17 alpha-Hydroxylase deficiency with persistence of müllerian ducts in a genotypic male and paradoxical aldosterone secretion. Issue 808 (February 1993)

• Record Type: Journal Article
• Authors: Panesar, N. S.; Yeung, V. T.; Chan, J. C.; Shek, C. C.; Nicholls, M. G.; Cockram, C. S.
• Is Part Of: Postgraduate medical journal. Volume 69:Issue 808(1993)
• Page Start: 159
• Page End: 162
• Publication Date: 1993-02
• Subjects: Medicine -- Periodicals; 610
• DOI: 10.1136/pgmj.69.808.159
• Languages: English
• ISSNs: 0032-5473

Abstract

Abstract : We report a case of congenital adrenal hyperplasia due to 17 alpha-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 17 alpha-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.