甲状腺功能障碍症瘤综合征,一个意想不到的诊断
Asande Zama1,2, Elsie C Kruger1,2, Annalise E Zemlin1,2
1Division of Chemical Pathology, National Health Laboratory Service, Tygerberg Hospital, Cape Town 7505, South Africa.
JCEM case reports
|March 5, 2024
概括
一种罕见的遗传病 - - 初级甲状腺功能增强症下瘤综合征 - - 在一名年轻女性身上引起了严重的骨和脏问题. 基因检测发现了CDC73变种,突出了早期诊断的重要性.
科学领域:
- 内分泌学 在内分泌学.
- 遗传学 是一个遗传学.
- 腎臟病學 (nephrology) 是一種醫學專業.
背景情况:
- 初级甲状腺功能障碍症 (PHPT) 在发展中国家经常被诊断为晚期,导致严重的并发症.
- 迟迟诊断PHPT可能导致显著的骨和脏发病率.
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