Rare association of insulin autoimmune syndrome with ankylosing spondylitis [0.03%]
罕见的自身免疫性胰岛素综合征与强直性脊柱炎相关联
Nishant Raizada,S H Rahaman,D Kandasamy et al.
Nishant Raizada et al.
Insulin autoimmune syndrome (IAS) is a rare cause of hyperinsulinemic hypoglycaemia, which is known to occur in association with the use of sulfhydryl-containing drugs and autoimmune disorders. We describe a patient with hitherto an unrepor...
Giant myelolipomas and inadvertent bilateral adrenalectomy in classic congenital adrenal hyperplasia [0.03%]
经典先天性肾上腺增生患者的巨大型骨髓脂肪瘤和意外双侧肾上腺切除术
Geetanjali Kale,Elaine M Pelley,Dawn Belt Davis
Geetanjali Kale
Myelolipomas have been reported in patients with congenital adrenal hyperplasia (CAH). ACTH excess, as seen with non-adherence to glucocorticoid therapy, may be responsible for tumor development. We report a case of a 51-year-old man with c...
Resistant hypertension with adrenal nodule: are we removing the right gland? [0.03%]
肾上腺瘤合并难治性高血压：手术切除的真是病灶侧吗？
Gautam Das,Peter N Taylor,Arshiya Tabasum et al.
Gautam Das et al.
Resistant hypertension is often difficult to treat and may be associated with underlying primary aldosteronism (PA). We describe the case of an elderly gentleman who presented with severe and resistant hypertension and was found to have a l...
Persistent syndrome of inappropriate antidiuretic hormone secretion following traumatic brain injury [0.03%]
创伤性脑损伤后的持续不适当抗利尿激素分泌综合征
Michael Dick,Sarah R Catford,Kavita Kumareswaran et al.
Michael Dick et al.
The syndrome of inappropriate antidiuretic hormone secretion (SIADH) can occur following traumatic brain injury (TBI), but is usually transient. There are very few case reports describing chronic SIADH and all resolved within 12 months, exc...
A Greek girl with 11β-hydroxylase deficiency due to compound heterozygosity for two novel mutations in CYP11B1 gene [0.03%]
CYP11B1基因两个新突变的复合杂合子导致的11β-羟化酶缺乏症患者报告：一例希腊女孩
Chrisanthi Marakaki,Anna Papadopoulou,Olga Karapanou et al.
Chrisanthi Marakaki et al.
11β-hydroxylase deficiency (11β-OHD), an autosomal recessive inherited disorder, accounts for 5-8% of congenital adrenal hyperplasia. In Greece, no cases of 11β-OHD have been described so far. The patient presented at the age of 13 month...
Cushing's storm secondary to a rare case of ectopic ACTH secreting metastatic breast cancer [0.03%]
由罕见的异位ACTH分泌性转移性乳腺癌引起的库欣病风暴
Maura Bucciarelli,Ya-Yu Lee,Vasudev Magaji
Maura Bucciarelli
Ectopic ACTH secretion from breast cancer is extremely rare. We report a case of a 30-year-old woman with a history of breast cancer, who presented with psychosis and paranoid behaviour. CT of the head showed white matter disease consistent...
Iatrogenic myxoedema madness following radioactive iodine ablation for Graves' disease, with a concurrent diagnosis of primary hyperaldosteronism [0.03%]
放射性碘治疗Graves病后继发黏液水肿精神病合并原发性醛固酮增多症的诊断
V Larouche,L Snell,D V Morris
V Larouche
Myxoedema madness was first described as a consequence of severe hypothyroidism in 1949. Most cases were secondary to long-standing untreated primary hypothyroidism. We present the first reported case of iatrogenic myxoedema madness followi...
Pedro Marques,Kavinga Gunawardana,Ashley Grossman
Pedro Marques
Gestational diabetes insipidus (DI) is a rare complication of pregnancy, usually developing in the third trimester and remitting spontaneously 4-6 weeks post-partum. It is mainly caused by excessive vasopressinase activity, an enzyme expres...
A patient with novel mutations causing MEN1 and hereditary multiple osteochondroma [0.03%]
MEN1和遗传性多发性软骨外生瘤的新突变患者的临床特征及基因型分析
Hanna Remde,Elke Kaminsky,Mathias Werner et al.
Hanna Remde et al.
We report of a male patient aged 32 years who presented with primary hyperparathyroidism. Three parathyroid glands were resected. At the age of 46 years, nervus facialis irritation was noted, and an MRI scan incidentally revealed a non-func...
Fluconazole and acetazolamide in the treatment of ectopic Cushing's syndrome with severe metabolic alkalosis [0.03%]
氟康唑和乙酰唑胺治疗重度代谢性碱中毒异位库欣综合征患者
Verena Schwetz,Felix Aberer,Claudia Stiegler et al.
Verena Schwetz et al.
Cushing's syndrome (CS) due to ectopic ACTH production accounts for about 10% of all types of CS and is frequently associated with metabolic alkalosis. Treatment of CS involves surgical resection and/or medical therapy to control hypercorti...