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Reproductive Pathophysiology > Normal and Abnormal Sexual Development > Flashcards

Normal and Abnormal Sexual Development Flashcards

1
Q

_________ gene regulates the inactivation of one X chromosome in female

A

XIST

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2
Q

what are the four levels of sexual differentiation?

A

chromosomal
gonadal
internal sexual organs
external genitalia

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3
Q

what does the “silenced” X chromosome become?

A

Barr body

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4
Q

what is one gene involved in gonadal differentiation located on autosomal chromosomes?

A

steroidogenic factor-1 (SF-1)

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5
Q

what autosomal genes lead to development of sertoli cells?

A

SOX-9
repressor element

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6
Q

what does the gene Wnt-4 do?

A

suppresses leydig cell development
paramesonephric duct development

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7
Q

what activates the steroidogenic enzymes necessary to synthesize testosterone?

A

steroidogenic factor-1 (SF-1)

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8
Q

what leads to development of male external genitalia?

A

5alpha-dihydrotestosterone (5alpha-DHT)

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9
Q

_________________ is converted to 5alpha-dihydrotestosterone

A

testosterone

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10
Q

what converts testosterone into 5alpha-dihydrotestosterone?

A

5alpha-reductase

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11
Q

what is 5alpha-dihydrotestosterone needed for development of?

A

prostate
bulbourethral glands
penis
scrotum

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12
Q

does the primordial contain 5alpha-reductase in both the male and female embryo?

A

yes

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13
Q

what is testosterone converted into in the brain?

A

estradiol by aromatase

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14
Q

what is intersex?

A

an animal with characteristics of both sexes: chromosomal, hormonal, and/or internal organ/external genitalia level

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15
Q

what are the three main categories of disorder of sexual development?

A

sex chromosome disorder of sexual development
XX disorder of sexual development
XY disorder of sexual development

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16
Q

what is a chimera?

A

animal that is a mix of two genetically distinct cells that originated from different embryos

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17
Q

what is a mosaic?

A

animal that contains two or more genetically different cells

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18
Q

what is a true hermaphrodite?

A

gonadal tissue of both sexes present

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19
Q

what are some conditions associated with chromosomal anomalies?

A

XO gonadal dysgenesis of horses
seminiferous tubular dysgenesis
freemartin- chimerism in cattle

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20
Q

what are some features of XO gonadal dysgenesis of horses?

A

similar to turner’s syndrome in humans
small height and weight
sterile, not estrous cycle
streak gonads

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21
Q

what are some signs of seminiferous tubular dysgenesis (similar to kleinfelter’s in humans) (XXY)?

A

atrophic testes
lack of secondary male characteristics
infertility associated with the absence of striking reduction in sperm
lower than normal serum testosterone

22
Q

what is a male calico cat almost always?

A

XXY

23
Q

what type of chimeras are freemartins?

A

hematopoietic

24
Q

what is the freemartin effect caused by?

A

testicular tissue forming in the female ovary: AMH/MIS and androgens

25
Q

what are some traits of freemartins?

A

shortened/incomplete vagina
formation of vesicular glands
hypoplastic gonads/streak gonads
hypoplastic vulva
enlarged clitoris

26
Q

what are some types of gonadal dysgenesis?

A

gonadal hypoplasia
XY gonadal dysgenesis
gonadal dysgenesis related to chromosomal anomalies- sex chromosome DSD

27
Q

what type of gene is swedish highland breed ovarian hypoplasia?

A

autosomal recessive gene

28
Q

what is the phenotypic appearance in XY gonadal dysgenesis?

A

appear to be females

29
Q

what are the ovaries like in XY gonadal dysgenesis?

A

small with no, or reduced numbers of ova
often streak ovaries

30
Q

what are some ways that gonadal sex differs from internal reproductive organ and/or external genitalia sexual development?

A

XX sex reversal
androgen insensitivity
persistent mullerian duct syndrome of miniature schnauzers
drug induced intersexuality

31
Q

what happens in XX sex reversal with the genes?

A

XX, but SRY/TDF (or other male associated fertility gene) is located on paternal X or on autosome

32
Q

what is the Y effect gene (recessive) in the polled goat intersex associated with?

A

polled gene (dominant)

33
Q

what is the problem in females with polled goat intersex?

A

variably masculinized

34
Q

are individuals with androgen insensitivity XY or XX?

A

XY

35
Q

describe the phenotype of individuals with androgen insensitivity (XY DSD)

A

testes in abdomen
male internal reproductive organs
external phenotype is female

36
Q

what are testosterone levels like in androgen insensivity?

A

high

37
Q

what is the etiology of androgen insensitivity?

A

deficiency of androgen receptors

38
Q

what are individuals with persistent mullerian duct syndrome of miniature schnauzers phenotypically?

A

male

39
Q

what sex organs do individuals with persistent mullerian duct syndrome of miniature schnauzers have?

A

cryptorchid testes
uterus

40
Q

what might XY pseudohermaphrodite syndrome (persistent mullerian duct syndrome) of miniature schnauzers be due to?

A

lack of AMH/MIF

41
Q

when can problems develop with drug induced intersexuality (XX DSD or XY DSD)?

A

pregnant animals administered hormones (testosterone, estrogen) or substances that act like these hormones

42
Q

when diagnosing DSD, what should you determine?

A

if the problem is at the level of the sex chromosomes, gonads, internal reproductive organs, or external genitalia

43
Q

what does steroidogenic factor-1 control?

A

gonadal differentiation
androgen production
anti-mullerian hormone/mullerian inhibiting substance production

44
Q

what does Wnt-4 support the development of?

A

paramesonephric duct

45
Q

what does sexual behavior depend on?

A

hormonally driven development of appropriate areas of the brain during gestation

46
Q

what do XO gonadal dysgenesis of horses, seminiferous tubular dysgenesis, and freemartins all have?

A

gonadal dysgenesis

47
Q

what is the karyotype of freemartins?

A

60XX
60XY

48
Q

what is XY gonadal dysgenesis phenotypically similar to in people?

A

complete androgen insensitivity syndrome: have testes and produce testosterone

49
Q

do animals with androgen insensitivity have uteruses?

A

no

50
Q

how can you diagnose androgen insensitivity?

A

testosterone levels
karyotyping

51
Q

what happens in congenital adrenal hyperplasia that viralizes the fetus?

A

gland of fetus produces excess androgen

Reproductive Pathophysiology (12 decks)

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