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Pediatrics > Endocrinology > Flashcards

Endocrinology Flashcards

1
Q

What is the most common cause of childhood hypoglycemia?

A

Idiopathic ketotic hypoglycemia

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2
Q

Sick day principles for Diabetes

A

SICK

  • Sugar: Do glucose and ketone checks every 3-4 hrs
  • Insulin: take as normal
  • Carbs and fluid intake
  • Ketones:
    • If BG is 6-14 with ketones, give insulin and 10% TDD
    • If BG is 14-18, give insulin as normal
    • If BG is >18, give insulin and 20% TDD
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3
Q

What are some genetic conditions that present with primary adrenal insufficiency?

A
  • Idiopathic
  • Autoimmune
  • APECED (Autoimmune polyendocrinopathy syndrome type 1)
  • Adrenoleukodystrophy
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4
Q

Treatment of adrenal insufficiency must include what?

A
  • Hydrocortisone PO 10-15 mg/m²/24 hrs in 3 divided doses (or equivalent prednisone BID)
  • During situations of stress, dose of hydrocortisone should be increased 2-3x
  • Fludrocortisone PO 0.05-0.2 mg daily
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5
Q

What are the endocrinologic side effects of anabolic steroid use?

A
  • Decreased sperm count
  • Testicular atrophy
  • Gynecomastia
  • Menstrual irregularities
  • Virilization in women
  • Decreased glucose tolerance
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6
Q

What are the different types of calcium sensing receptor mutations?

A
  • Gain of function: higher set point for serum Ca; leads to hypercalcemia
  • Loss of function: unable to sense low Ca; leads to hypocalcemia
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7
Q

What are the serum thresholds for hypercalcemia?

A
  • Ionized >1.3 mmol/L

* Total >2.55 mmol/L

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8
Q

Provide a differential for hypercalcemia with low PTH?

A 
High Ca, low PTH (appropriate response)
• excess calcium ingestion
• vitamin D excess
• thyrotoxicosis
• bone malignancy
• Paget's disease
• adrenal insufficiency
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9
Q

Provide a differential for hypercalcemia with high PTH?

A

High Ca, high PTH (inappropriate response)
• primary hyperparathyroidism (MEN1 and MEN2A)
• tertiary hyperparathyroidism (renal failure)
• familial hypocalciuria hypercalcemia

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10
Q

When should children be screen for dyslipidemia?

A
  • between age 9 and 11 and age 17 and 21
  • at the age at least one risk factor is identified, then test every 1-3 years (fmhx of high cholesterol or premature CVD, obesity, PCOS, HTN, CKD, kawasaki disease, cancer, HCM, chronic inflammatory diseases like lupus)
  • for diabetes: at 12 and 17
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11
Q

What treatment should be started for children with hypercholesterolemia?

A

Cornerstone of treatment is lifestyle modification
• Diet low in saturated fats, transfats, cholesterol
• Reduced consumption of simple sugars
• Increased dietary intake of fruits and veg
• 1 hr of moderate physical activity daily
• Caregivers should participate

If LDL cholesterol remains >160 mg/dL, drug therapy should be considered

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12
Q

What is Pendred Syndrome?

A

Condition in which a gene mutation leads to improper encoding of chloride-iodide transport in thyroid and cochlea

  • results in familial goiter and neurosensory deafness (may be later in life)
  • may cause a goiter a birth
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13
Q

What is the differential for neonatal goiter?

A
  • Maternal antithyroid medication
  • Teratoma (especially if lobulated, asymmetric, firm or large)
  • Pedred syndrome
  • Iodine-containing medication i.e. amiodarone, certain asthma medications, Li
  • Iodine deficiency
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14
Q

When does a child:

  • regain birth weight?
  • double their birth weight?
  • triple their birth weight?
  • quadruple their birth weight?
A

“four”

  • FOURteen days
  • FOUR months
  • 3 X FOUR = 12 months
  • twenty FOUR months
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15
Q

With respect to height, what is 2 standard deviations?

A

8.5 cm in either direction of mid-parental height

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16
Q

Differential diagnosis for short stature with:
Normal Growth Velocity
Bone Age = Chronological Age

A
  • Familial short stature
  • Turner syndrome
  • IUGR
  • Spinal irradiation
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17
Q

Differential diagnosis for short stature with:
Normal Growth Velocity
Bone Age < Chronological Age

A
  • Constitutional growth delay

* Chronic disease

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18
Q

Differential diagnosis for short stature with:
Reduced Growth Velocity
Bone Age < Chronological Age

A
  • Growth hormone deficiency
  • Hypothyroidism
  • Hypogonadism
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19
Q

What is considered delayed tooth eruption and what are some potential causes?

A

No teeth by 13 months.

Hypothyroidism, hypoparathyroidism, familial, idiopathic, mechanical blockage (gum fibrosis, crowding), prematurity (<30 wks, <1000g)

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20
Q

What is the most common pituitary tumour?

A

Craniopharyngioma

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21
Q

What initial work up should be done for a boy presenting with gynecomastia?

A
  • Estradiol
  • Prolactin
  • Testosterone
  • TSH, free T4
  • DHEAS
  • Renal and liver function tests
  • LH, FSH
  • Beta hCG
  • Consider karyotype
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22
Q

What are some causes of hirsutism without masculinization?

A
  • Hyperandrogenism and anovulation - PCOS
  • Hyperandrogenism without anovulation - Benign functional androgen excess
  • Adult-onset adrenal hyperplasia
  • Increased hair in androgen-dependent areas without measurable androgen excess - idiopathic hirsutism
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23
Q

How to differentiate hirsutism and masculinization?

A

Hirsutism is the development of terminal, mature adult hair in areas dependent/sensitive to androgen.

In masculinization you will additionally see:
• Alteration in muscle mass
• Clitoral enlargement
• Voice change

24
Q

Common signs indicative of Cushing Syndrome?

A
  • Hypertension
  • Obesity
  • Moon faces (plethoric with rounded face, posterior fat hump)
  • Short stature
  • Amenorrhea
  • Abdominal striae
25
Q

In acquired pituitary dysfunction, which hormone is most susceptible to injury/dysruption?

A

Growth Hormone

i.e. in malignancy, radiation, traumatic injury, meningitis, histiocytosis

26
Q

How to confirm suspected growth hormone deficiency/insensitivity?

A
  • Low IGF level
  • Improper growth hormone stimulation test with 2 different stimulation agents (glucagon, arginine, insulin, clonidine)
  • Should also check TSH as more common and thyroid hormone is a precursor needed for GH
27
Q

8 medical conditions/indications for growth hormone replacement

A
  • Noonan Syndrome
  • Growth Hormone deficiency
  • Turner Syndrome
  • Prader Willi
  • SHOX gene abnormality
  • Idiopathic short stature
  • Chronic renal failure pretransplant
  • SGA before age 2
28
Q

List 6 potential adverse effects of Growth Hormone replacement

A
  • Primary/central hypothyroidism (on GH Tx) – periodic evaluation
  • Risk adrenal insufficiency – periodic evaluation
  • Risk T2DM (6x increase) – low insulin levels before treatment -> normalize during GH
  • Pseudotumor cerebri
  • SCFE
  • Gynecomastia
  • > Scoliosis
  • ?Increased risk death in Prader-Willi (severe obesity, OSA likely, recent URI) :. Do Sleep study in PWS before starting GH
29
Q

What is Lupron and what are the associated effects?

A

GnRH agonist; ongoing rather than pulsatile stimulation of LH and FSH seen during puberty

Effects:
• decrease of the growth rate, generally to age-appropriate values
• decrease of the rate of osseous maturation
• enhancement of the predicted height; actual adult height of patients followed to epiphyseal closure is approximately 1 SD less than their midparental height
• breast development may regress in those with Tanner stages II-III development; unchanged in girls with stages III-V development, or may even increase slightly because of progressive adipose tissue deposition
○ The amount of glandular tissue decreases
• pubic hair usually remains stable in girls, or may progress slowly during treatment; variable regression in boys
• menses, if present, cease
• pelvic sonography demonstrates a decrease of the ovarian and uterine size
• decrease of testicular size and in the frequency of erections

30
Q

What is the definition of amenorrhea?

A
  • Primary (absent menarche by 15yo)

* Secondary (absent menses >90d if previous N cycles vs. >6mo if Hx irregular cycles)

31
Q

Differential diagnosis for abnormal uterine bleeding?

A
  • Medications: OCPs/PCP/IUD, SSRI, antipsychotic medications, androgens, spironolactone
  • Endocrine: Thyroid dysfunction, DM, Cushing, hyperprolactinemia
  • Infection/PID
  • Structural abnormalities i.e. polyps, urethral prolapse
  • Trauma
  • Bleeding disorder i.e. vWD, thrombocytopenia, vitamin K deficiency
32
Q

What is the most likely cause of a false positive screen (hypothyroidism)?

A

• Done too early (<48h) – TSH physiologically elevated following postnatal TSH surge

33
Q

What is the most likely cause of a false negative screen (for hypothyroidism)?

A

• Low Sn to detect central hypothyroidism (if TSH based alone; even if T4 measured, may initially be above cutoff)

34
Q

What tests should be ordered for suspected hypothyroidism and how to interpret results?

A

Tests:
• TSH
• Free T4
• radionucleotide thyroid scan

  • High TSH & low fT4 = 1e hypothyroidism [treat immediately]
  • High TSH & normal fT4 = subclinical hypothyroidism [likely monitor to 6wk, no Tx immediately]
  • Low/N TSH & low fT4 = central hypothyroidism [start treatment promptly unless premature OR suspected systemic etiology]
35
Q

List 8 clinical symptoms of infant hypothyroidism.

List 4 Physical exam findings.

A
  • Feeding problems
  • Sluggishness,
  • Lack of interest
  • Choking spells when nursing
  • Somnolence
  • Respiratory difficulties may happen due to enlarged tongue
  • Constipation is common
  • Hypothermia
  • Genital and extremity edema can be present
  • Bradycardia
  • Short extremities
  • Wide-open fontanelle (especially posterior fontanelle)
  • Delayed dentition
  • Thick tongue
  • Signs of developmental delay
  • Prolongation of hyperbilirubinemia
  • Bradycardia
  • Umbilical hernia
  • Dry scaly skin
36
Q

What instructions should be given to the family with respect to thyroid replacement medications?

A
  • Must be given in tablet form; crushed just before administration
  • Do not give with soy milk/soy formula
  • Do not give with iron or calcium as this can interfere with absorption
  • Should be given with water on an empty stomach
  • If a dose is missed, should be given double the dose the next day
37
Q

What medications can lead to hypothyroidism?

A
  • Excess iodine-containing medications: Amiodarone, nutritional supplements, expectorants
  • Anticonvulsants: Phenytoin, phenobarbital, VPA
  • Antithyroid medication: Methimazole, propylthiouracil
  • Other: Lithium, interferon α, thalidomide
38
Q

What medication should be used to treat Graves’ Disease?

A

Methimazole

May use propylthiouracil to treat in pregnancy as it does not cross the placenta or into breast milk

39
Q

How should a thyroid nodule be investigated?

A
  • Thyroid nodules in children are unusual and thus should be investigated, not watched
  • Serum TSH (looking for hyperthyroidism) and a thyroid scan (123I or 99mTc-pertechnetate)
    • Assessing for possible benign hyperfunctioning thyroid nodule
  • Ultrasound
    • If a discrete nodule of large size is then identified, it should be biopsied by US-guided FNA
    • If biopsy is nondiagnostic, rpt
    • If there is indeterminate cytology or unilateral nodules are noted, lobectomy is indicated
    • If the lobectomy pathology reveals cancer, then complete thyroidectomy should be done
40
Q

What are the diagnostic criteria for T1DM?

A
  • fasting BG of >7.0
  • random BG of >11.0
  • abnormal glucose tolerance test
  • must be on at least 2 different occasions if asymptomatic
  • if symptomatic, any of those findings are adequate to make a new diagnosis of T1DM
41
Q

What are the diagnostic criteria for T2DM?

A
  • fasting BG of >7.0
  • random BG of >11.0
  • abnormal glucose tolerance test

• use of hemoglobin A1C is controversial, only to be used in conjunction with above tests

42
Q

When should children with T1DM be screened for:

  • Neuropathy
  • Nephropathy
  • Retinopathy
  • Hypercholesterolemia
  • Hypertension
  • Thyroid disease
  • Celiac disease
A
  • at age 15, or as long as 5 years have passed since diagnosis, whichever is longer (q yearly)
  • at age 12, or as long as 5 years have passed since diagnosis, whichever is longer (q yearly)
  • at age 15, or as long as 5 years have passed since diagnosis, whichever is longer (q2 years)
  • age 12 and age 17
  • q 6 months
  • at diagnosis and then every 2 years
  • if clinically indicated
43
Q

What targets should children with diabetes be aiming for with respect to their age categories?

A
  • Hb A1C <7.5%
  • 4-8 mmol/L

For everyone

44
Q

What dose of glucagon should be used for children when treating a low BG?

A

• Glucagon dose: 10 mcg per year of age (minimum 20 mcg; maximum 150 mcg)

45
Q

What are the criteria for screening for T2DM?

A 
CPS:
All of the following:
	• Aboriginal descent
	• BMI ≥ 85%ile
	• Age ≥10 years old
Any one of the following:
	• Sedentary lifestyle
	• Children born to mothers who had GDM
	• First- or second-degree relative with T2DM
	• Acanthosis nigricans
	• Dyslipidemia
	• Hypertension
	• PCOS

Canadian Diabetes Association
Consider every 2 years using a combination of an A1C and a FPG or random plasma glucose in any of the following conditions:
1. ≥3 risk factors in nonpubertal children beginning at 8 years of age or ≥2 risk factors in pubertal children:
• Obesity (BMI ≥95%ile for age and gender)
• High-risk ethnic group (e.g. African, Arab, Asian, Hispanic, Indigenous or South Asian descent)
• First-degree relative with T2DM and/or exposure to hyperglycemia in utero
• Signs or symptoms of insulin resistance (including acanthosis nigricans, hypertension, dyslipidemia, NAFLD [ALT >3X upper limit of normal or fatty liver on ultrasound])
2. PCOS
3. IFG and/or IGT
4. Use of atypical antipsychotic medications

If there is a discrepancy between the A1C and FPG or random plasma glucose, testing may be repeated or a 2-hour OGTT (1.75 g/kg; maximum 75 g) performed

46
Q

When should screening for comorbidities be done in children with T2DM?

A

Yearly screening for retinopathy, neuropathy, nephropathy, NAFLD, hypercholesterolemia, depression, PCOS

HTN screening at least BID/TID

47
Q

How to manage an ingestion of glyburide?

A
  • IV glucose infusion
  • Octreotide to prevent rebound hyperinsulinism
  • Observe in hospital for at least 24 hours
48
Q

What genes/gene regions are required for sex differentiation?

A

• SRY portion of Y chromosome: responsible for regression of mullerian structures via AMH and activating leydig and sertoli cells to produce testosterone, DHT and male androgen receptors

49
Q

What is the approach to a child with abnormal/ambiguous genitalia?

A
  • Must first decide if this is an undervirilized male or a overvirilized female
    • determine if gonads are present i.e. palpable or by U/S
    • may need to do U/S for internal structures
    • Karyotype
  • Should then rule out CAH using 17-OHP, androstenidione or other androgens and androgen precursors
  • Assess gonadotropin levels
  • Assess molecular genetics i.e. SRY gene
50
Q

What are the clinical features of Denys-Drash Syndrome?

A
  • ambiguous genitalia + gonadoblastoma
  • renal disease (proteinuria, ESRD by age 3)
  • risk of bilat Wilm’s Tumour
51
Q

What are the clinical features of WAGR Syndrome?

A
  • Wilm’s tumour
  • Aniridia
  • Genital abnormalities (usually in XY only)
  • Retardation
52
Q

What is the no. 1 DSD in females? Males?

A
  • Congenital Adrenal Hyperplasia
  • Androgen Insensitivity Syndrome (+Testes, >LH, >testosterone, female phenotype, N breast development, primary amenorrhea)
53
Q

Management of CAH in times of sickness

A

• If fever or gastro & adequate PO intake:
○ 2-3x PO glucocorticoid dose (no change to fludrocortisone)
○ If unable to tolerate PO, prompt medical attention & IM HC dose (parents should be able to give at home, 50-100 mg/m2/dose)

• If illness & IMPAIRED PO Intake:
○ Go to ER
○ +/- IV glucocorticoids, saline, glucose

• If severe illness/major surgery:
○ IV glucocorticoids
○ <3yo: HC 25 mg IV x1, then 25-30 mg/d diq q6h or continuous
○ 3-12yo: HC 50 mg IV x1, then 50-60 mg/d div q6h or continuous
○ >12yo: HC 100 mg IV x1, then 100 mg/d div q6h or continuous

• Should have Medic-Alert bracelet

54
Q

What is the definition of micropenis?

A
  • Definition: a normally formed penis that is at least 2.5 SD below the mean in size
  • Stretched penile length (measuring the distance from the penile base under the pubic symphysis to the tip of the glans)
    • In a male newborn, concerning stretched length is < 1.9 cm
55
Q

What is the definition of precocious puberty?

A

Precocious puberty is traditionally defined as the onset of secondary sexual characteristics before the age of:
• Eight years in girls
• Nine years in boys

56
Q

What is the diagnostic criteria for PCOS?

A
  • Evidence of hirsutism or hyperandrogenism
  • Polycystic ovaries
  • Anvoluation/Oligomenorrhea
57
Q

What blood tests should be ordered in the case of hypoglycemia?

A
  • Ketones, insulin, beta-hydroxybuterate

* Free fatty acids, Serum cortisol (random), TSH, ACTH, GH, IGF-1, blood gas, acylcarnitines, ammonia, lactate, HCO3-

Pediatrics (27 decks)

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