Classic congenital adrenal hyperplasia: A delayed presentation

Congenital adrenal hyperplasia (CAH) is a rare congenital disorder, which in cases of female genotype may result in virilization. Specific enzyme deficiencies in adrenocorticoid hormones biosynthetic pathway lead to excess androgen production causing virilization. Classic type presents early in infa...

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Bibliographic Details
Published in:Pakistan journal of medical sciences 2013-01, Vol.29 (1), p.220-223
Main Authors: Aziz Siddiqui, Saima, Soomro, Nargis, Ganatra, Ashraf
Format: Article
Language:English
Subjects:
Adrenogenital syndrome
Case Report
Corticosteroids
Enzymes
Genetic disorders
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Summary:Congenital adrenal hyperplasia (CAH) is a rare congenital disorder, which in cases of female genotype may result in virilization. Specific enzyme deficiencies in adrenocorticoid hormones biosynthetic pathway lead to excess androgen production causing virilization. Classic type presents early in infant life as salt losing or simple virilizing type, whereas non classic form presents late at puberty or in adult life. Depending on the type of classic CAH, type of adrenocorticoid deficiency, extent of virilization & genotype, surgical corrective procedures, glucocorticoid & mineralocorticoid replacement therapy are the mainstay of management. We present here a case of classic congenital adrenal hyperplasia of simple virilizing type, which presented later in childhood.
ISSN:1682-024X
1681-715X
DOI:10.12669/pjms.291.2830