Term
| Type I (familial LPL deficiency, familial hyperchylomicronemia |
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Definition
| (a) deficiency of LPL; (b) production of abnormal LPL; (c) apoC-II deficiency; Slow chylomicron clearance, reduced LDL and HDL levels; treated by low fat/complex carbohydrate diet; no increased risk of coronary artery disease |
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Term
| Type II (Familial hypercholesterolemia, FH) |
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Definition
| LDL receptor defect, Reduced LDL clearance leads to hypercholesterolemia, resulting in athersclerosis and coronary artery disease |
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Term
| Type III (familial dysbetalipoproteinemia, |
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Definition
| this disease is caused by the apoE2 isoform that interacts poorly with the apoE receptor; Causes xanthomas, hypercholesterolemia and athersclerosis in peripheral and coronary arteries due to elevated levels of chylomicrons and VLDLs |
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Term
| Type IV Familial hypertriacylglycerolemia |
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Definition
| Elevated production of VLDL associated with glucose intolerance and hyperinsulinemia; Frequently associated with type-II non-insulin dependent diabetes mellitus, obesity, alcoholism or administration of progestational hormones |
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Term
| Familial hyperalphalipoproteinemia |
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Definition
| Increased level of HDLs A rare condition that is beneficial for health and longevity |
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Term
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Definition
| Absence of LCAT leads to inability of HDLs to take up cholesterol (reverse cholesterol transport) Decreased levels of plasma cholesteryl esters and lysolecithin; abnormal LDLs (Lp-X) and VLDLs; symptoms also found associated with cholestasis |
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Term
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Definition
| Defect in lysosomal cholesteryl ester hydrolase; affects metabolism of LDLs Reduced LDL clearance leads to hypercholesterolemia, resulting in athersclerosis and coronary artery disease |
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Term
| Abeta lipoproteinemia (acanthocytosis, Bassen-Kornzweig syndrome) |
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Definition
| No chylomicrons, VLDLs or LDLs due to defect in apoB expression Rare defect; intestine and liver accumulate, malabsorption of fat, retinitis pigmentosa, ataxic neuropathic disease, have thorny appearance |
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Term
| Familial alpha-lipoprotein deficiency (Tangier disease, Fish-eye disease, apoA-I and -C-III deficiencies) |
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Definition
| All of these related syndromes have reduced HDL concentrations, no effect on chylomicron or VLDL production Tendency to hypertriacylglycerolemia; some elevation in VLDLs; Fish-eye disease characterized by severe corneal opacity |
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Term
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Definition
| when cholesterol is degraded to pregnenolone what is the enzyme used that is part of the cholesterol side chain cleavage system |
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Term
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Definition
| Corticosteroid binding globulin ______carries cortisol |
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Term
| Steroidogenic Acute Regulatory Protein |
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Definition
Transport of free cholesterol from the cytoplasm into mitochondria.
carried out by the |
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Term
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Definition
| what is the precursor for cholesterol |
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Term
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Definition
| what stimulates the conversion in the first stage of steroid hormone synthesis |
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Term
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Definition
| reduction of the 17-keto group of androstenedione produces? |
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Term
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Definition
| Testosterone reduced by 5a-reductase to yield |
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Term
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Definition
| what are from androgens by the loss of C-19 angular methyl group and the formation of an aromatic A ring. |
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Term
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Definition
Maintains pregnancy
Inhibits follicular maturation and ovulation
prevents spontaneous uterine contraction |
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Term
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Definition
| increased conversion of corticosterone to aldosterone in the zona glomerulosa |
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Term
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Definition
Increases renal Na+ reabsorption restoring extracellular fluid volume and blood volume
Increases renal K+ secretion in the face of hyperkalemia |
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Term
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Definition
| Hypothalamic control is via ____ on pituitary |
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Term
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Definition
these are
Important for stress response
Stimulates gluconeogenesis
Increase protein catabolism/decrease synthesis thus providing more amino acids to liver
Decreases glucose use and insulin sensitivity in fat tissue
Increase lipolysis |
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Term
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Definition
Glucocorticoids Induce synthesis of _______ which inhibits phospholipase A2
Inhibits production of IL-2 as well as T-cell production
Inhibits release of histamine and serotonin from mast cells and platelets |
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Term
| 21-hydroxylase (CYP21A2) deficiency |
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Definition
Most common form of CAH accounting for 90% of all cases
Clinical manifestations result from loss of aldosterone and cortisol with precursors being shunted into androgen synthesis
Total loss of enzyme activity results in 'salt-wasting' disease (loss of aldosterone) and virilization and ambigous genitalia of a female infant (increased testosterone production |
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Term
| 11β hydroxylase deficiency |
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Definition
| virilization, hypertension, perhaps due to increased production of 11-deoxycortisol which has mineralocorticoid actions |
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Term
| 17α hydroxylase deficiency |
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Definition
| hypertension with hypokalemia due to excessive production of mineralocorticoids; failure of pubertal development in genetic females and genetic males presenting at puberty with female external genitalia and intra-abdominal testes |
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Term
| 3 β hydroxy steroid dehydrogenase deficiency |
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Definition
| defective production of all steroids. adrenal failure in early infancy |
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