Pubertal Variation

Question 1

when should thelarche onset?

Answer 1

after age 7

Question 2

when should menarche onset?

Answer 2

after age 10 but before age 15

Question 3

when is it delayed puberty with secondary sex characteristics?

Answer 3

if none by age 13

Question 4

what is genetic change in mccune albright syndrome?

Answer 4

somatic mutation in G3 protein of GNAS gene

Question 5

what does the mutation in mccune albright syndrome lead to?

Answer 5

autonomous endocrine gland function

Question 6

what are the three classic findings for mccune albright syndrome?

Answer 6

polyostotic fibrous dysplasia
cafe au lait
hyperfunctioning endocrine syndrome

Question 7

what are the common endocrine disorders with mccune albright syndrome?

Answer 7

precocious puberty
testicular abnormality
hyperthyroid
GH excess
cushings

Question 8

what is precocious puberty?

Answer 8

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

Question 9

what causes precocious puberty in mccune albright syndrome?

Answer 9

estrogen producing cysts

Question 10

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

Answer 10

macro orchidism

Question 11

what is rx for estrogen increase in mccune albright syndrome?

Answer 11

aromatase inhibitors

Question 12

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

Answer 12

letrozole and anastrozole

Question 13

what are physical findings of turner syndrome?

Answer 13

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

Question 14

are FSH/LH normal low or high in turners?

Answer 14

high

Question 15

is estrogen normal low or high in turners?

Answer 15

low

Question 16

why is estrogen low in turners?

Answer 16

because ovaries are not functioning properly

Question 17

what are associated abnormalities of Turners?

Answer 17

renal
CV
autoimmune

Question 18

what is most common autoimmune issue in turners?

Answer 18

hashimotos

Question 19

what are the CV issues in turners?

Answer 19

MVP
bicuspid aortic valve
coarctation of aorta

Question 20

what two hormones to give in turner syndrome/

Answer 20

GH replacement and estrogen/progestin

Question 21

what is karyotype of turners?

Answer 21

45X

Question 22

what is CAIS?

Answer 22

complete androgen insensitivity syndrome

Question 23

what happens in complete androgen insensitivity syndrome ?

Answer 23

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

Question 24

what happens to puberty in complete androgen insensitivity syndrome ?

Answer 24

it is delayed

Question 25

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

Answer 25

no

Question 26

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

Answer 26

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

Question 27

what happens to excess androgens in complete androgen insensitivity syndrome ?

Answer 27

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

Question 28

what is Rx for complete androgen insensitivity syndrome ?

Answer 28

remove testes and estrogen replace

Question 29

what is MRKH?

Answer 29

mullerian agenesis

Question 30

what happens in mullerian agenesis?

Answer 30

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

Question 31

what other abnormalities can occur with mullerian agenesis?

Answer 31

renal cardiac and spinal (MURCS)

Question 32

what is inheritance of mullerian agensis?

Answer 32

usually sporadic

Question 33

what is appearance of female in mullerian agenesis?

Answer 33

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

Question 34

what is inheritance of complete androgen insensitivity syndrome ?

Answer 34

X linked recessive

Question 35

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

Answer 35

hypothal-pituitary axis

Question 36

name the hypothal/pit syndrome with later puberty?

Answer 36

Kallman syndrome

Question 37

what hormone is usually the cause of Kallman syndrome?

Answer 37

GnRH deficiency

Question 38

what is main finding in kallman syndrome?

Answer 38

delayed puberty (primary amenorrhea)

Question 39

who can get kallman syndrome?

Answer 39

males and females

Question 40

what should you give females with kallmans?

Answer 40

estrogen replacement, FSH

Question 41

what should you give males with kallman syndrome?

Answer 41

testosterone, hCG and FSH

Question 42

what is 5a recuctase deficiency?

Answer 42

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

Question 43

what is DHT in charge of in development?

Answer 43

external genitalia

Question 44

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

Answer 44

phallus enlargement, body hair increase, acne

Question 45

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

Answer 45

female external genitalia

Question 46

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

Answer 46

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

Question 47

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

Answer 47

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

Question 48

what is inheritance of 5a reductase deficiency?

Answer 48

AR

Question 49

what is karyotype of 5a reductase deficiency?

Answer 49

46XY

Question 50

what is common presentation of 5a reductase deficiency?

Answer 50

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

Question 51

what hormone is super high in 5a reductase deficiency?

Answer 51

testosterone

Question 52

what ratio is high in 5a reductase deficiency?

Answer 52

testosterone to DHT