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迟发型先天性肾上腺皮质增生症伴库欣综合征

Late-onset congenital adrenal hyperplasia with Cushing syndrome.

作者信息

Erdogan Gurbuz, Pabuccu Recai, Ertek Sibel, Israel Shoshana, Yilmaz Banu, Yilmaz Hilal, Caglar Gamze

机构信息

Department of Endocrinology and Metabolic Diseases, Ufuk University Medical Faculty, Turkey.

出版信息

Intern Med. 2014;53(17):1955-9. doi: 10.2169/internalmedicine.53.0654. Epub 2014 Sep 1.

Abstract

Although hirsutism is classically part of the clinical presentation of polycystic ovarian syndrome (PCOS), congenital adrenal hyperplasia and Cushing's syndrome (CS), CS associated with underlying late-onset congenital adrenal hyperplasia (LCAH) in an adult has not been previously reported. We herein present the case of a 25-year-old woman who was followed for PCOS for seven years. After undergoing detailed tests described within the text, she received the diagnosis of LCAH and was found to have point mutations. Interestingly, she later had diagnosis of endogenous CS that regressed folowing excision of an adrenal adenoma found on MRI. The present patient thus exhibited the coexistence of two paradoxical endocrine pathologies.

摘要

虽然多毛症是多囊卵巢综合征(PCOS)、先天性肾上腺皮质增生症和库欣综合征(CS)典型临床表现的一部分,但此前尚未有成人潜在迟发性先天性肾上腺皮质增生症(LCAH)相关CS的报道。我们在此报告一例25岁女性,她因PCOS接受了7年的随访。在接受本文所述的详细检查后,她被诊断为LCAH并发现存在点突变。有趣的是,她后来被诊断为内源性CS,在MRI检查发现肾上腺腺瘤切除后病情缓解。因此,该患者表现出两种矛盾的内分泌疾病共存。

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