1. Congenital adrenal hyperplasia - experience from a tertiary centre in South India.
- Author
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Belinda, George, Vinay, D., Moolechery, J., Mathew, V., Anantharaman, R., Ayyar, V., and Bantwal, G.
- Subjects
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ADRENOGENITAL syndrome , *ADRENAL diseases , *SHORT stature , *HYDROXYLASES , *BIOSYNTHESIS - Abstract
Congenital adrenal hyperplasia is a group of autosomal recessive disorders caused by enzyme deficiency which leads to defects in biosynthesis of steroid precursors. Most common is 21 hydroxylase deficiency. Clinical spectrum varies from non-classical CAH to classic CAH, and it may be simple virilising form or salt-wasting type. 29 patients were included in our study from January 2012 to October 2012. 76% were females. Male babies typically presented with adrenal crisis between 3rd to 6th week of life. Around 20% of females were identified and appropriately treated only after late adolescence. Short stature was seen in 1/3rd of patients. 1/3rd of patients had suppressed 17 OHP levels suggestive of over-replacement therapy which may contribute to final reduction in adult height. [ABSTRACT FROM AUTHOR]
- Published
- 2012
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