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

Authors:

D. Karuppiah ,

Teaching Hospital Batticaloa, LK
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P. Pathirana,

Teaching Hospital Batticaloa, LK
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S. Dilakkumar,

Teaching Hospital Batticaloa, LK
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A. S. Pallewatte,

National Hospital Sri Lanka, LK
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M. Pravinson,

Teaching Hospital Batticaloa, LK
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M. Mithusha

Teaching Hospital Batticaloa, LK
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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.
How to Cite: Karuppiah, D., Pathirana, P., Dilakkumar, S., Pallewatte, A.S., Pravinson, M. and Mithusha, M., 2019. Recurrent haematuria; a rare presentation of 46XX Congenital adrenal hyperplasia presenting late and reared as males – two cases. Sri Lanka Journal of Diabetes Endocrinology and Metabolism, 9(2), pp.44–48. DOI: http://doi.org/10.4038/sjdem.v9i2.7398
Published on 12 Dec 2019.
Peer Reviewed

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