Congenital Adrenal Hyperplasia

This test identifies mutations in the 21-hydroxylase gene known to cause congenital adrenal hyperplasia (CAH). It is used to: 1) confirm or establish a diagnosis of CAH due to 21-OH deficiency; 2) identify genetic carriers of CAH; 3) evaluate the status of persons at risk to be affected by or carriers of CAH due to family history. Congenital adrenal hyperplasia (CAH), with an incidence rate of 1 in 10,000 to 18,000 live births, is one of the most common inherited syndromes. The condition is characterized by impaired cortisol production due to inherited defects in steroid biosynthesis. The clinical consequences of CAH, besides diminished cortisol production, depend on which enzyme is affected and whether the loss of function is partial or complete. CAH cases, the affected enzyme is 21-steroid hydroxylase, encoded by the CYP21A2 gene located on chromosome 6 within the highly recombinant human histocompatibility complex locus. 21-hydroxylase deficient CAH is inherited in an autosomal recessive pattern and has a spectrum of clinical phenotypes depending upon residual enzyme activity. Excessive adrenal androgen biosynthesis results in varying degrees of virilization. If there is some residual enzyme activity, a non-classical phenotype results, with signs of hyperandrogenism typically starting in later childhood or adolescence. Individuals with severe enzyme deficiency have classical CAH, with prenatal onset of virilization. Classical CAH which is subdivided into simple-virilizing (minimal residual enzyme activity) and salt-wasting (no residual enzyme activity) forms. Patients with salt-wasting CAH have both cortisol and mineral corticosteroid deficiency and are at risk for life-threatening salt-wasting crises if untreated.