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RDS Test 3 > B8-059 Disorders of Sex Development > Flashcards

B8-059 Disorders of Sex Development Flashcards

1
Q

most common cause of male hypogonadism

A

klinefelter syndrome

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2
Q

gyencomastia
tall
less body hair
small, firm testes

A

klinefelter syndrome

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3
Q

in klinefelters, the […] do not enlarge and undergo fibrosis, resulting in small firm testes and azoospermia

A

seminiferous tubules

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4
Q

why do patients with klinefelter’s exhibit declining T levels and elevating LH secretion?

A

leydig cells become progressively deficient

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5
Q

streaked ovaries

A

Turners

(normal tissue replaced by fibrous tissue –> gonadal dysgenesis)

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6
Q

why should cryptorchidism be corrected? [3]

A

increased risk of germ cell tumors
increased risk of torsion
impaired fertility

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7
Q

mutations in AMH or it’s receptor (AMHR-2), result in

A

46 XY, PMDS

(persistent mullerian duct syndrome)

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8
Q

absence of sertoli cells or AMH would result in

A

both male and female internal genitalia with streak gonads

male external genitalia

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9
Q

absence of 5-a reductase would result in

A

male internal genitalia
female/atypical external genitalia until puberty

(cannot convert T to DHT)

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10
Q

[…] duct gives rise to internal male genitalia

A

mesonepheric

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11
Q

[…] duct gives rise to internal female genitalia

A

paramesonepheric

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12
Q

presence of SRY gene activates […] and […] cells and ultimately leads to the formation of male external genitalia

A

leydig (mesonepheric ducts persist)
sertoli (paramesonepheric ducts degenerate)

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13
Q

absence of SRY gene activates […] and […] cells and ultimately leads to the formation of female external genitalia

A

thecal (mesonepheric duct degenerates)
follical (paramesonepheric persists)

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14
Q

when SRY is present, leydig cells produce […] which allows for mesonepheric duct to persist

A

testosterone

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15
Q

when SRY is present, sertoli cells produce […] which allows for paramesonepheric duct to degenerate

A

AMH

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16
Q

testicular descent into the scrotum is dependent on […]

A

INSL3 and T

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17
Q

SRD5A1 is the gene for […]

A

5-a reductase

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18
Q

what hormones drive development of the labioscrotal folds and clitorophallus?

A

T and DHT

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19
Q

[…] cause the urethral plate to give rise to the penile urethra

A

androgens

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20
Q

testes present
but external genitalia feminized or atypical

most commonly caused by androgen insensitivity syndrome

A

46 XY DSD

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21
Q

ovaries present
external genitalia are virilized/atypical

most commonly due to congenital adrenal hyperplasia

A

46 XX DSD

(due to excessive exposure to androgens in early development)

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22
Q

markedly elevated 17-hydroxyprogesterone is diagnostic for

A

CAH

23
Q

in CAH, if a deficient enzyme starts with 1, it causes

A

hypertension

24
Q

in CAH, if a deficient enzyme ends with 1 it causes

A

virilization in females

25
Q

ovotesticular DSDs are most commonly observed in individuals with […]

A

mosaicisms

(46, XX/ 46XY karyotype)

26
Q

ovotesticular DSD is more common in 46 […]

A

46,XX

27
Q

both ovarian and testicular tissue present
atypical genitalia

A

ovotesticular DSD

28
Q

most patients with 46 XX DSDs have normal testicular function but are infertile due to […] defect

A

spermatogenic

29
Q

translocations of […] can block the female pathway and drive testicular development

A

SRY

(results in 46XX SRY+)

30
Q

mutations in RSPO1 or WNT4 can allow for partial or complete […] development in 46 XX SRY- DSD patients

A

testis

typically, RSPO1 and WNT4 inhibit SOX9, inducing female pathway

31
Q

46, XX SRY- DSD is typically a result of translocation of […] gene

A

SOX9

typically, RSPO1 and WNT4 inhibit SOX9, inducing female pathway

32
Q

defect in androgen receptor resulting in female appearing genetic male

A

androgen insensitivity syndrome

(46, XY DSD)

33
Q

testes present and functional
blind vaginal pouch
no T or DHT activity (no hair)

A

complete androgen insensitivity syndrome

(46, XY DSD)

34
Q

46, XY DSDs are […] virilized

A

under

35
Q

46, XX DSDs are […] virilized

A

over

36
Q

one of the most common causes of atypical genitalia in newbowns

A

21-hydroxylase deficiency

37
Q

classic CAH is characterized by [hormone] deficiency

A

cortisol

(75% are salt-losers due to aldosterone)

38
Q

SRY activates [gene]

A

SOX9

39
Q

SOX9 and FGF9 destabilize […] to inhibit ovarian development

A

b-catenin

40
Q

[…] induces and maintains sertoli cell differentiation

A

SOX9

41
Q

sertoli cells induce leydig cell development. leydig cells induce […]

A

NR5A1

42
Q

stabilize b-catenin and induce the ovarian pathway [2]

A

RSPO1 and WNT4

43
Q

[…] induces granulosa cell differentiation

A

FOXL2

44
Q

treatment for 21-hydroxylase deficiency

A

dexamethasone

45
Q

low T and poor response to hCG
normal AMH
high LH/FSH
absent paramesonephric derivatives

A

leydig cell hypoplasia

46
Q

reduced T and INSL3 would be consistent with

A

undescended testes

47
Q

enhanced SOX9 levels in XX individuals drive […] development

A

testis

(but no Y chromosome, so testes don’t make sperm=infertility)

48
Q

a mutation that modestly impacts the WNT pathway would result in

A

ovotestes

(only partially divert ovarian pathway)

49
Q

what is the most likely presentation for an individual with 46, XY DSD with inactivated SRY?

A

streaked gonads
female external genitalia
uterus

SRY inactivation= gonad dysgenesis
also no production of AMH/MIS = female genitalia

50
Q

NR5A1 mutations cause […] dysgenesis

A

testes

(no sertoli/leydig cells –> no AMH –> female)

51
Q

RSPO1 mutations divert the ovarian pathway to the testicular pathway by destabilizing […]

A

b-catenin

52
Q

complete loss of RSPO1 function would result in

A

testis development
infertility

53
Q

partial loss of RSPO1 function would result in

A

ovotestes

RDS Test 3 (15 decks)

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