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ER Week 4 > Puberty and Sexual Dysmorphism > Flashcards

Puberty and Sexual Dysmorphism Flashcards

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1
Q

Describe the mini-puberty of infancy.

A

a 6-8 week period right after birth when the hypothalamic-pituitary-gonadal axis is biologically active with sex steroid levels rising, but no peripheral effects

biological relevance is unknown

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2
Q

The long period pf pre-puberty is mediated by what?

A

HPG axis suppression

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3
Q

When the suppression is released, puberty begins. What is the general underlying endocrinology?

A
  1. increase in activity of adrenal gland - more steorids
  2. increase in pulsatile GnRH and FSH/LH secretion
  3. Corresponding increase in estrogen in females and testosterone in males
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4
Q

Mitosis occurs in puberty in which gender?

A

males - in spermatogonia

there is no/very little mitosis of oogonia after birth

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5
Q

Describe how the steroids pulse during puberty?

A

only at night - not during the day (this is different from reproductive and postmenopausal period, when there is pulsing thorugh the day and night)

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6
Q

True or false: the pubertal diurnal and pulsatile secreiton of GnRH and LH/FSH that stimulates steroiodogenesis of gonads and mautration of HPG axis requires the presence of the gonads

A

false - doesn’t require the gonads

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7
Q

What are the phenotypic changes in puberty?

A

axial growth
secondary sex organs
gender specific and nongender specific hair growth
central processing alterations due to dentral pathway remodeling (impaired judgement0
vocal cord thickening
menarche
libido increase

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8
Q

What is adrenarche

A

pubic hair growth

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9
Q

Pubic hair growth is largely due tot he development of what hormone?

A

development of the adrenal zona reticularis and subsequent production of androstenedione and dihydoepiandrosterone

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10
Q

What is thelarche?

A

breast development due to increaseing estrogens

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11
Q

What is gonadarche?

A

production of ovarian hormones and mature gametes

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12
Q

What is mecharche

A

menses - uterine response to ovarian hormones

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13
Q

Describe the tanner staging in boys based on external genitalia?

A

1 - prepubertal
2 - enlargement of scrotum and testes; scrotum skin reddens
3 - enlargement of penis (length), further growth of testes
4 - increased size of penis with growth in breadth and development of glans, testes and scrotum larger, scrotum skin darker
5 - adult genitalia

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14
Q

Describe the tanner staging in girls based on breast development.

A

stage 1 - prepubertal
2 - breast bud stage with elevation of breast an dpapilla, enlargement of areola
3 - further enlargement fo breast and areola but no separation of their countour
4 - areola and papilla form a secondary mound above level of the breast
5 - mature stage - projection of papilla only related to recession of areola

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15
Q

Describe the Tanner staging based on pubic hair.

A

stage 1 - prepubertal (velus similar to abdominal wall)
stage 2 - sparse growth of long slightly pigemnted hair, stright or curled at base of penis or along labia
stage 3 - darker, coarser and more curled hair, spreading sparsely over junction of pubes
stage 4 - hair adult in type, but covering smaller area than in adult, no spread to medial surface of thighs
stage 5 - adult in type and quantity, with horizontal distribution

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16
Q

WHen does growth velocity peak in girls?

A

between 11 and 12

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17
Q

When does breast development begin in girls on average?

A

age 10

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18
Q

WHen does menarche occur on average?

A

age 12

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19
Q

When does completion of puberty occur in girls on average?

A

14

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20
Q

Why does growth stop at the end of puberty?

A

high estrogen closes the growth plate

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21
Q

When does the peak growth time happen in ales?

A

age 13-14

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22
Q

When can you start seeing an increase in testicular volume?

A

11-12

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23
Q

When does pubic hair start in males?

A

age 12

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24
Q

When can you start to see semen in the urine?

A

age 14-15

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25
Q

When does puberty end in males?

A

15-16

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26
Q

Puberty is occurring earlier and earlier. What is the likely cause?

A

nutrition - sheer availability of calories

higher BMI or higher height - the earlier the onset

27
Q

What are the two versions of precocious puberty?

A

gonadotropin dependent precocious puberty

or independent

28
Q

What are the two generally causes of gonadotropin dependent precocious puberty?

A

80% are idiopathic
20% are CNS-related: hypothalamic hamartomas, CNS tumors, cranial irradiation, hydrocephalus and trauma (things that would stimulate hormone production)

29
Q

What are some causes of GIPP in girls only?

A

ovarian cysts

ovarian tumors

30
Q

What ar esome cuases of GIPP in males only?

A

leydig cell tumors, germ cell tumors,

31
Q

What are some causes of GIPP in both genders?

A

exogenous estrogen
adrenal pathology with excess androgen
pituitary tumors

32
Q

What would be the endocrine effects of GDPP?

A

pulsatile GnRH
increased LH and FSH to a lesser extent
increased sex steroid output

33
Q

What are some of the signs of GIPP?

A

virilization

bone age older than chronological age

34
Q

Displays od adrenarche too early can suggest what?

A

tumors of the adrenal gland

congenital drenal hyperplasia

35
Q

What is the relationship to the prepubertal bone plates and E2?

A

low levels increase growth

high levels promote closure

36
Q

So are precious puberty kids short or tall?

A

short

37
Q

What two lab tests can we do to diagnose precocious puberty?

A

GnRH analog stimulation test

random LH screening test

38
Q

What would hte GnRH stimulation test show in GDPP?

A

FSH and LH will be increase

39
Q

What would that GnRH stimulation test show in GIPP?

A

FSH and LH not increased

40
Q

Random high LH screening would suggest which?

A

central precocious puberty - GDPP (I think)

41
Q

What is the differenc between premature thelarche and precocious puberty?

A

premature thelarche happens in 6 mo - 2 yo and involve only the breast

precocious puberty happens 5-8 yo and will include thelarche plus another puberty change

42
Q

What are the treatment options for treatment of GDPP?

A

drugs for medical castration:

GnRH agonists (nonpulsatile) or antagonists

Anti-estrogens/anti-androgens

Glucocorticoids in the case of CAH (depending on the enzyme deficiency)

43
Q

What are the three general sexual dimorphism determinants?

A

sex chromosome makeup

gonadal sexual differentiation (in utero)

phenotypic manifestation during fetal stages and puberty

44
Q

What are some general causes of sexual ambiguity?

A
  1. mutatiosn in hormone production, receptors, signaling
  2. hypogonadism
  3. sex chromosomes loss
  4. mosaicism from embryological events like chromosomal loss
45
Q

What is necessary for male gonadal differentiation?

A

sex determining region of the Y chromosome - SRY protein

note that the default is female

46
Q

What happens to the mullerian duct in females and male?

A

female - develops into reproductive organs

male - degenerates due to anti-mullerian hormone

47
Q

What happens to the Wolffian duct in females and males?

A

females - degenerates

males - converts to seminal vesicle, vas deferens ,epididymis under the influence of testosterone

48
Q

What is another name for SRY protein

A

testis-determining factor

49
Q

What are three hormonal causes of sexual ambiguity?

A

congenital adrenal hyperplasia

androgen insensitivity syndrome

5-alpha reductase deficiency syndrome

50
Q

What is the most common CAH enzyme deficiency?

A

cyp 21 hydroxylase

51
Q

What is the second most common CAH enzyme deficiency?

A

11 beta-hyddroxylase

52
Q

What are some other enzymes that can be deficiency?

A

Cyp11A1 - side chain cleavage enzyme

17alpha hydroxylase

17beta hydroxylase

3beta hydroxysteroid dehydrogenase

53
Q

What three hormone deficiencies would cause both CAH and low testosterone?

A

side chain cleavage enzyme

3beta hydroxysteroid dehydrogenase deficiency

17alpha hydroxylase deficiency

54
Q

What enzyme deficiency would just cause a decrease in testosterone?

A

17-beta hydroxylase deficiency

55
Q

What should you do for someone with these?

A

supplement testosterone at puerty

56
Q

What cells make the mullerian inhibitin substance?

A

the sertoli cells

57
Q

What are the three enzyme deficiencies that can results in congenital adrenal hyperplasia and viriliation of females?

A

21 hydroxylase deficiency
11 alpha hydroxylase deficiency
3beta hydroxysteroid dehydrogenase deficiency

58
Q

What happnes in androgen insensitivty syndrome?

A

androgen receptor mutation such that XY babies develop as phenotypical “super” females without menses

inguinal, abdominal, or labial testes and external genitalia female

59
Q

ow is androgen insensitivty syndrome inherited?

A

x-linked

60
Q

5 lapha reductase deficiency leads to what?

A

babies classified as girls at birth, but start developing male characteristics at puberty

61
Q

XO is what?

A

turner syndrome

62
Q

XXY is what/

A

kleinfelters

63
Q

What is the penotype in turner syndrome?

A

gonadal streaks
no androgens or estrogen
female external genitalia
but no real breast development

ER Week 4 (15 decks)

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