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Week 1 SEM 4 > 3. Puberty and its disorders > Flashcards

3. Puberty and its disorders Flashcards

1
Q

What is puberty?

A

Going from non-repro state to repro state
Males: testicular volume more than 4ml
Females: breast development

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2
Q

What is the order of puberty development?

A

Adrenarche, Pubarche, Gonadarche

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3
Q

In adrenarche, where are adrenal androgens secreted from?

A

Zona reticularis (not apparent in neonates- layer only comes up when adrenarche occurs)

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4
Q

What is released in adrenarche?

A

dehydro-epiandrosterone (DHEA)

dehydro-epiandrosterone sulphate (DHEAS)

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5
Q

At what age does DHEA/DHEAS peak?

A

gradual increase from 6-15, peaks from 20-25, declines after 25 (called adrenopause)

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6
Q

What happens in pubarche?

A

axillary and pubic hair

increase sebum production= acne

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7
Q

At what age in boys and girls is it precocious puberty?

A

Girls: before 8
Boys: before 9-10

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8
Q

When does Gonadarche start?

A

around 11 years of age (4-5 years after adrenarche)

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9
Q

what is gonadarche?

A

Reactivation of the HPG axis

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10
Q

When is the HPG axis first activated?

A

16th gestational week
pulsatile GnRH secretion continues until 1-2 weeks postnatally
then stops
reactivates at 11 years of age

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11
Q

What is the pattern of GnRH througout puberty?

A 
prepuberty= low GnRH levels
early/mid= nocturnal GnRH rise
mid/late= pulsatile GnRH consistent
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12
Q

What percentage of body fat do you need to go to puberty?

A

17%-18%

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13
Q

What percentage of body fat do you need to maintain menstrual cycle?

A

22%

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14
Q

What can stop you going into puberty?

A

inactivating mutation in kisspeptin peptide or receptor

if activation mutation in kisspeptin receptor= PRECOCIOUS PUBERTY

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15
Q

What is consonance?

A

smooth ordered progression of changes in puberty

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16
Q

What is the order of puberty in females?

A
  1. breast budding
  2. pubic hair growth
  3. peak height spurt
  4. menarche (the first occurrence of menstruation)
  5. pubic hair reaches adult stage
  6. breast reaches adult stage
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17
Q

What is the order of puberty in males?

A
  1. testicular volume more than 4mm
  2. pubic hair growth
  3. peak height spurt
  4. genitalia reach adult stage
  5. pubic hair reaches adult stage
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18
Q

What scale can we use to measure puberty?

A

Tanner scale (stages 1 to 5) - stage 2 (early puberty) stage 4 (latepuberty)

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19
Q

What does the tanner scale measure?

A

breast development
distribution of pubic hair
genital development

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20
Q

What are the physical changes in puberty in females?

A

thelarche (breast enlarge)= sign of E2 activity
pubic/axillary hair
uterus enlargement
peak height growth at 12 yrs
hips widen
HPG axis reawaken= increase ovarian volume and follicular growth
menarche (first period)

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21
Q

What is the peak height velocity in girls?

A

9cm/year

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22
Q

When is fertility attained for females?

A

NOT AT PUBERTY- only at tanner stage 4

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23
Q

What are the physical changes in boys in puberty?

A 
increase in external genitalia
penis growth
scrotum growth (and skin changes)
reproduction tract matures
larynx enlargement (bc of androgens)= voice deepen
pubic/axillary hair
peak height spurt- 14 years of age
shoulders broaden
24
Q

What is used to measure testicular volume?

A

prader orchidometer- looks like bead on string- beads are compared to testicles on palpation

25
Q

When do males become fertile?

A

At the beginning of puberty

26
Q

What is the growth spurt an interaction of? (of which hormones)

A

GH and Oestrogen

27
Q

How does oestrogen act for growth spurt?

A

biphasic

  1. low oestrogen- linear bone growth and maturation
  2. high oestrogen epiphyseal bones fusion
28
Q

When does the growth spurt occur?

A

During the reactivation of the HPG axis

29
Q

What is a piloseabceuous unit?

A

unit of hair follicle with sebaceous glands

30
Q

What is a sebaceous pilosebaceous units?

A

increased sebum= so can get acne = under the influence of androgens

31
Q

What is vellus pilosebaceous units and what are the 2 types?

A

terminal PSU- moustache and beard hair

apo PSU-these go on to form axillary and pubic hair

32
Q

What is central precocious puberty?

A

When puberty happens before 8 in girls and before 9 in boys but still in consonance (in correct order)

33
Q

What are the 2 types of precocious puberties?

A

Gonadotropin dependent (central) or Gonadotropin independent

34
Q

What is central/gonadotropin dependent precocious puberty?

A

excess GnRH secretion

Excess LH/FSH secretion (pituitary tumour)

35
Q

What are examples of gonadotropin independent precocious puberty?

A

Testoxicosis
McCune Albright Syndrome
Sex steroid secreting tumour
Pseudo-precocious puberty

36
Q

What is Testoxicosis?

A 
LH mutation receptor
increase androgen
FSH receptor not activated
early virilisation
no spermatogenesis
37
Q

What is McCune Albright syndrome?

A

adenylyl cyclase enzyme is activated
gonadotropin receptors are activated (bc LH/FSH are Gs)
cafe au lait skin pigment bc melanin 1 corticoreceptor is hyperactivated
fibrous dysplasia

38
Q

What is pseudo-precocious puberty?

A

premature adrenarche and pubarche
pubic hair
can also have congenital adrenal hyperplasia

39
Q

What is congenital adrenal hyperplasia?

A 
21 hydroxylase problem
it converts progestogens to mineralcorticoids and glucorticoids
mutation=so no happen anymore
so androgens accumulate
virilisation of genitalia
40
Q

What is pubertal delay?

A

no secondary characteristics by 13 in girls and 14 in boys

or no menarche (period) by 18 yrs old

41
Q

What is hypogonadotropic hypogonadism?

A

low LH , FSH

42
Q

Give an example of hypogonadotropic hypogonadism

A

Kallman’s syndrome, hypopituitary

43
Q

What is kallman’s syndrome?

A

GnRH neurone migration regulated by KAL gene
KAL mutated
GnRH neurones now not function
So LOW LH,FSH

44
Q

What is hypopituitarism?

A

god knows lol

45
Q

What is hypergonadotropic hypogonadism?

A

High LH and FSH
problem at gonadal level
so no negative feedback to reduce LH, FSH

46
Q

What do you get as a result of hypergonadotropic hypogonadism?

A

gonadal dysgenesis

low Sex steroid levels

47
Q

What is kleinfelter’s syndrome?

A

extra X (XXY)= MALES
low oestrogen= long arms/legs
small testicular size
pubic hair female pattern

48
Q

What is turner’s syndrome?

A

Lack of X chromosome (XO)= FEMALES
Streak ovaries- underdeveloped
short
webneck

49
Q

Why can we not measure GnRH and what do we use instead to see how GnRH is being released?

A

can’t enter hypophyseal circulation

use LH to see GnRH secretions

50
Q

When do people show reduced response to GnRH?

A

anorexia nervosa, intense physical exercise= less gonadotropin levels= periods stop (amenorrheoa)

51
Q

Who reaches growth spurt earlier and by how many years?

A

girls by 2 years

52
Q

How do we measure sexual development?

A
  1. Auxology =measure height, body proportions, weight and how they all come together
  2. pubertal staging - tanner scale or orchidometer
  3. DEXA scan= bone age
  4. LH, FSH and sex steroid measurements= tells if HPG axis has been re-awakened or there is an isolated increase in one of them.
  5. adrenal steroids if CAH is suspected or a tumour
  6. MRI of hypothalamic-pituitary area
53
Q

What is constitutional delay?

A

type of pubertal delay= HPG axis not reactivated

54
Q

How do you treat precocious sexual development?

A
  • > Anti-androgens can be used for premature adrenarche
  • > A 5a-reductase inhibitor for something like testotoxicosis to stop virilisation of external genitalia
  • > Aromatase inhibitor to stop oestrodiol and oestrogen production
  • > Use long-acting GnRH analogue in central precocious puberty to down-regulate HPG axis and stop pubertal processes from continuing
55
Q

What are psychological changes in puberty?

A

Increasing need for independence

Increasing sexual awareness/interest

Development of sexual personality

56
Q

What is Hypothalamic hamartoma?

A

Found in 33% of patients with central precocious puberty.
non-physiological secretion of GnRH.
mostly benign

Week 1 SEM 4 (7 decks)

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