Limits...
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

Gene analysis results. A novel splicing mutation in the TSC1 gene. Mutated and normal nucleotides (A and G, respectively) were present in the patient.
© Copyright Policy - open-access
Related In: Results  -  Collection

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

Fig4: Gene analysis results. A novel splicing mutation in the TSC1 gene. Mutated and normal nucleotides (A and G, respectively) were present in the patient.

Mentions: Previously, the patient had been clinically diagnosed with TSC. At this point, we decided that a genetic test should also be performed because new complications had been found, such as parathyroid adenoma. In the parathyroid adenoma, the TSC gene may have undergone loss of heterozygosity (LOH). A novel splicing mutation was revealed by direct sequencing analysis of the TSC1 gene extracted from peripheral blood. This gene abnormality occurred at the location of an important consensus sequence of the splicing site, and the probability of a gene splicing abnormality is high. Thus, we surmised that the mutation might be pathogenic (FigureĀ 4). The results of the analysis of the TSC2 gene were normal. Genetic testing was performed by the Research Center for Bioscience and Technology at Tottori University.Figure 4


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)

Gene analysis results. A novel splicing mutation in the TSC1 gene. Mutated and normal nucleotides (A and G, respectively) were present in the patient.
© Copyright Policy - open-access
Related In: Results  -  Collection

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

Fig4: Gene analysis results. A novel splicing mutation in the TSC1 gene. Mutated and normal nucleotides (A and G, respectively) were present in the patient.
Mentions: Previously, the patient had been clinically diagnosed with TSC. At this point, we decided that a genetic test should also be performed because new complications had been found, such as parathyroid adenoma. In the parathyroid adenoma, the TSC gene may have undergone loss of heterozygosity (LOH). A novel splicing mutation was revealed by direct sequencing analysis of the TSC1 gene extracted from peripheral blood. This gene abnormality occurred at the location of an important consensus sequence of the splicing site, and the probability of a gene splicing abnormality is high. Thus, we surmised that the mutation might be pathogenic (FigureĀ 4). The results of the analysis of the TSC2 gene were normal. Genetic testing was performed by the Research Center for Bioscience and Technology at Tottori University.Figure 4

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