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.
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