Genetics of parathyroids disorders: overview

Publication date: Available online 28 September 2018Source: Best Practice & Research Clinical Endocrinology & MetabolismAuthor(s): Falchetti AlbertoAbstractSeveral familial forms of primary hyperparathyroidism (PHTP) have been discovered over the past 25 years, and molecular test for their risk assessment has been widely increasing. These syndromic and non-syndromic forms have received benefits from the identification of the responsible genes whose mutations account for the genetic susceptibility to develop parathyroid tumours as also other endocrine and nonendocrine tumours. In recent years, care options have been made available to patients and families with hereditary PHPT, and the process of systematically assessing the genetic risk has been becoming increasingly important. The aim of this review is to help health providers not frequently dealing with genetic testing use, introducing general concepts with regard to genetic diagnosis issues. The role and the practical usefulness of DNA-based diagnosis in patients affected by different forms of “congenital” PHPT is described, closely looking on why, when and how genetic testing should be performed in these subjects and their relatives. Moreover, this review will provide some practical suggestions and recommendations concerning on how to deal with a suspected or known case of familial PHPT.

Source: Best Practice and Research Clinical Endocrinology and Metabolism - October 5, 2018 Category: Endocrinology Source Type: research