Two Cases of Ambigious Genitalia | [Journal of Dow University of Health Sciences • 2010]

Author(s):

1. S amina Tariq: Department of Pediatrics Unit II, Civil Hospital Karachi and Dow University of Health Sciences, Karachi, Pakistan

2. Iqbal AMemon: Department of Pediatrics Unit II, Civil Hospital Karachi and Dow University of Health Sciences, Karachi, Pakistan

3. Ainey Razzak: Department of Pediatrics Unit II, Civil Hospital Karachi and DowUniversity of Health Sciences, Karachi, Pakistan

4. Asma Aijaz: Department of Pediatrics Unit II, Civil Hospital Karachi and Dow University of Health Sciences, Karachi, Pakistan

5. Abd ul Sattar Shaikh: Department of Pediatrics Unit II, Civil Hospital Karachi and DowUniversity of Health Sciences, Karachi, Pakistan

Abstract:

The term “Ambiguous genitalia” applies to confusing appearance o f the external genitalia. Sex assignment becomes essential for the parent's peace of mind, and in turn depends on anatomy and functional endocrinology rather than karyotype. 1 Two cases with all different genetic sex, gonadal sex and phenotypic sex are described. First case is that o f congenital adrenal hyperplasia (CAH) in a m onth old baby whose genotype was female with laboratory investigations exposing her diagnosis. She is doing well with oral hydrocortisone and fludrocortisone. Second case is th a t o f p ro b a b le 5 -a lp h a re d u c ta s e d e fic ie n c y w ho w o u ld p ro b a b ly n e e d fu tu re surgery.

Page(s): 78-80

DOI: DOI not available

Published: Journal: Journal of Dow University of Health Sciences, Volume: 4, Issue: 2, Year: 2010

Keywords:

congenital adrenal hyperplasia CAH

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