Abstract

Causes of congenital adrenal hyperplasis (CAH) include autosomal recessive inheritance, enzyme deficiency, steroid hormone imbalance, salt wasting CAH, non salt wasting CAH, genetic variability, pre natal diagnosis and early intervention. Types of CAH are classic CAH and non classic CAH. Symptoms are related to simple virilizing type, excessive thirst as well as urination, rapid growth I childhood, fatigue, low blood sugar (h ypo glycemia) and salt cravings. Diagnosis is based on clinical evaluation, physical examination, laboratory testing, imaging studies, newborn screening, ACTH stimulation test and ekectrolyte assessment. Differential diagnosis is d ependent on adrenal tumors, poly cystic ovarian syndrome (PCOS), adrenal insufficiency, hypothyroidism, hirsutism, as well as hyper androgenism, late onset CAH, ovarian or testicular tumor, cushings syndrome, congenital hypopituita rism, primary hyper aldosteronism and adrenal hemorrhage or infection. Treatment is related to glucocorticoid replacement therapy that is hydrocortisone, prednisone or dexa methasone, mineralo corticoid replacement therapy that is fludro cortisone, androgen suppresion that is spiranolactonedosage as well as monitoring, salt supplementation, surgical intervention, life style considerations, psychological as well as social support, transition to adulthood, fe rtility considerations and long term follow up. It is finally concluded that cogenital adrenal hyperplasia (CAH) is a rare genetic disorder that impactsthe adrenal glands and can result in a range of physical as well as hor monal challenges. Understanding the causes, symptoms and treatment options is critical for individuals with CAH and their families.

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