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Recurrent haematuria; a rare presentation of 46XX Congenital adrenal hyperplasia presenting late and reared as males – two cases
- Source :
- Sri Lanka Journal of Diabetes Endocrinology and Metabolism, Vol 9, Iss 2, Pp 44-48 (2019)
- Publication Year :
- 2019
- Publisher :
- Sri Lanka College of Endocrinologists, 2019.
-
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.
- Subjects :
- Recurrent haematuria
Pediatrics
medicine.medical_specialty
congenital adrenal hyperplasia, gender assignment, recurrent haematuria, 21-hydroxylase, 11-beta hydroxylase
Aldosterone
biology
business.industry
21-Hydroxylase
medicine.disease
urologic and male genital diseases
RC648-665
female genital diseases and pregnancy complications
Diseases of the endocrine glands. Clinical endocrinology
chemistry.chemical_compound
chemistry
medicine
biology.protein
Congenital adrenal hyperplasia
Presentation (obstetrics)
Steroid 11-beta-hydroxylase
business
Subjects
Details
- Language :
- English
- Volume :
- 9
- Issue :
- 2
- Database :
- OpenAIRE
- Journal :
- Sri Lanka Journal of Diabetes Endocrinology and Metabolism
- Accession number :
- edsair.doi.dedup.....0116ef48bbf825a15507887263c1a61d