Open AccessCongenital adrenal hyperplasia - experience from a tertiary centre in South India
Author(s) -
Belinda George,
D M Vinay,
J Moolechery,
Vivek Mathew,
Rajaram Anantharaman,
Vageesh Ayyar,
Ganapathy Bantwal
Publication year - 2012
Publication title -
indian journal of endocrinology and metabolism
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.456
H-Index - 28
eISSN - 2230-9500
pISSN - 2230-8210
DOI - 10.4103/2230-8210.104102
Subject(s) - congenital adrenal hyperplasia , 21 hydroxylase , medicine , short stature , pediatrics , enzyme deficiency , endocrinology , physiology , enzyme , biology , biochemistry
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.