Endocrinology Flashcards

1
Q

List 5 risk factors for cerebral edema during treatment of DKA in children

A
  1. Younger age (<5yo)
  2. New-onset diabetes
  3. Greater severity of acidosis (lower pH and bicarbonate)
  4. High initial serum urea
  5. IV bolus of insulin
  6. Early IV insulin infusion (within 1st hour of IV fluids)
  7. Failure of sodium to rise during treatment
  8. Use of bicarbonate
  9. Low initial partial pressure of arterial CO2 (pCO2)
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2
Q

List 3 risk factors for developing DKA in a known diabetic

A
  1. Hx of poor metabolic control or previous episodes of DKA
  2. Peripubertal/adolescent females
  3. Pump or long-acting basal analogues
  4. Ethnic minorities
  5. Psychiatric disorder
  6. Difficult family circumstances
  7. Age <2yo
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3
Q

How do you diagnose diabetes?

A
  • FPG ≥ 7
  • RPG ≥ 11.1
  • 2hOGTT 75g ≥ 11.1
  • A1C ≥ 6.5 (type 2 diabetes ≥6)

All infants diagnosed <6mo should have genetic testing.

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4
Q

List 2 factors favouring a diagnosis of T1DM in an unclear picture of T1 vs T2

A
  1. ↓insulin C-peptide level
  2. FMHx of autoimmune disease
  3. Normal BMI
  4. Multiple antibodies (anti-GAD, Anti-insulinoma-associated protein 2 antibody)
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5
Q

What is the glycemic target for A1C for T1DM and T2DM?

A
  • T1DM ≤7.5
  • T2DM ≤7.0
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6
Q

What should you screen for with T1DM and when?

A
  • Thyroid Disorder
    • At time of diagnosis + q2y (TSH + anti-TPO)
  • Hypertension
    • ≥2 times / year
  • Addison’s + Celiac Disease:
    • PRN
  • Nephropathy
    • ≥5y since dx and ≥12y (1st morning or random ACR)
  • Retinopathy
    • ≥5y since dx and ≥15y (annually, unless initial testing normal, good control and dx <10h, then q2y)
  • Neuropathy:
    • if poor control + ≥5y since dx
  • Dyslipidemia
    • 12y and 17y (unless FMHx of ↑lipids, early CVD or BMI >95th %tile)
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7
Q

How much glucagon do you give to provide a “mini dose” for mild or impending hypoglycemia with refusal or inability to take PO carbs?

A
  • 1 unit (10mcg)/yr of age
    • min 2 units (20mcg)
    • max 15 units (150mcg)
  • If no response within 20 min, double dose.
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8
Q

What is the typical “total daily dose” of insulin (TDD)?

A
  • 0.5-1 unit/kg/day
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9
Q

List 5 symptoms of hypoglycemia.

What is the recommended dose for glucagon at home dosing in an unconscious child?

A
  • ≤5yo: 0.5mg SQ/IM
  • >5yo: 1mg SQ/IM
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10
Q

How much dextrose do you administer for severe hypoglycemia with established IV access?

A
  • 0.5-1 g/kg IV over 1-3 minutes
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11
Q

What pH levels/HCO3 determine the severity of DKA?

A
  • MILD
    • pH: 7.2-7.3
    • HCO3: 10-14
  • MODERATE
    • pH: 7.1-7.2
    • HCO3: 5-9
  • SEVERE
    • pH: <7.1
    • HCO3: <5
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12
Q

What “criteria” do you usually need to diagnose DKA?

A
  • Diabetes (random BG ≥11.1)
  • Acidosis (pH <7.3 or HCO3 < 15)
  • Ketosis (urine or serum)
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13
Q

When should you consider Hyperosmolar Hyperglycemic State (HHS)?

A
  1. Glucose ≥33
  2. HCO3 >15
  3. Minimal acidosis/ketosis (negative or trace urine ketones)
  4. Osmolality ≥330 mOsm/L
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14
Q

Who should be screened for T2DM?

A
  1. ≥3 RFs prepubertal (≥2 pubertal)
    • Obesity
    • High-risk ethnic group
    • 1˚ relative with T2DM +/- IDM
    • Signs or symptoms of insulin resistance
  2. PCOS
  3. Impaired fasting glucose or glucose tolerance
  4. Use of atypical antipsychotic medications
  5. Discrepancy between A1C and FPG/RPG
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15
Q

When should you start basal insulin in T2DM?

A
  • At diagnosis if A1C ≥9.0
  • if initial A1C <9.0 but do not achieve glycemic target (≤7.0) within 3-6 months.
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16
Q

List 4 risk factors for transient hypoglycemia

A
  1. SGA
  2. Prematurity
  3. IUGR
  4. Perinatal stress (birth asphyxia, preeclampsia, sepsis)
  5. Polycythemia
  6. IDM
  7. Maternal drug exposure (e.g. sulfonylureas, tocolytics)
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17
Q

What is the classic triad of McCune-Albright syndrome?

A
  1. Polyostotic fibrous dysplasia
  2. Precocious gonadarche
  3. Hyperpigmented macules (CALMs)
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18
Q

Provide “sick day” guidance to a parent of a child with type 1 diabetes

A
  • Never leave the child/teen to manage their diabetes when ill
  • Check BG and ketones q2-4h around the clock (even overnight)
  • Continue giving insulin + never miss a dose
  • If BG >14 + ketones present, make adjustments
    • Take 10-20% TDD as rapid insulin right away
  • Avoid dehydration - aim for 15g carbs/hour
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19
Q

What are the conditions associated with metabolic syndrome?

A
  • Elevated blood glucose
  • Hypertension
  • Dyslipidemia
  • Abdominal obesity
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20
Q

What features are in keeping with ketotic hypoglycemia of childhood?

How is it managed?

A
  • Age 2-5yo (spontaneously remits before 10yo)
  • Presents with fasting hypoglycemia
  • Negative work-up
    • Expect to find:
      • ↑ketones, ↑FFA, ↑growth hormone, ↑cortisol.
      • ↓insulin, ↓alanine
      • Normal carnitine, lactate, pyruvate
  • No response during hypoglycemic event when glucagon is given

Management

  • Preventing hypoglycemia with high-protein, high-carbohydrate diet
  • Home monitoring for urinary ketones
  • Cornstarch at bedtime
21
Q

What age cut-offs are considered:

  • precocious puberty?
  • delayed puberty?
A

Precocious puberty

  • Female: <8yo
  • Male: <9yo (testicular volume >4mL)

Delayed puberty

  • Female:
    • thelarche: no signs by 13yo
    • menarche: no signs by 15yo
  • Male: no testicular/penile growth by 14yo
22
Q

What is the most common cause of peripheral precocious puberty?

What is the most common cause of central precocious puberty in females and males?

A
  • Peripheral: McCune-Albright Syndrome
  • Central
    • Females: Idiopathic
    • Males: CNS disorder
23
Q

What investigations would you order to investigate precocious puberty?

A
  • Labs
    • LH/FSH
    • Testosterone, estradiol, DHEAS or androstenedione
    • TSH, fT4
    • 17-OH progesterone
  • Imaging
    • Bone age
    • MRI brain - if male or female <5yo
    • Pelvic US in females if menarche
24
Q

What investigations would you order for concerns regarding virilized female genitalia?

A
  • Labs
    • 17-OH progesterone
    • Testosterone
    • LH/FH
    • ACTH
    • Renin
    • Electrolytes
    • glucose

Causes

  • CAH
  • Virilizing maternal disease
  • Maternal androgen use
  • Ovotesticular DSD, XX testicular DSD, gonadal dysgenesis
25
Q

What investigations would you order for concerns regarding undervirilized male genitalia?

Micropenis: stretched penile length <2.5cm (Hamilton Review) [<1.9cm Nelson]

A
  • Labs
    • testosterone, dihydrotestosterone (hCG stimulation)
    • LH, FSH
    • Mullerian inhibiting substance
    • electrolytes
    • glucose

Causes

  • Leydig cell failure
  • Testosterone biosynthetic defect
  • 5alpha reductase deficiency
  • Androgen receptor disorder
  • Gonadal dysgenesis (45X, 46 XY)
  • Rare forms of CAH
26
Q

What is the most common cause of congenital hypothyroidism?

A

Thyroid dysgenesis

(abnormal formation of the thyroid)

27
Q

List 8 signs and symptoms of congenital hypothyroidism

A
  1. Lethargy
  2. Hypotonia
  3. Hoarse cry
  4. Feeding problems
  5. Constipation
  6. Macroglossia
  7. Umbilical Hernia
  8. Dry skin
  9. Hypothermia
  10. Prolonged jaundice
  11. Possible increased head circumference
  12. Large posterior fontanelle (>1cm)
  13. Goiter
  14. Abdominal distention
28
Q

Which antibody tests would you order when suspicious of Hashimoto thyroiditis?

When should you order an ultrasound of the thyroid in someone with this condition?

A
  1. Anti-TPO (thyroid peroxidase)
  2. Anti-thyroglobulin

Ultrasound (an I-123 scan should show ↓ uptake)

  1. Asymmetric gland
  2. Palpable nodule
  3. Large goiter (concern unable to palpate nodule)
29
Q

Which antibody tests are ordered when considering a diagnosis of Graves’ disease?

Why is propylthiouracil not used in paediatric management of Graves’ disease (except in cases of severe side effects to methimazole)?

A
  1. TSI (thyroid stimulating immunoglobulin)
  2. TRAbs (thyrotropin receptor binding inhibitor immunoglobulins)

Concerns regarding irreversible hepatotoxicity

30
Q

You have diagnosed congenital hypothyroidism. Describe your management plan including follow-up investigations.

A
  • Start levothyroxine treatment 10-15µg/kg/day
    • Can be crushed and suspended in a couple mL of milk, water or formula
    • Avoid concomitant administration of soy, iron or fibre to assist with absorption
  • Goal is to maintain fT4 in upper half of normal range on therapy
  • Follow-up labs to assess treatment at 2 and 4 weeks, then
    • q1-2mo for first 6 months of life
    • q3-4mo from 6mo-3yo
    • q6-12mo until growth completed
  • Can consider trial off medication after 3-4yo if euthyroid status maintained without any dose increase
31
Q

List 2 conditions that are at increased risk for hypothyroidism

A
  1. Trisomy 21
  2. Turner syndrome
  3. Type 1 Diabetes
  4. FMHx of autoimmune thyroiditis or other autoimmune diseases
32
Q

What makes management of central hypothyroidism different?

A

You need to aim for normalization of fT4 and can’t trend TSH levels.

It is not identified on a newborn screen.

33
Q

What 2 conditions are associated with resistance to thyroid hormone?

A
  1. ADHD (50%)
  2. Deafness (20%)
34
Q

What are 2 side effects associated with methimazole?

How is it monitored?

What do you need counsel patients about regarding this medication?

A
  1. Cholestasis
  2. Granulocytopenia (usually within 3mo of initiation)
  3. Drug-induced rash

Monitoring:

  • Baseline: CBC, LFTs as baseline → repeat after 8wks + with increases

Counselling: seek medical attention if develop unexplained fever, sore throat, mouth sores, jaundice or arthritis

35
Q

What is are the 2 most common types of thyroid cancers?

A
  1. Papillary
  2. Follicular

Medullary is seen with MEN2a and MEN2b. Arises from parafollicular C cells

36
Q

List 3 history or features that would make you concerned for thyroid cancer with a thyroid nodule

What investigations would you order?

A
  1. History of head/neck irradiation or nuclear accident with thyroid exposure
  2. “Solid” nodule on ultrasound
  3. “Cold” nodule on radioiodine scanning
  4. Consistency is different than rest of thyroid gland
  5. Rapid growth, hoarseness (recurrent laryngeal nerve involvement)

Investigations

  • Labs
    • TSH, fT4
    • if concern for medullary thyroid CA - calcitonin
  • Imaging
    • Neck US
    • Fine needle aspiration biopsy (most common dx step)
    • Excisional biopsy
    • Thyroid scan - If ↓TSH, consider for possible benign hyperfunctioning nodule
37
Q

What is the difference between rickets and osteomalacia

A

If growth plates are closed = osteomalacia

If open growth plates = rickets

38
Q

List 6 signs and symptoms of rickets

What x-ray findings are consistent with rickets?

A
  1. Short stature
  2. Poor growth
  3. Deformities
  4. Bone pain
  5. Pseudofractures/fractures
  6. Bone-related abnormalities
    • Delayed fontanelle closure
    • Parietal and frontal bossing
    • Craniotabes
    • “Rachitic rosary” (enlargement of costochondral junction, beading along anterolateral chest)
    • Leg bowing with varus/valgus deformities with weight bearing
    • Widening of joints at wrists and ankles
  7. Enthesopathy caused by calcification of tendons or ligaments
  8. Harrison’s grooves

X-ray

  • Widening of the physes with metaphyseal fraying, cupping and irregularity
  • Bowing deformities
  • Generalized demineralization
39
Q

What are the cut-offs for overweight/obesity?

A
  • Overweight
    • <5yo: >97th percentile
    • ≥5yo: >85th percentile
  • Obesity
    • ​<5yo: >99th percentile
    • ≥5yo: >97th percentile; severe obesity - >99th percentile
40
Q

What is the most common cause of female ambiguous genitalia?

What is the most likely diagnosis when there is ambiguous genitalia but bilateral palpable gonads?

If perineoscrotal hypospadias and bilateral cryptorchidism, what would you be concerned for?

What is the most common type of CAH?

A

Congenital adrenal hyperplasia

Partial androgen insensitivity

5-alpha reductase deficiency

Salt-wasting (70%)

41
Q

List 2 management strategies for a toddler who is falling off the growth chart

A
  1. Optimize caloric intake when found to be inadequate
  2. When behavioural issues interfere with nutrition, consult a psychologist or OT/SLP PRN
42
Q

What is the most common cause of faltering growth in a toddler?

A

Inadequate caloric intake

43
Q

List 4 etiologies for a toddler who is falling off the growth curve

A
  1. Nutritional/caloric intake may be inadequate (poor intake, anorexia 2˚ chronic disease, eating/oral skills lacking)
  2. Increased energy losses (emesis, malabsorption [pancreatic disease, cholestatic liver disease, intestinal disease]
  3. Increased energy needs - Chronic/recurrent infection, chronic condition (CHF)
  4. Endocrine problem - GH deficiency, hypothyroidism
  5. Growth failure (rare) - RTA, diencephalic tumour
44
Q

What is the recommended initial investigations for a toddler who is falling off the growth chart?

A
  • Step one
    • CBC/diff, ESR/CRP
    • Lytes, VBG, glucose
    • BUN/CR
    • Total protein, albumin,
    • Iron studies, ferritin
    • Calcium, phosphorus, ALP,
    • Liver enzymes (AST, ALT, GGT),
    • Serum immunoglobulins,
    • IgA, anti-TTG,
    • TSH,
    • Urinalysis
  • Step Two
    • ​Sweat chloride
    • Vitamin levels
    • Fecal elastase
    • Bone age
  • Step Three
    • ​refer to specialist
45
Q

What are 2 indications for use of an NG tube in a toddler who is falling off the growth chart?

A
  1. Unsafe to feed orally
  2. If underlying disease is worsened by their poor nutritional status
46
Q

List 3 barriers to safe/effective management of hypoglycemia in children with T1DM at school

List 4 recommendations for schools regarding the management of children with T1DM

A
  1. Incomplete training of school personnel
  2. Unscheduled activity and inactivity
  3. Altered meal or snack times
  4. Lack of rapid access to glucose meter and/or emergency treatment supplies

Recommendations

  1. ≥2 school personnel trained to provide support if ≥1 student with diabetes
  2. Schools should provide a safe, clean area for self-care
  3. Supervised snacks and meals to ensure they are eaten on time and in full
  4. Teacher/supervisor should know how to recognize and treat hypoglycemia
  5. Provide accommodations for tests - kit at desk for hypoglycemic event - granted 30-60min if low for cognitive recovery
  6. Attendance incentive policies should not be applied when they need to attent appointments
47
Q

What are the features in MEN1, MEN2A and MEN2B?

A
48
Q

What are the similarities and differences between Androgen Insensitivity and 5-alpha reductase?

A

Similarities:

  • Chromosomes XY
  • Present at birth with female genitalia (some degree of virilization if incomplete AI and 5AR - ie. micropenis, cryptorchidism, etc)
  • Internal testes
  • Sparse facial hair/pubic hair at puberty
  • Elevated testosterone levels, esp at puberty

Differences:

  • AI = X linked, 5AR = auto recessive
  • AI is problem with androgen receptor; 5AR is problem with converting testosterone to DHT
  • Both have testes, but 5AR also has all other male internal organs
  • In 5AR, can have sudden virilization at puberty (because testosterone overloads and some gets converted to DHT)
  • In AI, usually have breast development at puberty, but amenorrhea (because DHT gets aromatized so get secondary characteristics)
  • In AI, have normal DHT levels but in 5AR would have decreased DHT