Congenital Adrenal Hyperplasia - 21-Hydroxylase Deficiency - Signs and Symptoms • Brain: Androgenization effects, Glucocorticoid effects, Decreased quality of life, Increased anxiety and depression • Hypothalamic–Pituitary: Early puberty, Secondary gonadal failure • Skin: Hyperpigmentation, Hyperextensibility (CAH-X), Male-pattern hair growth (46,XX), Striae, thinning, bruising • Cardiovascular: Abnormal cardiac structure (CAH-X), Increased blood pressure • Glucose Metabolism: Insulin resistance • Adrenal: Nodular hyperplasia and tumors, Decreased cortisol, aldosterone, and epinephrine and increased androgen • Adipose tissue: Increased fat mass • Reproductive: Gonadal hypofunction and subfertility, Adrenal rest tumor formation, Genital atypia (46,XX) • Bone: Accelerated childhood growth, early epiphyseal fusion, Decreased bone density, Adult short stature • Musculoskeletal: Joint hypermobility (CAH-X), Hernias (CAH-X), Myopathy (CAH-X), Masculine habitus (46,XX) 10.1056/NEJMra1909786 #CAH #Congenital #Adrenal #Hyperplasia #Hydroxylase #Deficiency #Signs #Symptoms #diagnosis #endocrinology
