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JOURNAL ARTICLE
REVIEW
Molecular basis of adrenal insufficiency.
Pediatric Research 2005 May
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.
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