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

Autor: D. Karuppiah, P. Pathirana, S. Dilakkumar, A. S. Pallewatte, M. Pravinson, M. Mithusha
Jazyk: angličtina
Rok vydání: 2019
Předmět:
Zdroj: Sri Lanka Journal of Diabetes Endocrinology and Metabolism, Vol 9, Iss 2, Pp 44-48 (2019)
Druh dokumentu: article
ISSN: 2012-998X
DOI: 10.4038/sjdem.v9i2.7398
Popis: 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.
Databáze: Directory of Open Access Journals