Endocrinology Flashcards
1
Q
Obesity RF:
A
- maternal wt at start of pregnancy
- *pregnancy wt gain
- maternal DM
- *maternal smoking
- IUGR
- *LGA
- genetics= parental obesity (more about genetics than envirn’t alone)
- *Low SES (vs. developing nation more link with high SES)
Protective:
- BF
- higher maternal education
2
Q
2 y.o. chid adopted. T or F: this patient will be obese regardless of bio parents?
A
False.
Will be thin if bio parents thin.
3
Q
Define obesity
A
min. 97th %tile (WHO chart)
4
Q
Name the mnemonic for causes of obesity:
A
The Obesity “GAMET”
- Genetic Syn
- Acquired
- Monogenic
- Endocrine
- Tumour (hypothal)
5
Q
Provide one example of a dx that causes obesity in each GAMET category:
A
GAMET=
- Genetic= abN P/E
> Prader Willi Syn (neo low tone, small hand/feet, IQ, hypogonad)
> Bardet Biedl (polydactyly, hypogonad, retinal)
> Alstorem (DM + eye+ IQ)
- Monogenic (CC in < 6 mo. b/c no satiety)
> MC4R defect (Leptin deficiency) - Hypothalamic Tumour
> Hypopituitarism
- Endo (not gaining ht) > Cushing > GH deficiency > Hyperinsulinemism > Hypothyroidism
- Acquired (highly heritable)
6
Q
List complications of obesity via system:
A
CNS: pseudotumour cerebri
CVS: dyslipidemia, HTN
Pul: OSA, asthma
Endo: T2DM, Metabolic syndrome, PCOS
GI: gallbladder dx, non alcohol fatty liver dx
Ortho: SCFE, tibia vara or Blount dx (bowing of tibia), MSK issue (joint or back pain)
Neuro: migraines
Behave: anxiety, depression, low SE
7
Q
List obesity screening:
A
Start: 10 y.o. then q2y (or earlier if early puberty or signs of complications)
- AST, ALT
- Fasting Lipids (TG, HDL, LDL)
- HbA1C
8
Q
Define normal ages for puberty in M and F:
A
M: 9-14
F: 8-13
9
Q
What is the first sign of puberty in F?
A
Breast bud (thelarche)-> Adrenarche (pubic hair)-> Growth ++ -> Menarche (at Tanner 4)
10
Q
what is the first sign of puberty in M?
A
Testicular enlargement (4cc) -> Penile growth -> Pubic Hair -> Growth +++ at tanner stage 4-5
11
Q
How long is menarche after thelarche?
A
Usually 2 years
12
Q
Where are girls and boys near their 12th birthday?
A
F: Just about to have menarche (12.5 years)
M: Adrenarche (Pubic Hair)
13
Q
At Tanner Stage 4 where are F and M?
A
F= Double breast contour + Menstruation. M= Growth spurt.
14
Q
Describe the F Tanner Stage for Breast Development:
A
1= preadolescent *2= breast mound, areola increased 3= breast + areola enlarge, no sep *4= Areola second mound 5= mature nipple projects
15
Q
Describe the F Tanner Stage for Pubic Hair:
A
1= preadolescent *2= sparse, medial labia 3= darker, start curl *4= coarse, less < adult 5= adult
16
Q
Which is true in puberty:
- Double breast contour Tanner 3
- menses Tanner 4
- Max penile growth Tanner 2
- Axillary hair Tanner 3
A
Menses Tanner 4.
- Double breast T4
- M enlarge penis at T3
- Voice change T4 (breaks in T3)
- Axillary hair T4
17
Q
Describe the male Tanner Stages:
A
1= Testes < 4cc
No pubic hair
No penile growth
2= *Testes 4 cc
Pubic hair minimal
Penis early increase
3= Testes 12 cc
*Pubic hair coarse dark curly on pubis
* Penis increase ++
Voice may break
4= Pubic growth just not fully spread
*++ growth spurt
Axillary hair, voice, acne
5= adult
Facial hair
18
Q
What is the action of insulin:
A
Glycogen synthesis
19
Q
Action of glucagon:
A
Gluconeogenesis
20
Q
What do the growth curves look like for:
- Familial Short Stature
- Constitutional delay
- Russel-Silver (Prenatal)
- CF or RF (Post natal)
A
Familial: start and stay just below
Constitutional: normal till 6-9 mo then fall off and catch up at end); normal velocity in the middle
Prenatal: start and stay parallel ++ below
Post-natal: FINE -> FALL
chronic dx= wt fall before ht
endo= wt fine, ht fall
21
Q
Indications for GH therapy in short stature:
A
“Turn, Grow, Prader Willi SIR”
>Turner >Growth H deficiency >Prader Willi >SGA (not caught up by 2y.o.) >Idiopathic (2.25 SD corrected for bone age= man < 5'3" or F < 4'10") >RF (chronic; pre transplant)
Other from Nelson’s: SHOX gene abnormality, Noonan syndrome
22
Q
Pro and Con of starting GH in Prader Willi
A
(+)= may prevent excess wt gain later
(-): can increase risk of sleep apnea
23
Q
General GH risks:
A
- Pseudotumour cerebi
- SCFE if high BMI
24
Q
T or F: Cushing’s is most common endocrinopathy causing short stature?
A
False
- Hypothyroidism most common.
25
Recommended screening test for Cushing disease?
AM cortisol.
26
Recommended screening test for GH deficiency?
IGF-1= screen
Confirm= GH stimulation test
27
Who needs to be assessed for short stature?
- Slow growth rate (< 5cm/year btwn 3-12 y.o.)
- Crossing % tile post 1.5 y.o.
- Well below genetic potential
- Ht < 3rd % tile
28
How do you calculate mid-parental height:
Dad + Mom's ht (+/- 13)
= x
= x/2
= 10 cm above and below are 2SD
Genetic potential= this target range
29
T or F: 4 y.o. child growing 3 cm/year is normal.
False.
Btwn 3-12y.o. = 5 cm/yr
Then puberty= 12 cm/year
30
Describe your approach to short stature:
1. Growing at normal rate.
2. W/in Genetic Potential?
= YES to both= constitutional or familial
= NO to either= Pathologic
31
If pathologic short stature how do you separate it clinically?
Proportionate = wing span w/in 5% of ht + upper:lower segment 1:1
- Prenatal: born small, dysmorphic etc.
> Russell Silver, Turner, SHOX deficiency
- Post-natal: chronic dx (wt off first) vs. endo (CNS, hormone = ht off)
> hypothyroidism, GH deficiency, CNS
Disproportionate= Scoliosis +/- Genetics referral (achondroplasia)
32
T or F: constitutional growth delay has normal growth velocity.
Mainly true.
- wt + ht decrease near end of infancy (< 2 y.o.)
- THEN NORMAL curve
- then accelerate near end of adolescence
33
T or F: girls usually stop growing ~2 years after starting their menses?
True
34
How much do girls grow after their onset of menses?
Royal College: 5cm-6 cm.
35
Describe two causes of GH deficiency:
Congenital: genetic gene mutation
Acquired: Radiotherapy from CNS tumour (i.e. pituitary adenoma, craniopharyngioma)
Acquired: Infection (Meningitis, encephalitis)
36
Definitive dx of GH deficiency established via?
Absent or low levels of GH in GH stimulation test.
Other: IGF-1 Low
Bone Age delayed.
37
When do you think of GH deficiency:
- Severe short stature (ht < 1st %tile or > 2.5 SD)
- <4-5 cm/year growth or cross two major % tile
- Features (hypoglycaemia, blue sclera, crytochordisim, microphallus, doll like fat, CNS tumour or radiation)
38
Triangle facies + thin skin with blue sclerae. Short stature. Dx?
Russell-Silver Syndrome
39
Which region on the Y chromosome causes M development?
SRY gene on Y chromosome
40
What is the default of gonad development?
F
- Need SRY from Y chromosome to make testis
41
If androgen insensitivity syndrome (Receptor issue) what does the BB look like?
Normal testes (because has SRY) but phenotypical F because T effects don't happen
42
5-alpha reductase deficiency looks like?
look F at birth
| (T not changed to DHT) but get secondary male traits at puberty
43
47 XXY=
Klinefelter
44
45 XO=
Turner
45
45X/46XY
Mixed gonadal dysgenesis
46
T or F: most CAH are 21-hydroxylase deficiency?
True
47
List investigations for ambiguous genitalia?
- Karyotype + FISH for SRY region on Y
- US (Mullerian structures)
- Adrenal: 17-hydroxyprogesterone + lytes + glucose
- If see gonad/testes= LH, FSH, T, DHT, hcg stimulation test (measure T before and after)
48
T or F: The most common cause of 46XX ambitious genitalia are virilizing CAH.
True
49
Disorder of decreased peripheral sensitivity to T causing ambiguous genitalia=
Androgen Insensitivity Syndrome
50
Most common form of male disorders of sexual differentiation?
Androgen Insensitivity Syndrome
51
AIS (androgen insensitivity syndrome) versus alpha-5-reductase deficiency?
AIS= Testes make T but does not affect target cells. No puberty.
5 alpha= Testes make T but not DHT. But Lots of T at puberty= male stuff happens! = masculinization at puberty
52
1 week old with ambiguous genitalia, V + lethargy. Dx=?
CAH
53
CAH baby B/W:
Waste salt= Low Na + High K!
- metabolic acidosis
- ACTH very high
- cortisol low
- glucose low
Confirmatory test= am cortisol + ACTH stimulation test
54
Adrenal cortex layers?
GFR
Salt-Sugar-Sex
Adrenal Cortex...
Glomerulosa= Aldosterone (Salt)
Fasciculata= Sugar (Cortisol)
Reticulata= Sex (androgens)
Adrenal Medulla... Adrenaline
55
Primary Adrenal Insufficiency: Name two congenital and two acquired causes of adrenal insufficiency:
Congenital
1. 21 hydroxylase deficiency CAH
2. Adrenal hypoplasia
3. Adreno-leukodystrophy
Acquired
1. AI = Addison's Dx
2. Infection: TB, HIV
3. Infiltrative: CA, amyloidosis
56
Secondary Adrenal Insuff. Name cause?
= lack ACTH (central)
- drop cortisol but not aldosterone
1. chronic steroid use
2. Surgery (pit alter)
3. Pituitary Tumour radiation
57
Low na, high K. Metabolic acidosis. Baby with ambiguous genitalia? What test?
Congenital Adrenal Hyperplasia
17-hydroxyprogesterone
58
How do you treat CAH?
Salt + Sugar + Steroid + Support
- Hydrocortisone
- Fludrocoritsone
- IVF/ ABC
- Call Endo
59
Perineoscrotal hypospadias, ++ phallus and no palpable testes. Dx?
Partial androgen insensitivity.
60
How do you remember Hashimoto versus Grave's?
hashimOtO= O= hypO
- antibodies against thyroid peroxidase (TPO) and/or thyroglobulin
gRavE's= ER = hypER
- antibodies against TSH receptor = rev up= thyroid stimulating immunoglobulins
61
T or F: anti-thyroid peroxidase (TPO) antibodies are present in most kids with lymphocytic thyroiditis?
True.
62
T or F: Primarily B cell infiltration for lymphocytic infiltration (Hashimoto)?
False.
- infiltration of lymphocytes (most T cells) + plasma cell leading to follicle atrophy
63
Best way to monitor effectiveness of thyroid replacement in Hashimoto?
TSH
| Tx indicated if >10
64
What is used to determine initial dose of replacement in Hashimoto?
free T4
+/- TSH (sometimes subclinical still used)
65
What is the most common cause of thyroid dx in kids?
Lymphocytic Thyroiditis
| = Hashimoto Thyroiditis
66
T or F: anti-thyroglobulin peroxidase (TPO) antibodies are present in most kids with lymphocytic thyroiditis?
False.
< 1/2
67
T or F: most people with lymphocytic thyroiditis are euthyroid ppt?
True.
+/- goitre
+/- growth retardation
68
Name two conditions lymphocytic thyroiditis is associated with:
1. T21
2. Turner
3. T1DM
4. Celiac Dx
69
If subclinical hypothyroid (high TSH and normal free T4) - do you tx?
Controversial
- most until growth and puberty done and then R/A to ensure no impact on bran as levels vary
70
All are seen in hypoparathyroidism except?
- increased ICP
- candidiasis
- carpopedal spasm
- hyporeflexia
Hyporeflexia!
Low PTH
= Low Ca
= Muscle cramp, pain, numb, stiff, spasm, sz
+ HYPER reflexia
+ mucocutaneous candida, h/a, ICP, cataracts etc.
71
List 5 clinical findings of congenital hypothyroidism:
- large AF
- coarse facies
- big tongue
- hoarse cry
- edema
- umbilical hernia
- hypotonic
- lethargic/ low activity
- poor feed
- prolonged jaundice
72
T or F: if TSH > 40 and T4 low ( if tested) you should start ASAP once confirmatory BW drawn (while awaiting results)
True
73
List two reasons for false (+) and (-) newborn thyroid screen:
False (+):
1. screen before 24h old
2. prematurity
False (-):
1. Critical illness
2. post-transfusion
74
List 2 reasons for congenital goitre.
1. Congenital hypothyroid
| 2. anti-thyroid or iodides during pregnancy to tx maternal thyrotoxicosis
75
T or F: all babies born to F tx w/ antithyroid med in T3 need studies at birth.
True
- typically if need tx only few weeks once med out of system.
76
What is the leading cause of preventable intellectual disability in the world?
Iodine deficiency.
77
Most common cause for acquired goitre?
Lymphocytic Thyroiditis (hashimoto)
78
T or F: if you see an asymptotic goitre you just watch and re-image later?
False.
- prompt investigation for cause + thyroid f'n
- TSH, T4, anti-TPO antibodies
79
List two medication to use with Graves disease:
= Propranolol (symptomatic)
= Methimazole (1st line)
80
How does T2DM usually present?
- Teen
- Obese
- N/V + Abdo Pain
- Polyuria
- 10%= DKA (typically black)
81
List longstanding 1DM complication:
Heart (HTN, lipid) -> Kidneys -> Neuro -> Eyes
HTN (2x/year screen)
@ 12 y.o. + min. 5 yr dx
- Dyslipidemia (or < 12 if high BMI, fhx of hyper lipid or early CAD)
- Nephrology (random alb: Cr)
- Neuro Hx + P/E
@15 y.o. + min. 5 yr dx
= yearly retinopathy
82
How do you halt progression of microalbuminuria in a DM?
ACE inhibitor (i.e. enalapril)
83
How do you manage patients NPO for OR with diabetes?
Night before= full dose basal long acting insulin (glargine= Lantus or determir= Levemir)
Morning of= 50% intermediate dose (NPH or Lente)
In OR= Dextrose fluids + IV fluids
84
What condition causes acanthosis nigricans?
Insulin resistance.
Commonly associated with type 2 Diabetes.
85
How do you diagnose T1 DM?
HbA1C 6.5%
OR fasting plasma BG > 7
OR 2 hour oral glucose tolerance test > 11.1
OR plasma glucose > 11 w/ classic symp
86
How do you diagnose DKA?
DM= glucose > 11
Urine Ketone (+)
pH < 7.3
bicarb < 18
87
BEST method to screen for diabetic nephropathy?
First morning urine for albumin to Cr ratio.
88
When do you start ophthalmology screen for diabetic retinopathy in T1DM?
IF 15 y.o. + > 5yr from diagnosis
| = start annual screen.
89
What is the most common endocrine disease?
Diabetes Mellitus
90
Describe the classic symptoms of T1DM. Then describe the classic symptoms of DKA.
```
Classic=
> polyuria
> polydipsia
> polyphagia
> wt loss
> enuresis
```
```
DKA=
same as classic
+ N/V/Abdo pain
+ hyperpnea (Kussmaul to compensate for ketoacidosis)
+ LOC (drowsy, lethargy)
```
91
What are our glycemic targets for T1DM?
Vary by age .
< 7% HbA1C (< 8 if < 6 y.o.)
Fasting BG 4-7
Two hour post meal= 5-10
92
Risk Factors for cerebral edema:
- *Young (<5 y.o.)
- *New dx
- high initial Ur
- low pCO2
- * rapid hypotonic fluids
- * IV bolus insulin
- * early IV insulin infusion (within first hour of fluids)
- Failure of Na to rise during tx
- use of bicarb
93
Name 2 errors that you could have made in DKA tx that could of resulted in cerebral edema:
- bolus IV insulin
- Early IV insulin infusion (within 1h of first fluids)
- rapid hypotonic fluids
- use bicarbonate
94
Name two RF associated with cerebral edema in T1DM:
- Young age (<5)
- New onset DM
- high initial Serum Ur
- low initial pCO2
- failure of serum Na to rise during tx
95
T1DM child who missed pre-supper insulin (5R + 8N). About to take evening snack. Glucose 23.5. Advice:
1. Check for ketones
2. Take regular evening dose
3. Based on ketones and chart, may need extra insulin (usually 10-20% of total daily dose)
4. Monitor BG more frequently (within 2-4 hour)
96
List 5 things you would do to help transition T1DM peds patient to adult care:
1. *Keep it youth focused
2. *Transition at youth's pace; increasing autonomy and see without part for part of apt
3. Appropriate resources to pt throughout transition.
4. Teen should be given info about condition
5. *Teach skills of negotiation and communication needed in adult care
6. *Transition letter about new location, staff, what to expect
7. *Ensure F/U during transition to avoid fall in F/U
97
What rate of insulin do you start in DKA?
0.1 U/kg/hour
Insulin infusion
Humulin R
Started 1-2 h after IV rehydration started.
98
How do you manage DKA in shock (poor pulse or reduced LOC)
ABC:
- Airway
- 100% O2
Circulation: 10cc/kg over 1-2 hour repeat but try to avoid 30 cc/kg
99
How you manage DKA who is tolerating oral fluid and minimal dehydration:
1. Continue with PO hydration.
| 2. Start SC insulin.
100
How do you manage DKA with dehydration:
1. Calculate fluid requirement and correct over 48hr via NS
[wt x dehydration (i.e. 3%= 30 cc/kg)]
+ maintenance
divided by 48= __ /hr
2. ECG for abN T waves
3. Add 40 KCL
Hourly BG, lytes q2h, Hourly I/O + Neuro
101
What are warning signs of neurological deterioration in DKA?
H/A
Brady
Irritable
Low LOC
102
How do you start SC Insulin once DKA resolved:
0.5 U/kg/day
1/2 dose= Lantus
1/2 dose= Humaog (Rapid split equally for meals)
OR 2/3 1/3 if NPH
- 2/3 total= AM= with 2/3 of that NPH + 1/3 rapid
- 1/3 total= PM= 2/3 NPH and 1/3 of that rapid
103
How do you correct pre-meals BG?
Correction Factor
= Rule of 100
100/total daily insulin
= x
1 U of rapid drop BG by x
Insulin supplement= (Current BG- Target) / CF
= y
Give baseline + y for that meal
104
How do you correct for snacks in T1Dm
```
Insulin to carb ratio
Rule of 500
500/total daily insulin
= x
1U of humalog rapid cover x gram carb
```
105
When looking at BG trend in DM how much do you correct by?
10%
i.e. if high 3 d in row, at same time, you increase appropriate insulin dose by 10%
106
What is DM sick day management?
1. Tx illness
2. Replace fluids
3. If you can't eat= sugar + fluids
4. Check BG + ketone q 2-4 h
5. KEEP giving insulin dosing
6. if BG > 14 may ned extra rapid on top
107
Which comorbidity with T1DM do you always screen at dx and every 2yr after?
AI thyroid dx
= TSH + anti-thyroperoxidase antibodies
Rest (Addisons, Celiac dx = as clinically indicated)
108
T or F: almost all pt with T1DM that will develop cerebral edema do so within 24h?
True.
2/3 within first 7h of tx
Almost all within first 24h
109
What is the equation for Anion Gap Calc:
Na - Cl - bicarb
Usually 8-12
110
How do you tx cerebral edema?
1. ABC + neuro vital
Try to avoid intubation.
2. HOB 30 degree
3. decrease fluid rate by 1/3
4. 3% NS 5cc/kg IV over 20 min.
5. Mannitol 0.5 gram/kg IV over 20 min.
6. CT when stable.
111
CHEO normal BP IV fluid rates for DKA:
NS + 40 KCL (if initial K < 5.5 and urinated)
< 10kg= 6cc/kg/hr
10-19= 5cc/kg/hour
>20= 4cc/kg/hour (max 250/hr)
112
When do you add dextrose to DKA fluids?
If BG < 15 or dropped > 5/hour change to D5SNS or D50.45NS.
Goal: 10-15 and decrease no more than 5 mmol/hour.
113
List the two main hormone that regulate Calcium and what do they do:
1. PTH
= kidney reabsorb Ca2+
= renal excrete phos
= hydroxylate 25 to 1,25-(OH)2-D3
2. 1, 25 di-hydroxy-vitamin D3 (active metabolite of D3)
= Ca2+ and phos absorbed through gut and bone
114
Describe the difference in BW in low PTH vs. low Vit D:
Low PTH
= low ca, high phosphate, normal alk-phos, low 1,25 (OH)2 D, high urinary ca2+
Low Vit D
= low Ca2+ , high PTH, low or N phosp, high alk-phos, high 1,25 (OH)2 Vit D, low urinary Ca2+
115
List 3 causes of congenital and 3 acquired causes of hypoparathyroidism:
Congenital:
- Calcium Sensoring Receptor Mutation
- *Transient neonatal
- Congenital (i.e. *Di George)
- Insensitive to PTH like *hypomagnesia
Acquired:
- *AI polyglandular syndrome type 1
- *Post Sx, radiation
- * Infiltrative (hemochromatosis, Wilson disease)
- Maternal hyperparathyroidism
- Hypomagnesmia
116
Hypoparathyroidism can be seen in all BUT:
- rickets w/ liver failure
- rickets w/ anticonvulsants
- primary proximal RTA
- vit D deficient Rickets
Vit D deficient Rickets
117
Most likely cause of 3 week old with hypocalcemia?
Transient hypoparathyroidism
118
Name two common neonatal causes of hypoclacemia:
1. Infant of DM mom
2. Stress from asphyxia or sepsis
3. Di George
119
List a ddx for hypoglycaemia:
1. Not enough sugar
- *Inadequate PO
- decreased absorption
2. Cells take +++ BG
- excess insulin: *IDM, *Beckwith-Wiedemann, gastric dumping
- Large tumours
- *Sepsis
3. Not creating BG
- *Hypopit= Adrenal insuff, GH insuff
- * Hypothyroid
- * Poor stores
- * Ketotic low BG
120
Critical Sample for Hypgolycemia
1. Not enough sugar
- BG
2. Cell take too much
- Insulin
- C peptide (released w/ endogenous insulin)
- Lactate
3. No creating Enough
- Free f.a.
- Beta-hydroxybuterate (serum ketones indicator)
- Urine ketones + Glucose
- GH
- Cortisol
... Other tests = Ammonia, Acyl carnitine profile, IGF (should be suppressed by insulin), lytes, urea, LFTs, TSH, T4, urine reducing substances, organic acids, toxicology
121
Hypoglycaemia Etiology FOR: Beta hydroxybutyrate LOW + Free f.a. low.
Ketones and plasma free f.a. should increase as alternative fuel if low BG.
IF don't= INSULIN++ (or panhypopit)
122
Hypoglycaemia Etiology FOR: Beta hydroxybutyrate LOW + Free f.a. UP
Defect in f.a. metabolism.
Ketones + free f.a. should both go up as alternative fuel if low BG
123
18 mon. with low BG. No ketonemia or ketonuria. Two most likely dx?
1. Hyperinsulinism
| 2. Fatty acid oxidation defect
124
How do you tx low BG:
Dextrose
Glucagon (if from ++ insulin)
Hydrocortisone
Carnitine (free f.a. oxidation defect)
125
Child takes family's glyburide pills. what is initial management? How often do you check the Sugar? How long do you observe.
Glyburide= Sulfonylurea= increase endogenous insulin release = lower BG
```
Initial: BG
Tx: Simple sugar STAT + repeat check sugar
+/- IV Dextrose if need
Check: q 1-2 h
Observe: 24hr
If fine can d/c then.
```
126
What is transient hyperinsulinism?
- persistent hypinsulin hypoglycaemia that spontaneously resolves
- RF: SGA, asphyxia at birth, born to gDM
- non ketotic
127
Describe Beckwith-Wiedemann Syn.
Micro duplication issue
- mutation from dad
```
Macroglossia
Macrosomia
Ear pits
++ Hyperinsulin low BG
Omphalocele
Umbilical Hernia
CA (Wilms, Hepatoblastoma, Adrenal, Gonad)
IQ impairment
```
128
What is ketotic hypoglycaemia?
Most common form of childhood hypo-BG
Idiopathic; less gluconeogenesis substrate
Usually 1.5-5 y.o.
Small thin children
Illness or fasting (12h)
Ketone (+)
Dx of exclusion
Tx: frequent feed (4-5X/day) w/ high protein + high protein. +/- corn starch at night.
Stop by 8-9 y.o.
129
What it the process of creating ketones?
Normally
= fast -> free f.a. from fat -> oxidized to ketones
If F.A. oxidation defect
= fast/ill -> free. f.a. not oxidated= no ketones + low BG
130
What are types of F.a. Oxidation defect?
i.e. VLCHAD, LCAD, LCHAD etc.
CC: low tone, hepatomegaly, low BG, no ketones, high plasma free f.a. concentration.
WU: carotene level, acylcarnitine profile, urine organic acid analysis
131
6 y.o. with 6 mo. pubic hair. No other secondary trait. Bone age normal. Urine ketosteroids (androstenedione) ++. Serum gonadotropin, T, 17-OHP normal. No change w/ 17-OHP on dexamethasone challenge. Most likely dx.
- CAH
- adrenal tumour
- physiologic adrenarche
- exogenous steroids
- Cushing's
Premature Adrenarche
- Pubic hair < 8 F or < 9 in M
- + basal ACTH stimulation = DHEA, urine ketosteroids (androstenedione)
- No tx needed
132
Define precocious puberty in M or F
F < 8
| M < 9
133
T or F: central precocious puberty follow pattern of early puberty?
True.
i.e. F = thelarche -> adrenarche -> menses
134
How does premature thelarche present? When does it stop?
- benign
- ISOLATED breast bud seen in < 2
- NO ht acceleration, No signif. advanced bone age, androgen or sex traits
Self- resolve
Not assoc. w/ precocious puberty or early menarche
Resolve by 3
If past 3= ensure not true central cause.
135
2 y.o. premature thelarche. Bone age 3 yr 3 mo. How will she progress to puberty?
Resolve by 3 y.o.
- Do not expect fast or slow progression to puberty.
136
Define premature adrenarche:
Typically 6-8 y.o.
ISOLATED
pubic hair or body odour, mild acne.
NO other signs of puberty (rapid growth, bone age advanced bone age).
NO thelarche, vag d/c
NO big testes
137
T or F: most common etiology of precocious puberty in girls is idiopathic.
True.
138
T or F: final ht is not affected in precocious puberty.
False.
139
List three causes of central vs. peripheral causes of precocious puberty:
```
CENTRAL= gonadotropin dependent
> *Idiopathic
> Brain lesion or tumour (*astrocytoma, *hypothalamic hamartoma)
> CNS insult (CP, hydrocephalus)
> *Tuberous Sclerosis
> Head trauma
```
PERIPHERAL= gonadotropin independent
> Gonadal Steroid
- *McCune Albright Syn
- *Ovarian Tumour
- *Leydig cell Tumour
- Hypothyroidism (prolonged untreated)
- *Exogenous E or T
> Adrenal Steroid
- *CAH
- Human chorionic gonadotropin producing tumours (brain, liver, mediastinum)
140
Describe the McCune Albright Triad
CAM- Puberty- Fibrous
CAM (cafe au lait macules)
+ fibrous dysplasia
+ precocious puberty
141
Approach to Precocious puberty. What two checks to check first:
1. Growth velocity
2. Bone
If accel. of ht or bone age advanced= pathological
-> central vs. peripheral
142
T or F: testes 4cc or more suggest peripheral cause of precocious puberty.
false.
Tests min. 4cc= central cause
- R/O CNS tumour (carniopharyngioma, astrocytoma, hypothalamic hamartoma, NF etc.)
- KEY: GNRH stim test + Imaging
143
Initial tests for Early puberty:
- am LH
- FSH
- Estradiol or T
+/- 17-OHP, androgen (DHEAS and testosterone)
+/- thyroid, hCG, alpha fetoprotein
+/- GnRH simulation test (definitive test for central)
+/- US: peripheral precocious
+/- MRI (if central male, girl with pathologic)
144
What is central precocious Puberty Tx
Tumour = tx, Sx
GnRH analog= leuprolipe IM monthly
145
Pubertal gynecomastia most likely associated with:
- Tanner 1
- size< 4 cm
- non tender
- last 3 yr
- testes < 3.5
Size < 4.
- typically 10-16 y.o.
- palpable +/- tender
- no BW needed
- regress on own
- regress within 3 yr w/out tx
146
What is pathological gynecomastia?
if PRIOR to puberty (testes < 4cc)
OR if > 4x4cm (AAP)
- tumour
- exogenous E
- hyperthyroid
- defect in T (gonadal dysfunction, androgen insensitivity)
- MJ
- anabolic steroid
BW: serum T, estradiol, LH, DHEAS
147
What is delayed puberty:
NO sexual traits by 13 for F or 14 for M
OR NO menarche by 15
148
14 y.o. F. delayed puberty. Short. Bone age normal.
Turner syndrome
Note: hypothyroid delayed bone age.
149
Describe your approach to delayed puberty:
1. LH + FSH CHECK
LOW= central
- constitutional delay of growth + puberty
- hypothalamic or pit
= lesion, Congenital (kallman), chronic illness, AN, athletic, hyperprolactinemia, hypothyroid
*Pituitary hormone +/- imaging
```
HIGH= peripheral
- gonadal failure
= M = Klinefelter (47XXY), Noonan, B/L testicular torsion, vanishing tests
= F= Turner, Gonadal dysgenesis
= Acquired= radiation, chemo, mumps
```
150
Define primary amenorrhea.
No menses by 13 if no sexual traits
OR no menses by 15 if sexual traits.
```
= *Constitutional delay
= Anatomical (*craniopharyngioma)
= Gonad (*Turners)
= Pituitary (*Kallman, pituitary adenoma)
= + Secondary Causes
```
151
Name secondary cause of amenorrhea:
* Pregnancy
- pituitary adenoma, *carniopharyngioma
- Hyperprolactinemia
- *hypo/hyper thyroid
- *Late onset CAH
- *PCOS
- *stress
- *chronic illness
- *AN
152
Delayed sexual behaviour in teen associated with:
- precocious puberty
- poverty
- sexual abuse
- strict parenting
Strict parenting
153
Which investigation do you do first for testicular mass ?
U/S
154
T or F: most solid painLESS testicular masses in teen= malignant.
True
98%
155
16 y.o. M w/ anabolic steroids. Testes small- why and which test to confirm suspicion?
(-) feedback from steroids on HPA axis
= Low LH, FSH, T
156
Describe general criteria for PCOS:
NIH: Oligo (>8/yr) or anovulation
AND clinical/biochemical hyperandrogen
Note: Rotterdam above or U/S findings. Need 2/3.
157
List associated complications with PCOS:
- Insulin resistance
- T2DM
- Metabolic Syndrome (dyslipidemia, glucose, obesity)
- Pseudotumour cerebri
- Miscarriage/ Infertility
- Endometrial CA
- Depression
158
What type of BW pattern do you see in PCOS patients?
High LH/FSH ratio
High Androgen (T and DHEAS)
Metabolic profile (low HDL, high TG, diabetes)
159
What must you always rule out with any F that looks like high androgen? Which test?
Late adult onset CAH
17-OHP
160
List two main management for PCOS:
1. Lifestyle
| 2. Androgen suppression (OCP +/- metformin +/- spironolactone)
161
T or F: PCOS protects them from preg as they can't get pregnant.
False.
Infertility risk but DOES NOT completely protect.
162
List 3 causes of Hirsutism in F teen:
Congenital: T18 (Edwards), Cornelia de Lange, Hurler
Peripheral: Idiopathic, * hyperprolactinemia
Gonadal: *PCOS, ovarian neoplasm
Adrenal: *Cushing syn, *Late CAH
Exogenous: Cyclosporine, anabolic steroids
163
Name common estrogen AE of OCP:
- *breakthrough bleed
- *breast tender
- *fluid retention (sale and water retain)
- nausea
- ++ appetite
- *H/A
- * HTN
164
Name common progesterone AE of OCP:
- menses change
- bloating
- *mood
- appetite ++
- wt gain (more w/ depo)
- *acne
165
The E part of OCP causes what:
- moody
- fluid + salt
- acne
Fluid retention
Acne + Mood= P
166
F. Obese. Irregular periods. Acanthosis nigricans. Facial hair., chest, legs, arm. Acne. Likely Dx?
PCOS
167
Name two tests that can help w/ secondary amenorrhea W/U:
beta HCG
LH/FSH ratio
E
TSH/T4
Prolactin
T, DHEA
I.e. high androgen with high FSH/LH= PCOS, androgen tumour (ovarian, adrenal)
i. e. high FSH and low E= premature ovarian failure (AI, T1DM, thyroid, radiation)
i. e. low FSH + low E = pituitary, head injury, Sheehan
168
Three causes of dysmenorrhea:
Primary/Idiopathic.
Secondary
- endometriosis
- ovarian cyst
- uterine polyps
- uterine anomalies
- PID
- foreign body
169
Two classes of meds that can help w/ dysmenorrhea?
1. OCP= suppress ovaulation/reduce menstrual flow
| 2. NSAID
170
Child with septa-optic dysplasia. High K.
Adrenal insuff
= IV steroids
Septa-optic dysplasia vary from normal pituitary to full loss.
171
What are the endocrine findings of McCune Albright. What are non endo findings?
Endo:
- precocious puberty (menses by 2)
- hyperthyroid
- hyperparathyroid
- pituitary adenomas (excess GH like acromegaly, Cushing's)
Other non endo:
"CAM- Puberty- Fibrous"
- cafe au lait= large, jagged, do not cross midline, Coast of Maine
- osseous fibromas= fibrous dysplasia of bone
172
Large CAM and short. Dx? W/U?
```
McCune Albright
'CAM-FP'
- Cafe au lait
- fibrous dysplasia
- precocious puberty
```
W/U:
- TSH, T4
- gonadotroin (LH, FSH)
- T, E
- prolactin
- IGF-1
- +/- clinically dincated XR
- gene testing
173
Kid presents w/ vag bleed. Tanner 3. CAM and bump on leg. XR show fibrous dysplasia. What do you look for: - neurofibroma, other endo, echo?
Other Endo
= McCune Albright
CAM-FP
- precocious puberty
- hyper-thyroid
- hyper parathyroid
- pituitary adenoma
174
Which of the following feature of primary nephrogenic DI?
- IQ impairment
- Male dominant
Male predominant.
175
Hypernatremia categories:
1. Intake
- too much Na
2. Impaired renal concentration
- Central or Nephron DI
3. Loss
- diarrhea, burns
176
Define diabetes insipidus.
```
Disorder of vasopressin (ADH)
- posterior pit= ADH
- dx= can't [urine]
- central: not enough made or released
- nephro: kidney doesn't response to ADH
Either= dilute + U/O + high serum Na
```
177
List 4 causes of congenital and acquired causes of Central DI:
Congenital
> Genetic
> Septo-optic dysplasia
> Corpus callous agnesis
```
Acquired
>* Trauma
> *Post NeuroSx
>* Tumour (craniopharyngioma)
> Infection (meningitis, encephalitis)
```
178
List two causes of nephrogenic DI:
* Genetics (X linked in 90%= MALE)
* Primary Renal dx of CRF (PCKD, uremia)
* Drugs (Lithium, Amphotericin B)
179
What criteria do you need to dx Diabetes Insipidus?
1. U/O > 4 cc/kg/hr x 2h
2. Na > 145
3. SG > 1.005 or urine osmolality < 300
180
How can you tell the difference btwn central vs. nephrogenic DI?
Response to ddAVP.
- Central respond to desmopressin
- Nephron does not concentrate urine
181
Steps for treating DI:
Nelson:
- Resus
- replace ongoing loss
- replace over 48h
- D5 0.45NS fluid at 1.2-1.5X maintenance
- Follow BW and adjust (i.e. NA drop too fast = increase in IVF and decrease rate of IVF etc.)
AHD:
1. Resus as need
2. Stop excess Na
3. Replace ongoing loss (insensible loss + U/O q4hr)
4. Correct for dehydration over 48hr (6%= 60 cc/kg x wt= divided by 48hr= x/hour)
* THUS hourly= maintenance + insensible + U/O + deficit
5. Choose Fluid based on initial Na (max 0.5 mEq/hour or 10/day; Androgue)
6. Tx underlying (i.e. ddAVP PO/SL)
182
Symptoms of hypernatremia:
```
Lethargy
Irritable
ataxia
Hyper-DTR
Sz
low GCS
```
183
3 week old M infant. Lethargic. Na 118. K 8. Most important lab test:
- vasopressin
- 17-OHP
- cortisol
- ca2+
- renin
17--OHP
CAH salt wasting form
= hypo-Na
= hyper-K
= metabolic acidosis
184
List two primary and two secondary causes of adrenal insufficiency:
Primary: lack cortisol
= *CAH
= congenital adrenal hypoplasia
= AI (*Addison's), Infection (TB, IV), Infiltrative (CA)
Secondary: lack ACTH, CRH
= *chronic steroids
= septic shock
= *Sx or radiation on tumour
185
How do you treat adrenal insufficiency?
Salt
- restore vol; NS okay
- fludrocortisone
Sugar
- Treat low BG
Steroid
- IV hydrocortisone
Support
- BP
- BW
- PICU
Search
- etiology
186
Most common presentation of classic CAH in baby:
Virilized F w/ Low Na and high K
Or Normal M with low Na and high K.
187
How do you generally dose baseline CAH steroids if unwell as outpatient?
Mild= 2X
| fever or vomiting= 3X
188
Take a paper and fill out DI vs SIADH vs CSW table.
- Definition
- Serum Na
- Urine vol
- Urine Na
- Serum Osm
- Fluid balance
- Tx
```
DI:
= less ADH (either release or response from kidney)
- +++ Na
- +++ U/O
(-) Urine Na
Serum Osm +++
Fluid balance (-)
= Fluid + Correct Na + Decompression or vasopressin IV
```
```
SIADH:
= too much ADH
(-) Na
(-) U/O
Urine Na N/(+)
Serum Osm (-)
Fluid balance (+)
Appear euvolemic
= Fluid restrict, slow na replacement
```
```
CSW:
= Renal Na+ loss with no renal Na absorption
(-) Na
++ U/O
Urine Na (+)
Serum Osm N
Fluid balance (-)
Clinically dehydrated
= replace fluid + Na
No fluid restrict
```
189
Clinically how can you tell the difference w/ SIADH or CSW?
CSW= clinically dehydrated.
190
How do you calculate BMI?
weight
divided by
height squared
191
When to intervene and counsel on risk of obesity:
Once they start overweight range
| = BMI 85th %tile
192
Which is a complication for an obese pt:
- T2DM
- delayed puberty
- AVN femoral head
- thyroid dx
T2DM
Others:
- Early puberty
- SCFE not AVN
- hypothyroid can be cause not complication
Other:
- OSA, asthma
- Dyslipidemia, HTN
- Metabolic, PCOS
- Gallbladder, Non alcohol fatty liver dx
- Pseudotumour cerebri
- migraines
- Tibia vara (bowing), MSK (back or joint pain)
- Anxiety, depression
193
What is the management of pt w: high TG, high LDL, FHX high cholesterol:
Life style + Diet (Low fat diet)
x 6 mo.
If fail = drugs.
194
Name 6 secondary reasons for hyperlipidemia:
1. Obesity
2. T2DM
3. Nephrotic Syndrome
4. Hypothyroidism
5. Cushing
6. Renal failure
7. Anabolic steroids, beta blockers
195
Define Rickets and the three ingredients involved:
Defective mineralization of Ca2+ of bones while growth plates OPEN (vs osteomalacia defect in bone matrix w/ open or closed plates)
Three ingredients
1. Vitamin D
2. Phosphorous
3. Calcium
196
Name two causes within the three ingredients key to Rickets:
1. Vitamin D
- nutritional deficiency
- secondary malabsorption
- Vit D dependent (reduce activity of Vit D)
Rickets type 1 or 2
- Renal osteodystrophy
- CRF
2. Phosphorous
- Prem
- X linked hypophosphatemia (Vitamin D resistant Rickets)
- RTA/ Fanconi Syn
3. Calcium
- Nutritional low
- Prem (Rickets of Prem)
- Malabsorption
197
Just for learning: Stages of Rickets
1. Transient phase= Osteopenia with low Ca
2. Bone Pain= Increase PTH and low normal Ca
3. Gross disfigured= overt hypo-Ca again
198
List 5 findings of Rickets
- poor growth/FTT
- *delayed AF closure
- *craniotabes
- *frontal bossing
- * rickets rosary (prominent costochondral junction)
- *wide ankle + wrist (enlarged joint)
- * bowing lower limb (genu varum)
- fraying of growth plate (plate wide and metaphysics flares out or cupping finger XR)
- *pathologic #
199
Which babies get 400 IU and which get 800 IU?
CPS
- 400 IU for all BF term
- if live north of 55 degree latitude, esp in winter, increase to 400 Bottle and 800 BF
- 2000 IU for pregnant + lactating F
200
Description of Rickets. Which BW to order?
- Ca
- Phosphorous
- Alkaline-phosphatase
- PTH
- 25 (OH) vitamin D
- 1, 25 dihydroxy vitamin D
201
List 4 effects of hypervitaminosis D.
= ++ Ca
GI:
- *emesis
- abdo pain
- *constipation
- *pancreatitis
Cardiac:
- HTN
- *arrhythmia
CNS
- *lethargy
- confusion
- coma
Renal
- *polyuria
- *nephrolithiasis
- *renal failure
202
T or F: during the first 2-3 year of life children may cross % tile. And also during puberty.
True.
BUT DO NOT cross from 3 y.o. till puberty.
203
Which order do pituitary hormones get affected by tumour/mass effect?
"Go Look For The Adenoma Please"
```
= GH
= LH
=FSH
= TSH
=ACTH
= Prolactin
```
204
What penile length is equivalent to the Testicular size of 4cc?
2.5 cm.
205
Which 2 genetic dx, 1 M and other F, are royal college key for delayed puberty/ gonadal failure .
1. Klinefelter= 47 XXY
- small firm testes + gynecomastia+ infertility
2. Turner= 45XO to mosaicism (45X, 46XX)
206
List 2 red flags for precocious puberty:
- rapid progression
- *BA > 2 years
- predicted ht < 150 cm or > 2SD below mid-parental ht
- * CNS symptom/ sign
207
What is the leading cause of morbidity and mortality inc children w/ DM?
DKA
208
Called in ED to see pt with T1DM on pump. Current BG 20. Urine ketone negative.
- Give basal rate
- Bolus 1 U per 12g
- TDD= 40 U
Tx:
- low carb diet, no extra insulin
- start IV infusion 0.05 U/kg/hour
- D/C pump and given rapid 2U
- Use pump to give 5 U bolus
Use pump to give 5 U
"In general give 10-20% of TDD"
- no ketone= no DKA= don't need infusion
- need more insulin seen even without carb need more sugar (to account for pain, less activity if injury)
- 2 U insufficient
- Correct Factor= 100/40= ~2 so 1 unit drop BG by 2.
So need at least 5 units.
209
CPS managing T1 DM in school recommendation:
1. School must give students *clean, convenient safe area for DM self care* (monitor and insulin)
2. Designated staff must *supervise meal*, snack, ensure fully eaten
3. Each teacher must know how to *recognize + Tx low BG*
4. *Accommodations recommended for examination, *tests, quizzes
210
T or F: individuals at risk of T2DM screened q2yr via fasting plasma glucose if 3 RF pre puberty or 2 post:
True.
RF: BMI 95% tile, FHX T2DM, high risk ethnic, metabolic features (acanothosis nigricans, dyslipidemia)
211
List two ways for reduction of T2DM in Aboriginal kids (CPS):
1. culturally based and community run DM prevention program
| 2. School + daycare explain healthy active living+ healthy eating
212
Term baby 4.7 kg. No gDM. Jittery. BG 1.1. Need GIR > 15. P/E : LGA, macroglossia, umbilical hernia, hepatomegaly. Dx? Why low BG?
Beck with Widemann Syn
= Congenital hyperinsulinism
- no ++ ketones
- GH, cortisol level normal
213
T or F: normal lytes profile rules out Diabetes Insipidus.
False.
- If intact thirst + access to water may have normal lytes.
- Otherwise, Na high.
214
Clitromegaly=
> 9mm
215
Micropenis=
< 2.5 cm
216
3. 2 kg BB. consanguinity. Phallus 1.5 cm. Fused labial folds. B/l inguinal mass. Lytes, BG Norm. Urgent karyotype + what test most inform suspected dx?
- US
- ACTH + renin
- 17 OHP
- Genitogram
US
- b/l masses= likely testes
- US tell us if uterus or not
217
Most common cause of primary adrenal insufficiency:
CAH
and autoimmune destruction of adrenal cortex
218
Most common cause of secondary adrenal insufficiency
Withdrawal from therapeutic glucocorticoid
219
Cushing Syndrome. What is most common pathology if < 5y.o. or > 5 y.o.
< 5= adrenal
- likely McCune Albright
> 5= Pituitary i.e. adenoma
220
Tests for Cushing Syndrome?
1. 24 urinary cortisol
| 2. Dexamethasone suppression test
221
Which genetic condition is associated with hypoparathyroidism?
DiGeorge Syndrome
22q11.2= CATCH 22
```
C= cardiac (cotruncal, TOF)
A= abN facies (long face, narrow fissure, shiners, low set ears, bulbous nose, downturned mouth, open mouth posture)
T= thymic hypoplasia (T cell)
C= cleft palate
H=hypocalcemia (low PTH)
```
Dx= Genomic array.
FISH + karyotype otherwise.
222
Learning fact: Clinically significant # make you think of:
Osteoporosis (DEXA Z scan of -2 SD)
Clinically signif #
= min. 2 long bone by 10
= min. 3 long bone by 19
= 1 vertebral compression
skeletal dx or med most common
- i.e. IBD, Celiac, CRF, CP, immobile, steroids, poor nutrition
