Differences in the Presentation and Outcome between Premenopausal and Postmenopausal Primary Hyperparathyroidism Indian Women: A Single-Center Experience.

Introduction: Primary hyperparathyroidism (PHPT) is an endocrine disorder wherein enlargement of one or more of the parathyroid glands causes autonomous overproduction of the parathyroid hormone (PTH), which leads to high serum calcium levels. Objective: The objective of this study was to compare the clinical, laboratory, and operative variables between premenopausal (pre-M) and postmenopausal (post-M) women with PHPT. Materials and Methods: A retrospective analysis of the data of female patients who underwent surgery for PHPT at a single center, from January 2011 to December 2020, was done. Patients with familial PHPT and secondary hyperparathyroidism were not included. Results: Of the 130 women with PHPT, 44.6% were pre-M and 55.4% were post-M. A significantly higher number of pre-M females were symptomatic compared to post-M females (pre-M vs. post-M, 84.5% vs. 68.1%, P = 0.031). Renal calculi were more common in pre-M women (34.5% vs. 18.1%, P = 0.032), while the rest of the clinical features were comparable between the two groups. The proportion of women with osteoporosis (6.7% vs. 19.4%, P = 0.071), hypertension (13.8% vs. 34.7%, P = 0.012), and diabetes mellitus (3.5% vs. 16.7%, P = 0.033) was lesser in the pre-M group. Elevated serum alkaline phosphatase levels were significantly more prevalent in the pre-M group (37.9% vs. 20.8%, P = 0.032). The mean serum calcium (12.35 ± 1.28 vs. 11.96 ± 1.22 mg/dL, P = 0.079), median serum PTH (334 vs. 239 pg/mL, P = 0.051), and median weight of the operated adenomas (1.75 vs. 1.45 g, P = 0.075) were also higher in pre-M females. The proportion of ectopic adenomas and multiple adenomas, presurgery adenoma localization rates, and disease cure rates did not differ according to the menopausal status. The occurrence of postoperative hungry bone syndrome was higher in the pre-M women (15.5% vs. 1.4%, P = 0.008). Conclusion: The majority of women with PHPT are post-M, but symptomatic presentation is more common in pre-M females. The severity of the disease appears to be more in pre-M women; however, imaging and operative variables generally did not significantly differ between the two groups.

Differences in the Clinical Presentation and Biochemical Profile of the Patients with Primary Hyperparathyroidism with regard to their Serum Vitamin D Levels: a Single-center Experience.

The association between vitamin D deficiency and primary hyperparathyroidism (PHPT) is common and has clear implications. Vitamin D deficiency is commonly seen in PHPT population and exacerbates its severity with skeletal and metabolic effects. Retrospective data collection and review were done in patients who underwent surgery for PHPT at a tertiary care hospital in India between January 2011 and December 2020. A total of 150 subjects were included in the study and were divided into group 1 (vitamin D < 20 ng/ml, deficient), group 2 (vitamin D 21-29 ng/ml, insufficient), and group 3 (vitamin D > 30 ng/ml, sufficient). There was no difference in the duration of symptoms or the symptomatology between the three groups. Mean pre-operative serum calcium and serum phosphorous levels were also comparable in all the three groups. Mean pre-operative parathyroid hormone (PTH) levels in the three groups were 703 ± 996 vs 343.6 ± 396 vs 343.6 ± 396 pg/ml, respectively (P = 0.009). There was a statistically significant difference in group 1 vs groups 2 and 3 in their mean weight of the parathyroid gland (P = 0.018) and high alkaline phosphatase (ALP) levels (P = 0.047). Post-operative symptomatic hypocalcemia was observed in 17.3% of patients. Post-operative hungry bone syndrome occurred in 4 patients, all in group 1. PHPT in patients with low serum vitamin D was associated with higher serum PTH levels, increased frequency of high serum ALP levels, and higher weight of the excised gland, with no difference in the serum calcium and phosphorous.

Management of Primary Hyperparathyroidism.

Primary hyperparathyroidism (PHPT) is the unregulated overproduction of parathyroid hormone (PTH) resulting in abnormal calcium homeostasis. The disease profile has evolved over the last century from symptomatic hyperparathyroidism to asymptomatic hyperparathyroidism. Primary hyperparathyroidism is a biochemical diagnosis. Parathyroidectomy is the only established cure for this disease. Every effort is made to localize the offending gland preoperaively with various imaging modalities. These localization studies along with intraoperative parathormone monitoring will direct the surgeon to either a focused parathyroidectomy or a four gland exploration. All symptomatic patients and asymptomatic patients who meet the criteria for surgery should undergo parathyroidectomy if no medical contraindications exist. Pharmacologic approaches are reserved for those patients unfit or unwilling to undergo surgery.

Extracorporeal radiation and reimplantation: a safe and viable option for reconstruction after sacral tumor resection?

Primary tumors of the sacrum are difficult to manage, as they often require morbid resections and complex reconstructions. In the case of tumors such as chordoma or chondrosarcoma, aggressive resections are often required to achieve appropriate margins (extending disease-free survival), followed by complex reconstructions. These reconstructions are aimed at restoring the pelvic ring and have traditionally resulted in a lumbosacral construct that utilizes structural allograft/autograft bone (fibula most commonly used) and more recently, reconstruction with 3D-printed custom sacral prostheses. While there are no reports of anatomical reconstruction using sacral allografts, extracorporeal radiation therapy (ECRT) and reimplantation provides a size and shape-matched irradiated autograft which avoids the cultural stigma, structural strength and graft-host concerns associated with allografts, as well as the high costs and time to production associated with custom 3D-printed implants. Here we present an illustrative case with technical notes, outlining the steps used at our center for ECRT. While early results with ECRT in the sacrum are promising, future larger studies should be carried out to help detect differences that may exist in long-term complications.

An Indian family of multiple endocrine neoplasia type 1 (MEN1): molecular diagnosis, treatment and follow up.

BACKGROUND/OBJECTIVE: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal, dominant syndrome, characterized mainly by the combination of tumors involving the parathyroid, pancreatic and pituitary glands. Genetic sequencing leading to early treatment of family members has not yet been reported in Indian patients. METHODS: We performed molecular analysis of the MEN1 gene to identify mutations in an Indian family with MEN1 syndrome. The proband was identified with multiple peptic ulcers because of multifocal recurrent gastrinomas, as well as parathyroid and pituitary adenomas. All the 10 exons of the MEN1 gene were amplified using the polymerase chain reaction (PCR). The MEN1 gene was then screened by direct DNA sequencing. RESULTS: The proband is asymptomatic 3 years after total pancreatectomy and removal of parathyroid adenomas. DNA sequencing revealed the presence of a heterozygous Y227X mutation in exon 4 of the MEN1 gene in the proband. Four of the seven mutant-carrying family members are at present asymptomatic. Following screening, one asymptomatic child has been identified with and treated for insulinoma and parathyroid adenoma. CONCLUSION: Detection of the MEN1 gene mutation enables selection of family members for screening and long-term follow up.

MEN1 935-1G>C splicing mutation in an Indian patient with multiple endocrine neoplasia type 1.

BACKGROUND AND OBJECTIVE: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant syndrome characterized mainly by multiple tumors involving parathyroid, pancreatic, and pituitary glands. To date, there have been no genetic studies reported on MEN1 in the Indian population. In order to begin to establish molecular diagnosis to improve the management of MEN1 in India, we performed a molecular analysis of the MEN1 gene in a patient of Indian origin. METHODS: Molecular analysis of the MEN1 gene was performed to identify mutations in an Indian patient previously diagnosed with sporadic MEN1. All the 10 exons of the MEN1 gene were amplified using the polymerase chain reaction and screened by direct DNA sequencing. RESULTS: The DNA sequencing results revealed the presence of an intronic, heterozygous, splicing mutation 935-1G>C in intron 5 of the MEN1 gene. CONCLUSION: This study provides the first data on genetic analysis of MEN1 in Indian patients.

Co-existence of peri-ampullary carcinoma with peripancreatic tuberculous lymphadenopathy.

CONTEXT: Pancreatic tuberculosis and peripancreatic tuberculous lymphadenitis are rare, mimicking various pathologies of the pancreas. The coexistence of peri-ampullary malignancy with peripancreatic tuberculous lymphadenitis has not been reported. CASE REPORT: We present the case of a young woman who had been operated on with a preoperative diagnosis of peri-ampullary adenocarcinoma in whom a frozen section of regional lymph nodes revealed tuberculosis. The final pathology confirmed the co-existence of tuberculosis with malignancy. The patient made an uneventful recovery. CONCLUSION: In countries with high endemicity for tuberculosis, the co-existence of malignancy and tuberculosis should be considered and resection, which is the only chance for cure, should not be abandoned due to observations based solely on frozen sections.

Atypical distant metastases from hypopharyngeal cancer.

Hypopharyngeal squamous carcinoma is an aggressive disease with a high frequency of local and distant spread. Distant metastasis is seen more often now because of better loco-regional control due to more aggressive multimodal therapy. This article reports two cases of unusual metastatic disease from squamous carcinoma of pyriform sinus and reviews the metastatic disease in hypopharyngeal squamous cancers. The first was a case of metastatic pericardial effusion and the second was a metastasis to soft tissues of the scapular region and lung.