Defective production of adrenal
steroids due to either primary adrenal failure or hypothalamic-pituitary impairment of the corticotrophic axis causes
adrenal insufficiency. Depending on the etiologies of
adrenal insufficiency, clinical manifestations may be severe or mild, have gradual or sudden onset, begin in infancy or childhood/adolescence. Adrenal crisis represents an endocrine emergency, and thus the rapid recognition and prompt
therapy for adrenal crisis are critical for survival even before the diagnosis is made. The recognition of various disorders that cause
adrenal insufficiency, either at a clinical or molecular level, often has implications for the management of the patient. Recent molecular-genetic analysis for the disorder that causes
adrenal insufficiency gives valuable insights into the adrenal organogenesis, the regulation of
steroid hormone biosynthesis, and the developmental and reproductive endocrinology. In this review we present the latest information on the molecular basis of
adrenal insufficiency, with special emphasis on congenital lipoid adrenal
hyperplasia, P450-oxidoreductase deficiency, and adrenal hypoplasia congenita.