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  • congenital adrenal hyp
  • Lipoid congenital adrenal hyperplasia is an endocrine disorder that is an uncommon and potentially lethal form of congenital adrenal hyperplasia (CAH). (wikipedia.org)
  • All of the issues related to virilization, neonatal assignment, advantages and disadvantages of genital surgery, childhood and adult virilization, gender identity and sexual orientation are similar to those of 21-hydroxylase CAH and elaborated in more detail in Congenital adrenal hyperplasia. (wikipedia.org)
  • cortex
  • Fludrocortisone is the drug of choice (DOC) for mineralocorticoid replacement therapy if the zona glomerulosa of the adrenal cortex does not produce aldosterone. (medscape.com)
  • ACTH stimulates growth of the adrenal cells and increases LDL receptors to amplify transport of cholesterol into the cells of the adrenal cortex which make adrenal steroids, where it accumulates since little can enter the mitochondria for conversion to steroid. (wikipedia.org)
  • citation needed] Because 11β-hydroxylase activity is not necessary in the production of sex steroids (androgens and estrogens), the hyperplastic adrenal cortex produces excessive amounts of DHEA, androstenedione, and especially testosterone. (wikipedia.org)
  • The enzyme which mediates 11β-hydroxylase activity is now known as P450c11β since it is one of the cytochrome P450 oxidase enzymes located in the inner mitochondrial membrane of cells of the adrenal cortex. (wikipedia.org)
  • ACTH
  • Normally, adrenal steroids then signal their presence to the brain to moderate ACTH levels (feedback inhibition). (wikipedia.org)
  • Progressive adrenal hyperplasia due to persistent elevation of ACTH results in extreme overproduction of 11-deoxycorticosterone (DOC) by mid-childhood. (wikipedia.org)
  • gland
  • Similar to the adrenal gland, cholesterol accumulation damages the Leydig cells of the testes. (wikipedia.org)
  • Also of note, enlargement of the adrenal gland is not always found in the patient, especially in cases where a mutation in the gene for P450scc is the cause. (wikipedia.org)
  • patients
  • Understanding of the molecular basis for it has been advanced in the last decade by better understanding of adrenal steroidogenesis as well as genetic studies of affected patients. (wikipedia.org)
  • Unlike in models of the disease in mice, patients with lipoid CAH do not always have enlarged adrenals due to lipid accumulation. (wikipedia.org)
  • steroidogenesis
  • Lashansky G, Saenger P, Fishman K, Gautier T, Mayes D, Berg G. Normative data for adrenal steroidogenesis in a healthy pediatric population: age- and sex-related changes after adrenocorticotropin stimulation. (medscape.com)
  • hyperplasia
  • All other cases of lipoid adrenal hyperplasia that have been studied have been found to be due to mutations of the gene for the primary protein that transports cholesterol into the mitochondria, StAR, encoded by a gene on chromosome 8p11.2 in the human. (wikipedia.org)