Puberty

Question 1

definition: adrenaarche

• what is it responsible for?
• when does it occur?

Answer 1

• regeneration of zona reticularis in the adrenal cortex
• responsible for secretion of sex steroid hormones
• occurs between age 6-8

Question 2

definition: gonadarche

• what is it responsible for?
• when does it occur?

Answer 2

• pulsatile GnRH secretion from hypothalamus is increased
• stimulates anterior pituitary to secrete FSH and LH
• no phenotypic changes yet
• begins around age 8

Question 3

definition: thelarche

• what is it responsible for?
• it occurs in response to what hormone?
• when does it occur?

Answer 3

• breast bud development
• first phenotypic sign of puberty
• occurs in response to estrogen
• occurs around age 11

Question 4

definition: pubarche

• when does it occur?
• it is a result of what hormones?
• what phase does it follow?
• it precedes menarche by how long?

Answer 4

• occurs around age 12
• onset of pubic hair growth
• likely a result of increased androgens
• usually follow thelarche
• precedes menarche by 2 years

Question 5

definition: menarche

- when does it occur?

Answer 5

• onset of menses

- average age 12-13 or 2.5 years after breast bud development

Question 6

what happens to the HP axis during prepubertal years? why?

Answer 6

downregulation with reduction in GnRH pulses

Question 7

what occurs with GnRH physiology at the onset of puberty?

Answer 7

• around 8 years of age GnRH becomes enhanced during sleep
• increased amplitude and frequency of pulsatile GnRH provoke progressively enhanced responses from pituitary of FSH and LH
• these continue to rise throughout puberty, but LH to a larger extent

Question 8

how / where does estrogen produce both negative and positive feedback during puberty?

Answer 8

negative - combines within inhibin to inhibit FSH response

positive - increases LH secretory response to GnRH

Question 9

the process of sexual maturation takes how long?

Answer 9

2.5 years

Question 10

true precocious puberty is due to what cause? how does it develop?

Answer 10

GnRH dependent sex hormone production

develops secondary to early activation of the HPG axis

Question 11

how does GnRH precocious purberty develop?

Answer 11

results from sex hormone production of androgens and estrogens independent of HP stimulation

Question 12

McCune Albright syndrome is characterized by what signs?

Answer 12

• multiple bone fractures
• cafe au lait spots
• precocious puberty

Question 13

what is the most common form of congenital adrenal hyperplasia? how does it present?

Answer 13

21 hydroxylase deficiency

presents with ambiguous genitalia

Question 14

what is pathognomonic for late onset CAH?

Answer 14

elevated 17-OH progesterone

Question 15

how does patients present with late onset CAH?

Answer 15

• premature adrenarche
• anovulation
• hyperandrogenism

Question 16

what are the main goals of treatment for precocious puberty?

Answer 16

• arrest and diminish sexual maturation until a normal pubertal age and to maximize adult height
• GnRH agonists are used in GnRH dependent precocious puberty
• suppression of gonadal steroidogenesis is the treatment for GnRH independent PP

Question 17

what is the treatment for precocious puberty?

Answer 17

GnRH agonists (ex leuprolide)

Question 18

what is the most useful test in the evaluation of premature development?

Answer 18

bone age

Question 19

what are the labs for precocious puberty?

Answer 19

• vaginal smear
• LH, FSH, estradiol, DHEA, TSH, 17-OHP
• CT or MRI of brain with contrast
• US for ovarian masses

Question 20

early puberty puts girls at risk for what condition later in life?

Answer 20

breast cancer

Question 21

when is puberty considered delayed for girls?

Answer 21

• when secondary sex characteristics have not appeared by age 13
• no evidence of menarche at 15-16
• or when menses have not begun 5 years after onset of thelarche

Question 22

what is the most common cause of delayed puberty with an elevated FSH? which disease?

Answer 22

hypergonadotropic hypogonadism

turner syndrome (45 X,O)

Question 23

what is the treatment for hypergonadotropic hypogonadism?

Answer 23

• GH early to normalize adult height

- estrogen initiated at normal time of puberty

Question 24

progestins should not be given for hypergonadotropic hypogonadism until what tanner stage?

Answer 24

IV

Question 25

definition: hypogonadotropic hypogonadism what are the FSH and LH levels?

Answer 25

- delay in sexual development or menses associated with low to normal levels - constitutional delay - most common low to normal FSH and LH levels

Question 26

what is the most common tumor associated with delayed puberty?

Answer 26

craniopharygioma

Question 27

what are the sequalae of kallman syndrome?

Answer 27

- olfactory tracts are hypoplastic | - arcuate nucleus of hypothalamus does not secrete GnRH (no breast development)

Question 28

what is the most common cause of primary amenorrhea in women with normal breast development?

Answer 28

mullerian agenesis

Question 29

what is mayer-rokitansky-kuster-hauser syndrome? what does it involve?

Answer 29

aka mullerian agenesis - congenital absence of vagina, and probably also uterine and fallopian tubes - ovarian function normal

Question 30

what is the simplest genital tract abnormality?

Answer 30

imperforate hymen

Question 31

what is the treatment for delayed puberty?

Answer 31

- reassurance - treat underlying cause - possible estrogen / progesterone / GH

Question 32

tanner stage 1

Answer 32

elevation of nipple only

Question 33

tanner stage 2

Answer 33

elevation of breast and papilla as a small mound, enlargement of areolar diameter

Question 34

tanner stage 3

Answer 34

further enlargement of breast and areola with no separation of contours

Question 35

tanner stage 4

Answer 35

further enlargement with projection of areola and papilla to form a secondary mound above the level of the breast

Question 36

tanner stage 5

Answer 36

projection of papilla only, resulting from recession of the areola to the general contour of the breast

Question 37

elevation of nipple only

Answer 37

tanner stage 1

Question 38

elevation of breast and papilla as a small mound, enlargement of areolar diameter

Answer 38

tanner stage 2

Question 39

further enlargement of breast and areola with no separation of contours

Answer 39

tanner stage 3

Question 40

further enlargement with projection of areola and papilla to form a secondary mound above the level of the breast

Answer 40

tanner stage 4

Question 41

projection of papilla only, resulting from recession of the areola to the general contour of the breast

Answer 41

tanner stage 5