Treatment is oral biotin supplementation. CAH causes increased androgen production, resulting in ambiguous genitalia and virilization in girls and early virilization in boys. Other symptoms are accelerated skeletal maturation and ultimate short stature. Treatment is glucocorticosteroids. Symptoms are lifelong hemolytic anemia, abnormally shaped blood cells leading to acute and chronic tissue damage, intermittent cardiac crises, enlarged spleen, and sepsis.
Ongoing therapy is penicillin prophylaxis and vigilant treatment of infections.
Aggressive pain management, management of dehydration and acidosis, blood transfusions, and oxygen are all utilized for acute episodes. Cystic fibrosis . An inherited disorder that affects the mucus-producing glands. Mucus is thick, and can obstruct air passages in the lungs. It also causes dysfunction of the sweat and salivary glands, and blocks the enzymes secreted by the pancreatic duct, resulting in incomplete digestion.