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Repro Week 1 > Pubertal Variation > Flashcards

Pubertal Variation Flashcards

1
Q

when should thelarche onset?

A

after age 7

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2
Q

when should menarche onset?

A

after age 10 but before age 15

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3
Q

when is it delayed puberty with secondary sex characteristics?

A

if none by age 13

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4
Q

what is genetic change in mccune albright syndrome?

A

somatic mutation in G3 protein of GNAS gene

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5
Q

what does the mutation in mccune albright syndrome lead to?

A

autonomous endocrine gland function

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6
Q

what are the three classic findings for mccune albright syndrome?

A

polyostotic fibrous dysplasia
cafe au lait
hyperfunctioning endocrine syndrome

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7
Q

what are the common endocrine disorders with mccune albright syndrome?

A 
precocious puberty
testicular abnormality
hyperthyroid
GH excess
cushings
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8
Q

what is precocious puberty?

A

mainly in females with mccune albright syndrome…they get episodic breast dvlpmnt growth accel and vginal bleeding early

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9
Q

what causes precocious puberty in mccune albright syndrome?

A

estrogen producing cysts

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10
Q

what is seen in testis of boys with mccune albright syndrome?

A

macro orchidism

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11
Q

what is rx for estrogen increase in mccune albright syndrome?

A

aromatase inhibitors

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12
Q

name the aromatase inhibitors used in girls with mccune albright syndrome?

A

letrozole and anastrozole

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13
Q

what are physical findings of turner syndrome?

A 
webbed neck
shield chest
wide nipples
cubitus valgus
prepubertal vagina cervix and uterus
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14
Q

are FSH/LH normal low or high in turners?

A

high

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15
Q

is estrogen normal low or high in turners?

A

low

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16
Q

why is estrogen low in turners?

A

because ovaries are not functioning properly

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17
Q

what are associated abnormalities of Turners?

A

renal
CV
autoimmune

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18
Q

what is most common autoimmune issue in turners?

A

hashimotos

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19
Q

what are the CV issues in turners?

A

MVP
bicuspid aortic valve
coarctation of aorta

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20
Q

what two hormones to give in turner syndrome/

A

GH replacement and estrogen/progestin

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21
Q

what is karyotype of turners?

A

45X

22
Q

what is CAIS?

A

complete androgen insensitivity syndrome

23
Q

what happens in complete androgen insensitivity syndrome ?

A

testes make testosterone and AMH during development then get inactivating mutation in androgen receptor resulting in end organ insensitivity to androgens

24
Q

what happens to puberty in complete androgen insensitivity syndrome ?

A

it is delayed

25
Q

will you have uterus or upper vagina in complete androgen insensitivity syndrome ?

A

no

26
Q

what does the insensitivity to androgens cause in external genitalia in complete androgen insensitivity syndrome ?

A

prevents masculinization of internal and external genitalia during development and no male pattern hair growth in pubic area

27
Q

what happens to excess androgens in complete androgen insensitivity syndrome ?

A

since body parts are insensitive they can be aromatized in some tissues to estrogen and you can get breast development and female body contour

28
Q

what is Rx for complete androgen insensitivity syndrome ?

A

remove testes and estrogen replace

29
Q

what is MRKH?

A

mullerian agenesis

30
Q

what happens in mullerian agenesis?

A

you get normal ovaries and fallopian tubes but no uterus or cervix

31
Q

what other abnormalities can occur with mullerian agenesis?

A

renal cardiac and spinal (MURCS)

32
Q

what is inheritance of mullerian agensis?

A

usually sporadic

33
Q

what is appearance of female in mullerian agenesis?

A

normal appearing female with vagina and ovaries but no menses (late menarche) and no uterus or cervix

34
Q

what is inheritance of complete androgen insensitivity syndrome ?

A

X linked recessive

35
Q

if you have late for puberty and have low FSH/LH what are you thinking the location of issue is?

A

hypothal-pituitary axis

36
Q

name the hypothal/pit syndrome with later puberty?

A

Kallman syndrome

37
Q

what hormone is usually the cause of Kallman syndrome?

A

GnRH deficiency

38
Q

what is main finding in kallman syndrome?

A

delayed puberty (primary amenorrhea)

39
Q

who can get kallman syndrome?

A

males and females

40
Q

what should you give females with kallmans?

A

estrogen replacement, FSH

41
Q

what should you give males with kallman syndrome?

A

testosterone, hCG and FSH

42
Q

what is 5a recuctase deficiency?

A

when you are missing this enzyme you get buildup of testosterone and low levels of DHT

43
Q

what is DHT in charge of in development?

A

external genitalia

44
Q

if you do have DHT then what happens to external genitalia?

A

phallus enlargement, body hair increase, acne

45
Q

with 5a reductase deficiency what happens to external genitalia at birth?

A

female external genitalia

46
Q

with 5a reductase deficiency what happens to internal genitalia at birth?

A

they are male because has testosterone and presence of anti mullerian hormone

47
Q

since you can degrade testosterone into DHT, what will happen due to increased testosterone in puberty?

A

increase muscle mass, libido, deepening of voice and lengthening of the clitoris

48
Q

what is inheritance of 5a reductase deficiency?

A

AR

49
Q

what is karyotype of 5a reductase deficiency?

A

46XY

50
Q

what is common presentation of 5a reductase deficiency?

A

male body habitus with external female genitalia with short vagina and no cervix/uterus

51
Q

what hormone is super high in 5a reductase deficiency?

A

testosterone

52
Q

what ratio is high in 5a reductase deficiency?

A

testosterone to DHT

Repro Week 1 (5 decks)

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