Should all patients with hyperparathyroidism be screened for a CDC73 mutation?

Bachmeier, Caroline, Patel, Chirag, Kanowski, Peter, and Sangla, Kunwarjit (2018) Should all patients with hyperparathyroidism be screened for a CDC73 mutation? Endocrinology, Diabetes & Metabolism Case Reports, 2018 (1).

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Abstract

Primary hyperparathyroidism (PH) is a common endocrine abnormality and may occur as part of a genetic syndrome. Inactivating mutations of the tumour suppressor gene CDC73 have been identified as accounting for a large percentage of hyperparathyroidism-jaw tumour syndrome (HPT-JT) cases and to a lesser degree account for familial isolated hyperparathyroidism (FIHP) cases. Reports of CDC73 whole gene deletions are exceedingly rare. We report the case of a 39 year-old woman with PH secondary to a parathyroid adenoma associated with a large chromosomal deletion (2.5 Mb) encompassing the entire CDC73 gene detected years after parathyroidectomy. This case highlights the necessity to screen young patients with hyperparathyroidism for an underlying genetic aetiology. It also demonstrates that molecular testing for this disorder should contain techniques that can detect large deletions.

Item ID: 69779
Item Type: Article (Case Study)
ISSN: 2052-0573
Copyright Information: This work is licensed under a CC-CY NC ND license
Date Deposited: 03 Nov 2021 00:29
FoR Codes: 32 BIOMEDICAL AND CLINICAL SCIENCES > 3202 Clinical sciences > 320208 Endocrinology @ 50%
32 BIOMEDICAL AND CLINICAL SCIENCES > 3202 Clinical sciences > 320208 Endocrinology @ 50%
SEO Codes: 20 HEALTH > 2001 Clinical health > 200101 Diagnosis of human diseases and conditions @ 100%
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