[Congenital adrenal hyperplasia report of a case]

ABSTRACT

Congenital adrenal hyperplasia [CAH] is an autosomal recessive disorder with an incidence of 1/15000, which is sometimes called the adrenogenital syndrome. This disorder which occurs during fetal development is a consequence of inborn errors in cortisol biosynthesis. Compensatory overproduction of ACTH by the fetus to overcome cortisol deficiency produces hyperplastic but inefficient adrenal cortices. More than 90% of cases result from mutations of CYP21 gene, leading to 21- hydroxyllase deficiency, which is essential not only for cortisol biosynthesis but also for aldosterone formation. Deficient or excessive mineralocorticoid production is the other major clinical problem associated with CAH syndrome. The distinctive clinical features of the CAH syndrome result from inappropriate production of both sex steroids and mineralocorticoids. In its classical form, CAH is severe and consists of the virilizing [increase of androgens] and salt wasting [lack of aldosteron] phenotype. When a probond exists, early prenatal diagnosis for CAH can be performed by direct molecular analysis in the first trimester. In recently reported case, the patient is a 10 year old young boy whose parent's chief complaint were unerupted maxillary right central incisor. After taking a complete history the patient was diagnosed with CAH. His 18 year old sister was affected too. Up to now, there has been no report regarding the oral and dental status of these patients in the literature. It is probable that delayed eruption and root formation of some teeth can be related to either this congenital disorder or drug consumption