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4 Cards in this Set
- Front
- Back
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List the symptoms and phenotype for 17α-HYDROXYLASE-DEFICIENCY
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↓ Sex hormones
↓ Cortisol ↑ Aldosterone (↑Na+, ↓ K+) ↑ BP If XY then Pseudo-hermaphroditism: Externally female with no internal structures due to Mullerian IF If XX then Sexual Infantism: Externally female WITH internal structures but no secondary sex traits |
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List the symptoms and phenotype for 21-HYDROXYLASE-DEFICIENCY
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MOST COMMON
↑ Sex hormones ↓ Cortisol (but ↑ ACTH) ↓ Aldosterone ↓ BP Males virilize before puberty, females have all their structures but external genetalia may be ambiguous (labia partially fused like a scrotum, enlarged clitoris, etc) Salt-wasting form can lead to hypotensive shock in newborns |
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List the symptoms and phenotype for 11β-HYDROXYLASE-DEFICIENCY
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↑ Sex hormones
↓ Cortisol ↓ Aldosterone (↑Na+, ↓ K+) ↑ BP Mild masculinization (similar to 21 hydroxylase def, but not as severe) |
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List the symptoms and phenotype for AROMATASE-DEFICIENCY
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Masculinization in females (no effect on males)
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