Congenital Adrenal Hyperplasia - 21-Hydroxylase Deficiency ...
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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
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