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1
Q

Which type of adrenal insufficiency more likely to have mineralocorticoid deficiency, primary or secondary?

A

primary more likely to have mineralocorticoid deficiency
Primary also have increased ACTH level (and remember how it leads to hyper pigmentation) , abnormality is of the adrenal gland
secondary - hypothalamic or pituitary dysfunction, low cortisol with inappropriately normal or low ACTH, normal mineralocorticoid production (therefore less likely to have electrolyte abnormalities and hypovolemia)

2
Q

Ddx of primary adrenal insufficiency

A
  1. enzymatic defects: CAH, congenital adrenal hypoplasia
  2. autoimmune disease - autoimmune polyendocrinopathy syndromes (APS I and II), Schmidt
  3. infectius disease: TB, meningococcemia, disseminated fungal infections
  4. trauma: bilteral adrenal hemorrhage
  5. adrenal hypoplasia
  6. iatrogenic - exogenous steroids
3
Q

Most common causes of secondary adrenal insufficiency?

A

hypothalamic/pituitary poor development - timor, CNS trauma, irradiation, infection or surgery

4
Q

congenital adrenal hyperplasia - most common mutation

A

21 hydroxylase deficiency most common and partial forms
equal in males and females
late onset form - in teens with hirsutism and menstrual irregularities
girls more likely to be diagnosed early since they will have ambiguous genitalia (whereas male will have normal male genitalia)

5
Q

What is the recommended physiologic and stress dosing of oral hydrocortisone?

A

physiologic: 12-15 mg/m2/24 hours
stress dosing: 50-100 mg/m2 /24 horus of hydrocortisone
doses >50 mg/m2/24 hours are generally pharmacologic doses (not used for adrenal replacement or stress dosing

6
Q

How long of using steroids is likely to cause adrenal insufficiency?

A

> 30 days high risk of prolonged or permanent adrenal suppression
vs <10 days relatively low risk

7
Q

Causes of hypercalcemia

A

high 5 Is

  1. H- hyperparathyroidism - familial, isolated, syndromic
  2. Idiopathic - Williams syndrome (also have SV AS and pulmonary artery stenosis)
  3. Infantile - subcutaneous fat necrosis, maternal hypoPTH
  4. Infection - TB
  5. Infiltration - malignancy, sarcoidosis
  6. Ingestion - milk-alkali, thiazide diuretics, vitamin A, vitamin D
  7. S - skeletal disorders - hypophosphatasia, immobilization, skeletal dysplasia
8
Q

menarchal 9 year old, parents are concerned about her height, which investigation to do?

A

bone age will help predict adult height (but we know it is likely advanced if she has her period)
once people have their period we tell them they will grow another 5 cm and you will grow for another 2 years

9
Q

Short stature

A

decide if normal variant or pathologic (based on growth velocity and target height) normal growth velocity is 5 cm/year
if normal - then familial short stature or constitutional delay (should have delayed bone age for constitutional)
pathologic: proportionate (prenatal (IUGR, dysmorphic syndromes, chromosomal disorders) /postnatal (meds)and disporportionate

10
Q

how to do upper and lower segment to see if proportionate

A

lower is symphysis pubis to ground, subtract this from height
check for scoliosis
can also do sitting height (takes the legs out of the equation)
if disproportionate then think of skeletal dysplasia

11
Q

Shown a growth curve of kid tracking along the 3rd percentile, what is it? target mid parental height is at that percentile
normal growth velocity
tracking towards the mid parental height

A

familial short stature

12
Q

Shown kid who is older than his little sister, way below the curve, velocity is low, way below target height?
abnormal

A

had micropenis, was treated with testosterone (known to stunt height)
IGF1 level was low, got a GH stim test
good response to growth hormone

13
Q

Any time you diagnose growth hormone deficiency, need to do MRI of the head!!!

A

MRI head - can show ectopic posterior pituitary, anterior pituitary and stalk not seen
sella turcica is where the posterior pituitary gland sits
don’t start growth hormone if you think of mass (high suspicion)

14
Q

Side effects of growth hormone treatment

A
  1. SCFE

2. headaches - can get pseudotumor

15
Q

Investigations for short stature - if doesn’t look like normal variant, then what endo does:

A
poor growth velocity and short stature
endocrine screen:
TSH, free t4 (to rule out central cause - remember that you are not ruling out central cause with TSH)
Growth hormone - IGF1 (have to pay in outside lab)
o
Find: FSH/LH
The :  TSH
Adenoma: ACTH - likely will do cortisol
Prolactin 

Posterior pituitary: ADH and oxytocin
check sodium

Chronic disease work up also: CBC diff, lytes, BUN/Cr, ALT, bill, ESR (controversial)

16
Q

Approach to delayed puberty - 1st test to do

A

FSH/LH - tells you if central vs. peripheral
if peripheral then looks almost menopausal, the FSH/LH is trying to catch up
low (central) - constitutional delay of growth and puberty, hypothalamic or pituitary cause
high (peripheral) - gonadal failure

17
Q

14 year old girl without any signs of puberty

A

definition of normal puberty -
girls: age 8-13 is normal time to have puberty
boys: 9-14 is normal time
growth - started off at 50th percentile now is falling off , growth velocity is abnormal
way below the mid parental height , bone age is delayed
whenever you have a short girl with no puberty - think of Turners
follows the Turner curve perfectly

18
Q

normal pre-pubertal growth velocity

A

5 cm /year
post puberty it gets way more complicated
turner’s bone age is only delayed in puberty (not in pre-puberty)
hypothyroidism should have delayed bone age

19
Q

features of turner

A
shot stature
epicanthic folds, ptosis
high arched palate
micrognathia
lowest ears, malformed ear lobes
recurrent OM, auditory problems
low posterio hairline
short, webbed neck
shield chest, widely spaced nipples
renal malformations
streak ovaries, primary amenorrhea
cubitus valgus 
lymphedema at birth
short fourth metacarpal
pigmental nevi
20
Q

If waiting for Turner’s and waiting for karyotype, then what test can you do?

A

FSH is often very high even when young (i.e. 8 or something)

21
Q

15 year old boy, no puberty (just a bit of pubic hair)

FSH/LH is high

A

gonadal problem
#1- Klinefelter most common - do karyotype XXY
other: mumps, testicular torsion, leukaemia treatment etc

22
Q

15 year old boy, no puberty (just a bit of pubic hair)

FSH/LH are low, what should you ask ? sense of smell

A

Kallman’s
don’t have sense of smell, so need to ask about it
has to do with the migration of the neurons
LH/RH stimulation test - GnRH stimulation test - try to give GnRH if body hasn’t seen it before it will be a flat response, LH/FSH won’t go up
treat with testosterone
testes won’t grow, HCG can help them grow a bit, but they work

23
Q

14 year old boy, no puberty, strong family history of constitutional delay, gonadotropins are low, delayed bone age

A

exaggerated constitutional delay
can sometimes do testosterone injections, give them some of the early features of puberty (including a growth spurt), give for 6 months (low dose), then stop it, take over where you left off
does not impact final adult height

24
Q

Precocious puberty approach - benign variant or real thing

A

normal growth velocity and bone age - normal variant
estrogen - breasts and uterine lining changes ->thelarche
androgen - acne, hair, body odor ->premature adrenarche
increased growth velocity - pathological
advanced bone age - pathological

25
Q

premature thelarche what age

A

usually around 18 months - can stay till age 3
need to make sure have normal growth velocity and normal bone age and don’t need to refer if these are okay
if have increased growth velocity or advanced bone age then:
GnRH stim test - to see what the deal with LH/FSH is (is it central or peripheral) ; pubertal response or pre-pubertal response - if LH is >10 then pubertal response (true central puberty), if flat (LH 1-2) then need to look elsewhere to look for where the estrogen is coming from

26
Q

premature adrenarche

A

usually around age 5
in some kids, can get adrenarche first (before age 8) even though in most girls boobs are first
if going to do some investigations:
17OHP for non classic CAH, testosterone (DHEAS)
(FSH/LH not that useful for premature adrenarche)
tanner 2 pubic hair - DHEAS will be that level, the others should be normal

27
Q

fsh/lh levels useful when?

A

useful in delayed puberty

almost useless in precocious puberty

28
Q

6 year old girl with breast development and pubic hair

A

more likely central because both thelarche and adrenarche
has growth acceleration
not typical age for premature thelarche
advanced bone age - follow bone age to figure out the predicted height
will do a LH/RH (GnRH) stim test to confirm that it is central
also will do the pituitary hormone screens
do head imaging next - won’t often find abnormality but need to look
Treatment is Lupron - blocks the pulsatility

29
Q

Side effects of lupron

A

reasons to treat with Lupron
height and psych
give it monthly or triple dose every 3 months
keep going until 11 year old and then take off on their own
sterile abscess - at injection site - can’t give it to them will be worse if you give more, then need to give sc daily
some weight gain
treat girls before age 6 for sure for precocious puberty, not as clear for 6-8 year old

30
Q

6 year old boy with precocious puberty

A

most important is testicular size
look for peripheral cause
do testosterone, DHEAS, 17OHP, androstenedione
growth acceleration

31
Q

Most common CAH

A

21 hydroxylase deficiency
remember that it is a spectrum of disease
get shunting of the hormones to the testosterone (androgen pathway)
done as a newborn screen - saves the boys

32
Q

Should always check testes in newborn girls because

A

CAH won’t have testes but otherwise might look like a boy

33
Q

Disorders of Sex Differentiation

A

congenital conditions in which development of chromosomal, gonadal or anatomical sex is atypical

34
Q

46 XY DSD

A

chromosomes are male
something about the individual is not male
undervirilized male (so not as much androgen effect)

35
Q

46 XX DSD

A

overvirilized XX female (old language)

36
Q

ovotesticular DSD (usually XX)

A

not just your chromosomes determine what sex you are

37
Q

term to use

A

genital tubercle

labiascrotal folds

38
Q

website for families

A

www.sickkids.ca/childphysiology/cpwp/genital/genitaldevelopment

39
Q

What is DHT

A

the potent androgen in fetal development, if issue with the conversion to DHT can cause lots of problems

40
Q

Approach to ambiguous genitalia

are gonads palpable or not?

A

No
- probable 46 XXDSD (ie CAH) or maternal/fetoplacental issues (in utero)
Unilateral - hypospadias, ovotesticular DSD, mixed gonadal dysenesis
Bilateral - 46 XYDSD -
hormonal - not making enough testosterone, not respond (androgen insensitivity), enzyme problem (5alpha reductase)
or hypospadias

**if you can feel testes most likely XY

41
Q

46 XY DSD - can they make testosterone - do a hCG stim test to find out

A

if hcg stim test positive then ratio of T/DHT - if normal then AIS if >30 then 5 alpha reductase def

if they don’t respond to the hcg stim test then testosterone synthesis defect

there is complete AIS and partial
if undervirilized then may not produce anything unless you stimulate

42
Q

factors that affect gender assignment

A
diagnosis
genital appearance
surgical options
need for life long replacement
potential for fertility
view of the family and cultural practices
43
Q
  1. Child with micropenis. Best test to determine sex of rearing
    a. Y chromosome
    b. testosterone level
    c. hypospadias
    d. palpable gonads
    e. size of phallus
A

dr. gold bloom says palpable gonads is the best answer

44
Q

hypocalcemia with PTH high

A

vitamin D related - 7 dehydrocholesterol - vitamin D-25 OH vitamin D - 1,25 OH D3 - receptor
liver, renal, 1 alpha OH deficiency, resistance
not vitamin D - GI/Renal losses ( urine Ca)

45
Q

hypocalcemia with PTH low (high PO4)

A

hypoparathyroidism (inappropriate)

46
Q

hypocalcemia

A

ALP, urine calcium

remember that nomal PTH may be inappropriately normal in the face of hypocalcemia

47
Q

hypocalcemia treatment - depends on where the problem was

A

PTH deficiency - treat with calcium, calcitriol (activated vitamin D) and possibly Mg
vitamin D deficiency - give them vitamin D plus enough Ca in diet
if problem with 1 alpha OH deficiency then need to give 1,25 OH (calcitriol) since they can’t convert it themselves

48
Q

if ionized calcium is low (<0.8 mmil)

A

or patient is symptomatic, patient needs IV calcium infusion as follow

49
Q

9 month old presents to ER with choking vs seizure

A

calcium is 0.7 mmol/L

hypocalcemic seizures

50
Q

Ddx of hypoglycaemia

A
  1. endocrine cause
  2. inborn error or metabolism - carb metabolism, FA metabolism, AA metabolism/organic academies
  3. Acquired Disorders
    4.
51
Q

Endocrine causes of hypoglycaemia

A
  1. hyperinsulinism
  2. not enough cortisol - adrenal insufficiency (primary or secondary)
  3. GH deficiency
52
Q

If hypoglycaemic should make ketones

A

if don’t make ketones:

  1. fatty acid oxidation defect
  2. hyperinsulinism

GH only at time of hypoglycaemia - do critical sample

53
Q

things to help

A

ketones? (see above)
glucose requirements (if very high then think of hyperinsulinism)
hepatomegaly - glycogen storage
timing of the hypoglycaemia - fasting or non fasting - FAO more when starving, vs. insulin right after)
growth - GH deficiency

54
Q

most common cause of hypoglycaemia in child >18 months

A

benign ketotic hypoglycemia

55
Q

treatment of hypoglycaemia

A

if alert, treat orally if not work then treat with IV

56
Q

Adrenal insufficiency presentation

A

primary (at the level of the organ) vs secondary (above the organ)
don’t have bronzing with secondary (since won’t have high ACTH)
if at the level of the adrenal gland then won’t have aldo involvement (controlled by RAS), will have more severe hypotension and hyponatremia if primary

57
Q

Critical sample for adrenal insufficiency

A

cortisol, ACTH, lytes, glucose (can get hypoglycaemia)

renin

58
Q

Treatment of adrenal insufficiency

A
  1. steroids - hydrocortisone 50-100/m2 has some mineralocorticoid and glucocorticoid effect so don’t need fluorine yet *want to give enough to replace but not so much that it messes up growth
  2. fluid - restore volume and Na appropriately
  3. sugar
  4. support
  5. search - for aetiology of crisis
  6. Stress coverage - mild illness double, fever/vomiting - triple dose, unable to tolerate orally - solucortef IM or IV
59
Q

What is used to determine the initial dose of thyroid hormone replacement in lymphocytic thyroiditis?

A

TSH is the best likely
although often do do a weight based dosing initially
primary problem at the level of the thyroid gland therefore the other ones aren’t reliable - need to depend on TSH

60
Q
  1. Which is an indication of delayed puberty?
    a. 15 yo girl with amenorrhea
    b. 12 yo girl with no axillary hair
    c. 13 yo boy with no public hair
    d. 15 yo boy with no voice change
A

voice change?

they are all wrong

61
Q

types of diabetes

A
1
2
3 mody - autosomal dominant 
4 CF related diabetes
5. secondary diabetes 

3 generations of diabetes without classic features of type i or 2 then reasonable to test for MODY, advantage they can sometimes be managed with sulfonylurea

62
Q

Diabetes development

A

much quicker in kids, can end up on insulin very quickly
doses of insulin go way up in puberty
health of the beta cells determines what happens

63
Q

consider T2Dm when

A

BMI >85, high risk ethnic, exposure to diabetes in utero, fhb of type 2, clinical features of insulin resistance, children on psychotropic meds

64
Q

insulin resistance

A
waist circumference (measure in oske at umbilicus) 
acanthosis nigricans
65
Q

PCOS

A

irregular menses
clinical or biochemical signs of increased androgen

30% of women with PCOS will have IGT or T2DM by the 3rd decade of life
don’t use U/S for PCOS diagnosis

66
Q

DM

A

family history more in type 2
ethnic more likely type 2
acanthosis type 2
age older Type 2 (13-15) 8-19 for type 1

67
Q

to tell between type 1 and 2

A

c peptide (high or normal in type 2) and antibodies (present in type 1)

68
Q

classification of diabetes

A

fasting blood sugar 6-7, but 2 hour is normal (<7.8) - impaired fasting glucose
fasting blood sugar is normal, but 2 hour between 7.8-11 : impaired glucose tolerance
everything else is diabetes !!

69
Q

kids with fasting blood sugar every 2 years

A

> 3 risk factors in no pubertal or 2 risk factors in pubertal
obesity, member of high risk ethnic group, FHx of T2Dm and/or exposure to diabetes in utero, signs/symptoms of insulin resistance , IFG or IGt or use of anti-psychotic medications/atypical neuroleptics
OGTT if BMI>99th or multiple risk factors

70
Q

based on HgA1c treatment

A

M9% metformin, >9% insulin
metformin start at 250 then increase
insulin can likely get by with once/day insulin, also some pre mixed options
type 2 - start to monitor for complications right away, more likely to have them early on
CDI guidelines - read them

71
Q

type 1 diabetes

A

prevalence 0.4% of individuals <18 years

increased risk with family members sibling 5% father 6-8% mother 2-3 % identical twin 30-50%

72
Q

Etiology

A

viral, mild protein, others

beta cells die over time

73
Q

target ranges of sugar for different ages

A

age <5 year old - pre meal 6-10
6-12 4-10
13-18 4-7

74
Q

DKA

A

decreased by 2-3 mmol/H for Na

75
Q

hyperglycemic hypoerosmolar syndrome

A

severe hyperglycemia
high osmoses
absence of ketones - HCO3 >15 mmol/L, urine ketones negative or trace
mostly a fluid deficit - this is how the treatment differs
wait several hours before insulin
start insulin at lower rate

76
Q

type 1 diabetes

A

when you are sick don’t stop insulin
how much extra they need depends on total daily insulin
blood glucose 2-4 hours, urine/blood ketones q2-4 hours (if sugar >14), never omit insulin
reduce the doses if they are not eating much
if high then give extra depending on ketones
TDD - add all the types up
TDD 12+ +4+8 - 30 units
therefore need an extra 20% at that moment

77
Q

surgical abdomen T1DM what to do

A

emergenc surgery
check glucose, acid base status, correct hyperglycaemia
IV fluids with dextrose and insulin infusion is generally what we do (0.02 units/kg/hour)
titrate it downward)

78
Q

diabetes

A

exercise - either need to cut down on insulin or increase food
depends on timing