Description
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