intrathyroidal Parathyroid Adenoma - An Incidental Diagnosis.

Aim This case report highlights the importance of preoperative assessment of calcium in all cases of thyroid surgery. Intrathyroidal parathyroid adenoma (IPA) is a rare presentation of primary hyperparathyroidism. It is caused by abnormal embryonic migration of parathyroid glands and is difficult to detect preoperatively. When diagnosed pre operatively it has good surgical outcome. Herein authors present a case of thirty-two-year lady who underwent hemithyroidectomy for colloid goitre and was detected to have intrathyroidal parathyroid adenoma (IPA) on histopathological examination.

mRNA expression of vitamin D receptor, calcium-sensing receptor, cyclin D1, and PTH in symptomatic and asymptomatic primary hyperparathyroidism.

BACKGROUND AND OBJECTIVE: The exact underlying mechanism for the differential clinical profiles of symptomatic and asymptomatic primary hyperparathyroidism (PHPT) patients has not been fully elucidated, and efforts to define the molecular mechanisms underlying the phenotypic heterogeneity of PHPT have been limited. The aim of this study was to explore the underlying molecular mechanisms involved in the pathogenesis of symptomatic and asymptomatic sporadic PHPT in Asian Indians. METHODS: A prospective cohort study was conducted at a tertiary care hospital in North India. PHPT patients who underwent parathyroidectomy were included. The main outcome was the comparison of vitamin D receptor (VDR), calcium-sensing receptor (CaSR), cyclin D 1 (CD1), and parathyroid hormone (PTH) mRNA levels between symptomatic and asymptomatic PHPT patients and controls determined via quantitative real-time polymerase chain reaction (qRT-PCR). RESULTS: Forty-two PHPT patients were studied. The mean (SD) age was 49.7 (12.8) years. Twenty patients were asymptomatic. The median PTH levels were significantly greater in the symptomatic group than in the asymptomatic group (878 vs 653 pg/mL). CaSR and VDR mRNAs were significantly lower in both symptomatic and asymptomatic patients than in controls. CD1 and PTH mRNAs were significantly increased in symptomatic patients, but not in asymptomatic PHPT patients compared with controls. Symptomatic PHPT patients had significantly greater CD1 mRNA expression and reduced CaSR expression than asymptomatic patients. CONCLUSION: Symptomatic PHPT patients had significantly greater CD1 mRNA expression and lower CaSR expression than asymptomatic patients, underscoring the importance of the molecular mechanisms underlying the phenotypic heterogeneity of PHPT.

Normocalcemic primary hyperparathyroidism is not associated with cardiometabolic alterations.

PURPOSE: Cardiometabolic disorders are non-classical complications of hypercalcemic primary hyperparathyroidism (HC-PHPT), but whether this risk connotes normocalcemic PHPT (NC-PHPT) remains to be elucidated. We investigated cardiometabolic alterations in both forms of PHPT, looking for their association with indices of disease activity. METHODS: Patients with HC-PHPT (n = 17), NC-PHPT (n = 17), and controls (n = 34) matched for age, sex, and BMI were assessed for glucose, lipid, blood pressure alterations, and history of cardiovascular events to perform a case-control study at an ambulatory referral center for Bone Metabolism Diseases. RESULTS: NC-PHPT, in comparison to controls, showed similar glucose (mean ± SD, 88 ± 11 vs 95 ± 22 mg/dl), total cholesterol (199 ± 25 vs 207 ± 36 mg/dl), and systolic blood pressure levels (SBP, 132 ± 23 vs 132 ± 19 mmHg), together with a comparable frequency of glucose alterations (6% vs 9%), lipid disorders (41% vs 50%) and hypertension (53% vs 59%, p = NS for all comparisons). Conversely, all these abnormalities were more prevalent in HC-PHPT vs controls (p < 0.05). When compared to NC-PHPT, HC-PHPT showed higher glucose (113 ± 31 mg/dl), total cholesterol (238 ± 43 mg/dl), and SBP levels (147 ± 15 mmHg) as well as an increased frequency of glucose (41%) and lipid alterations (77%) and a higher number of cardiovascular events (18% vs 0%, p < 0.05 for all comparisons). Among indices of PHPT activity, calcium levels displayed a significant correlation with glucose (R = 0.46) and SBP values (R = 0.60, p < 0.05). CONCLUSION: NC-PHPT is not associated with cardiovascular alterations. The predominant pathogenetic role of hypercalcemia in the development of cardiometabolic disorders could account for the absence of such alterations in NC-PHPT.

Variation in PTH levels and kinetics after parathyroidectomy.

Intraoperative parathyroid hormone (IOPTH) is a surgical adjunct used to assess function of remaining parathyroid glands in "real-time" during parathyroidectomy. Parathyroid degradation kinetics are affected by timing of blood draws, patient characteristics, and disease phenotype. A nuanced understanding of these multiple factors can help parathyroid surgeons interpret IOPTH results. This article summarizes recent literature on PTH kinetics with a focus on how to apply this knowledge clinically during parathyroid surgery.

Prevalence, risk factors and effect of curative parathyroidectomy on nephrocalcinosis in Asian-Indian patients with symptomatic primary hyperparathyroidism.

Primary hyperparathyroidism (PHPT) is characterized by inappropriate secretion of parathyroid hormone, causing hypercalcemia and hypercalciuria, leading to renal stone diseases and nephrocalcinosis. The frequency, risk factors, and curative effect on nephrocalcinosis in post-parathyroidectomy have not been identified yet. Therefore, the present study evaluated the clinico-biochemical, radiological parameters and curative effect on nephrocalcinosis. A total of 583 PHPT patients were analysed in four groups viz. Group 1 (PHPT with nephrocalcinosis-98; 16.8%); Group 2 (PHPT with nephrolithiasis-227; 38.9%); Group 3 (PHPT with both nephrolithiasis and nephrocalcinosis-59; 10.1%); and Group 4 (PHPT without renal diseases-199, 34.1%). In the sub-group analysis, younger age (p ≤ 0.05), male gender (p ≤ 0.05), and hematuria (p ≤ 0.005) were significant in Group 1 vs. Group 4. Dysuria and low eGFR were significant in Group 1 vs. Group 2 (p ≤ 0.0005; p ≤ 0.05) and Group 1 vs. Group 4 (p ≤ 0.0005; p ≤ 0.0005). Polyuria (p ≤ 0.05; p ≤ 0.05, p ≤ 0.005), and gravluria (p ≤ 0.05; p ≤ 0.0005, p ≤ 0.005) were frequent in Group 1 vs. other groups. A significant difference was observed in S.Ca and, 24-hrs U.Ca in Group 1 vs. Group 2 {(12.2 (10.8-13.4) vs. 11.2 (10.7-12.4), p ≤ 0.05; 301 (189.5-465) vs. 180 (92.5-323.1), p ≤ 0.05} and Group 1 vs. Group 4 {(12.2 (10.8-13.4) vs. 11.4 (10.7-12.5), p ≤ 0.05 ; 301 (189.5-465) vs. 213 (110-360), p ≤ 0.0005}. Multivariate logistic regression showed gravluria [aOR = 9.2, p = 0.0001], S.Ca (aOR = 1.30, p = 0.003) and, 24-hrs U.Ca (aOR = 1.02, p = 0.042) to be independent predictors of nephrocalcinosis. Pre and post-operative assessment revealed decreased S. Ca levels [(11.9 ± 1.9) vs. (10.5 ± 1.0) mg/dL; p = 0.04] and complete radiological resolution (10.4%) in PHPT with nephrocalcinosis. Therefore, serum calcium, 24-hrs Urinary calcium, and gravluria were independent predictors of nephrocalcinosis with 10.4% showing complete radiological resolution post-operatively.

Association between radius axial low-frequency ultrasound velocity and bone fragility in primary hyperparathyroidism.

CONTEXT: Radius quantitative ultrasound measurement, that utilized a portable low-frequency (VLF) axial transmission ultrasound for assessing the properties of radius cortical bone in a non PHPT population revealed a possible role as a screening tool prior to DXA to evaluate fragility fracture. OBJECTIVE: To evaluate this portable ultrasound device as a screening tool of skeletal fragility in PHPT patients. METHODS: We enrolled 117 postmenopausal women with PHPT. Every subject had a DXA of femur, lumbar spine, non-dominant distal 1/3 radius, TBS measurement, VLF with a portable device and spine x- ray. RESULTS: The mean age of the patients was 68 ± 10 years. The measurement of agreement between radius DXA and VLF was: K = 0.43, p < 0.001. A lower radius US T-score, also adjusted for years since menopause and BMI, was associated with osteoporosis identified with DXA at lumbar and/or femoral neck sites: OR = 1.852 (CI 1.08, 3.18). All fractures were associated with femoral neck T-score: OR = 1.89 (95% CI 1.24, 2.89), as well as with total hip T-score: OR = 1.65 (95% CI 1.09, 2.50), and years since menopause: OR = 1.25 (95% CI 1.02, 1.54).Morphometric vertebral fractures were associated with years since menopause: OR = 1.28 (95% CI 1.02,1.61), femoral neck T-score OR = 1.96 (95% CI 1.227, 3.135), total hip T-score OR = 1.64 (95% CI 1.04, 2.60), TBS OR = 0.779 (95% CI 0.60-0.99), both ultra-distal radius T-score: OR = 1.50 (95% CI 1.05, 2.156), and radius US T-score: OR = 1.67 (95% CI 1.09, 2.56). CONCLUSIONS: VLF could be used for screening purposes prior to DXA to evaluate PHPT fracture risk, only in conditions in which DXA measurement cannot be performed.

Recurrent acute pancreatitis as an initial presentation of primary hyperparathyroidism: A case report.

BACKGROUND: With 4.9 to 35 instances per 100000 cases, hyperparathyroidism is one of the rarest causes of acute pancreatitis. The major cause of primary hyperparathyroidism is a parathyroid adenoma, which can manifest clinically in various ways. CASE SUMMARY: We discuss the unusual case of a 13-year-old boy with recurrent pancreatitis as the initial presentation of primary hyperparathyroidism. The cause of his recurrent pancreatitis remained unknown, and the patient had multiple admissions with acute pancreatitis over 3 years. His diagnosis was delayed due to the initial normal levels of parathyroid hormone, which were later reported elevated in a subsequent episode where ultrasound neck and thyroid scintigraphy revealed a parathyroid adenoma as the underlying cause. After the diagnosis was made, he underwent surgical resection of the adenoma. CONCLUSION: This case study stresses the importance of considering uncommon causes for recurrent pancreatitis.

Primary hyperparathyroidism-induced acute pancreatitis in pregnancy: A systematic review with a diagnostic-treatment algorithm.

BACKGROUND: Primary hyperparathyroidism (PHPT)-induced acute pancreatitis (AP) during pregnancy has rarely been described. Due to this rarity, there are no diagnostic or treatment algorithms for pregnant patients. AIM: To determine appropriate diagnostic methods, therapeutic options, and factors related to maternal and fetal outcomes for PHPT-induced AP in pregnancy. METHODS: A literature search of articles in English, Japanese, German, Spanish, and Italian was performed using PubMed (1946-2023), PubMed Central (1900-2023), and Google Scholar. The Preferred Reporting Items for Systematic reviews and Meta-Analyses (PRISMA) protocol was followed. The search terms included "pancreatite acuta," "iperparatiroidismo primario," "gravidanza," "travaglio," "puerperio," "postpartum," "akute pankreatitis," "primärer hyperparathyreoidismus," "Schwangerschaft," "Wehen," "Wochenbett," "pancreatitis aguda," "hiperparatiroidismo primario," "embarazo," "parto," "puerperio," "posparto," "acute pancreatitis," "primary hyperparathyroidism," "pregnancy," "labor," "puerperium," and "postpartum." Additional studies were identified by reviewing the reference lists of retrieved studies. Demographic, imaging, surgical, obstetric, and outcome data were obtained. RESULTS: Fifty-four cases were collected from the 51 studies. The median maternal age was 29 years. PHPT-induced AP starts at the 20th gestational week; higher gestational weeks were seen in mothers who died (mean gestational week 28). Median values of amylase (1399, Q1-Q3 = 519-2072), lipase (2072, Q1-Q3 = 893-2804), serum calcium (3.5, Q1-Q3 = 3.1-3.9), and parathormone (PTH) (384, Q1-Q3 = 123-910) were reported. In 46 cases, adenoma was the cause of PHPT, followed by 2 cases of carcinoma and 1 case of hyperplasia. In the remaining 5 cases, the diagnosis was not reported. Neck ultrasound was positive in 34 cases, whereas sestamibi was performed in 3 cases, and neck computed tomography or magnetic resonance imaging was performed in 9 cases (the enlarged parathyroid gland was not localized in 3 cases). Surgery was the preferred treatment during pregnancy in 33 cases (median week of gestation 25, Q1-Q3 = 20-30) and postpartum in 12 cases. The timing was not reported in the remaining 9 cases, or surgery was not performed. AP was managed surgically in 11 cases and conservatively in 43 (79.6%) cases. Maternal and fetal mortality was 9.3% (5 cases). Surgery was more common in deceased mothers (60.0% vs 16.3%; P = 0.052), and PTH values tended to be higher in this group (910 pg/mL vs 302 pg/mL; P = 0.059). Maternal mortality was higher with higher serum lipase levels and earlier delivery week. Higher calcium (4.1 mmol/L vs 3.3 mmol/L; P = 0.009) and PTH (1914 pg/mL vs 302 pg/mL; P = 0.003) values increased fetal/child mortality, as well as abortions (40.0% vs 0.0%; P = 0.007) and complex deliveries (60.0% vs 8.2%; P = 0.01). CONCLUSION: If serum calcium is not tested during admission, definitive diagnosis of PHPT-induced AP in pregnancy is delayed, while early diagnosis and immediate intervention lead to excellent maternal and fetal outcomes.

New insight into primary hyperparathyroidism using untargeted metabolomics.

Primary Hyperparathyroidism (PHPT) is characterized by excessive parathormone (PTH) secretion and disrupted calcium homeostasis. Untargeted metabolomics offers a valuable approach to understanding the complex metabolic alterations associated with different diseases, including PHPT. Plasma untargeted metabolomics was applied to investigate the metabolic profiles of PHPT patients compared to a control group. Two complementary liquid-phase separation techniques were employed to comprehensively explore the metabolic landscape in this retrospective, single-center study. The study comprised 28 female patients diagnosed following the current guidelines of PHPT diagnosis and a group of 30 healthy females as a control group. To evaluate their association with PHPT, we identified changes in plasma metabolic profiles in patients with PHPT compared to the control group. The primary outcome measure included detecting plasma metabolites and discriminating PHPT patients from controls. The study unveiled specific metabolic imbalances that may link L-amino acids with peptic ulcer disease, gamma-glutamyls with oxidative stress, and asymmetric dimethylarginine (ADMA) with cardiovascular complications. Several metabolites, such as gamma-glutamyls, caffeine, sex hormones, carnitine, sphingosine-1-phosphate (S-1-P), and steroids, were connected with reduced bone mineral density (BMD). Metabolic profiling identified distinct metabolic patterns between patients with PHPT and healthy controls. These findings provided valuable insights into the pathophysiology of PHPT.

A Case of Parathyroid Adenoma with Bilateral Subtrochanteric Pathological Femur Fracture - A Rare Case Report.

Introduction: Primary hyperparathyroidism is a commonly occurring endocrine disorder that is characterized by elevated calcium levels, decreased phosphate levels, and high levels of parathyroid hormone (PTH). The condition can lead to significant bone resorption and pathological fractures. Case Report: We report a case of a 44-year-old female who presented with bilateral thigh pain after a trivial fall at home. Radiological investigations revealed a subtrochanteric fracture of the bilateral femur that was deemed pathological. Biochemical testing indicated severe hypercalcemia and hypophosphatemia with elevated levels of serum PTH and an increased alkaline phosphatase level. Ultrasound and computed tomography scans confirmed a parathyroid adenoma, which was treated through excision and histopathological examination. The patient underwent orthopedic intervention for bilateral subtrochanteric femur fracture, and follow-up investigations showed normal biochemical markers and fracture union within 6 months. Conclusion: Primary hyperparathyroidism should be kept in mind when dealing with bone lesions connected to hypercalcemia, even in asymptomatic individuals and individuals presenting with a trivial mode of trauma. The diagnosis of parathyroid adenoma requires a combination of radiological and biochemical investigations, and a multidisciplinary approach is recommended for the best possible outcome.

Parathyroid Cyst and Micropapillary Thyroid Carcinoma: A Case Study of Unexpected Concurrent Endocrine Pathologies.

Parathyroid cysts (PCs) are rare tumors that predominantly affect middle-aged women and are characterized by symptoms of hyperparathyroidism, including fatigue, bone pain, and gastrointestinal issues. Management typically involves surgical resection due to their potential to cause profound hyperparathyroidism and hypercalcemia. PCs occasionally coexist with thyroid malignancies, including micropapillary thyroid carcinoma (MPTC), although the pathophysiological link between PCs and thyroid cancers remains unclear. We present a case of a 62-year-old woman with symptomatic hypercalcemia and a large cystic mass adjacent to the left inferior thyroid pole, initially suspected to be a PC. Preoperative imaging, including an ultrasound (US) and sestamibi scan, guided surgical intervention, resulting in en bloc resection of the PC along with a left hemithyroidectomy. Pathological examination confirmed the presence of both a PC and MPTC, raising the question as to whether there is a possible correlation between primary hyperparathyroidism (PHPT) and thyroid malignancy. This report aims to highlight the current PC management protocol, underscore the importance of thorough diagnostic evaluation and surgical strategies in addressing concurrent parathyroid and thyroid pathologies, and explore potential pathophysiological connections between these conditions.

Hypercalcemia in Dual Pathology: Interplay Between Renal Cell Carcinoma and Parathyroid Adenoma.

The concomitant occurrence of renal cell carcinoma (RCC) and primary hyperparathyroidism is rare as these conditions are often identified by the presence of hypercalcemia, which might be missed in asymptomatic individuals. We present the case of a 58-year-old asymptomatic male detected to have a left abdominal mass during his routine medical follow-up. He was subsequently diagnosed with RCC. Further history revealed that his calcium levels had been persistently elevated for the past eight years but had never been investigated. Based on elevated parathyroid hormone levels and radiological findings, a diagnosis of primary hyperparathyroidism has also been made. A right inferior parathyroidectomy was performed, and the histopathological examination results showed a right parathyroid adenoma. Intraoperative intact PTH (iPTH) measurements confirmed the complete removal of the abnormal parathyroid gland. The postoperative calcium levels have returned to normal. To the best of our knowledge, this was the first reported case of concurrent primary hyperparathyroidism and RCC in our population. This case illustrates the importance of considering a broad differential when evaluating patients with hypercalcemia.

Unravelling a hidden pathology of a vertebral fracture in a teenage girl.

BACKGROUND: Although the skeleton remains a common target of primary hyperparathyroidism, the classic bone disease "osteitis fibrosa cystica" is currently rare due to early diagnosis. This case represents severe classic bone manifestations of primary hyperparathyroidism due to delayed diagnosis and delayed medical attention. CASE PRESENTATION: A 19-year-old young female was symptomatically managed for chronic back pain and nonspecific bone pain in the small joints of both hands over 2 months by a general practitioner. The patient had delayed seeking for treatment for 3 months. Later, she was evaluated for tuberculosis, hematological malignancies and rheumatic disorders following a fractured T12 vertebra and underwent pedicle screw fixation. However, clinical examination and investigations, including biochemistry, imaging and histology, ruled out the above conditions. Unfortunately, serum calcium level was not performed at the initial presentation. Later, primary hyperparathyroidism was diagnosed on the basis of moderate hypercalcaemia and elevated intact PTH levels (2064 pg/ml). She had sufficient vitamin D levels and normal kidney function. Her DXA scan revealed severe secondary osteoporosis with the lowest Z score of -8 at the total lumbar spine. Ultrasonography of the thyroid revealed a hypo echoic mass in the left lower neck, and localization studies with technetium-99 m sestamibi and 4D-CT revealed a left inferior parathyroid adenoma (1.6 × 1.5 × 1.6 cm). CT scan also revealed brown tumors in the mandible and vertebrae and diffuse bony changes in the skull, sternum, humerus and vertebrae. Her radiographs revealed subperiosteal bone resorption on the radial aspects of the middle and distal phalanges and brown tumors in both the ulna and fibula. We excluded MEN and other hereditary syndromes in our patient with a personal and family history and with a normal pituitary hormone profile because of poor resources for genetic testing. She underwent parathyroid adenoma excision, and the postoperative period was complicated with hungry bone syndrome, requiring high doses of calcium and active vitamin D supplements. These supplements were gradually weaned off over 6 months, and she recovered with normal biochemical investigations. Histology revealed parathyroid adenoma without malignant features. CONCLUSION: In developing countries where routine calcium screening is not available, clinicians should be aware of various manifestations of primary hyperparathyroidism to allow diagnosis as soon as possible without delay to prevent further progression, as it is a treatable condition.

Persistent primary hyperparathyroidism caused by an ectopic adenoma in the piriform sinus: case report and review of the literature.

Introduction: Primary hyperparathyroidism (PHPT) is a common endocrine disorder in which surgery is the only curative therapy. Ectopic parathyroid adenoma in the pyriform sinus resulting from a pathological migration of parathyroid glands along the embryological development is a rare cause of PHPT. We describe a case of a persistent primary hyperparathyroidism after previous unsuccessful surgery due to an ectopic parathyroid adenoma within the pyriform sinus and we review the previous reports on this issue. Case presentation: A 62-year-old woman was referred for persistent hypercalcemia following unsuccessful cervical exploratory surgery. Cervical ultrasound did not detect any parathyroid abnormalities. At variance, 99mTc-sestamibi SPECT/CT and CT scan of the neck identified a parathyroid adenoma in the left pyriform sinus, which was confirmed by endoscopy. The patient was successfully treated by transoral robotic resection and the pathology confirmed a parathyroid adenoma. Conclusions: The ectopic parathyroid adenoma in the pyriform sinus is so uncommon that only fourteen cases have been reported. However, the pyriform sinus should be considered a possible location of ectopic parathyroid glands, especially in the setting of persistent or recurrent PHPT after parathyroid surgery.

Body Composition in Primary Hyperparathyroidism: A Potential Contributor to Weakness and Fatigue.

BACKGROUND: Primary hyperparathyroidism (PHPT) patients commonly report weakness and fatigue, though the underlying mechanisms are uncertain. Our purpose is to determine whether CT-derived muscle and adipose tissue metrics are associated with weakness and fatigue in PHPT patients. METHODS: For this retrospective study, cross-sectional muscle and adipose tissue metrics were derived from CTs in PHPT patients undergoing preoperative imaging within 1 year of parathyroid surgery. Skeletal muscle index (SMI) and visceral adipose tissue (VAT)/subcutaneous adipose tissue (SAT) ratio were calculated based on a single CT image at the level of the L3 vertebra. Established sex-specific SMI thresholds were used to define sarcopenia. Demographic and clinical data were collected from the electronic health record. When available, postoperative CT images were analyzed to assess for changes in body composition pre- and post-parathyroidectomy. RESULTS: The cohort comprised 53 PHPT patients (38 females, 15 males, mean age 61.4 years), of whom 24 (45%) reported weakness, 43 (81%) reported fatigue, and 31 (58%) met CT-based criteria for sarcopenia. Lower SMI was significantly associated with preoperative weakness in females but not males. For both weakness and fatigue, VAT/SAT ratios were higher in symptomatic females and lower in symptomatic males than their asymptomatic counterparts, though these differences were not statistically significant. In patients with postoperative CTs (n = 23), no significant changes in CT metrics were observed after parathyroidectomy. DISCUSSION: In females but not males with PHPT, subjective preoperative weakness was significantly associated with lower SMI. Effects of parathyroid hormone on skeletal muscle and visceral adiposity may differ by sex.

[Primary hyperparathyroidism: From diagnosis to treatment]. / L'hyperparathyroïdie primaire : du diagnostic à la prise en charge thérapeutique.

Primary hyperparathyroidism (PHPT) is the leading cause of hypercalcemia. It is secondary to hypersecretion of parathyroid hormone (PTH) by the parathyroid glands. Today, PHTP is asymptomatic in 80-90% of cases. Its repercussions are mainly renal (nephrolithiasis, nephrocalcinosis, decline in renal function) and skeletal (osteoporosis, fractures), and should be systematically investigated. Diagnosis is only biological, and in its classic form relies on the association of hypercalcemia, inappropriate PTH (normal or elevated) and hypercalciuria. Diagnosis of normocalcemic forms, where only PTH is elevated, requires elimination of secondary hyperparathyroidism and confirmation of elevated PTH on two consecutive samples, over a 3 to 6 months period. Imaging evaluation, which combines neck ultrasound with scintigraphy or 18F-choline PET/CT, is of interest only if surgery is indicated. Surgical management of the hyperfunctioning parathyroid gland(s) is the only curative treatment for HPTP. Medical management concerns patients for whom surgery is not indicated, who present a surgical contraindication or who refuse surgery. The diagnosis of HPTP warrants contact with an endocrinologist to ensure its management.

Postoperative pancytopenia in a patient with giant parathyroid adenoma and brown tumor: a case report.

BACKGROUND: Parathyroid adenoma is the primary cause of primary hyperparathyroidism, commonly presenting with elevated parathyroid hormone (PTH) and blood calcium levels. Chronic primary hyperparathyroidism often results in bone destruction, resulting in the formation of brown tumors. The preferred clinical treatment for parathyroid adenoma is parathyroidectomy. Postoperative pancytopenia, although rare, is a critical complication that warrants further investigation into its mechanisms and management strategies. CASE PRESENTATION: We present a case of a 59-year-old female patient who was admitted due to nausea and vomiting. Positron emission tomography-computed tomography (PET-CT) revealed a mass posterior to the left thyroid lobe and multiple areas of fibrocystic osteitis throughout the body. Hematological tests showed elevated serum calcium and parathyroid hormone (PTH) levels. The patient subsequently underwent parathyroidectomy, and pathological examination confirmed the presence of a parathyroid adenoma. Postoperatively, the patient developed pancytopenia and received symptomatic treatment such as correction of anemia and elevation of white blood. At the two-month follow-up, all indicators had returned to normal. CONCLUSIONS: Pancytopenia is commonly seen in bone marrow diseases, infections and immune-related disorders, nutritional deficiencies, and metabolic diseases. This case confirms that pancytopenia can also occur postoperatively in patients with parathyroid adenoma. Therefore, Clinicians should be aware of the potential for postoperative pancytopenia following parathyroidectomy and the need for prompt management.