A neglected case of treatable genetic disorder
Journal Title: Indian Journal of Pharmaceutical and Biological Research - Year 2016, Vol 4, Issue 4
Abstract
Congenital adrenal hyperplasia(CAH) is a autosomal recessive genetic disorder involving adrenal hormones resulting in excessive production of androgens and hence their effects. Here we report a case of CAH which was diagnosed very late but was treated successfully. 12 years old female child came to us with ambiguous genitalia. Examination showed praders stage 4 external genitalia. Evaluated further and confirmed as a case of classic type of simple virilising congenital adrenal hyperplasia due to 21 hydroxylase deficiency. She was successfully treated with steroids and surgical correction was also done. Now child has also attained menarche and on follow up at our pediatric out patient department.
Authors and Affiliations
C. Rekha| Assistant professor, Department of paediatrics, ACS medical college and hospital, Tamil Nadu, India, R. Paramaguru| Assistant civil surgeon, Department of paediatrics, Thiruvallor government hospital, Chennai, India, Vimala sarojini| Professor, Department of paediatrics, ACS medical college and hospital, Tamil Nadu, India, Dinisha Einstien| Assistant professor, Department of pathology, ACS medical college and hospital, Tamil Nadu, India, A. Prathiba| Assistant professor, Department of pathology, ACS medical college and hospital, Tamil Nadu, India
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