title: Congenital adrenal hyperplasia - experience from a tertiary centre in South India.
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-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.
authors.affiliation: Department of Endocrinology, St. Johns Medical College Hospital, Bangalore, India.
authors.forename: George
authors.initials: G
authors.lastname: Belinda
authors.forename: D
authors.initials: D
authors.lastname: Vinay
authors.forename: J
authors.initials: J
authors.lastname: Moolechery
authors.forename: V
authors.initials: V
authors.lastname: Mathew
authors.forename: R
authors.initials: R
authors.lastname: Anantharaman
authors.forename: V
authors.initials: V
authors.lastname: Ayyar
authors.forename: G
authors.initials: G
authors.lastname: Bantwal
keywords: 21 hydroxylase deficiency; CAH; adrenal crisis; genital ambiguity
references.citation: Best Pract Res Clin Endocrinol Metab. 2009 Apr;23(2):193-208
references.pmid: 19500763
references.citation: J Clin Endocrinol Metab. 2010 Sep;95(9):4133-60
references.pmid: 20823466
references.citation: J Clin Endocrinol Metab. 2010 Sep;95(9):4161-72
references.pmid: 20823467