A Novel Mutation in a Patient with HyperparathyroidismJaw Tumor Syndrome

Published: 2019-10-08 07:00:00
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The article, A Novel Mutation in a Patient with HyperparathyroidismJaw Tumor Syndrome is used to explain hyperparathyroidism, which is the weakening of bones resulting from the high parathyroid hormone concentration in blood where more calcium is lost. Hyperparathyroidism is the overactivity of the parathyroid glands that are located in the neck and leads to the high concentration of parathyroid hormone in the blood. These parathyroid glands produce a hormone that helps in maintaining calcium in the tissues and blood stream for proper functioning. In such terms, it leads to two types of hyperparathyroidism, which includes primary and secondary hyperparathyroidism. In primary hyperparathyroidism, the parathyroid hormone is produced in excess due to the enlargement of the glands leading to hypercalcemia, which causes health problems. In that regard, surgery is the known solution to hyperparathyroidism. Secondary hyperparathyroidism occurs when there is a low level of calcium, which is caused by another disease where the levels of parathyroid hormone increase.

Hyperparathyroidism-jaw tumour syndrome (HPT-JT) is a familial hyperparathyroidism, which has a rare variant and characterized by primary hyperparathyroidism (PHPT) due to the benign maxilla and mandible tumors and adenomas of multiple parathyroids. It has the pattern of inheritance, which is dominant and autosomal that is mutation associated to deactivate the cycle of cell division. Along the arm of chromosome 1, is the location of hyperparathyroidism (2HRPT2) that encodes protein parafibromin for the tumour suppressor. In that case, HPT-JT may lead to parathyroid carcinoma of an elevated risk, and severe complications of hypercalcemia-related. Therefore it is good to identify the disease at an early age to prevent the occurrence of such complications. In such terms, for Hyperparathyroidismjaw tumour syndrome (HPT-JT) the case of a 23-year-old woman is presented as she was found sick of such a disease and diagnosed with PHPT later.

HyperparathyroidismJaw tumour (HPT-JT) syndrome (OMIM no.145001) is clinically and genetically considered as primary hyperparathyroidism of rare familial variant, and it is distinct from endocrine neoplasia syndromes. Multiple endocrine neoplasias (MEN) consist of several syndromes that are distinct in featuring endocrine glands tumors with a different pattern of characteristics. In that regard, a tumor can be benign or malignant. Multiple Endocrine Neoplasia has no cure, but doctors tend to treat with surgery changes that occur in each gland. Tests of genetic screening detect people who have Syndromes of multiple endocrine neoplasia diseases in the members of the family. Depending on the affected organs, symptoms vary from one to another. Syndromes of Multiple endocrine neoplasia run in families as gene mutation is its causal effect. These are the inherited syndromes in most cases, and they tend to appear in old people of 70 years and to the infants. The syndromes of multiple endocrine neoplasia occur in patterns of three such as types 1, 2A, and 2B. These types may overlap occasionally. The abnormal large glands and tumors produce hormones in excess to the blood stream. Over sometimes changes often take place even though abnormal large glands and tumors growth occurs at the same time In many glands.

People with type 1 multiple endocrine neoplasia develop the excessive activity, growth, and tumors of two or more of the adrenal, the thyroid, the pituitary, the pancreas, and the parathyroid glands. Most people with type 1 multiple endocrine neoplasia have the parathyroid glands tumors. They cause excessive production of parathyroid hormone by the glands, but those tumors are noncancerous. In such terms, when parathyroid hormone produced in excess the level of calcium in the blood goes up hence causing kidney stones. People with type 2A multiple endocrine neoplasia develop the excessive activity, growth, and tumors in two or three of the parathyroid, adrenal, thyroid glands. The cutaneous lichen amyloidosis, which is the itching condition, occasionally occurs in individuals with type 2A disease. Many individuals with this sort of a disease develop in the adrenal glands certain tumors and thyroid cancer of the medulla. Others their parathyroid glands become overactive. In such terms, the level of calcium is increased in the blood due to an excess of parathyroid hormone, which finally results to kidney stones.

Type 2B Multiple endocrine neoplasia includes neuromas, Pheochromocytomas, and cancer of Medullary thyroid. Individuals with type 2B disease have no history of the family because it results from a gene mutation. The tumors of medullary thyroid in type 2B disease spread rapidly and grow faster as compared to those in type 2A. Cancer of medullary thyroid of type 2B develops at an early age of 3months of the infants. The mucous membranes of persons with type 2B disease develop neuromas which appear as bumps that are glistening around the mouth lining, tongue, and lips. It can also occur on eye surfaces such as the cornea and conjunctiva.

Lessons learnt: I have learnt about the two types of hyperparathyroidism that include primary and secondary. I have learnt that another disease where the calcium level in the body goes down causes secondary hyperparathyroidism and parathyroid hormone increases. Primary hyperparathyroidism the parathyroid hormone is produced in excess due to the enlargement of the glands leading to hypercalcemia, which causes health problems. Also, I have learnt about multiple endocrine neoplasia, its types, and each affects individuals with that disease.


Bellido, Virginia, Ihintza Larranaga, Maite Guimon, Rafael Martinez-Conde, Asier Eguia, Gustavo Perez de Nanclares, Luis Castano, and Sonia Gaztambide. "A Novel Mutation in a Patient with HyperparathyroidismJaw Tumour Syndrome." Endocrine pathology 27, no. 2 (2016): 142-146.

Brandi, M. L., and Edward M. Brown. Hypoparathyroidism. 2015.

Licata, Angelo A., and Edgar V. Lerma. Diseases of the Parathyroid Glands. New York: Springer, 2012

Nelkin, Barry D. Genetic Mechanisms in Multiple Endocrine Neoplasia Type 2. New York: Chapman & Hall, 2013.

Pisegna, Joseph R. Management of Pancreatic Neuroendocrine Tumors. 2014.

Stratakis, Constantine A. Endocrine Tumor Syndromes, and Their Genetics. Basel: Karger, 2013.



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