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Phase 3a > Puberty > Flashcards

Puberty Flashcards

1
Q

what is the definition of premature puberty

A

development of secondary sexual characteristics before 8y (female) and 9y (male)

aka precoucious puberty

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2
Q

what are the two types of precoucius puberty

A

central

periferal

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3
Q

what is central precoucius puberty

A

dependant of gonadotrophins through premature activation of HPG axis

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4
Q

what is periferal precoucius puberty

A

actually pseudo precoucious pubert as there are

normal gonadotrophins

but XS sex steriods

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5
Q

what is the mechanism of central precoucius puberty

A

HPG axis is activated causing an increase in GnRH

Release of FSH and LH causing increase in levels

Activation of gonads causing +in sex hormones

(oestrogen-ovaries or testosterone)

development of secondary sexual characteristics

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6
Q

what is the mechanism of peripheral precoucius puberty

A

HPG axis not activated, no pituitary hormones produced (GnRH, FSH, LH)

so hormones come from gonads or are exogenous

theres increased oestrogen or testosterone causing development of secondary sexual characteristics

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7
Q

what are causes of central precoucius puberty

A

idiopathic

hydrocephalus

hypothyroidism

neurofibromatosis

acquired: -infections, tumours, irradiation

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8
Q

what are causes of periferal precoucius puberty

A

adrenal tumours/ CAH

ovarian tumours

testicular tumours

exogenous sex steriods

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9
Q

how would you manage precoucius puberty

A

treat underlying cause

GnRH analogues = central

androgen/oestrogen blockers = periferal

  • medroxyprogesterone
  • testolactone
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10
Q

what is teh definition of Thelarche

A

development of breast tissue (breast budding)

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11
Q

at what age does thelarche usually occur

A

6m-2y

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12
Q

what is the presentation of thelarche

A

palpable breast tissue with some enlargement of the areola

but no separation between the contours of the two breasts

no pubic hair or growth spurt

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13
Q

what is the definition of Adenarche

A

early pubic hair growth w/o other sexual characteristics

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14
Q

what causes adenarche

A

early maturation of adrenal glands

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15
Q

why is it important to Ix adenarche

A

exclude causes of central precaucious puberty such as adrenal tumours

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16
Q

what Ix would you perform for adenarche

A

US

Urinary steriod profile

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17
Q

what is the treatement of adenarche

A

if theres no central cause then nothing

is benign and self limiting

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18
Q

what is congenital adrenal hyperplasia

A

a number of autosomal recessive disorders resulting in adrenal hyperplasia

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19
Q

what is the pathophysiology of congenital adrenal hyperplasia

A

due to mutations theres a decrease in cortisol en utero

this means the fetal pituitary releases +++ ACTH to try and increase cortisol levels

this causes an overgrowth in adrenal cells

this causes an increasein androgens

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20
Q

what are the two types of patient types in congenital adrenal hyperplasia

A

salt loosers

non salt loosers

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21
Q

what is the infant presentation of salt loosing congenital adrenal hyperplasia

A

vomiting

weight loss

floppy baby due to circulatory collapse

@1-3 weeks

this is an adrenal crisis!!

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22
Q

when do non salt loosing congenital adrenal hyperplasiapatients present

A

at puberty due to precocious puberty

23
Q

what is the classic phenotype of a male in congenital adrenal hyperplasia

A

enlarged and overpigmented penis

precoucous puberty

tall and muscular

24
Q

what is the phenotype of females with congenital adrenal hyperplasia

A

clitoral hypertrophy + vaginal fusion of the labia

muscular build

precoucious puberty

25
Q

how would you diagnose congenital adrenal hyperplasia

A

bloods

  • 21-hydroxylase (-)
  • 17-hydroxyprogesterone (+)

karyotype testing if genitals are ambiguous

26
Q

what Ix would yoou perform in a ?adrenal crisis

A

plasma Na (-)

Plasma K (+)

hypoglycaemia

metabolic acidosis

27
Q

what is the management of a non salt loosing congenital adrenal hyperplasia

A

administer glucocorticoids

+/- reconstructive surgery

28
Q

how do glucocorticoids work in the management of congenital adrenal hyperplasia

A

decrease ACTH so less andorgens

allows for normal growth and maturation

29
Q

what is the management of salt loosing congenital adrenal hyperplasia

A

glucocorticoids = (cortisol replacement)

minaralocorticoids = (aldosterone replacement)

salt suppliments

+/- reconstructive surgery

30
Q

what is the Mx of an adrenal crisis

A

IV saline + dextrose

IV hydrocortisone

31
Q

what can cause disorders of sexual differentiation

A

XS androgens in females (CAH)

inadequate androgen action in males

gonadotrophen insufficiency (prader - willi ie hypopituitarism)

Ovotesticular disorder

32
Q

what are the three ways there can be infficient androgen action

A

androgen insensitivity

inability to convert testosterone to dihydrotestosterone

inability to converst cholesterol to androgens

33
Q

what enzyme converts testosterone > dihydrotestosterone

A

5 alpha reductase

34
Q

what is ovotesticular disorder of sexual differentiation

A

when the karyotype = XXY

both ovarian and testicular tissue is present

often have a complex external phenotype

35
Q

how would you Ix problems of disorder of sexual differentiation

A

karyotype

chromosomal screening

bloods:

  • adrenal hormones
  • sex hormones

US - gonads + otherinternal structures

36
Q

how would you manage disorder of sexual differentiation

A

gender reassignment surgery

gonadectomy

HRT

councelling

  • family
  • individual
37
Q

what are the most common types of hypothalamic tumours

A

hypothalamic glioma

38
Q

what is the Px of a hypothalamic glioma

A

precoucious puberty

failure to thrive

cachexia

euphoric

hyperactive

headaches

IC pressure Sx

visual loss

39
Q

how would you Ix a hypothalamic tumour

A

CT/MRI - head

40
Q

how would you manage hypothalamic umours

A

surgery

+/- adjuvants

41
Q

what is the differentiation of delayed puberty

A

absence of pubertal development by 14 (female) and 15 (male)

42
Q

what are causes of delayed puberty

A

familial

low gonadotrophins

  • systemic: chrons, CF, anorexia
  • Hypothalamo-pituitary disorders: IC tumours, panhypopituitarism

Gonadal problems

    • in GH, FSH, LH, GnRH
  • chromosomal ie turners andkleinfelters
  • aquired gonadal damage
43
Q

what is the Px of delayed puberty

A

short duing childhood

delayed sexual maturation

Delayed skeletal maturation andbne age

longer legs than trunk

44
Q

how would you diagnose delayed puberty in males

A

check testicular volue for pubertal staging

screen for systemic disorders

chech testosterone

chromosomal screen

GnRG stimulation test

45
Q

how would you Ix delayed puberty in females

A

LH, FSH testing

chromosomal screen

TFT

GnRH stimulation test

46
Q

how would you manage delayed puberty

A

often normal = reassurance

BUT

Oxanarolone in boys as doesnt deveop 2ry sex characteristics then testosterone in men

oestrodiol in females

47
Q

what is prader-willi syndrome

A

a generic disorder from deletion of chromosome 15 from father

causing growth, pubertal and neurodevelopmental issues

48
Q

on US you notice a fetus has:

decreased movements

polyhydramnious

is Breech and you beleve the mum will need c section

what is the cause of this

A

prader-willi syndrome

49
Q

what are features of childhood prader-willi syndrome

A

striabasmus

scoliosis

dev delay

50
Q

what are teenage features of prader-willi syndrome

A

+ apetite and weight

short stature

narrowed upper forehead

small hands

OCD like

Hypogonadism

infertility

Hypotonia

51
Q

what is Kallman syndrome

A

a genetic disorder causedby multiple genes

causing hypogonadotrophic hypogonadism

thus preventing a person from reaching full puberty

52
Q

what is the Px of Kallman syndrome

A

lack of testicular development or amenorrhoea

  • gonadotrophins

cleft pallete/lip

cerebra ataxia

total lack of sense of smell!!

2ry osteoporosis + osteopenia

53
Q

how do ou diagnose Kallman syndrome

A

tanner stage testicular checks + penis chechs/ breast/menarch checks

bloods

  • FSH,LH, testosterone, oestrogen, prolactin

GnRh+hCG stimulation test

smell test

54
Q

how would you manage Kallman syndrome

A

oestrogen + progesterone

testosterone

GnRH Pulsatile therapy

Phase 3a (22 decks)

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