Abstract
Congenital adrenal hyperplasia (CAH) is a group of inherited autosomal recessive disorders characterized by a defect in enzymes involved in biosynthesis of cortisol, aldosterone or both. We report two patients presented with recurrent haematuria with two different forms of CAH who presented late and reared as males. We describe the challenges posed on managing them and how the quality of life will be improved by offering hormonal and surgical remedies without changing or reassigning the gender to females.
Highlights
Congenital adrenal hyperplasia (CAH) is a group of inherited autosomal recessive disorders characterized by a defect in enzymes involved in biosynthesis of cortisol, aldosterone or both[1]
Gender assignment become very complex if the genitalia are highly virilised
Some studies showed among 46XX CAH, only a minority developed gender dissatisfaction when reared as females, but there are reports of successful male gender assignments[5,6]
Summary
Recurrent haematuria; a rare presentation of 46XX congenital adrenal hyperplasia presenting late and reared as males – two cases. Karuppiah D1, Pathirana P1, Dilakkumar S1, Pallewatte AS2, Pravinson M1, Mithusha M1 Journal of the Ceylon College of Physicians, 2018, 49, 30-34 Key words: congenital adrenal hyperplasia, gender assignment, recurrent haematuria, 21-hydroxylase, 11-beta hydroxylase
Sign-in/Register to view highlights & summary Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
