Bachmeier Caroline, Patel Chirag, Kanowski Peter, Sangla Kunwarjit
Endocrinology Department, Townsville Hospital, Townsville, Queensland, Australia.
Genetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, Queensland, Australia.
Endocrinol Diabetes Metab Case Rep. 2018 Mar 8;2018. doi: 10.1530/EDM-17-0164. eCollection 2018.
Primary hyperparathyroidism (PH) is a common endocrine abnormality and may occur as part of a genetic syndrome. Inactivating mutations of the tumour suppressor gene 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 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 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.
Necessity of genetic screening for young people with hyperparathyroidism.Importance of screening for large, including whole gene deletions.Surveillance for patients with gene mutations includes regular calcium and parathyroid hormone levels, dental assessments and imaging for uterine and renal tumours.
原发性甲状旁腺功能亢进症（PH）是一种常见的内分泌异常，可能作为遗传综合征的一部分出现。肿瘤抑制基因的失活突变已被确定在很大比例的甲状旁腺功能亢进-颌骨肿瘤综合征（HPT-JT）病例中起作用，在较小程度上也导致家族性孤立性甲状旁腺功能亢进症（FIHP）病例。关于整个基因缺失的报道极为罕见。我们报告了一例39岁女性，其PH继发于甲状旁腺腺瘤，伴有一个大的染色体缺失（2.5 Mb），该缺失包含整个基因，在甲状旁腺切除术后数年才被检测到。该病例强调了对年轻甲状旁腺功能亢进患者筛查潜在遗传病因的必要性。它还表明，针对这种疾病的分子检测应包含能够检测大缺失的技术。
对年轻甲状旁腺功能亢进患者进行基因筛查的必要性。筛查大缺失（包括整个基因缺失）的重要性。对携带基因 突变的患者进行监测包括定期检测钙和甲状旁腺激素水平、牙科评估以及子宫和肾脏肿瘤的影像学检查。
