Congenital adrenal hyperplasia - experience from a tertiary centre in South India
Autor: | George Belinda, D Vinay, J Moolechery, V Mathew, R Anantharaman, V Ayyar, G Bantwal |
---|---|
Jazyk: | angličtina |
Rok vydání: | 2012 |
Předmět: | |
Zdroj: | Indian Journal of Endocrinology and Metabolism, Vol 16, Iss 8, Pp 385-386 (2012) |
Druh dokumentu: | article |
ISSN: | 2230-8210 2230-9500 |
DOI: | 10.4103/2230-8210.104102 |
Popis: | 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-wastinfg 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 3 rd to 6 th week of life. Around 20% of females were identified and appropriately treated only after late adolescence. Short stature was seen in 1/3 rd of patients. 1/3 rd of patients had suppressed 17 OHP levels suggestive of over-replacement therapy which may contribute to final reduction in adult height. |
Databáze: | Directory of Open Access Journals |
Externí odkaz: |