Pathology [Repro] Flashcards
(248 cards)
Diagnose: male, testicular atrophy, eunuchoid body shape, tall stature, long extremities, gynecomastia, female hair distribution +/- developmental delay
Klinefelter’s syndrome
What are the characteristic lab findings in Klinefelter’s syndrome?
Increased: LH, FSH, oestrogen
Decreased: inhibin, testosterone
What genetic abnormalities are associated with Klinefelter’s syndrome?
XXY
Diagnose: female, short stature, ovarian dysgenesis (streak ovaries), shield chest, bicuspid aortic valve, webbed neck, coarctation of aorta, horshoe kidney, dysgerminonma, lymphedema
Turner syndrome
What are the characteristic lab findings in Turner syndrome?
Increased: LF, FSH
Decreased: estrogen
What are the characteristic histo-path findings of Turner syndrome?
No Barr bodies
What genetic abnormalities are associated with Turner syndrome?
XO
Diagnose: male, tall stature, severe acne, antisocial behavior
Double Y syndrome
What genetic abnormalities are associated with Double Y syndrome?
XYY
What is the etiology of female pseudo-hermaphroditism?
Excessive exposure to androgens during gestation
What are the characteristic signs and symptoms of female pseudo-hermaphroditism?
Ovaries present, external genitalia virilized or ambiguous
What are the characteristic signs and symptoms of male pseudo-hermaphroditism?
Testes present, external genitalia female or ambigious
What are the characteristic signs and symptoms of true hermaphroditism?
Both ovarian and testicular tissue present, ambiguous genitalia
What is the etiology of androgen insensitivity syndrome?
Defect in andogen receptor
Diagnose: female external genitalia, rudimentary vagina, internal testes, scant sexual hair
Androgen insensitivity syndrome
What are the characteristic lab findings in androgen insensitivity syndrome?
Increased: testosterone, LH, estrogen
What genetic abnormalities are associated with androgen insensitivity syndrome?
46, XY i.e. normal male
What are the characteristic lab findings in primary hypogonadism?
Increased: LH
Decreased: testosterone
What are the characteristic lab findings in hypogonadotropic hypogonadism?
Decreased: LH, testosterone
What are the characteristic lab findings in testosterone-secreting tumor?
Increased: testosterone
Decreased: LH
What are the characteristic lab findings in exogenous steroid use?
Increased: testosterone
Decreased: LH
What is the etiology of Kallmann syndrome?
Defective migration of GnRH cells
Diagnose: anosmia, lack of secondary sex characteristics
Kallmann syndrome
What are the characteristic lab findings in Kallmann syndrome?
Decreased: GnRH, FSH, LH, testosterone, sperm count






