17-ALPHA-HYDROXYLASE DEFICIENCY WITH PERSISTENCE OF MULLERIAN DUCTS IN A GENOTYPIC MALE AND PARADOXICAL ALDOSTERONE SECRETION
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摘要We report a case of congenital adrenal hyperplasia due to 17alpha-hydroxylase deficiency in a Chinese genotypic male patient. Despite the male genotype, normal female external genitalia were present and with the introduction of cyclical oestrogen therapy withdrawal bleeding occurred, confirming the presence of functional endometrial tissue. We believe this to be the first report of persistent Mullerian duct structures in a genotypic male with 17alpha-hydroxylase deficiency. It could be explained by either impaired secretion or impaired action of anti-Mullerian hormone. Further, contrary to the usual finding of suppressed aldosterone secretion, this patient had measurable levels of plasma aldosterone.
著者PANESAR NS, YEUNG VTF, CHAN JCN, SHEK CC, NICHOLLS MG, COCKRAM CS
期刊名稱Postgraduate Medical Journal
出版年份1993
月份2
日期1
卷號69
期次808
出版社BRITISH MED JOURNAL PUBL GROUP
頁次159 - 162
國際標準期刊號0032-5473
電子國際標準期刊號1469-0756
語言英式英語
Web of Science 學科類別General & Internal Medicine; Medicine, General & Internal; MEDICINE, GENERAL & INTERNAL

上次更新時間 2020-23-10 於 01:56