Congenital adrenal hyperplasia - experience from a tertiary centre in South India

• Published in: Indian journal of endocrinology and metabolism Vol. 16; no. Suppl 2; pp. S385 - S386
• Main Authors: Belinda, George, Vinay, D, Moolechery, J, Mathew, V, Anantharaman, R, Ayyar, V, Bantwal, G
• Format: Journal Article
• Language: English
• Published: India Medknow Publications and Media Pvt. Ltd 01.12.2012; Medknow Publications & Media Pvt Ltd; Wolters Kluwer Medknow Publications
• Subjects: 21 hydroxylase deficiency; adrenal crisis; Adrenogenital syndrome; Brief Communication; CAH; Care and treatment; Diagnosis; genital ambiguity; Patient outcomes; Risk factors; India; adrenal crisis; 21 hydroxylase deficiency; CAH; genital ambiguity
• ISSN: 2230-8210; 2230-9500
• DOI: 10.4103/2230-8210.104102

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.