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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
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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
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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
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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
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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
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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
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26
Q

What is the most common cause of congenital hypothyroidism?

A

Thyroid dysgenesis

(abnormal formation of the thyroid)

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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
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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)
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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

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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
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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
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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.

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33
Q

What 2 conditions are associated with resistance to thyroid hormone?

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

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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

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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
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37
Q

What is the difference between rickets and osteomalacia

A

If growth plates are closed = osteomalacia

If open growth plates = rickets

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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
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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
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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%)

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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
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42
Q

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

A

Inadequate caloric intake

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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
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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
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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
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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
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47
Q

What are the features in MEN1, MEN2A and MEN2B?

A
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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
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49
Q

2 year old child is adopted by obese parents. What can be said about this child? a) Child will almost certainly be obese, irrespective of biological parents. b) Child will be thin if biological parents are thin c) Obesity associated with higher socioeconomic status d) Obese as infant = 90% chance of being obese adult

A

b) Child will be thin if biological parents are thin Obesity RF: - higher maternal education protective - low SES increases risk - risk more strongly conferred by biological than adoptive parents

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50
Q

A 12-year-old girl has a bone age of 11 years. All of the following might be expected EXCEPT: a) menses b) increased growth velocity c) breast development d) axillary hair e) acne

A

a) menses - stages of puberty (females): thelarche (breast bud development; 10-11 years) —> pubarche (pubic hair; 6-12 months later) —> increased growth velocity (always precedes menarche) —> menarche (2-2.5 years, may be up to 6 years) - stage of puberty is more accurately predicted by bone age than chronological age

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51
Q

Which of the following is true in puberty? a) menstruation at Tanner stage IV b) maximum penile growth at Tanner stage II c) axillary hair in males at Tanner stage III d) voice change at Tanner Stage III e) Double breast contour in girls at Tanner stage III

A

a) menstruation at Tanner stage IV

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52
Q

Which of the following has the latest onset of pubertal changes in girls: a. Axillary hair b. Menarche c. Breast development d. Increased growth velocity

A

b. Menarche

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53
Q

Mechanism of action for insulin: a) glycogen synthesis b) gluconeogenesis c) lipolysis d) ketogenesis e) cAMP

A

a) glycogen synthesis (gluconeogenesis triggered by glucagon)

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54
Q

Picture of growth curve tracking parallel but below 5 th percentile. Most likely: a. Russel-Silver syndrome b. constitutional growth delay c. familial short stature d. CF e. chronic renal failure

A

c. familial short stature

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55
Q

The use of growth hormone has yielded positive results in which condition: a) familial short stature with height <2 standard deviations below the mean for age b) constitutional short stature with height <2 standard deviations below the mean for age c) growth hormone deficiency in girls after epiphyseal closure d) Turner syndrome e) Down syndrome

A

ANSWER: d) Turner syndrome Indications for GH therapy: - GH deficiency - Turner - idiopathic <2.25SD below mean, corrected for bone age - SGA without catch up by 2 years - Prader-Willi - Noonan - chronic renal failure before transplant

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56
Q

9-year-old girl with growth velocity 2 cm/yr for the past 2 years. Best diagnostic investigation: a) TSH b) CT head c) AM and PM cortisol d) nocturnal growth hormone level

A

ANSWER: a) TSH - hypothyroidism is the most common endocrinopathy - lowest normal prepubertal growth is 5cm/year Note: b) CT head - to assess for craniopharyngioma (growth pattern is a normally growing kid who growth then falls off but weight is preserved) c) AM and PM cortisol - Cushing disease; would usually just screen with an AM cortisol d) nocturnal growth hormone level - recommended test for GH deficiency is IGF-1 as a screen and then GH stimulation test

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57
Q

Features of constitutional short stature include all EXCEPT: a) adequate nutrition b) normal CT of sella turcica c) growth velocity < 3 cm/yr d) bone age delayed by 1.5-4 years

A

c) growth velocity < 3 cm/yr should have normal growth velocity (parallel curve, just below it)

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58
Q

27 mos girl bone age 17 mos, short stature. Graphs show N BW now 3rd for ht and wt a constitutional b familial c growth hormone deficiency d malnutrition

A

a constitutional

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59
Q

Who should get GH studies? a. Short kid with tall parents b. All children below 3 rd percentile c. Children with > 3SD below the mean d. Growth of 6cm/year

A

c. Children with > 3SD below the mean

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60
Q

A 9 year old boy who used to be about average height in his class is now becoming one of the smallest. His height has dropped for the 25 th to the 10 th percentile and his weight has dropped from the 25 th to the 5 th percentile. Which of the following tests is most likely to help in making the diagnosis: a. TSH b. IGF-1 level c. Anti-tissue transglutaminase antibody

A

c. Anti-tissue transglutaminase antibody

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61
Q

14 yo boy with short stature. Both parents are normal height. He is 5 th %ile for both ht and wt. He is tanner 2. What is your next test. 1. random growth hormone 2. bone age 3. cortisol level 4. testosterone level

A
  1. bone age
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62
Q

9 year old girl has just had the onset of her first menses. Parents are concerned about her final height. What do you do? a. Tell them that she will grow another 5 cm b. calculate mid-parental height c. do a karyotype d. do a bone age

A

a. Tell them that she will grow another 5 cm

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63
Q

In which of the following situations is growth hormone testing indicated: a. All children below the 3 rd /5 th percentile b. Children with growth velocity less than 6 cm/year c. Children with a height is greater than 3 SD below the mean

A

c. Children with a height is greater than 3 SD below the mean

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64
Q

6 year old child who was growing 2 cm/year, height now <5th percentile and 50% for weight. Bone age 4 years. Diagnosis? a. Celiac disease b. GH deficiency c. Turner syndrome

A

b. GH deficiency c. Turner syndrome Could be either - Turner usually starts to fall off around age 6 so if ongoing for longer may be more likely GH deficiency; if female may be more likely Turners

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65
Q

6 year old Short child growing along the third. Bone age is 4 years. No change in his growth velocity. Otherwise well. Gaining weight normally. What is the cause of his short stature? Mom is 160 cm dad is 180 cm calculate the mid parental height.

A
  1. cause: constitutional growth delay 2. MPH = 180+160+13/2 = 176.5cm
66
Q

Child born term, bw normal, down to 3 rd percentile by 12 mos, growth chart shown with ht and wt both following 3 rd percentile. Parents heights given - both short. Diagnosis?

A

familial short stature

67
Q

Kid who has bone age of 12. Calculate mid parental height. Mom was 157cm, dad was 180 cm.

A

MPH = 162 if female, 175 if male

68
Q

Picture of a growth curve showing a 9 year old girl who has maintained the 25 th percentile for weight from ages 3-9 years but who has fallen off the height curve from the 25 th percentile (from ages 3-7 years) to below the 3 rd percentile (at 9 years). What is the most likely cause?

A

Hypothyroidism (most common endocrinopathy), could also be GH deficiency or Turners. Screen with TSH AND fT4 When growing normally and then height falls off while weight is preserved, think about and endocrinopathy. Constitutional delay, growth starts to slow at around 3 years

69
Q

Child with micropenis. Best test to determine sex of rearing a. Y chromosome (karyotype) b. testosterone level c. hypospadias d. palpable gonads e. size of phallus

A

a. Y chromosome (karyotype) Investigations for micropenis: - karyotype - assess pituitary function - assess testicular function - MRI (hypothalamic or pituitary lesions)

70
Q

Which of the following is most important in assigning sex of rearing: a. level of testosterone b. chromosomes c. if testes are descended d. gonadotropin levels

A

b. chromosomes

71
Q

Which deficiency might be found in a female infant with clitoromegaly: a) 21-hydroxylase b) alpha-1-antitrypsin c) phenylalanine hydroxylase d) pyruvate kinase e) cystathionine

A

a) 21-hydroxylase - most common enzyme deficiency in CAH (test 17-OHP to diagnose)

72
Q

A patient with XX, absence of testosterone, absence of SRY, and absence of Mullerian inhibiting hormone will have what gender phenotype?

A

female (SRY leads to formation of testes, MIS prevents formation of uterus, fallopian tubes and proximal vagina so if you DO NOT have it you’ll be a normal female)

73
Q

A patient with XY, androgen production, SRY and anti-mullerian hormone production will have what gender phenotype?

A

male

74
Q

Androgen insensitivity syndrome occurs due to: a) decreased peripheral sensitivity to testosterone b) decreased production of testosterone c) impaired conversion of testosterone precursors

A

a) decreased peripheral sensitivity to testosterone All have testes and normal or elevated testosterone and LH

75
Q

A 1 week old female infant has ambiguous genitalia, vomiting and lethargy. Which of the following abnormalities are you likely to find on bloodwork: a. Metabolic acidosis b. Isolated hyperkalemia c. Hypokalemia and metabolic alkalosis d. Hyponatremia, hyperkalemia and metabolic alkalosis

A

a. Metabolic acidosis CAH blood work: hyponatremia, hyperkalemia, metabolic acidosis - deficiency in cortisol and aldosterone, while having too much androgens

76
Q

A mother had amniocentesis due to advanced maternal age, with a karyotype of XY. The baby is born and is a normal female. What is the most likely etiology of this: a. Testicular feminization (aka AIS) b. Chimera c. Impossible situation d. Maternal karyotype

A

a. Testicular feminization (aka AIS)

77
Q

A 3 week old female presents with ambiguous genitalia, vomiting and lethargy. Which of the following tests do you recommend for diagnosis: a. Aldosterone b. 17-OHP c. Cortisol

A

b. 17-OHP

78
Q

What lab test would most likely be elevated in a child with the genitalia pictured. – picture of ambiguous genitalia, looked like female virilization. 1. sodium 2. potassium 3. cortisol 4. aldosterone 5. glucose

A
  1. potassium
79
Q

Child with perineoscrotal hypospadias , enlarged phallus, non-palpable testicles. a. congenital adrenal hyperplasia b. 5-alpha reductase deficiency c. partial androgen insensitivity d. normal male

A

Could probably be any of: b. 5-alpha reductase deficiency OMIM/Orphanet seem to associate perineoscrotal hypospadias with 5-alpha reductase specifically; need functional 5a to fuse scrotum

80
Q

Newborn with ambiguous genitalia. Phallus is 2 cm, labia are fused. What is the most likely diagnosis (1) ? What test would give you the answer (1) What acute complication is this child susceptible to?

A
  1. CAH 2. 17-OHP 3. salt wasting crisis
81
Q

Which is true regarding lymphocytic thyroiditis: a) intrathyroidal infiltration primarily by B cells b) anti-thyroglobulin antibodies are commonly present c) TSH is always elevated early in the course d) thyroid microsomal antibodies (now called antiTPO abs) are present in the majority of children e) TSH antibody is present

A

d) thyroid microsomal antibodies (now called antiTPO abs) are present in the majority of children (90%) lymphocytic thyroiditis = AKA hashimoto or autoimmune thyroiditis; infiltration 60% T cells, 30% B cells antithyroglobulin abs positive in less than half of cases; TSH antibody in 18%

82
Q

What is the best way to monitor effectiveness of thyroid replacement in autoimmune thyroiditis? a. T4 b. Free T4 c. T3 d. TSH e. Antibody

A

d. TSH

83
Q

Which is used to determine the initial dose of replacement therapy in lymphocytic thyroiditis: a) TSH b) T3 c) T4 d) free T4 e) thyroid antibodies

A

d) free T4

84
Q

A 10-year-old girl has an enlarged asymptomatic thyroid. Most likely: a) Hashimoto’s thyroiditis b) Graves’ disease c) congenital goiter d) carcinoma

A

a) Hashimoto’s thyroiditis

85
Q

Family with hypothyroidism on Synthroid bring daughter with growth 5 cm/year. Normal exam. What to do? a) TSH, T4 b) T4, T3 c) fT4, T4 d) Nothing

A

d) Nothing

86
Q

All are seen in hypoparathyroidism EXCEPT: a) hyporeflexia b) increased intracranial pressure c) carpopedal spasm d) candidiasis e) nonspecific EEG changes

A

a) hyporeflexia hypopara leads to hypoCa = hyperreflexia - muscular pain and cramps - progressing numbness, stiffness, tingling hands and feet - carpopedal spasm, seizures - mucocutaneous candidiasis - headache, vomiting, increased ICP, papilledema - cataracts - keratoconjunctivitis

87
Q

3 mo with constipation since birth, now FTT. What hormonal test would be best?

A

TSH (congenital hypothyroidism)

88
Q

A 12 year old girl is falling of her height curve. She has also gained weight recently and is cold-intolerant. What test would you order? a) TSH b) GH c) a.m. cortisol d) TTG

A

a) TSH

89
Q

Newborn with a TSH of 25. What do you do? a. start thyroxine b. repeat neonatal screen c. bring them into the office as soon as possible d. thyroid ultrasound

A

c. bring them into the office as soon as possible need to have confirmatory testing done and be started on thyroxine, but do need to clinically assess first; if TSH >40 start thyroxine immediately after confirmatory testing is drawn (do not wait for test results)

90
Q

Newborn’s TSH screen comes back as 25 ( N less than 20). What is the most likely cause of a false positive screen ( l line). What is the most likely cause of a false negative screen (1 line). List 3 investigations to work up congenital hypothyroidism.

A
  1. false positives: prematurity, screening before 24 hours of age 2. false negatives: critical illness, post-transfusion 3. investigations: o TSH + free T4 o US or thyroid scan to determine location and size of thyroid tissue o TPO antibodies
91
Q

Asymptomatic goiter. What is your management. a. See in 6 monhts b. Thyroid ultrasound c. TSH

A

c. TSH

92
Q

What is best test to determine initial dose of thyroid replacement in Hashimoto’s a) TSH b) T4 c) fT4

A

a) TSH subclinical (high TSH, normal T4)= controversial= most tx until growth and puberty and R/A so no impact on brain or growth; if TSH high and T4 low, definitely treat

93
Q

Teenaged girl has decreased growth and weight gain, and goitre. What is her specific diagnosis? (1) What test would you do that is specific to the diagnosis (1)?

A
  1. Hypothyroidism, likely secondary to hashimoto thyroiditis 2. antiTPO antibodies
94
Q

Child diagnosed with Graves disease, symptomatic with hand tremors. Enjoys painting! Medications x2

A
  • propranolol - antithyroid medications take weeks to work. so beta blockers can control symptoms in the meantime - methimazole - radioactive iodine or surgical resection are curative but will leave lasting hypothyroidism
95
Q

15 yo obese black male presents with polyuria, abdominal pain, and vomiting. Blood glucose is 40, bicarb 21, and Ketone 1+. What is the most likely diagnosis? a) DM1 b) DM2 c) Hypercortisolemia

A

b) DM2

96
Q

Diabetic with microalbuminuria. What would you prescribe? a. Enalapril b. Hydrochlorothiazide c. Nifedipine d. Salt and water restriction

A

a. Enalapril ACE inhibitors halt progression of diabetic nephropathy; microalbuminuria is a good early screen for renal dysfunction

97
Q

Diabetic going to OR. NPO since midnight. BS is now 5. To get IV D5NS. What are your insulin orders? a. Keep same NPH, R b. Don’t give R, give 50% NPH c. Give 50% of R, no NPH

A

b. Don’t give R, give 50% NPH - important to give IV insulin infusion and fluids with dextrose in OR to prevent hypoglycaemia and DKA - if have long acting basal (lentos) give regular dose the night before - if use NPH/lente as nasal then give half of usual dose the mooning of surgery

98
Q

Picture of acanthosis nigricans in obese Native adolescent. A) Identify picture. B) What condition causes this?

A

B) acanthosis is sign of insulin resistance and is part of metabolic syndrome (may have T2DM)

99
Q

15 y.o. male presents with two week history of polyuria, polydypsia and weight loss. You diagnose diabetes mellitus. A) If the child has DM1, what is required for diagnosis? B) What is the BEST method to screen for diabetic nephropathy? First morning urine for albumin to creatinine ratio (12y old or 5y after diagnosis, annually) C) When do you send this child for ophthalmology assessment to screen for retinopathy? 15y old if >5y from diagnosis, annually

A

A) If the child has DM1, what is required for diagnosis? Fasting blood sugar of >7.0, random blood sugar of >11, or HbA1c >6.5 B) What is the BEST method to screen for diabetic nephropathy? First morning urine for albumin to creatinine ratio (12y old or 5y after diagnosis, annually) C) When do you send this child for ophthalmology assessment to screen for retinopathy? 15y old if >5y from diagnosis, annually

100
Q

You are managing a child who presented to your emergency department in DKA. Suddenly she develops a decreasing level of consciousness, and on CT scan there is cerebral edema noted. a. Name 2 errors that you could have made in your management that would have contributed to this complication b. Name 2 risk factors for this complication.

A

a. - Early insulin infusion (within 1st hour of starting fluids), insulin bolus, high volumes of fluid/fluid boluses and use of bicarbonate b. RF for cerebral edema: - age <5 years - new onset diabetes - high initial urea - low initial CO2

101
Q

Child with type 1 diabetes. Ate supper but missed pre-supper insulin (5R and 8N). About to take evening snack. Glucose 23.5. Mom calling for advice (4 lines).

A
  • Check for ketones - Drink fluids - Take insulin, (needs to correct for current BG and amount of carbs about to be consumed) - repeat BG in 1 hour
102
Q

15 year old boy with T1DM. You can only follow him in your clinic until 18 years of age. 5 things you would do to try to help him transition to adult care.

A
  • ensure follow-up during transition - continue seeing while he is waiting for initial assessment by adult service - organized transition services (possible joint clinic) - adolescent involvement in management (increasing levels of responsibility and information, see youth alone to promote autonomy) - adolescent and family understanding of diabetes and reasons for treatment - teach skills of negotiation and communication required in adult system - formal graduation - transition letter about new location, staff and what to expect
103
Q

10 year old 30kg girl presents in DKA. PH<7.25, Glucose 40, 10 % dehydrated. Current sodium is 120. What type of initial fluid would you give her? What would be the rate? What initial insulin dose/type would you start her on?

A
  • NaCl at 130cc/hr (maintenance plus deficit over 48 hours; 4ml/kg/h) - Insulin (rapid acting) infusion 0.1 U/kg/h 1-2 hours after IV fluid rehydration started
104
Q

Hypoparathyroidism can be seen in all EXCEPT: a) primary proximal renal tubular acidosis b) vitamin D-deficient rickets c) rickets with liver failure d) rickets with anticonvulsants

A

b) vitamin D-deficient rickets - can mimic hypopara but there is no actual impact on parathyroid hormones or glands

105
Q

3 week old has hypocalcemia. Most likely diagnosis?

A
  • transient hypoparathyroidism (due to natural fall)
106
Q

Child takes grandfather’s glyburide pills. Looks well but glu 1.7. What is your initial management (1 line)? How often would you check the glucose (1 line)? How long would you observe in hospital (1 line)?

A

Glyburide is sulfonylurea - increases release of endogenous insulin 1. give simple sugar PO (juice, dextrose fast tab), start IV, bolus 5ml/kg D10W; ECG - can prolong QT 2. Check glucose q1-2 until stabilized 3. observe x24h (duration of effect of glyburide)- D/C if maintaining glucose without support

107
Q

18 month old child with hypoglycemia and no ketonemia or ketonuria. What are the two most likely diagnoses?

A

Fatty acid oxidation defects Hyperinsulinism

108
Q

6 y.o. female with 6 month history of pubic hair development. No other secondary sexual characteristics. Bone age is 6 yr 6 months . Urine ketosteroids markedly increased. Urine hydroxysteroids normal. Serum gonadotropins, testosterone, 17-hydroxyprogesterone and ketosteroids normal. No change with dexamethasone challenge. Most likely diagnosis: a. CAH b. adrenal tumour c. physiologic adrenarche d. undisclosed exogenous source of steroids e. Cushing’s

A

c. physiologic adrenarche

109
Q

A 6 year old female with pubic hair. The is increased ketosteroids, normal 17-OHP, normal testosterone. After dexamethasone stimulation there is no increase in 17-OHP. The diagnosis is: a. CAH b. Premature pubarche c. Adrenal tumour d. Cushing syndrome e. Hyperthyroidism

A

b. Premature pubarche - increased basal and ACTH stimulated levels of DHEA, 17-hydroxypregnenolone and androstenedione (ketosteroids)

110
Q

A 6y F has pubic and axillary hair. No other signs of puberty. Where should you look for pathology a. Hypothalamus b. Pituitary c. Adrenals d. Ovaries

A

c. Adrenals

111
Q

2 y.o that presents with premature thelarchy. Bone age 3 yrs, 3 mos. How will she progress to puberty? a) Slow progression b) Fast progression c) Resolution at 3 yrs

A

c) Resolution at 3 yrs Benign premature thelarche can present with bone age advanced in 30% of kids >2 years beyond chronologic age

112
Q

Which is true regarding precocious puberty: a) it is more common in boys than girls b) final height is not affected c) the most common etiology in girls is idiopathic d) gonadotropins are invariably increased e) the sella turcica is often abnormal

A

c) the most common etiology in girls is idiopathic

113
Q

Which of the following investigations would you do in an 8 year old boy with the onset of puberty: a. Cranial imaging b. LH/FSH levels c. Testicular ultrasound

A

b. LH/FSH levels LH (basal in a.m.), FSH, either estradiol or testosterone (results help differentiate central and peripheral precocity) - central puberty implies activation of HPG axis and therefore LH and FSH are high - if central precocious puberty confirmed - get MRI

114
Q

6 year old girl with breast development, pubic hair development, advanced bone age of 10 years. What two investigations do you do for the diagnosis?

A

LH, FSH, estradiol - confirm central precocious puberty

115
Q

6 year old child with pubic hair. Bone age 6 1/2 years. Most likely dx? a. craniopharyngioma b. benign premature adrenarche

A

b. benign premature adrenarche Premature Adrenarche: ● ISOLATED development of pubic hair or body odour, mild acne with NO other signs of puberty (rapid growth or advancement in bone age aka no vaginal d/c or breast in F and no testicular enlargement in M)

116
Q

Pubertal gynecomastia is most likely associated with: 1. Tanner I 2. breast size < 4 cm 3. nontender breasts 1. breasts lasting for 3 years 2. testes < 3.5 cm

A
  1. breast size < 4 cm (this is talking about males obvi) gynecomastia prior to puberty PATHOLOGICAL (measure testicular volume. If < 4 cc= not in puberty).
117
Q

6 year old child with vaginal bleeding, no foreign body, no exogenous estrogen sources. Has bone age of 7.5 years, 17-OPH normal, what is dx a. CAH b. craniopharyngioma c. premature adrenarche

A

b. craniopharyngioma

118
Q

Which is an indication of delayed puberty? a) 15 yo girl with amenorrhea b) 12 year old girl with no axillary hair c) 13 yo boy with no pubic hair d) 15 yo boy with no voice change e) 13 yo girl with no menarche

A

a) 15 yo girl with amenorrhea Delayed Puberty: no menarche by 15 y.o. OR no secondary sexual traits by 13 y.o. for F or 14 y.o. for M.

119
Q

A 14 y.o. girl presents with concerns about delayed puberty. She has no breast development or pubic hair, and has never had a period. Her height is below the 3rd percentile for age, and her bone age is normal. Most likely diagnosis: a) Hypothyroidism b) Turner syndrome c) Androgen insensitivity syndrome d) Constitutional growth delay

A

b) Turner syndrome

120
Q

15 yo female with amenorrhea and falling off growth curve. List Ddx (4)

A

● Turner’s Syndrome ● Hypothyroidism ● Anorexia Nervosa (Functional hypothalamic amenorrhea) ● Athletic Triad ● Craniopharyngioma ● Chronic illness

121
Q

Delayed sexual behaviour in adolescence is associated with? a) precocious puberty b) poverty c) sexual abuse d) strict parenting

A

d) strict parenting

122
Q

A 12 year old boy notices a mass on one of his testicles. He has no other systemic symptoms. Which of the following investigations do you do first: a. Testicular scan b. Ultrasound c. Beta HCG & AFP

A

b. Ultrasound ● Serum tumour markers (i.e. alpha fetoprotein, beta HCG, chorionic gonadotropin) should also be drawn.

123
Q

An 8 month old boy is referred for unilateral cryptorchidism Why is an orchidopexy recommended? a) to prevent cancer b) to allow for easier examination of the testis c) to optimize fertility

A

c) to optimize fertility

124
Q

16 yo boy has admitted to using anabolic steroids. His testes appear small. Why are his testes small? (1 line) What test(s) would you do to confirm your suspicion of why testes are small.

A
  1. Negative feedback of anabolic/androgens on HPA axis 2. Testosterone, LH, FSH
125
Q

Girl with PCOS. what lab abnormalities would be expected? What clinical complaints would be expected?

A
  1. increased LH, decreased FSH; high androgens (serum testosterone, DHEAS; decreased sex hormone binding globulin) 2. increased LH = increased ovarian androgen production = acne, balding, hirsutism, rapid weight gain, insulin resistance, metabolic syndrome -decreased FSH = impaired folliculogenesis = oligomenorrhea (irregular periods or secondary amenorrhea)
126
Q

Mediterranean teen with coarse hair on chest, bum, legs, arms. Mod-severe acne. Most likely dx? a. CAH b. PCOS c. Familial hirsutism

A

b. PCOS Late onset 21-hydroxylase deficiency rare, but possible and needs to be ruled out in diagnostic work up

127
Q

The estrogen part of the OCP causes what? a. moodiness b. salt and water retention c. acne

A

b. salt and water retention

128
Q

Girl described…obese, irregular periods, acanthosis nigricans, increased facial hair. What is her most likely diagnosis?

A

PCOS

129
Q

What is the diagnostic criteria for PCOS?

A

2 of 3: - menstrual irregularities - oligomenorrhea (<8 periods per year) - physical or biochemical hyperandrogenism - polycystic ovaries

130
Q

16 year old girl with secondary amenorrhea. She was having normal periods since 13. She has not been on any medications. What are 6 possible causes of her secondary amenorrhea (3) What are two tests that can help in the investigation

A

Causes of secondary amenorrhea: 1. PCOS 2. anorexia/weight loss 3. pregnancy 4. hyperthyroidism 5. prolactinoma 6. autoimmune ovarian failure 7. Cushings 8. stress 9. exercise Ix: -beta-hCG, TSH, PRL, FSH, LH, ovarian U/S

131
Q

14 year old girl has severe dysmenorrhea and has missed 2-3 days of school with each period. What are three causes of dysmennorhea(3)? What two classes of medications would you prescribe for her (2)?

A
  1. Causes of dysmenorrhea: - idiopathic - endometriosis - uterine polyps - ovarian cyst - PID - IUD 2. Medications - combined OCP - NSAIDs
132
Q

Child presents to ER. Has septic optic dysplasia. Is in shock. Na 148 K 6.2 Glucose 3.2 After fluid resuscitation, what is your next step. a. Antibiotics b. IV hydrocortisone c. Glucose bolus d. D5 ½ NS at some rate

A

b. IV hydrocortisone Septo-optic dysplasia can have panhypopit so would need steroids for adrenal insufficiency (no release of ACTH from pituitary)

133
Q

McCune Albright question (description of girl with café o lait, short stature, etc.), what would you do? what are some typical presenting complaints of McCune-Albright? A. NF1 testing, B. endocrinopathy work up

A

B. endocrinopathy work up Café-Au-Lait spots (coast of Maine - large, do not cross midline); fibrous dysplasia of bones; precocious puberty endo findings: precocious puberty, hyperthyroid, hyperparathyroid, pitutary adenomas - increased GH, Cushing

134
Q

Kid presents with vaginal bleeding. You note she is Tanner 3, has cafe-au-lait patches and has a bump on her leg. Xray confirms fibrous dysplasia. What do you look for? a. neurofibromas b. other endocrinopathies c. cardiac echography

A

b. other endocrinopathies McCune-Albright - expect menarche with SMR 4

135
Q

Which of the following is a feature of primary nephrogenic DI? a. Mental retardation b. Male predominance

A

b. Male predominance

136
Q

Teenaged boy who has just had orthopedic surgery. Has been in the casts and on bedrest for 11 days. Suddenly develops anorexia, polydypsia and polyuria. Glucose is normal on admission, BMI 29. What is the diagnosis? What one test can give you the diagnosis (1) How is this managed?

A
  1. immobilization hypercalcemia 2. test: ionized calcium Basically you’re lying in bed doing nothing so your body decides to start breaking your bones down - you get high calcium which makes your stomach hurt and decreases your kidney’s ability to concentrate your urine - so you get dehydrated and feel thirsty and drink all the time 3. mgmt: IVF at 1.5-2x maintenance; lasix to help get rid of calcium
137
Q

3 wk male infant vx, lethargy, poor po intake, Na 118, K8, most important lab test: a vasopressin b 17 OHP c calcium d renin e cortisol

A

b 17 OHP CAH - salt wasting form - hyponatremia, hyperkalemia, metabolic acidosis

138
Q

Child fatigued and tanned, K 5.2, Na 132, glucose 2.6, shocky, vomiting and has diarrhea. What is used to treat the underlying condition? a. D5 0.25NS b. nothing c. NS 20 cc/kg d. IV hydrocortisone

A

d. IV hydrocortisone High K and low Na; shock + tan (melanocyte stimulating hormone - stimulated by ACTH production - is elevated) = Adrenal crisis

139
Q

Approach to treatment of adrenal insufficiency crisis (5 things):

A

Salt: restore volume - NS okay Sugar: treat hypoglycaemia Steroids: IV hydrocortisone Support: maintain BP (pressors PRN), PICU admission Search: look for underlying etiology

140
Q

Babe with CAH. Likely clinical picture? a . Non ambigious boy with low sodium and high K b . Virilized boy c. Virilized female with high sodium and high K

A

a . Non ambigious boy with low sodium and high K

141
Q

Kid with midline defect of septo optic dysplasia presents shocky, mottled, normal wccc, glc, Na 138, K 6, After fluids what is your next Rx? a) Abx b) IV Hydrocortisone c) hypotonic saline

A

b) IV Hydrocortisone (the point is adrenal crisis + midline defects; see below)

142
Q

Babe in shock with Na 131, K 5.9. What is the BEST thing to do right now? a. IV hydrocortisone b. NS bolus c. D10W d. D5W

A

b. NS bolus - bolus first given shock, then steroids

143
Q

Kid with salt wasting CAH. Has gastro. She takes hydrocortisone and florinef. Tolerated oral rehydration solution. Ready for D/C lytes are normal. What would be your suggestion on discharge.

A

Stress Dosing (30mg/m2) until well (§ HC 8-10mg/m2 for maintenance § Stress dose 20-30mg/m2 for illness § Stress dose 50-100mg/m2 for surgery/crisis)

144
Q

Male 3 weeks old. Presents with shock, hyperpigmented scrotum, low NA 115, K 6.8. What is your most important investigation? What is your immediate management?

A
  1. 17-OH-P 2. NS Bolus, Check glucose, IV Hydrocortisone
145
Q

Young child presents to the emergency room looking unwell with a sodium of 132 and potassium of 6.2. What is the diagnosis?

A

Adrenal Insufficiency

146
Q

When to intervene and counsel on risk of obesity: a. BMI > 75 kg/m2 b. BMI > 85 kg/m2 c. BMI > 90 kg/m2 d. BMI > 95 kg/m2

A

b. BMI > 85 kg/m2

147
Q

Obese teenager. What is she at risk for? 1. type 2 diabetes mellitus 2. delayed puberty 3. AVN of the femoral head 4. Thyroid problems

A
  1. type 2 diabetes mellitus
148
Q

FHX of hypercholesterolemia. Has high total cholesterol (6) and high LDL. What do you advise? a. lifestyle modification b. lifestyle modification + low fat diet c. lifestyle modification + statin d. lifestyle modification + cholestyrine.

A

b. lifestyle modification + low fat diet

149
Q

14 yo female with BMI of 31. List 4 things that you should screen her for.

A
  • Glucose intolerance - Hypertension - Hyperlipidemia - Fatty Liver - OSA - Depression/anxiety - Hypothyroidism (as cause)
150
Q

Child who is 120 cm and 28.8 kg. In your office. He complains of being tired during the day. Has occasional headaches at school. Snores at night. Calculate his BMI. BMI chart provided for him. What do you think of his BMI? (he plots directly on the 97 percentile). What would you be concerned about IN THIS PARTICULAR PATIENT?

A

BMI= 28.8/1.2x1.2= 20= 97%ile= obesity, OSA

151
Q

A description is given of an early-adolescent girl who is overweight. She is wondering what her ideal body weight should be.

A

BMI < 85%ile Could also look at weight for heigh graph - 50th percentile

152
Q

Child with BMI over 31. What are 5 diseases that he is at risk for (3)?

A
  • OSA - hyperlipidemia - hypertension - T2DM/glucose intolerance - MSK issues - Blount’s disease, SCFE - Fatty liver disease - (PCOS - female) - pseudotumour cerebri - psychosocial difficulties
153
Q

What are the diagnostic criteria for metabolic syndrome?

A

3 of: - Tg >1.7mmol/L - HDL <1.03 mmol/L - BP >90%ile or >130/85 - Glucose >5.6 mmol/L or Diabetes 2 - Waist circumference >90%ile

154
Q

Vitamin D deficient Rickets, what will be low? a. ALP b. PTH c. Vit 1-25 OH vitamin D d. Vit 25 OH vitamin D

A

ANSWER: d. Vit 25 OH - Low in vitamin D deficiency Rickets (due to low endogenous vitamin D) a. ALP (UP because lots of bone turnover) c. Vit 1-25 OH - Low in vitamin D dependent rickets (which is reduced activity of 25 (oh) 1-alpha-hydroxylase)

155
Q

Vitamin D dependent Rickets, what will be low? a. ALP b. PTH c. Vit 1-25 OH vitamin D d. Vit 25 OH vitamin D

A

c. Vit 1-25 OH vitamin D

156
Q

1 yo child with clinical symptoms of rickets. Ca and PO4 are low normal. He has widened physes. You start treatment with D3 for suspected vitamin D deficient rickets. When would you have the child return to assess the response to treatment (1 line). If he’s not responding, what other diagnoses would you consider (2). What blood test would you monitor to assess when you could decrease the vit D supplements.

A
  1. BW q2 weeks and xray q4 weeks (should normalize by 3 months) 2. Adherence, Enzyme deficiency, receptor malfunction, malabsorption, renal disease 3. 25, OHD
157
Q

18 mo immigrant child from Somalia. Bowed legs and wide wrists. What does he have? X ray given of wrist. What 3 other clinical signs

A
  1. Rickets 2. Rachetic Rosary, Craniotabes, frontal bossing, FTT, delayed dentition
158
Q

Description of a child with rickets (bowed legs, wide wrists). What are three laboratory tests that you would order?

A

Ca, PO4, ALP, PTH, 25OHD

159
Q

X-linked familial Rickets, what will be low? a. ALP b. PTH c. Vit 1-25 OH vitamin D d. calcium e. phosphate

A

e. phosphate (also called hypophosphatemic Rickets)

160
Q

4 effects of excess vitamin D

A

Excess vitamin D leads to hypercalcemia (hypervitaminosis D): - nausea, vomiting, anorexia - constipation and abdominal pain - HTN, short QT, torsades - hypotonia, lethargy, psychosis - polyuria, dehydration, nephrocalcinosis

161
Q

What are the components of Autoimmune Polyglandular syndromes?

A

APS 1: AIRE gene mutations

  • Mucocutaneous candidiasis (1st sign)
  • Hypoparathyroidism (usually before puberty)
  • Addison disease (usually in adolescents)

APS 2: Polygenic

  • Autoimmune thyroid siease
  • Addison disease
  • Type 1 Diabetes

RC Study Cards (23 decks)

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