Pheochromocytoma and primary hyperparathyroidism: a very rare association in a neurofibromatosis type 1 patient unmasked by Takotsubo syndrome [0.03%]
神经纤维瘤病1型患者并发特拉佐普洛综合征后解谜的原发性嗜铬细胞瘤和原发性甲状旁腺功能亢进症极为罕见的关联症状
Nuno Faria,Valentim Lopes,Tamara Pereira et al.
Nuno Faria et al.
Summary: Neurofibromatosis type 1 is an autosomal dominant disease characterized by cutaneous, bone, and neurocognitive manifestations and an increased risk of neoplasms - more frequently cutaneous neurofibromas and optic...
Use of PRRT and osilodrostat for ectopic Cushing syndrome secondary to thymic neuroendocrine neoplasm [0.03%]
用于治疗由胸腺神经内分泌肿瘤引起的异位库欣综合征的PRLT和Osilodrostat的应用
Monica Majumder,Stephen Clarke,Elizabeth Bernard et al.
Monica Majumder et al.
Summary: We present a case of recurrent thymic neuroendocrine neoplasm (NEN) in a 43-year-old male, who developed ectopic Cushing syndrome (CS), 8 years after his initial diagnosis. Due to persistent biochemical hypercort...
Non-functioning adrenocortical carcinoma presenting as acute spontaneous retroperitoneal haemorrhage [0.03%]
非功能性肾上腺皮质癌并发急性自发性后腹膜出血
Christopher Chan,Renee C F Chan,Mawson Wang
Christopher Chan
Summary: Adrenocortical carcinomas (ACCs) are a very rare entity with an incidence of approximately 0.5-2 cases per million per year. They are often difficult to diagnose clinically, attributing to non-specific signs and ...
Familial isolated 17,20-lyase deficiency in three siblings caused by a CYP17A1 mutation [0.03%]
CYP17A1突变导致的三例家族性孤立性17，20-裂解酶缺乏症病例
Maryam Haider,Bushra Rehman,Muhammad Nasheet Sagri et al.
Maryam Haider et al.
Summary: 17α-hydroxylase/17,20-lyase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia, inherited in an autosomal recessive manner. The CYP17A1 gene on chromosome 10 encodes cytochrome P450c17, a single...
Discordant sestamibi uptake in synchronous parathyroid carcinoma and adenoma [0.03%]
同侧异时发生的甲状旁腺癌和腺瘤摄取sestamibi不一致
Qian Wang,Xiang Zhou,Ruigang Lu et al.
Qian Wang et al.
Summary: The simultaneous occurrence of parathyroid carcinoma, parathyroid adenoma, and papillary thyroid carcinoma is exceptionally rare. Herein, we present an uncommon case in which the right malignant parathyroid lesio...
Cardiac arrest as the initial presentation of thyrotoxicosis in a young woman [0.03%]
甲状腺功能亢进年轻女性患者以心脏停搏为首发症状
Maria Helena Siqueira Tavares de Melo,Maxim John Levy Barnett,Maria L M Rego et al.
Maria Helena Siqueira Tavares de Melo et al.
Summary: Thyroid storm is a life-threatening endocrine emergency characterized by severe thyrotoxicosis and multisystem decompensation. Cardiovascular involvement is common and the leading cause of mortality, most commonl...
TRPV6-related intrauterine calciopenic rickets: a case report and literature review [0.03%]
与TRPV6有关的宫内乏钙性佝偻病：病例报告和文献回顾
Geoffrey Chek-Fei Yu,Queenie Wing-Shan See,Mimi Tin-Yan Seto
Geoffrey Chek-Fei Yu
Summary: We report a female Chinese neonate with antenatal rickets and secondary hyperparathyroidism who was found to have novel compound heterozygous TRPV6 variants (c.1160G>A and c.658C>T). She was treated with calcium,...
Drug cross-reactivity between methimazole and propylthiouracil causing recurrent pancreatitis in thyroid storm [0.03%]
甲巯咪唑和丙硫氧嘧啶交叉反应导致甲状腺危象复发性胰腺炎
Yuriko Yamazaki,Junichiro Adachi,Yurika Ishihara et al.
Yuriko Yamazaki et al.
Summary: Drug-induced pancreatitis represents 1.1% of acute pancreatitis cases. To date, eight cases of antithyroid drug (ATD)-induced pancreatitis have been reported, including seven associated with methimazole (MMI) and...
A silent aggressor: disseminated histoplasmosis with laryngeal and adrenal involvement in a diabetic patient [0.03%]
沉默的侵犯者：糖尿病患者弥漫性组织胞浆菌病伴喉部和肾上腺受累
Ayushi Singhal,Subhash B Yadav,Dharmendra Singh Bhadauria et al.
Ayushi Singhal et al.
Summary: A 65-year-old male with poorly controlled type 2 diabetes mellitus presented with 7 months of progressive hoarseness of voice, fever, anorexia, cough, and weight loss. Just before admission, he developed drowsine...
The power of lifestyle intervention to induce glycaemic control in a patient with newly diagnosed type 2 diabetes and HbA1c >10 [0.03%]
新诊断的HBA1C>10的2型糖尿病患者的血糖控制生活方式干预效力
Antonio Ferreira,Thomas Züger,Marc Y Donath et al.
Antonio Ferreira et al.
Summary: We report a case of a 48-year-old man newly diagnosed with type 2 diabetes mellitus (T2DM), presenting with a critically elevated HbA1c of 10.3%, who achieved near-normal glycaemic control (HbA1c 6.0%) through a ...