Hyperparathyroidism 1

The spectrum of CDC73-related disorders includes the following phenotypes: Hyperparathyroidism-jaw tumor (HPT-JT) syndrome. Primary hyperparathyroidism occurs in a vast majority of affected individuals, with onset typically in late adolescence or early adulthood. HPT-JT syndrome-associated primary hyperparathyroidism is usually caused by a single parathyroid adenoma. In at least 10%-15% of individuals, primary hyperparathyroidism is caused by parathyroid carcinoma. Ossifying fibromas of the mandible or maxilla, also known as cementifying fibromas and cemento-ossifying fibromas, occur in 30%-40% of individuals with HPT-JT syndrome. Although benign, these tumors can be locally aggressive and may continue to enlarge if not treated. Up to 20% of individuals with HPT-JT syndrome have kidney lesions, most commonly cysts; renal hamartomas and (more rarely) Wilms tumor have also been reported. Benign uterine tumors appear to be common in women with HPT-JT syndrome; uterine malignancies have also been reported. Parathyroid carcinoma. Most parathyroid carcinomas are functional, resulting in primary hyperparathyroidism and a high serum calcium level; however, nonfunctioning parathyroid carcinomas are also rarely described in individuals with a CDC73-related disorder. A germline CDC73 pathogenic variant has been identified in 20%-29% of individuals with parathyroid carcinoma without a known family history of CDC73-related conditions. Familial isolated hyperparathyroidism (FIHP). Characterized by primary hyperparathyroidism without other associated syndromic features. Individuals with CDC73-related FIHP tend to have a more severe clinical presentation and younger age of onset than individuals with FIHP in whom a CDC73 pathogenic variant has not been identified.

Full text of GeneReview (by section):

Summary

GeneReview Scope

Diagnosis

Clinical Characteristics

Genetically Related (Allelic) Disorders

Differential Diagnosis

Management

Genetic Counseling

Resources

Molecular Genetics

Chapter Notes

References

Authors:

Catherine M Skefos

Steven G Waguespack

Nancy D Perrier

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