A neglected case of treatable genetic disorder

C. Rekha, R. Paramaguru, Vimala sarojini, Dinisha Einstien, A. Prathiba

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.

Keywords


Congenital adrenal hyperplasia, 17 Hydroxyprogesterone, ambiguous genitalia.

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DOI: https://doi.org/10.30750/ijpbr.4.4.1

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