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Pediatric Boards > Endo > Flashcards

Endo Flashcards

1
Q

Girl with primary amenorrhea with No breasts (or just breast buds), No/scant hair, Elevated gonadotropins

A

Turner Syndrome (XO)

  • short stature (could present as a younger child with isolated short stature, bone age=actual age, normal labs)
  • webbed neck (cystic hygroma), pedal edema, wide spaced nipples, short 4th/5th metacarpals
  • aortic coarctation, horseshoe kidney
  • uterus present but streak ovaries
  • Dx: HypERgonadotropic ovarian failure (high FSH). Negative progesterone challenge test (will not bleed 2 weeks later)
  • Tx: Can treat with GH but NOT testosterone.
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2
Q

Girl with primary amenorrhea with breasts but No hair

A

Androgen insensitivity (aka testicular feminization) which is genetically XY. X-linked recessive.

  • Blind-ending vagina. No uterus or ovaries. Testes are present in inguinal canal.
  • Might see FH of “sterile maternal aunts” (actually males)
  • Receptors are insensitive to androgens but Mullerian inhibitor hormone still works, resulting in regression of internal female structures without development of external male structures and later no adrenarche/pubarche (no hair, no menses). Estrogen still works so patients develop breasts.
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3
Q

Boy with gynecomastia, small testicles, tall stature, long arms/legs, mild intellectual disability

A

Klinefelter (47, XXY)

  • 1-2:1000 Nondisjunction during egg/sperm meiosis
  • Low testosterone, high LH and FSH
  • Tx: Testosterone
  • High risk of autoimmune d/o, diabetes, tumors, osteopenia
  • “shy” “awkward” “below average in school”
  • “low upper to lower segment ratio”
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4
Q

Teen girl with pubic hair but no breasts

A

Could be Low estrogen or androgen excess

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5
Q

Young girl with pubic hair but no breasts

A

Premature adrenarche (if bone age is normal, can likely observe)

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6
Q

Young boy with pubic hair, penile enlargement, +/- accelerated growth, with Small testes

A

Congenital adrenal hyperplasia, Exogenous steroids, or Virilizing tumor (the excess hormones are not coming from a central or gonadal cause). Technically this is not precocious puberty since testes are small.

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7
Q

Young boy with enlarged testes, pubic hair, penile enlargement, +/- accelerated growth

A

Precocious puberty. Elevated LH or bHCG and/or elevated gonadal androgens. Look for tumors

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8
Q

Young girl with breasts + vaginal bleeding or accelerated growth

A

Precocious puberty. If LH/FSH are elevated = central cause, usually idiopathic but sometimes pituitary tumor. Tx with Lupron (GnRH analogue will suppress LH/FSH).
If LH/FSH are not elevated but estrogen/progesterone are elevated = gonadal/TUMOR cause

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9
Q

Young boy with pubic hair without testicular enlargement

A

Premature adrenarche - very concerning for Congenital Adrenal Hyperplasia! Check 17-OH progesterone levels. (Adrenal tumor is less likely)

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10
Q

Young girl (usually a baby) with breast buds

A

Premature thelarche. Usually benign. Follow for other signs of precocious puberty.

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11
Q

Young girl with breast buds, being followed closely, develops early menses

A

Premature thelarche->Precocious puberty. Look for source of estrogen excess: exogenous, estrogen-secreting tumor, or central. Get endo consult.

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12
Q

When to get Bone Age Films

A
  • Premature adrenarche

- Delayed puberty

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13
Q

13yo girl with no breast buds

A

Delayed puberty (no breast buds by 13yo). More concerning in girls. If bone age is w/in 1-2 y, can observe. If BA=CA, check FSH, LH, prolactin, and gonadal hormones. If FSH/LH are increased -> Turner syndrome. If FSH/LH are low -> consider eating disorder, exercise induced amenorrhea, or Kallman.

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14
Q

Amenorrheic 16yo who reached SMR4 breasts and hair at 13yo

A

Delayed puberty (no menses 2 yrs after SMR4 hair/breasts). More concerning in girls! Do primary amenorrhea work-up

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15
Q

Boy with SMR2-3 testicular and penile size with gynecomastia

A 
Normal variant (50% of boys in SMR2/3 stages)
Can be unilateral
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16
Q

Boy with small penis, delayed puberty, and anosmia

A

Kallman syndrome. Associated with other midline defects (SOD).

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17
Q

Child with decelerated growth, proportionate wt and ht, and delayed puberty. Delayed bone age mirrors height.

A

Constitutional growth delay (and delayed puberty). Benign and child will eventually reach full adult height.
Can consider tx with testosterone (but not GH).

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18
Q

(Young) Child with decelerated growth (crossing lines) and micropenis/small clitoris.

A

Growth hormone deficiency. Will see lack of GH release after administering insulin or arginine. Can have seizures due to hypoglycemia.

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19
Q

Child with decelerated growth of height with relative sparing of weight and markedly delayed bone age

A

Congenital growth hormone deficiency. Beware this answer choice - it is a common distractor.

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20
Q

Child with sharply decelerated growth and delayed bone age

A

Acquired growth hormone deficiency. Get brain MRI to look for pituitary tumor. Check other pituitary hormones

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21
Q

Anterior pituitary hormones

A

FLATPiG = FSH, LS, ACTH, TSH, Prolactin, and GH

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22
Q

Posterior pituitary hormones

A

Oxytocin and ADH/Vasopressin

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23
Q

Child with short stature, overweight, delayed bone age, dry skin, and constipation

A

Hypothyroidism

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24
Q

Child with accelerated growth and early adrenarche/puberty and premature closure of growth plates

A

Late onset congenital adrenal hypErplasia. Hyperandrogenism

Will ultimately have short stature

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25
Q

Child with low weight percentile with relative sparing of height

A

Could be nutritional disorder. Eventually might see decreased weight AND height. If drop in weight was rapid, consider GI/renal/metabolic pathology

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26
Q

Obese tall child with striae and advanced bone age

A

High caloric intake (Cushing’s patients are NOT tall)

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27
Q

Obese short child with delayed bone age

A

Hormonal/endocrine issue. (If no BA is provided, consider Cushing’s)

28
Q

Child with falling weight and height curves but sparing of head circumference

A

Usually an endocrine issue. Sometimes constitutional growth delay or genetic short stature

29
Q

Primary amenorrhea work-up: What and when (p.60)

A

What:
-Pregnancy test.
-Then, do Progesterone Challenge. 1) If patient has menses w/in 2 weeks, then there is enough estrogen but not progesterone (so no ovulation). Check LH level (high=PCOS; low->check prolactin and TSH. 2) If no menses, there is not enough estrogen. Check FSH level (high=ovarian failure or Turner’s; low=Central problem such as mass or hypothyroid).
-If androgenization, get testosterone and DHEA.
When:
no menses 2 yrs after puberty ended; 14-15yo with no breast development; 16-17yo even with breast development

30
Q

Child with no menses for 6 months after periods had become regular or no menses for 12 mos if periods were irregular

A

Secondary amenorrhea.
Differential includes Asherman’s syndrome, Cystic fibrosis, Sarcoidosis, Tuberculosis, brain tumor, phenothiazines, nutrition

31
Q

Child with no menses x 3 months, bradycardia, orthostasis, and hypothermia

A

Anorexia (bulimia causes irregular menses)

32
Q

Child with irregular menses, obesity, hirsuitism, acne, and signs of insulin resistance

A

PCOS = a Clinical diagnosis. LH:FSH>2

PCOS can be secondary to other disorders, such as Cushing’s.

33
Q

14yo boy with galactorrhea

A

Consider marijuana use

34
Q

Normal (or slightly low) calcium

Low phosphorus

A

Option 1: Familial hypophosphatemic rickets, aka Vit D Resistant Rickets.
X-linked Dominant disorder (but still boys>girls)
Other labs: High Alk Phos, normal 25-Vit D, Normal-increased PTH, high urine Phos
Kidney cannot reabsorb Phos or convert 25-Vit D to 1,25-Vit D
Tx: Oral phos and 1,25-Vit D
Option 2: Initial vitamin D depletion (low 25-Vit D). Compensatory increased PTH temporarily normalizes calcium

35
Q

Low calcium

Low phosphorus

A

Severe Vit D deficiency

PTH will be high

36
Q

Low calcium

Normal phosphorus

A

Initial Vit D repletion of healing Vit D deficiency rickets

37
Q

Low calcium

High phosphorus

A 
Remember:  PTH is supposed to promote ?
Causes of this pattern include:
Hypoparathyroidism
Pseudohyperparathryroidism (PTH resistance)
Phosphorus overload
38
Q

Normal calcium

High phosphorus

A

Renal disease
Growth hormone excess
High phosphorus diet

39
Q

Hypercalcemia - definition and symptoms

A

Calcium > 12
Sx: Shortened ST and QT segments, polyuria, plus “Bones (fx) , stones, moans (abd pain), and psychiatric overtones (fatigue, AMS, psychosis, coma)

40
Q

Hypocalcemia - definition, symptoms

A

Calcium < 8.5 or iCal < 4.5
Correct total Ca by adding 0.8 to Ca for every 1 g/dL drop in albumin (from normal of 4)
Sx: Paresthesias, Tetany (carpopedal spasm aka Trousseau’s sign; Chvostek’s sign -> cheek spasm), Refractory seizures, Laryngospasm and tachypnea, prolonged QT-> death

41
Q

Hypercalcemia - causes (7+)

A

Familial hypocalciuric hypercalcemia (benign, NTD), Williams syndrome, Vit D or Vit A ingestion, Thiazide diuretics, Skeletal issues (ex. casting. Tx with IV fluids and loop diuretics), Hyperparathyroid, Malignancy

42
Q

Hypocalcemia - causes (early and late)

A

Early (first 3 DOL): HIE, IDM, IUGR, maternal hyperPTH (makes the baby hypoPTH)

Late (after DOL7): Vit D defic, hypoPTH, pseudohyperPTH, hyperphos, hypomag, hyperventilation, alkalosis, nephrotic syndrome, renal failure, rhabdomyolysis (low Ca-> high Ca), ethylene glycol, DiGeorge/22q11 deletion syndrome

43
Q

Adrenal enzymes (p.77 in book)

A

1) 21-hydroxylase - cannot make aldosterone or cortisol. Salt-wasting CAH, low Na, high K. No HTN. High 17-OH Prog.
2) 18-hydroxylase - cannot make aldosterone
3) 17-hydroxylase - cannot make cortisol or androgens (CAH, low K. HTN. Metab acidosis)
4) 11-hydroxylase - cannot make cortisol (non-salt wasting CAH, pt will have normal Na levels but will have HTN)
- Causes of CAH in order: 21»11>17

44
Q

Micropenis

A

Normal appearance but <2 cm
Testes present in scrotum
Diff dx: GH defic, Prader-Willi, Kallman syndrome (also has anosmia), and Panhypopit

45
Q

Baby with normal testes/penis and rudimentary uterus and fallopian tubes

A

Mullerian inhibitor hormone deficiency (or receptor defect)

  • Androgens work so see external male genitalia
  • But MIH does not work so do not see regression of internal female genitalia
  • Child is XY
46
Q

Baby with ambiguous or female genitalia and XY karyotype

A

MALE pseudohermphradoism, aka incomplete masculinization.
- Due to inadequate androgen production during fetal dev affecting external structures
(has no female internal structures?)

47
Q

Child with testicular and ovarian tissue

A

True hermphrodism

- Very rare, likely a decoy answer choice!

48
Q

High ACTH, high cortisol
vs
Normal/low ACTH, high cortisol

A

Cushing’s disease (central cause)
vs
Cushing’s syndrome (exog or adrenal cause)
Pearl: if patient is tall, obese, with striae - it is not Cushing’s, it is high caloric intake.

49
Q

High ACTH, low cortisol

High yield

A

Primary Adrenal insufficiency/deficiency aka Primary Addison’s disease (Adrenal gland issue)
Other sx: hypoglycemia (low cortisol), low Na and high K (low aldosterone), nonspecific sx, hyperpigmentation, appropriately high ADH
Causes: adrenal dysgenesis (X-linked congenital adrenal hypOplasia), impaired steroidogenesis (Smith-Lemli-Optiz; congenital adrenal hypErplasia/CAH), adrenal destruction (ex. autoimmune, adrenoleukodystrophy, adrenal hemorrhage, infection/TB, idiopathic)
Dx: ACTH stim test will NOT increase cortisol
Tx: hydrocortisone (glucocorticosteroid) AND fludrocortisone (mineralocorticoid)

50
Q

Low ACTH, low cortisol

A

Secondary Adrenal insufficiency/deficiency, aka Secondary Addison’s disease (Pituitary problem)
Other sx: No issues with Na or K (aldosterone, renin-Angiotensin are fine). Can see midline defects
Dx: ACTH stim test WILL increase cortisol
Tx: Just hydrocortisone (not fludrocortisone)

51
Q

N/V, malaise, hyperkalemia, hyponatremia, shock

A

Adrenal crisis

Tx: Saline, glucose, IV hydrocortisone

52
Q

Baby with normal TSH but high T4 on newborn screen

A

Thyroxine-binding globulin deficiency (so total T4 looks low, but free T4 will be normal. TBG level will be low)
X-linked disease
No treatment is needed!!!

53
Q

Baby with elevated TSH (and low free T4)

A

Hypothyroidism or Congenital hypothyroidism
Sx: Hoarse cry, puffiness, large tongue, large anterior and posterior fontanelles, hypotonia, abd distension, umbilical hernia, constipation, acrocyanosis/mottling.
Tx: Start levothyroxine right away to avoid irreversible cognitive damage. Repeat labs.

54
Q

Child with thyroid nodule - what tests to get and how to interpret them?

A

Thyroid function studies: Low TSH suggests overactive thyroid tissue aka “hot” nodule, likely benign.
Ultrasound next choice. Then radioactive imaging as third choice. Cold nodule = inactive tissue = BAD

55
Q

Child with thyroid nodule - what tests to get and how to interpret them?

A

Thyroid function studies: Low TSH suggests overactive thyroid tissue aka “hot” nodule, likely benign.
Ultrasound next choice. Then radioactive imaging as third choice. Cold nodule = inactive tissue = BAD, likely malignant tumor.
Fine needle aspirate is method of choice to dx suspicious lesions.

56
Q

Baby with tachycardia, tremors, SVT in immediate newborn period

A

Neonatal thyrotoxicosis (neonatal Graves disease)

  • Mom’s thyroid-stimulating-receptor antibodies cross placenta and cause problems in baby
  • Can lead to heart failure in baby. Also IUGR and microcephaly.
  • Tx: can give pregnant mom PTU. Levothyroxine helps too
57
Q

Child with hyperactivity, trouble sleeping, disorganized thinking, emotional lability, weight loss, tachycardia, heat intolerance, ophthalmopathy, lid lag.

A

GravE’s DisEasE = hyperthyroid
Radioactive iodine uptake is HIGH
Might have goiter full of thyroid hormone
TSH very low to absent
Tx: Methimazole, iodine ablation, beta blocker. Less often use PTU due to high toxicity.

58
Q

Child with painless, firm goiter/thyromegaly

A

Must do further testing to see if hypo or hyperthyroid.
If hypOthyroid = HashimOtO thyrOiditis, aka chronic lymphocytic thyroiditis.
Radioactive iodine uptake is LOW
High TSH, low T4 (can have transient thyrotoxicosis or normalization of T4 if TSH is high enough)
+TPO or +thyroglobulin antibodies

59
Q

Thyroglobulin vs thyroxine-binding globulin

A

Thyroglobulin is found only in the thyroid gland
Thyroxine-binding globulin = TBG and carries thyroxine (T4) in the blood
Total T4 includes free T4 and T4 bound to TBG

60
Q

Tx of DKA or HONK (hyperosmolar non-ketotic hyperglycemic state)

A

Replace fluid over 36-48 hours (to avoid cerebral edema)
Replete K with up to 60 mEq/L
Do not give hypertonic saline (low Na is likely pseudohyponatremia)
Add glucose to IV fluids once blood glucose < 300
Do not give bicarb unless pH < 7.1

61
Q

Metabolic syndrome diagnostic criteria

A 
Three of the following:
-Abdominal obesity (waist circ > 90th%)
-HDL < 40
-Triglycerides > 150
-Fasting glucose > 100
-Blood pressure > 90th%
(Note:  Acanthosis nigricans is NOT a diagnostic criteria)
62
Q

SIADH lab values

A

Serum Na < 135
Serum osm < 275
Urine Na > 40 (Na excretion is not affected)
Increased urine spec gravity
Also, increased thirst and decreased frequency of urination

63
Q

Baby with phallic-appearing or enlarged clitorus structure (ambiguous genitalia), no testes, has a uterus

A

Girl (XX) with congenital adrenal hypErplasia (CAH)

  • Causes androgen excess which masculinizes the external genitalia but does not affect the internal structures and does not result in creation of testes
  • Can have common urethral-vaginal orifice
  • Administer hydrocortisone STAT to avoid adrenal crisis. and also to help prevent further virilization (will shut down ACTH which was driving excess androgens), draw 17-OH progesterone level, and then give hydrocort, fludrocort, saline, glucose
64
Q

Baby with hyperpigmented scrotum

A

Boy (XY) with congenital adrenal hypErplasia (CAH)

  • Excess ACTH causes hyperpigmentation. Excess androgens promote normal male external genitalia
  • Newborn screen will show increased 17-OH progesterone, which might be the ONLY abnormality (i.e. baby boy might look totally normal at first)
  • Administer hydrocortisone STAT to avoid adrenal crisis, draw 17-OH progesterone level, and then give hydrocort, fludrocort, saline, glucose
65
Q

Diabetes mellitus type 2 diagnostic criteria

A
  • HgbA1C > 6.5
  • Fasting glucose > 126
  • 2 h glucose > 200 (after 75 gm glucose load)
  • Random glucose > 200 with symptoms of hyperglycemia
66
Q

BASIC WORKUP OF DELAYED PUBERTY

A

 Bone age helps determine whether the delay is constitutional.
 Other imaging if there is a suspicion gonads are abnormal or absent.
 FSH, LH, and either estrogen or testosterone (according to sex) to distinguish primary
and secondary problems.
 TSH, T4, and prolactin
 Karyotype in patients with primary hypogonadism.

67
Q

Parathyroid hormone

A

Works to maintain ionized calcium levels by:

1) Releasing calcium from bones
2) Increasing calcium reabsorption by kidneys
3) Decreasing phosphate reabsorption by kidneys
4) Promote conversion of 25-Vit D to 1,25-Vit D by the kidneys
5) 1,25-Vit D then promotes absorption of calcium from the intestinges

Pediatric Boards (9 decks)

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