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

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

doi:10.4038/sjdem.v9i2.7398

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]
The clinical presentation depends on severity of mutation and this vary from neonatal salt wasting, virilisation to non-classic CAH in adulthood
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

Introduction

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]. Patient RA 23 years old man was transferred from a local hospital with the history of abdominal pain, haematuria and high blood pressure He was the third child of nonconsanguineous parents from a very low socio economic background. Surgical removal of the uterus, ovaries, upper third of the vagina and fallopian tubes and bilateral mastectomy was planned and the possibility of staged male genitoplasty comprising of chordee correction, male urethroplasty and insertion of artificial testicular prosthesis in the labioscrotal sac was discussed with the patient. He was advised on the need for long term therapy with steroid and steroid alert card was given. Test Total testosterone (ng/ml) 17 OHP – basal 17 OHP, 60 min post synacthen (nmol/L) DHEA-sulphate (μg/ml)

Discussion

Conclusion