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先天性肾上腺皮质增生症11β-羟化酶缺乏症:两例双侧肾上腺切除术治疗病例

Congenital adrenal hyperplasia 11beta-hydroxylase deficiency: two cases managed with bilateral adrenalectomy.

作者信息

John M, Menon S K, Shah N S, Menon P S

机构信息

Department of Endocrinology, Seth Gordhandas Sunderdas Medical College & King Edward Memorial Hospital, Parel, Mumbai 400012, India.

出版信息

Singapore Med J. 2009 Feb;50(2):e68-70.

Abstract

This series describes two patients with congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency. The first patient, a ten-year-old with XX genotype, reared as a male, presented with resistant hypokalaemia and hypertension. The second patient, a 23-year-old with XY genotype, presented with bilateral adrenal masses and resistant hypertension. Both the patients were offered bilateral adrenalectomy. These two patients are described with a discussion on the role of bilateral adrenalectomy in the management of difficult cases of congenital adrenal hyperplasia. The association of myelolipoma and testicular rests with this condition is also discussed.

摘要

本系列描述了两名因11β-羟化酶缺乏导致先天性肾上腺皮质增生的患者。第一名患者为10岁XX基因型,自幼被当作男性抚养,表现为顽固性低钾血症和高血压。第二名患者为23岁XY基因型,表现为双侧肾上腺肿块和顽固性高血压。两名患者均接受了双侧肾上腺切除术。本文描述了这两名患者,并讨论了双侧肾上腺切除术在先天性肾上腺皮质增生疑难病例管理中的作用。还讨论了髓样脂肪瘤和睾丸残余与这种疾病的关联。

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