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25 Cards in this Set
- Front
- Back
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What is the genetic makeup of Klinefelter's Syndrome?
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Male 47 XXY
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What are the FSH/LH/Estrogen levels like in Klinefelters?
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ALL Increased
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What are some symptoms of Klinefelters?
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Testicular atrophy, eunuchoid body shape (pear hips), tall, long extremities, gynecomastia, female hair distribution
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What is a classical finding in the PMN's of a Klinefelters patient?
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Barr bodies (inactive extra X chromosome)
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What is the genetic makeup of Turners syndrome?
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Female 45 XO
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What are the FSH/LH/Estrogen levels in Turners?
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Dec Estrogen
Inc FSH/LH |
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What are some symptoms of Turner's syndrome?
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Short stature, ovarian dysgenesis (streak ovaries), shield chest, bicuspid aortic valve, defects in lymphatics
WEBBING of the neck, lymphedema in feet/hands, preductal coarction of the aorta, horseshoe kidneys, Primary Amenorrhea |
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Do Turner's patients have Barr bodies?
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NO, no inactive X chromosome
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What is the genetic makeup of Double Y males?
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Male XYY
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What are some symptoms of Double Y males?
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Pretty normal, very tall, lots of acne, some predisposition to Antisocial behavior, normal fertility
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What are the testosterone/LH levels like with Defective Androgen Receptor?
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Both High, testosterone isn't "seen" by the receptor, so the body thinks it needs more, increases LH to increase T levels, both elevated
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What are the testosterone/LH levels like with Testosterone Secreting Tumor/Exogenous Steroids?
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High T, Low LH
Excess testosterone recognized, body decreases LH levels to attempt to decrease T levels |
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What are the testosterone/LH levels like with Primary Hypogonadism?
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Low T, High LH
Testes/Ovaries not making T, body increases LH to attempt to raise T levels |
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What are the testosterone/LH levels like with Hypogonadotropic Hypogonadism?
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Both Low
Both the pituitary and the testes/ovaries are not creating enough LH and T |
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What is the general definition of Pseudohermaphroditism?
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Disagreement between phenotypic external genitalia and the gonads
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What are the clinical signs of a Female Pseudohermaphrodite?
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Ovaries present, external genitalia are virilized or ambiguous
From excessive and inappropriate exposure to androgenic steroids during early gestation |
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What are the clinical signs of a Male Pseudohermaphrodite?
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Testes present, external genitaila are female or ambiguous
Common from Androgen Insensitivity Syndrome |
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What is the general definition of a true hermaphrodite?
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Both gonads present, ambiguous genitalia
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What is the genetic makeup of Androgen Insensitivity Syndrome?
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46 XY
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What is the defect and the result of that defect in AIS?
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Defect in androgen receptor = normal appearing female
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What are the genitals like in AIS?
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Female external with rudimentary vagina
NO Uterus/Fallopian Tubes |
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Where do the testes develop in AIS?
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Labia majora, remove to avoid mailgnancy
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What is the major problem of 5a-reductase deficiency?
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Can't convert Testosterone to DHT
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What are the genitalia like in 5a-reductase deficiency?
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Ambiguous genitalia until puberty, then masculinization
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What are hormone levels like in 5a-reductase deficiency?
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All normal except DHT
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