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A case of tuberous sclerosis complex with concomitant primary hyperparathyroidism due to parathyroid adenoma: a case report.

Shinzato Y, Ikehara Y - World J Surg Oncol (2015)

Bottom Line: TSC with concomitant parathyroid adenoma is extremely rare; only three cases have been reported worldwide.However, each of these cases was diagnosed clinically.Therefore, our case is the first to be diagnosed with genetic testing.

View Article: PubMed Central - PubMed

Affiliation: Department of Pediatrics, Chubu Tokushukai Hospital, Teruya 3-20-1, Okinawa City, Okinawa Prefecture, 904-8585, Japan. sinzato@cyutoku.or.jp.

ABSTRACT
The patient was a 27-year-old woman who was clinically diagnosed with tuberous sclerosis complex (TSC). She developed hypercalcemia and hypophosphatemia at age 23. In a detailed examination at age 26, she was diagnosed with primary hyperparathyroidism due to parathyroid adenoma. After undergoing parathyroidectomy, her hypercalcemia and hypophosphatemia rapidly normalized. Subsequent genetic testing revealed mutations of the TSC1 gene. TSC with concomitant parathyroid adenoma is extremely rare; only three cases have been reported worldwide. However, each of these cases was diagnosed clinically. Therefore, our case is the first to be diagnosed with genetic testing.

No MeSH data available.


Related in: MedlinePlus

Parathyroid adenoma resection sample. The sample weighed 0.3 g. We observed densely hyperplastic chief primary cells without fat cells. No atypia or evidence of infiltration is seen. Although a normal rim cannot be seen, the sample was considered a parathyroid adenoma based on the enlargement of one gland. A (Left): ×4; B (Right): ×10. Hematoxylin and eosin staining.
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Fig3: Parathyroid adenoma resection sample. The sample weighed 0.3 g. We observed densely hyperplastic chief primary cells without fat cells. No atypia or evidence of infiltration is seen. Although a normal rim cannot be seen, the sample was considered a parathyroid adenoma based on the enlargement of one gland. A (Left): ×4; B (Right): ×10. Hematoxylin and eosin staining.

Mentions: Hypercalcemia and hypophosphatemia developed and gradually progressed from age 23, according to regular annual testing (Table 1). She has shown no symptoms of hypercalcemia, such as fracture or renal stone. Bone mineral density (BMD) of the lumbar spine was normal (T-score: −0.7) and renal function was also normal (creatinine: 0.55 mg/dL). Thus, when the patient underwent detailed examination at age 26, she was diagnosed with asymptomatic primary hyperparathyroidism with increased parathyroid hormone activity (intact PTH) (Table 2). The results of tests of thyroid function, gastrin, insulin glucagon, vasoactive intestinal peptide, and prolactin were all normal. Cervical ultrasonography showed a mass shadow with a 1-cm diameter at a site corresponding to the right inferior pole of the thyroid gland. Technetium-99m methoxy-isobutyl isonitrile (Tc99m MIBI) scintigraphy demonstrated accumulation at the same site that had been identified through ultrasonography (Figures 1 and 2). She underwent minimally invasive parathyroidectomy (PTx). The resected parathyroid adenoma weighed 0.3 g, and we observed densely hyperplastic chief primary cells without fat cells. No atypia or evidence of infiltration was seen. Although a normal rim could not be observed, the sample was considered a parathyroid adenoma based on the enlargement of one gland (Figure 3). Following surgery, the hypercalcemia, hypophosphatemia, and the plasma intact PTH level rapidly normalized. These values currently remain at normal levels, 1 year after PTx (Table 3).Table 1


A case of tuberous sclerosis complex with concomitant primary hyperparathyroidism due to parathyroid adenoma: a case report.

Shinzato Y, Ikehara Y - World J Surg Oncol (2015)

Parathyroid adenoma resection sample. The sample weighed 0.3 g. We observed densely hyperplastic chief primary cells without fat cells. No atypia or evidence of infiltration is seen. Although a normal rim cannot be seen, the sample was considered a parathyroid adenoma based on the enlargement of one gland. A (Left): ×4; B (Right): ×10. Hematoxylin and eosin staining.
© Copyright Policy - open-access
Related In: Results  -  Collection

License 1 - License 2
Show All Figures
getmorefigures.php?uid=PMC4359518&req=5

Fig3: Parathyroid adenoma resection sample. The sample weighed 0.3 g. We observed densely hyperplastic chief primary cells without fat cells. No atypia or evidence of infiltration is seen. Although a normal rim cannot be seen, the sample was considered a parathyroid adenoma based on the enlargement of one gland. A (Left): ×4; B (Right): ×10. Hematoxylin and eosin staining.
Mentions: Hypercalcemia and hypophosphatemia developed and gradually progressed from age 23, according to regular annual testing (Table 1). She has shown no symptoms of hypercalcemia, such as fracture or renal stone. Bone mineral density (BMD) of the lumbar spine was normal (T-score: −0.7) and renal function was also normal (creatinine: 0.55 mg/dL). Thus, when the patient underwent detailed examination at age 26, she was diagnosed with asymptomatic primary hyperparathyroidism with increased parathyroid hormone activity (intact PTH) (Table 2). The results of tests of thyroid function, gastrin, insulin glucagon, vasoactive intestinal peptide, and prolactin were all normal. Cervical ultrasonography showed a mass shadow with a 1-cm diameter at a site corresponding to the right inferior pole of the thyroid gland. Technetium-99m methoxy-isobutyl isonitrile (Tc99m MIBI) scintigraphy demonstrated accumulation at the same site that had been identified through ultrasonography (Figures 1 and 2). She underwent minimally invasive parathyroidectomy (PTx). The resected parathyroid adenoma weighed 0.3 g, and we observed densely hyperplastic chief primary cells without fat cells. No atypia or evidence of infiltration was seen. Although a normal rim could not be observed, the sample was considered a parathyroid adenoma based on the enlargement of one gland (Figure 3). Following surgery, the hypercalcemia, hypophosphatemia, and the plasma intact PTH level rapidly normalized. These values currently remain at normal levels, 1 year after PTx (Table 3).Table 1

Bottom Line: TSC with concomitant parathyroid adenoma is extremely rare; only three cases have been reported worldwide.However, each of these cases was diagnosed clinically.Therefore, our case is the first to be diagnosed with genetic testing.

View Article: PubMed Central - PubMed

Affiliation: Department of Pediatrics, Chubu Tokushukai Hospital, Teruya 3-20-1, Okinawa City, Okinawa Prefecture, 904-8585, Japan. sinzato@cyutoku.or.jp.

ABSTRACT
The patient was a 27-year-old woman who was clinically diagnosed with tuberous sclerosis complex (TSC). She developed hypercalcemia and hypophosphatemia at age 23. In a detailed examination at age 26, she was diagnosed with primary hyperparathyroidism due to parathyroid adenoma. After undergoing parathyroidectomy, her hypercalcemia and hypophosphatemia rapidly normalized. Subsequent genetic testing revealed mutations of the TSC1 gene. TSC with concomitant parathyroid adenoma is extremely rare; only three cases have been reported worldwide. However, each of these cases was diagnosed clinically. Therefore, our case is the first to be diagnosed with genetic testing.

No MeSH data available.


Related in: MedlinePlus