Clinical Overview > Condition/ Syndrome > Parathyroid adenoma
You are looking at 11 - 20 of 22 items
Department of Medicine, Endocrinology Division, Lebanese University, Hadath, Lebanon
Endocrinology Department, Rafic Hariri University Hospital, Beirut, Lebanon
Search for other papers by Carine Ghassan Richa in
Google Scholar
PubMed
Department of Medicine, Endocrinology Division, Lebanese University, Hadath, Lebanon
Endocrinology Department, Mount Lebanon Hospital, Beirut, Lebanon
Search for other papers by Khadija Jamal Saad in
Google Scholar
PubMed
Department of Radiology, Beirut Governmental University Hospital, Beirut, Lebanon
Diagnostic Radiology, Radiology Department
Search for other papers by Ali Khaled Chaaban in
Google Scholar
PubMed
Department of Medicine, Endocrinology Division, Lebanese University, Hadath, Lebanon
Clinical Endocrinology, Endocrinology Department, Rafic Hariri University Hospital, Beirut, Lebanon
Search for other papers by Mohamad Souheil El Rawas in
Google Scholar
PubMed
Summary
The objective of the study is to report a case of acute pancreatitis secondary to hypercalcemia induced by primary hyperparathyroidism in a pregnant woman at the end of the first trimester. The case included a 32-year-old woman who was diagnosed with acute pancreatitis and severe hypercalcemia refractory to many regimens of medical therapy in the first trimester of pregnancy. She was successfully treated with parathyroidectomy in the early second trimester with complete resolution of hypercalcemia and pancreatitis. Neonatal course was unremarkable. To our best knowledge, this is a rare case when primary hyperparathyroidism and its complications are diagnosed in the first trimester of pregnancy. In conclusion, primary hyperparathyroidism is a rare life-threatening condition to the fetus and mother especially when associated with complications such as pancreatitis. Early therapeutic intervention is important to reduce the morbidity and mortality. Parathyroidectomy performed in the second trimester can be the only solution.
Learning points:
-
Learning how to make diagnosis of primary hyperparathyroidism in a woman during the first trimester of pregnancy.
-
Understanding the complications of hypercalcemia and be aware of the high mortality and sequelae in both fetus and mother.
-
Providing the adequate treatment in such complicated cases with coordinated care between endocrinologists and obstetricians to ensure optimal outcomes.
Search for other papers by Caroline Bachmeier in
Google Scholar
PubMed
Search for other papers by Chirag Patel in
Google Scholar
PubMed
Search for other papers by Peter Kanowski in
Google Scholar
PubMed
James Cook University, Townsville, Queensland, Australia
Search for other papers by Kunwarjit Sangla in
Google Scholar
PubMed
Summary
Primary hyperparathyroidism (PH) is a common endocrine abnormality and may occur as part of a genetic syndrome. Inactivating mutations of the tumour suppressor gene CDC73 have been identified as accounting for a large percentage of hyperparathyroidism-jaw tumour syndrome (HPT-JT) cases and to a lesser degree account for familial isolated hyperparathyroidism (FIHP) cases. Reports of CDC73 whole gene deletions are exceedingly rare. We report the case of a 39 year-old woman with PH secondary to a parathyroid adenoma associated with a large chromosomal deletion (2.5 Mb) encompassing the entire CDC73 gene detected years after parathyroidectomy. This case highlights the necessity to screen young patients with hyperparathyroidism for an underlying genetic aetiology. It also demonstrates that molecular testing for this disorder should contain techniques that can detect large deletions.
Learning points:
-
Necessity of genetic screening for young people with hyperparathyroidism.
-
Importance of screening for large, including whole gene CDC73 deletions.
-
Surveillance for patients with CDC73 gene mutations includes regular calcium and parathyroid hormone levels, dental assessments and imaging for uterine and renal tumours.
Search for other papers by Elda Kara in
Google Scholar
PubMed
Search for other papers by Elisa Della Valle in
Google Scholar
PubMed
Search for other papers by Sara De Vincentis in
Google Scholar
PubMed
Unit of Endocrinology, Department of Internal Medicine, Endocrinology, Metabolism, and Geriatrics, Azienda Ospedaliero-Universitaria di Modena, Ospedale Civile di Baggiovara, Modena, Italy
Search for other papers by Vincenzo Rochira in
Google Scholar
PubMed
Search for other papers by Bruno Madeo in
Google Scholar
PubMed
Summary
Spontaneous or fine-needle aspiration (FNAB)-induced remission of primary hyperparathyroidism (PHPT) may occur, especially for cystic lesions. However, the disease generally relapses over a short time period. We present a case of PHPT due to an enlarged hyperfunctioning parathyroid that underwent long-term (almost 9 years) clinical and ultrasonographic remission after the disappearance of the lesion following ultrasound (US)-assisted FNAB. A 67-year-old woman with PHPT underwent biochemical and US examinations that confirmed the diagnosis and showed a lesion suggestive for parathyroid adenoma or hyperplasia. US-FNAB of the lesion confirmed its parathyroid nature by means of elevated levels of parathyroid hormone within the needle washing fluid. At the second visit, the patient referred slight neck swelling that resolved spontaneously in the days after the US-FNAB. At subsequent follow-up, the enlarged parathyroid was not found; it was visible neither with US nor with magnetic resonance imaging. Biochemical remission persists after 9 years. This is the first reported case of cure of PHPT after US-FNAB performed on a hyperfunctioning parathyroid resulting in its complete disappearance over a period of 9 years of negative biochemical and ultrasonographic follow-up.
Learning points:
-
Spontaneous or fine-needle aspiration-induced remission of primary hyperparathyroidism can occur.
-
Both circumstances may present disease relapse over a variable time period, but definite remission is also possible even though long-term periodic follow-up should be performed.
-
Parathyroid damage should be ruled out in case of neck symptomatology after parathyroid fine-needle aspiration or spontaneous symptomatology in patients with history of primary hyperparathyroidism.
Search for other papers by Maryam Heidarpour in
Google Scholar
PubMed
Search for other papers by Mehdi Karami in
Google Scholar
PubMed
Search for other papers by Pegah Hedayat in
Google Scholar
PubMed
Search for other papers by Ashraf Aminorroaya in
Google Scholar
PubMed
Summary
Primary hyperparathyroidism revealed by thoracic spine brown tumor and peptic ulcer bleeding is rare. We presented a case of 33-year-old male patient who was admitted with paraplegia. Thoracic spine magnetic resonance imaging (MRI) showed extradural lesion at T4 level. He underwent surgical decompression in T4. According to histopathologic finding and elevated serum parathormone (PTH) and hypercalcemia (total serum calcium 12.1 mg/dL), the diagnosis of brown tumor was down. Ultrasonography of his neck showed a well-defined lesion of 26 × 14 × 6 mm. The day after surgery, he experienced 2 episodes of melena. Bedside upper gastrointestinal endoscopy showed gastric peptic ulcer with visible vessel. Treatment with intragastric local instillation of epinephrine and argon plasma coagulation was done to stop bleeding. After stabilization of the patient, parathyroidectomy was performed. Histologic study showed the parathyroid adenoma without any manifestation of malignancy. At discharge, serum calcium was normal (8.6 mg/dL). On 40th day of discharge, standing and walking status was normal.
Learning points:
-
Thoracic spine involvement is a very rare presentation of primary hyperparathyroidism.
-
The issue of whether primary hyperparathyroidism increases the risk of peptic ulcer disease remains controversial. However, gastrointestinal involvement has been reported in association with classic severe primary hyperparathyroidism.
-
The treatment of brown tumor varies from case to case.
Search for other papers by Marta Araujo Castro in
Google Scholar
PubMed
Search for other papers by Ainhoa Abad López in
Google Scholar
PubMed
Search for other papers by Luz Martín Fragueiro in
Google Scholar
PubMed
Search for other papers by Nuria Palacios García in
Google Scholar
PubMed
Summary
The 85% of cases of primary hyperparathyroidism (PHPT) are due to parathyroid adenomas (PA) and less than 1% to parathyroid carcinomas (PC). The PA usually measure <2 cm, weigh <1 g and generate a mild PHPT, whereas the PC usually exceeds these dimensions and are associated with a severe PHPT. However, giant PA (GPA), which is defined as those larger than 3 g, has been documented. Those may be associated with very high levels of PTH and calcium. In these cases, their differentiation before and after surgery with PC is very difficult. We present a case of severe PHPT associated with a large parathyroid lesion, and we discuss the differential aspects between the GPA and PC.
Learning points:
-
In parathyroid lesions larger than 2 cm, the differential diagnosis between GPA and PC should be considered.
-
Pre and postsurgical differentiation between GPA and PC is difficult; however, there are clinical, analytical and radiographic characteristics that may be useful.
-
The depth/width ratio larger or smaller than 1 seems to be the most discriminatory ultrasound parameter for the differential diagnosis.
-
Loss of staining for parafibromin has a specificity of 99% for the diagnosis of PC.
-
The simultaneous presence of several histological characteristics, according to the classification of Schantz and Castleman, is frequent in PC and rare in GPA.
Search for other papers by Anna Casteràs in
Google Scholar
PubMed
Search for other papers by Lídia Darder in
Google Scholar
PubMed
Search for other papers by Carles Zafon in
Google Scholar
PubMed
Search for other papers by Juan Antonio Hueto in
Google Scholar
PubMed
Search for other papers by Margarita Alberola in
Google Scholar
PubMed
Search for other papers by Enric Caubet in
Google Scholar
PubMed
Search for other papers by Jordi Mesa in
Google Scholar
PubMed
Summary
Skeletal manifestations of primary hyperparathyroidism (pHPT) include brown tumors (BT), which are osteoclastic focal lesions often localized in the jaws. Brown tumors are a rare manifestation of pHTP in Europe and USA; however, they are frequent in developing countries, probably related to vitamin D deficiency and longer duration and severity of disease. In the majority of cases, the removal of the parathyroid adenoma is enough for the bone to remineralize, but other cases require surgery. Hyperparathyroidism in MEN1 develops early, and is multiglandular and the timing of surgery remains questionable. To our knowledge, there are no reports of BT in MEN 1 patients. We present a 29-year-old woman with MEN 1 who developed a brown tumor of the jaw 24 months after getting pregnant, while breastfeeding. Serum corrected calcium remained under 2.7 during gestation, and at that point reached a maximum of 2.82 mmol/L. Concomitant PTH was 196 pg/mL, vitamin D 13.7 ng/mL and alkaline phosphatase 150 IU/L. Bone mineral density showed osteopenia on spine and femoral neck (both T-scores = −1.6). Total parathyroidectomy was performed within two weeks, with a failed glandular graft autotransplantation, leading to permanent hypoparathyroidism. Two months after removal of parathyroid glands, the jaw tumor did not shrink; thus, finally it was successfully excised. We hypothesize that higher vitamin D and mineral requirements during maternity may have triggered an accelerated bone resorption followed by appearance of the jaw BT. We suggest to treat pHPT before planning a pregnancy in MEN1 women or otherwise supplement with vitamin D, although this approach may precipitate severe hypercalcemia.
Learning points:
-
Brown tumors of the jaw can develop in MEN 1 patients with primary hyperparathyroidism at a young age (less than 30 years).
-
Pregnancy and lactation might trigger brown tumors by increasing mineral and vitamin D requirements.
-
Early parathyroidectomy is advisable in MEN 1 patients with primary hyperparathyroidism, at least before planning a pregnancy.
-
Standard bone mineral density does not correlate with the risk of appearance of a brown tumor.
-
Removal of parathyroid glands does not always lead to the shrinkage of the brown tumor, and surgical excision may be necessary.
Search for other papers by Harish Venugopal in
Google Scholar
PubMed
Search for other papers by Katherine Griffin in
Google Scholar
PubMed
Search for other papers by Saima Amer in
Google Scholar
PubMed
Summary
Resection of primary tumour is the management of choice in patients with ectopic ACTH syndrome. However, tumours may remain unidentified or occult in spite of extensive efforts at trying to locate them. This can, therefore, pose a major management issue as uncontrolled hypercortisolaemia can lead to life-threatening infections. We present the case of a 66-year-old gentleman with ectopic ACTH syndrome from an occult primary tumour with multiple significant complications from hypercortisolaemia. Ectopic nature of his ACTH-dependent Cushing's syndrome was confirmed by non-suppression with high-dose dexamethasone suppression test and bilateral inferior petrosal sinus sampling. The primary ectopic source remained unidentified in spite of extensive anatomical and functional imaging studies, including CT scans and Dotatate-PET scan. Medical adrenolytic treatment at maximum tolerated doses failed to control his hypercortisolaemia, which led to recurrent intra-abdominal and pelvic abscesses, requiring multiple surgical interventions. Laparoscopic bilateral adrenalectomy was considered but decided against given concerns of technical difficulties due to recurrent intra-abdominal infections and his moribund state. Eventually, alcohol ablation of adrenal glands by retrograde adrenal vein approach was attempted, which resulted in biochemical remission of Cushing's syndrome. Our case emphasizes the importance of aggressive management of hypercortisolaemia in order to reduce the associated morbidity and mortality and also demonstrates that techniques like percutaneous adrenal ablation using a retrograde venous approach may be extremely helpful in patients who are otherwise unable to undergo bilateral adrenalectomy.
Learning points
-
Evaluation and management of patients with ectopic ACTH syndrome from an unidentified primary tumour can be very challenging.
-
Persisting hypercortisolaemia in this setting can lead to debilitating and even life-threatening complications and hence needs to be managed aggressively.
-
Bilateral adrenalectomy should be considered when medical treatment is ineffective or poorly tolerated.
-
Percutaneous adrenal ablation may be considered in patients who are otherwise unable to undergo bilateral adrenalectomy.
Search for other papers by Maria P Yavropoulou in
Google Scholar
PubMed
Search for other papers by Nikolina Gerothanasi in
Google Scholar
PubMed
Search for other papers by Athanasios Frydas in
Google Scholar
PubMed
Search for other papers by Evangelia Triantafyllou in
Google Scholar
PubMed
Search for other papers by Chris Poulios in
Google Scholar
PubMed
Search for other papers by Prodromos Hytiroglou in
Google Scholar
PubMed
Search for other papers by Panagiotis Apostolou in
Google Scholar
PubMed
Search for other papers by Ioannis Papasotiriou in
Google Scholar
PubMed
Search for other papers by Symeon Tournis in
Google Scholar
PubMed
Search for other papers by Isaak Kesisoglou in
Google Scholar
PubMed
Search for other papers by John G Yovos in
Google Scholar
PubMed
Summary
Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome caused primarily by benign mesenchymal tumors. These tumors typically follow a benign clinical course and local recurrence occurs in <5% of cases. We investigated a 49-year-old man with a recurrent mesenchymal phosphaturic tumor showing no signs of malignancy. The patient suffered from chronic muscle weakness, myalgia and cramps. His medical record included the diagnosis of oncogenic osteomalacia, for which he was submitted to tumor resection in the left leg three times before. Laboratory examination showed hypophosphatemia, hyperphosphaturia and an elevated serum FGF23 level. A radical surgical approach (amputation) was advised, however, complete biochemical and clinical remission was not reached. Molecular analysis of the tumor cells demonstrated overexpression of growth factor receptors implicated in tumor angiogenesis and metastatic potential (platelet derived growth factor type A (PDGFRA), PDGFRB and vascular endothelial growth factor receptor) together with increased expression of FGF23, x-linked-phosphate-regulating endopeptidase and KLOTHO. TIO is usually associated with benign phosphauturic tumors and, when identified, resection of the tumor leads to complete remission in the majority of cases. The underlying pathophysiology of recurrences in these tumors is not known. This is the first report showing increased expression of growth factor receptors in a locally aggressive but histopathologically benign phosphaturic mesenchymal tumor.
Learning points
-
TIO is usually associated with benign soft tissue or bone neoplasms of mesenchymal origin.
-
These tumors typically follow a benign clinical course and even in the rare malignant cases local recurrence occurs in <5%.
-
Successful identification and removal of the tumor leads to full recovery in the majority of cases.
Search for other papers by Shweta Birla in
Google Scholar
PubMed
Search for other papers by Viveka P Jyotsna in
Google Scholar
PubMed
Search for other papers by Rajiv Singla in
Google Scholar
PubMed
Search for other papers by Madhavi Tripathi in
Google Scholar
PubMed
Search for other papers by Arundhati Sharma in
Google Scholar
PubMed
Summary
Multiple endocrine neoplasia type 1 (MEN-1) is a rare autosomal-dominant disease characterized by tumors in endocrine and/or non endocrine organs due to mutations in MEN1 encoding a nuclear scaffold protein‘menin’ involved in regulation of different cellular activities. We report a novel 14 bp MEN1 deletion mutation in a 35-year-old female with history of recurrent epigastric pain, vomiting, loose stools and weight loss. On evaluation she was diagnosed to have multifocal gastro-duodenal gastrinoma with paraduodenal lymph nodes and solitary liver metastasis. She was also found to have primary hyperparathyroidism with bilateral inferior parathyroid adenoma. Pancreatico-duodenectomy with truncalvagotomy was performed. Four months later, radiofrequency ablation (RFA) of segment 4 of the liver was done followed by three and a half parathyroidectomy. MEN1 screening was carried out for the patient and her family members. MEN-1 sequencing in the patient revealed a heterozygous 14 bp exon 8 deletion. Evaluation for pathogenicity and protein structure prediction showed that the mutation led to a frameshift thereby causing premature termination resulting in a truncated protein. To conclude, a novel pathogenic MEN1 deletion mutation affecting its function was identified in a patient with hyperparathyroidism and gastrinoma. The report highlights the clinical consequences of the novel mutation and its impact on the structure and function of the protein. It also provides evidence for co-existence of pancreatic and duodenal gastrinomas in MEN1 syndrome. MEN1 testing provides important clues regarding etiology and therefore should be essentially undertaken in asymptomatic first degree relatives who could be potential carriers of the disease.
Learning points
-
Identification of a novel pathogenic MEN1 deletion mutation.
-
MEN1 mutation screening in patients with pituitary, parathyroid and pancreatic tumors, and their first degree relatives gives important clues about the etiology.
-
Pancreatic and duodenal gastrinomas may co-exist simultaneously in MEN1 syndrome.
Search for other papers by Lara Ulrich in
Google Scholar
PubMed
Search for other papers by Graham Knee in
Google Scholar
PubMed
Search for other papers by Colin Todd in
Google Scholar
PubMed
Summary
Haemorrhage of a parathyroid adenoma is a rare clinical presentation. This report describes a previously fit and well 54-year-old woman who presented with acute neck swelling and pain with an overlying ecchymosis. Admission laboratory tests revealed a raised parathyroid hormone and hypercalcaemia. A computed tomography (CT) scan showed widespread anterior cervical haemorrhage and a lesion at the inferior pole of the left thyroid gland. A working diagnosis of spontaneous haemorrhage from a parathyroid adenoma was made. As she was haemodynamically stable, she was treated conservatively with a period of observation in hospital to monitor for signs of neck organ compression. Follow-up imaging with CT, ultrasound and sestamibi confirmed the likely source of haemorrhage as a parathyroid nodule with significant vascularity. The diagnosis was confirmed on histopathological analysis after elective surgical exploration of the neck 6 months after her presentation. This revealed a benign parathyroid adenoma with evidence of acute and chronic bleeding. The patient made a full recovery with immediate normalisation of her biochemistry post-operatively. Despite developing a hoarse voice in the immediate post-operative period, this resolved completely within 1 month. This case report provides further evidence to support a minimal delay for elective surgery after conservative management to reduce the risks associated with recurrent bleeding.
Learning points
-
Haemorrhage of a parathyroid adenoma should be a differential for all cases of acute cervical swelling or ecchymosis with no precipitating factor.
-
The clerking should identify any risk factors for endocrine disease.
-
Blood tests to screen for abnormal parathyroid biochemistry should be performed on admission.
-
Detailed imaging of the neck is essential to identify the source of haemorrhage and risk of compression to vital neck organs.
-
Conservative management is a suitable option for patients who remain haemodynamically stable but all should undergo a period of observation in hospital.
-
Conservatively managed patients should be considered for definitive surgical exploration within a month of presentation to avoid the risks of recurrent bleeding.