Two Cases of Ambigious Genitalia

The term “Ambiguous genitalia†applies to confusing appearance of the external genitalia. Sex assignment becomesessential for the parent’s peace of mind, and in turn depends on anatomy and functional endocrinology rather than karyotype. 1Two cases with all different genetic sex, gonadal sex an...

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Bibliographic Details
Main Authors: Samina Tariq, iqbal A Memon, Ainey Razzak, Asma Aijaz
Format: Article
Language:English
Published: Dow University of Health Sciences 2010-08-01
Series:Journal of the Dow University of Health Sciences
Online Access:https://www.jduhs.com/index.php/jduhs/article/view/1323
Description
Summary:The term “Ambiguous genitalia†applies to confusing appearance of the external genitalia. Sex assignment becomesessential for the parent’s peace of mind, and in turn depends on anatomy and functional endocrinology rather than karyotype. 1Two cases with all different genetic sex, gonadal sex and phenotypic sex are described. First case is that of congenital adrenal hyperplasia (CAH) in a month old baby whose genotype was female withlaboratory investigations exposing her diagnosis. She is doing well with oral hydrocortisone and fludrocortisone. Secondcase is th a t o f pro b ab le 5-alpha red u c tase d eficien cy who would pro b ab ly need future surgery.
ISSN:1995-2198
2410-2180