Recurrent haematuria; a rare presentation of 46XX congenital adrenal hyperplasia presenting late and reared as males – two cases

D Karuppiah,A S Pallewatte,M Mithusha,M Pravinson,P Pathirana,S Dilakkumar

doi:10.4038/jccp.v49i1.7844

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

Case report

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

Introduction

Reference value

Discussion

Conclusion