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Classic congenital adrenal hyperplasia: A delayed presentation
Author(s) -
Saima Siddiqui,
Nargis Soomro,
Ashraf Ganatra
Publication year - 2012
Publication title -
pakistan journal of medical sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.316
H-Index - 30
eISSN - 1682-024X
pISSN - 1681-715X
DOI - 10.12669/pjms.291.2830
Subject(s) - virilization , congenital adrenal hyperplasia , medicine , androgen excess , mineralocorticoid , androgen , presentation (obstetrics) , glucocorticoid , pediatrics , hyperplasia , endocrinology , hormone , surgery , insulin resistance , polycystic ovary , insulin
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.

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