The parathyroid glands play a crucial role in calcium regulation through parathyroid hormone (PTH) production. Indicators for those with hyperparathyroidism would be elevated serum calcium and PTH levels with further evaluation followed by imaging with neck ultrasonography and parathyroid scintigraphy. Limitations in the initial imaging modalities include operator-dependent sensitivity in neck ultrasonography, and poor spatial resolution, and poor sensitivity for smaller-sized adenomas in parathyroid scintigraphy.

This case report describes a 24-year-old female with elevated parathyroid hormone, and borderline elevated calcium levels with an initial diagnosis of primary hyperparathyroidism secondary to a suspected parathyroid adenoma. The dual tracer dual-phase scintigraphy accompanied by SPECT/CT and subtraction method was negative for a parathyroid adenoma, however, ultrasonography of the neck showed a suspicious nodular structure. Due to the high clinical suspicion, a subsequent ¹⁸F-Choline PET/CT was done and identified an ¹⁸F-Choline-avid lesion, highly suggestive of a parathyroid adenoma. This prompted parathyroidectomy in which histopathology as well as intraoperative reduction in parathyroid hormone levels, confirmed the presence of a parathyroid adenoma.

This is the first recorded ¹⁸F-Choline PET/CT usage for a parathyroid adenoma in the country and highlights the potential of its usage as a sensitive and specific imaging modality in cases where conventional imaging is inconclusive.

OBJECTIVES: To investigate the expression of parathyroid hormone-like hormone (PTHLH) in hepatocellular carcinoma (HCC) and analyze its correlation with clinical prognosis, its regulatory effects on HCC cell behaviors, and the signaling pathways mediating its effects. METHODS: We analyzed the differential expression of PTHLH in HCC and adjacent tissues and its association with patient prognosis based on data from TCGA and GEO databases and from 70 HCC patients treated in our hospital. The effects of PTHLH knockdown and overexpression on proliferation, migration, and invasion of cultured HCC cells were investigated using CCK-8 assay, colony formation assay, Transwell migration and invasion assays, and the signaling pathways activated by PTHLH were detected using Western blotting. RESULTS: TCGA and GEO database analysis showed significant overexpression of PTHLH mRNA in HCC tissues, which was associated with poor prognosis of the patients (P<0.05). High PTHLH mRNA expression was a probable independent prognostic risk factor for HCC (P<0.05). In the clinical samples, PTHLH mRNA and protein expressions were significantly higher in HCC tissues than in the adjacent tissues (P<0.001 or 0.01). Univariate and multivariate Cox regression analyses suggested that high PTHLH mRNA expression was an independent risk factor to affect postoperative disease-free survival of HCC patients (P<0.05). The prognostic prediction model based on PTHLH mRNA expression showed an improved accuracy for predicting the risk of postoperative recurrence in HCC patients. In cultured HCC cells, PTHLH overexpression significantly promoted cell proliferation, colony formation, migration and invasion, and caused activation of the ERK/JNK signaling pathway in Huh7 and Hep3B cells. CONCLUSIONS High PTHLH expression promotes HCC progression and is associated with poor patient prognosis. Its pro-tumor effects may be mediated by activation of the ERK/JNK signaling pathway.
Humans ; Carcinoma, Hepatocellular/metabolism* ; Liver Neoplasms/metabolism* ; Prognosis ; Cell Proliferation ; Parathyroid Hormone-Related Protein/genetics* ; Cell Line, Tumor ; Cell Movement ; Disease Progression ; Signal Transduction ; Male ; RNA, Messenger/genetics* ; Female

Objective To evaluate the application value of four-dimensional CT(4D-CT)in the preoperative localization of primary hyperparathyroidism(PHPT). Methods A retrospective analysis was conducted on the clinical data and parathyroid 4D-CT images of 63 patients who underwent PHPT surgery at Peking Union Medical College Hospital between April 2020 and April 2023.Based on the clinical experience of the hospital's surgeons,parathyroid lesions were categorized into six anatomical regions:around the upper pole of the thyroid,posterior to the mid-thyroid,posterior to the lower pole of the thyroid and the tracheoesophageal groove,below the lower pole of the thyroid and the suprasternal fossa,retrosternal anterior mediastinum,and other rare locations.All images were independently analyzed by two experienced radiologists,with discrepancies resolved through discussion led by a senior radiologist.Using pathological results as the gold standard,the accuracy,sensitivity,specificity,positive predictive value(PPV),negative predictive value(NPV),Youden index,positive likelihood ratio(PLR),and negative likelihood ratio(NLR)of preoperative 4D-CT in diagnosing PHPT were calculated. Results There were no statistically significant differences between preoperative 4D-CT and surgical localization in the following regions:around the upper pole of the thyroid(χ²=0.500,P=0.480),posterior to the mid-thyroid(χ²<0.001,P>0.999),posterior to the lower pole of the thyroid and the tracheoesophageal groove(χ²=0.571,P=0.450),below the lower pole of the thyroid and the suprasternal fossa(χ²<0.001,P>0.999),retrosternal anterior mediastinum(χ²<0.001,P>0.999),and other rare locations(χ²<0.001,P>0.999).The preoperative 4D-CT diagnosis of PHPT lesions demonstrated a sensitivity of 82.09%,specificity of 97.43%,PPV of 87.30%,NPV of 96.19%,accuracy of 94.71%,Youden index of 79.52%,PLR of 31.94,and NLR of 0.18. Conclusion Parathyroid 4D-CT demonstrates good diagnostic efficacy in the preoperative localization of PHPT.
Humans ; Hyperparathyroidism, Primary/surgery* ; Retrospective Studies ; Four-Dimensional Computed Tomography ; Male ; Female ; Middle Aged ; Adult ; Aged ; Parathyroid Glands/diagnostic imaging* ; Preoperative Period

Humans ; Parathyroid Neoplasms/genetics* ; Molecular Biology ; Parathyroid Glands

Primary hyperparathyroidism (PHPT) is rare in pregnancy. This condition is challenging to diagnose and manage due to the limited diagnostic and therapeutic options that are safe during pregnancy. If not diagnosed and managed in a timely manner, serious maternal and foetal complications may occur. We report two cases, one with surgical intervention and one without, to show the importance of timely surgical intervention and discuss the challenges in the management of PHPT in pregnancy.
Hyperparathyroidism, Primary ; Pregnancy

Primary hyperparathyroidism (PHPT) in adolescents is rare and has severe manifestations as compared to adults. Skeletal involvement in primary hyperparathyroidism in the form of deformities like genu valgus, genu varus and cubitus varus is rare and limited to case reports and case series. There is only one case of genu varus with genu valgus on the contralateral extremity (windswept deformity) that has been reported to date in the literature. We report the case of a 19-year-old male who presented with isolated progressive bending of his legs at the knee (windswept deformity) for three years. He was found to have hypercalcemia, hypophosphatemia, high alkaline phosphatase, high intact parathyroid hormone (iPTH), normal 25-hydroxy vitamin D level and a normal kidney function test. A diagnosis of primary hyperparathyroidism was made. On imaging studies, a left inferior parathyroid adenoma was localized and was successfully removed surgically. Serum calcium and iPTH normalized post-operatively. The patient is being planned for corrective osteotomy after stabilization of alkaline phosphatase levels.
Hyperparathyroidism, Primary ; Genu Varus ; Genu Varum

Primary hyperparathyroidism (PHPT) typically results from parathyroid adenoma, multiglandular hyperplasia, or parathyroid carcinoma. Patients usually present with skeletal manifestations such as low-trauma fractures. Osteitis fibrosa cystica (OFC) is a classic yet rare skeletal manifestation of advanced PHPT currently reported in less than 2% of patients. We present a case of a 29-year-old Indian female who presented with a femur fracture and mandibular OFC 20 days after delivery. The painless mandibular swelling gradually progressed from the third month of pregnancy. The biochemical and radiological investigations were indicative of PHPT-associated OFC. After the excision of the three-and-a-half parathyroid gland, histology revealed benign cystic adenomas and hyperplasia. Based on the associated clinical manifestations, OFC was suspected. Clinical exome sequencing revealed CDC73(+) c.687_688dupAG heterogenous pathogenic autosomal dominant mutation. Undiagnosed PHPT in mothers during pregnancy led to neonatal hypocalcaemic convulsions. With adequate supplementation, the infant recovered completely from transient congenital hypoparathyroidism. OFC is an important diagnosis to consider in a young patient with swelling of the neck and jaw. Simultaneous high levels of PTH and serum calcium should raise a high index of suspicion for OFC. Parathyroidectomy helps manage the biochemical abnormalities and causes regression of the jaw mass that causes facial disfigurement and attenuates the declining BMD. Children born to mothers with PHPT should be evaluated for neonatal hypoparathyroidism and supplemented appropriately to reduce the risk of hypocalcaemic manifestations that can be life-threatening. If the CDC73 mutation is detected, the offspring should be monitored for signs of PHPT due to the high probability of inheritance and parathyroid malignancy.
Osteitis Fibrosa Cystica ; Hyperparathyroidism, Primary ; Fracture, Pathological ; Fractures, Spontaneous

: The parathyroid glands play a crucial role in calcium regulation through parathyroid hormone (PTH) production. Indicators for those with hyperparathyroidism would be elevated serum calcium and PTH levels with further evaluation followed by imaging with neck ultrasonography and parathyroid scintigraphy. Limitations in the initial imaging modalities include operator-dependent sensitivity in neck ultrasonography, and poor spatial resolution, and poor sensitivity for smaller-sized adenomas in parathyroid scintigraphy. : This case report describes a 24-year-old female with elevated parathyroid hormone, and borderline elevated calcium levels with an initial diagnosis of primary hyperparathyroidism secondary to a suspected parathyroid adenoma. The dual tracer dual-phase scintigraphy accompanied by SPECT/CT and subtraction method was negative for a parathyroid adenoma, however, ultrasonography of the neck showed a suspicious nodular structure. Due to the high clinical suspicion, a subsequent 18F-Choline PET/CT was done and identified an 18F-Choline-avid lesion, highly suggestive of a parathyroid adenoma. This prompted parathyroidectomy in which histopathology as well as intraoperative reduction in parathyroid hormone levels, confirmed the presence of a parathyroid adenoma. This is the first recorded 18F-Choline PET/CT usage for a parathyroid adenoma in the country and highlights the potential of its usage as a sensitive and specific imaging modality in cases where conventional imaging is inconclusive.
Human ; Female ; Young Adult: 19-24 yrs old ; parathyroid adenoma ; parathyroid neoplasms ; hyperparathyroidism

Primary hyperparathyroidism commonly affects elderly women. When present in the young population, it is usually asymptomatic, most frequently due to a parathyroid adenoma and the definitive management is surgical excision. Uncommonly, 5-10% of patients fail to achieve long-term cure after initial parathyroidectomy and 6-16% of them is due to an ectopic parathyroid adenoma that will require focused diagnostic and surgical approaches. We report a 21-year-old male who had bilateral thigh pain. Work-up revealed bilateral femoral fractures, brown tumors on the arms and multiple lytic lesions on the skull. Serum studies showed hypercalcemia (1.83 mmol/L), elevated parathyroid hormone [(PTH) 2025.10 pg/mL], elevated alkaline phosphatase (830 U/L), normal phosphorus (0.92 mmol/L) and low vitamin D levels (18.50 ng/mL). Bone densitometry showed osteoporotic findings. Sestamibi scan showed uptake on the left superior mediastinal region consistent with an ectopic parathyroid adenoma. Vitamin D supplementation was started pre-operatively. Patient underwent parathyroidectomy with neck exploration; however, the pathologic adenoma was not visualized and PTH levels remained elevated post-operatively. Chest computed tomography with intravenous contrast was performed revealing a mediastinal location of the adenoma. A repeat parathyroidectomy was done, with successful identification of the adenoma resulting in a significant drop in PTH and calcium levels. Patient experienced hungry bone syndrome post-operatively and was managed with calcium and magnesium supplementation. A high index of suspicion for an ectopic adenoma is warranted for patients presenting with hypercalcemia and secondary osteoporosis if there is persistent PTH elevation after initial surgical intervention. Adequate follow-up and monitoring is also needed starting immediately in the post-operative period to manage possible complications such as hungry bone syndrome.
Hyperparathyroidism ; Reoperation ; Hypercalcemia

OBJECTIVE: To explore the cause for a twin pregnancy with false negative result for 22q11.2 deletion syndrome by expanded non-invasive prenatal testing (NIPT-plus). METHODS: A pregnant woman with twin pregnancy through in-vitro fertilization and negative result of NIPT-plus was selected as the study subject. Amniocentesis was conducted after ultrasonic finding of fetal abnormalities. In addition to conventional G-banded karyotyping, copy number variation sequencing (CNV-Seq) was used to detect chromosomal microdeletion and microduplication. Clinical data of the woman were analyzed to explore the reasons underlying the false negative result. RESULTS: NIPT-plus has yielded a negative result with 11.77 Mb unique reads and 3.05% fetal fraction. Both fetuses had a normal karyotype (46,XY and 46,XX). CNV-seq indicated that one of the fetuses was normal, whilst the other was diagnosed with a 2.58 Mb deletion in the 22q11.2 region. CONCLUSION The false negative result may be attributed to the combined influence of low fetal fraction, high BMI, twin pregnancy through IVF and a relatively small deletion fragment. Ultrasonography exam following a low-risk result of NIPT-plus should not be neglected.
Pregnancy ; Female ; Humans ; Prenatal Diagnosis ; Pregnancy, Twin/genetics* ; DiGeorge Syndrome/genetics* ; DNA Copy Number Variations ; Amniocentesis