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Embryology II - Congenital Pathologies

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omarys's version from 2017-05-08 21:24

Section 1

Question Answer
46 XY DSD have ___ external genitaliafemale
46 XY DSD ___ (do/do not) have female genital duct derivatives (e.g. uterus)do not - they are genetic males so they have the SRY gene, which stimulates Sertoli cells to secrete AMH and obliterate the mullerian ducts
TRUE OR FALSE- 46 XY DSD patients may or may not have internal male genital duct derivatives (e.g. vas deferens, seminal vesicle)True - if they have 5a-reductase deficiency only, they WILL have internal male ducts (mesonephric duct derivatives)
This condition results from inadequate testosterone production, inadequate DHT production, or androgen insensitivity syndromeMale pseudohermaphroditism (46, XY DSD)
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Section 2

Question Answer
This condition in females results from CAH or exposure to high androgen levelsFemale pseudohermaphroditism (46, XX DSD)
External genitalia in 46 XX DSD?Male - because of high androgen levels
Genital ducts in 46 XX DSD?both male and female (check this)
Persistent urogenital sinusthe urethra and the vagina have a common opening, the result of incomplete separation/budding of the vagina from the urinary bladder. Found in XX DSD
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Section 3

Question Answer
When the testes do not fully descend to the scrotum but are along the path of descent of the gubernaculumcryptorchid testes
ectopic testestestes that deviate from the normal path of descent and lodge in abnormal locations
The cause of cryptorchid testesTestosterone deficiency
The cause of ectopic testesGubernaculum abnormalities
A hydrocele results from incomplete closure of theprocessus vaginalis
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Section 4

Question Answer
Results from inadequate ectoermal-mesenchymal interactionepispadias
Results from testosterone deficiency or insensitivityhypospadias
Is associated with exstrophy of the bladderepispadias
the urethra opens on the dorsal surface of the penisepispadias
the urethra has multiple openings on the ventral surface of the penishypospadias
commonhypospadias
rare (rare = epic)epispadias
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Section 5

Question Answer
Agenesis of external genitalia might be a part of the _____ associationVACTERL
Agenesis of external genitalia might be associated withsirenomelia (L in VACTERL = Limb)
Agenesis of external genitalia results frominadequate mesoderm cell migration or inadequate ectodermal-mesenchymal interaction
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Section 6

Question Answer
Anomalies of the uterus and vagina (e.g. unicornate uterus) result from abnormal development or fusion of the paramesonephric ducts
failure of canalization of the vaginal platevaginal atresia
abnormal perforation of the inferior end of the vagina results inhymen anomalies (e.g. septate hymen, cribriform hymen)
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