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Development > Puberty And Adolescence > Flashcards

Puberty And Adolescence Flashcards

1
Q

how does McCune Albright syndrome present

A

2 of 3:
unilateral cafe au lait spots
polyostotic fibrous displasia (deformity and fractures)
autonomous hypersecretion of hormones at a young age (precocious puberty, hyperprolactinaemia, acromegaly, giantism, cushings, hyperthyroid)

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2
Q

what is the pathological basis for McCune-Albright syndrome

A

a point mutation in the GNAS1 gene which would usually inhibit GTPase activity
this leads to the persistent activation of cAMP- mediated endocrine secretion

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3
Q

which conditions may feature cafe au lait macules

A 
neurofibromatosis 1 and 2
tuberous sclerosis
ataxia telangiectasia
Fanconi's anaemia
MEN 1
McCune Albright syndrome - unilateral, coast of maine
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4
Q

what is the inheritance pattern of congential adrenal hyperplasia

A

autosomal recessive

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5
Q

what is the most common form of CAH

A

21 hydroxylase deficiency
this prevents the production of cortisol (and 80% also aldosterone) leading to the increased production of sex hormones (testosterone)

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6
Q

what is the presentation of CAH

A

virilisation of ext genitals in female infants
enlargement of penis and pgmentation of scrotum in male infants
80% of males are salt losing –> adrenal crisis at 1-3 wks
PRECOCIOUS puberty

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7
Q

how might CAH be detected

A

increased levels of metabolic precursor 17 alpha hydroxyprogesterone in the blood

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8
Q

in salt losing CAH what biochemical abnormalities might you see

A

low plasma sodium
high plasma potassium
metabolic acidosis
hypoglycaemia

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9
Q

what are the causes of precocious puberty

A 
CENTRAL
idiopathic 
secondary
PERIPHERAL
genetic
precocious breast development
virilisation
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10
Q

list some secondary central causes of precocious puberty

A 
CP/hydrocephalus/encephalitis
tumours/masses (CRANIOPHARYNGIOMA, neurofibromatosis [optic nerve glioma] hypothalamic hartoma)
trauma
chronic inflammatory conditions
radiotherapy
sexual abuse
adoption
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11
Q

list 2 genetic peripheral causes of precocious puberty

A

McCune-Albright syndrome

Testotoxicosis

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12
Q

list some conditions with precocious breast development in peripheral causes of precocious puberty

A

premature thelarche
thelarche variant (with increased height velocity +/- cyclical vaginal bleeding)
hypothyroidism (increased TRH)
ovarian cyst

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13
Q

list three virilising peripheral causes of precocious puberty

A

adrenarche
CAH
Cushing’s
adrenal tumours

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14
Q

what is thelarche

A

isolated breast development
no other symptoms of sexual precocity
happens in infants and preschool children

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15
Q

what is the management of premature thelarche

A

usually resolves, just needs follow up

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16
Q

what might investigations of premature thelarche show

A

normal bone age
pre-pubertal pelvic USS
oestradiol undetectable in standard assays
LHRH test pronounced FSH response, low LH

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17
Q

what is adrenarche

A 
adrenal puberty:
acne
BO
pubic and axillary hair
normal genitalia
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18
Q

what might be shown on investigation for adrenarche

A

bone age may be advance by 1 yr (esp if overweight)
17OHP normal
testosterone/oestrodiol normal
DHEAS and androstenedione raised

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19
Q

what is the management of adrenarche

A

explanation and reassurance

association with later PCOS - advise to avoid weight gain

20
Q

who is more likely to go through exaggerated adrenarche

A

girls

Mediterranean/indian/african ethnicity

21
Q

what are the signs of central precocious puberty

A 
onset < 8 years old CONSONANT
progressive breast development
growth spurt
pubic and axillary hair, BO, acne
mood swings
can lead to menarche untreated
22
Q

what would you see on investigation of central precocious puberty

A 
detectable oestriol, LH, FSH
Response to LHRH (LH dominant)
bone age >2 yr advanced
pelvic USS- enlarged ovaries, follicles, endometrial stripe
normal MRI of pituitary
23
Q

what are the difference between central and peripheral causes of precocious puberty

A

CENTRAL: is gonadotrophin dependant and consonant
LHRH >5 LH>FSH

PERIPHERAL
gonadotrophin independant
non-consonant
LHRH < 5 FSH>LH

24
Q

how is central precocious puberty managed

A

GnRH analogue to inhibit LH/FSH secretion which stops at the age of 11-12

25
Q

what is testotoxicosis

A

symmetrical enlargement of the testes
autosomal dominant
due to LH receptor activating mutations

26
Q

what might investigations of peripheral precocious puberty show

A 
detectable oestradiol
LH and FSH undetectable
LHRH testing shows no response
bone age advance by >2 years
pelvic USS may show increased size of ovaries and uterus, follicles and endometrial stripe
27
Q

what is the definition of delayed puberty

A

complete absence of physical signs of puberty by:
13 in females
14 in males

more common in boys

28
Q

what are the main causes of delayed puberty

A

central failure (hypogonadotrophic hypogonadism)
primary gonadal failure (hypergonadotrophic hypogonadism)
hyperprolactinaemia
PCOS
Chronic illness (coeliac, IBD, cyanotic heart disease)

29
Q

what is the most common cause of delayed puberty

A

constitutional delay
often familial
child is short during childhood and has long legs compared to back

30
Q

list some causes of central failure in delayed puberty

A

constitutional delay
structural abnormalities of hte brain (tumours CRANIOPHARYNGIOMA, infiltration, infections)
Kallman’s syndrome (isolated LH and FSH deficiency)
Low BMI/eating disorders/excessive exercise
single gene defects
Prada Willi
Panhypopituitarism

31
Q

list some single gene defects which lead to hypogondaotrophic hypogonadism

A

DAX-1
LHR
FSHR
leptin and leptin R

32
Q

list some of the causes of primary gonadal failure

A 
Klinefelters
XXX females
XO Turner's
Gonadal dysgensis
Testicular/ovarian failure
Androgen insensitivity syndrome
single gene defects
enzyme defects 
chemotherapy
pelvic irradiation
bilateral cryptorchism (uncorrected before 8yrs)
33
Q

list some enzyme defects which might lead to hypergonadotrophic hypogonadism

A

17 alpha hydroxylase
5 alpha reductase
17 ketosteroid reductase

34
Q

what is kallmann’s syndrome

A

isolated gonadotrophin releasing hormone deficiency most commonly due to mutations in the KAL1 gene
affects in 10000 male births

35
Q

what is associated with Kallmann’s syndrome

A

anosmia (KAL1 also codes for ansomin)
occasionally cleft palate
renal agenesis
cerebral abnormalities (colour blindness)

36
Q

what is androgen insensitivity syndrome

A

pts are phenotypically female but genotypically male with male gonadal sex, resulting from insensitivity of tissues to androgens

37
Q

what is the inheritance pattern of AIS

A

X-linked recessive

only 2/3 of AIS is inherited

38
Q

what is puberty

A

physiological sequence of events characterised by:

  • development of 2ndry characteristics
  • acceleration of somatic growth
  • advancement of bone maturation
  • behavioural and psychological changes
39
Q

what is adolescence

A

transition from childhood dependance to adult autonomy

40
Q

how is the onset of puberty triggered

A

in the hypothalamus
begins producing larger quantities of GnRH in a pulsatile manner
this switches on the production and pulsatile release of LH and then FSH (GONADARCHE)

41
Q

what is normal adrenarche

A

activation of the adrenal glands (6-8yrs)
can precede puberty by 1 year
not under the influence of LH/FSH

42
Q

what is require for GH production and also has a permissive action on the tissues for GH

A

thyroid hormone

43
Q

at what age is peak height velocity reached

A

12 yrs in girls (B2-3)

14 yrs in boys (TV 12-15mls)

44
Q

what is non-consonance

A

pathological sequence of development not under the guidance of the HPG axis
often presents with virilisation from the adrenal glands

45
Q

what are the physical signs of Turner’s

A

facial:
- micrognathia (small chin)
- epicanthic folds
- low set ears
- fish-like mouth
- hypertelorism
- ptosis
- strabismus

neck

  • short webbed neck
  • redundant skin folds at back of neck
  • low hairline

chest:
shield like chest with widely space nipples

upperlimb:

  • short fourth metacarpal/metatarsal
  • hyperplastic nails
  • lymphoedema
  • increased carrying angle of elbow
46
Q

what are the physical signs of Klinefeltes’s

A 
soft finely wrinkled hairless facial skin
gyaecomastia
reduced pubic hair
small testes
tall
47
Q

what are the physical signs of Prader Willi disease

A 
constant hunger - weight gain
short stature
hypotonia
learning difficulties
behavioural problems

Development (13 decks)

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