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25 Cards in this Set
- Front
- Back
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Sex hormones and cortisol cannot be made
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17-alpha-hydroxylase deficiency
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Sex hormones can still be made, but cortisol and mineralocorticoids cannot
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21-hydroxylase deficiency
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Deoxycorticosterone can still be made
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11-beta-hydroxylase deficiency
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Mineralocorticoids are increased (hypertension)
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17-alpha-hydroxylase deficiency, 11-beta-hydroxylase deficiency
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Sex hormones are increased
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21-hydroxylase deficiency, 11-beta-hydroxylase deficiency
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Sex hormones are decreased
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17-alpha-hydroxylase deficiency only
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Mineralocorticoids are decreased (hypotension, volume depletion)
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21-hydroxylase deficiency only
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What are the three enzyme deficiencies that result in congenital bilateral adrenal hyperplasia?
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17-alpha hydroxylase deficiency
21-hydroxylase deficiency 11-beta-hydroxylase deficiency |
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Salt wasting can lead to hypovolemic shock in the newborn
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21-hydroxylase deficiency
(no mineralocorticoid whatsoever to hold onto the salt) |
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Hyperkalemia is seen in this deficiency
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21-hydroxylase deficiency (due to absence of aldosterone)
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Increased renin activity is seen in this deficiency
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21-hydroxylase deficiency
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Hypokalemia is seen in this deficiency
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17-alpha-hydroxylase deficiency (due to excess aldosterone)
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Externally phenotypic female with no internal reproductive structures
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XY with 17-alpha-hydroxylase deficiency
(Sertoli cells are still able to produce MIF in utero) |
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Externally phenotypic female with normal internal sex organs, but has sexual infantilism (fails to go through puberty)
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XX with 17-alpha-hydroxylase deficiency (unable to produce sex hormones during puberty)
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Male pseudohermaphroditism
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17-alpha-hydroxylase deficiency (due to absence of DHT); both 11- and 21-hydroxylase deficient individuals are still able to produce sex hormones
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Female pseudohermaphroditism
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21-hydroxylase deficiency, 11-beta-hydroxylase deficiency (due to increased sex hormones); not 17-alpha-hydroxylase deficiency because androgens cannot be produced
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T/F: A genotypically female newborn with 21-hydroxylase deficiency will have normal genetalia
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False. Will have enlarged clitorus
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T/F: A genotypically male newborn with 21-hydroxylase deficiency will have normal genitalia
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True.
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T/F: A genotypically female newborn with11-beta-hydroxylase deficiency will have normal genetalia
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False. Will have enlarged clitorus
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T/F: A genotypically male newborn with 11-alpha-hydroxylase deficiency will have normal genitalia
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True.
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These cytochrome enzymes are involved in the synthesis of aldosterone
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11-beta hydroxylase, 21-alpha hydroxylase
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This cytochrome enzyme is involved in the synthesis of androgens
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17-alpha hydroxylase
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These cytochrome enzymes are involved in the synthesis of cortisol
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17-alpha hydroxylase, 21-alpha hydroxylase, 11-beta hydroxylase
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This enzyme converts testosterone to DHT
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5-alpha reductase
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This enzyme converts inactive vitamin D to calcitriol
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1-alpha hydroxylase (kidney)
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