TY - CHAP M1 - Book, Section TI - Congenital Adrenal Hyperplasia A1 - Quintos, Jose Bernardo A1 - Boney, Charlotte M. A2 - Stevenson, David K. A2 - Cohen, Ronald S. A2 - Sunshine, Philip PY - 2015 T2 - Neonatology: Clinical Practice and Procedures AB - Congenital adrenal hyperplasia (CAH) is a family of inherited, autosomal recessive disorders of adrenal steroidogenesis due to an abnormality in a step necessary for conversion of cholesterol to cortisol in the adrenal cortex (Figure 46-1). Of all CAH cases, 95% are caused by 21-hydroxylase deficiency. There are 2 forms of 21-hydroxylase deficiency: classic and nonclassic CAH (also called late-onset CAH). Classic CAH comprises the salt-wasting form (cortisol deficiency and aldosterone deficiency) and simple virilizing form. The salt-wasting form comprises 75% and simple virilizing form 25% of patients with 21-hydroxylase deficiency. The classic form is associated with severe enzyme deficiency, leading to prenatal virilization in girls; the nonclassic form has mild enzyme deficiency that causes postnatal hyperandrogenism but no prenatal virilization. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/29 UR - accesspediatrics.mhmedical.com/content.aspx?aid=1109795473 ER -