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Laughing Pedi > Endo > Flashcards

Endo Flashcards

0
Q

Critical time for intervening to prevent external ambiguous genitalia and what do you treat with?

A

Before 8-12 weeks when androgen exposure will have significant virilization w/ ambiguity. Treat with maternal dexamethasone which will suppress ACTH secretion in fetal pituitary

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1
Q

Screen for CAH?

What does it show (increased in what?)

A

17 -OH Progesterone increased in

21 hydroxylase def CAH

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2
Q

Define primary adrenal insuff?

A

affects adrenal gland itself (vs secondary: pituitary, tertiary: hypothal)

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3
Q

Layers of adrenal gland and what they make?

A

GFR: Glomerulosa (Aldo, Outer) –> Fasciculata (GC, middle) –> Reticularis (Deep, catecholamines)

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4
Q

Hormone responsible for heralding adrenarche from adrenal gland?

A

Catecholamines with redevelopment in Reticularis

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5
Q

CAH causing hypertension?

A

11 hydroxylase def

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6
Q

distinguish Cushing from obesity

A

Cushing will have decreased growth velocity, obesity will have incr growth velocity

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7
Q

Sx of glucocorticoid withdrawal / insuff

What about salt issues?

A

malaise, anorexia, HA, lethargy, n/v, BP drop b/c of catecholamine effect BUT no salt issues because glomerulosa function is regulated by RAS

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8
Q

Tx of adrenal crisis?

A 
fluid bolus with no K
Stress dose hydrocortisone 80mg/m2 or Dex 3mg
	Infant: 25mg IV
	Child: < 12: 50mg IV
	Adol: 100mg IV
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9
Q

3Ps of pheo?

A

Paroxysms of HA/BP, etc
Palpitations
Perspiration/diaphoresis

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10
Q

Pheo syndrome causes

A

MEN 2a and 2b, VHL, NF

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11
Q

MEN 2a vs 2b

same and diff

A

2a: parathyroid
2b: marfinoid, neuromas

Both with pheo and thyroid (the PH and TH)

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12
Q

lab features of pseudohypoparathyroid and what is the cause?

A

very high PTH, but low Ca, high phos (as though you have low PTH). Receptor defect

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13
Q

whats the diagnosis: facial wasting, v shaped upper lip, constipation, fTT, normal CK, cataracts, arrhythmias, hypogonadism, ID, later with DM and adrenocortical insuff?

A

Myotonic dystrophy (mom hand shake dx)

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14
Q

Think of this if you see microphallus and hypoglycemia, and do what test?

A

Panhypopit, do MRI” to look for septooptic dysplasia

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15
Q

Turner gets what infx?

A

recurrent otitis media

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16
Q

% mosaic for Turner

A

15%

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17
Q

additional system issues in Turner?

A

renal: horseshoe, pelvic, UPJ obstrx
early menopause
thyroid
bone (GH levels normal though)

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18
Q

large persistent fontanelle, frontal bossing, triangular face, asymmetry/hemihypertrophy, 5th finger issue, short short short

Bonus: genetic cause?

A

Silver Russell

10% maternal uniparental disomy chr 7

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19
Q

what is hypochondroplasia?

A

milder than achondroplasia with frontal bossing, stocky build

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20
Q

non salt wasting CAH?

A

11 beta hydroxylase def –> get HTN

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21
Q

emotional deprivation looks like what endocrinopathy issue

A

hypopituit

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22
Q

how to prevent insulin lipoatrophy

A

rotate insulin sites

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23
Q

lab testing for Cushing syndrome

A

urinary free cortisol is very high as screening, definitive dx with dexameth stim test

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24
Q

CBC abnormalities in cushing?

A

polycythemia, eosinphilia, lymphopenia

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25
Q

Ddx of hyperthyroidism from graves vs exogenous thyroid H

A

measure thyroglobulin

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26
Q

do neonatal congenital hypothyroid have goiter?

A

No. 90% from dysplastic thyroid

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27
Q

don’t mix thyroxin tabs with what?

A

iron / soy formula

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28
Q

prolonged jaundice in newborn should make you think of what

A

hypothyroidism

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29
Q

alpha L iduronidase on chr 4?

A

Hurler

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30
Q

three cancers in Beckwith Weidemann

A

Wilm, adrenocortical carcinoma, hepatoblastoma

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31
Q

why hypoglycemia in Beckwith Weidemann and what is distinguishing feature?

A 
pancreastic beta cell hyperplasia
NO ketones (like fatty acid oxidation defect)
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32
Q

AEDs causing Vit D def

A

PB, dilantin

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33
Q

explain how acid / base status influences serum calcium?

A

with acidosis - low pH - low bound Ca, high ical

with alkalosis - hi pH - hi bound Ca, low ical

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34
Q

major PTH effects on bone, kidney, gut

A

bone: cal/phos release
gut: absorb Ca (both PTH and calcitriol)
kidney: reabsorb Ca, waste phos AND incr vit D/calcitriol

Overall: incr Ca, decr Phos, incr calcitriol

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35
Q

what causes increase PTH?

A
  1. Hypocalcemia
  2. hyperphosphatemia
  3. calcitriol def
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36
Q

hypocalcemia causes what?

A

neuromusc instability: jerks, twitching, exagg startle, seizures
apnea, vomiting, laryngospasm

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37
Q

Chvostek sign

A

Elvis sign

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38
Q

Risk factors for early onset hypocal

Prognosis

A

prematurity, VLBW, maternal DM (decr PTH), perinatal asphyxia (hyperphos from injured tissue), maternal hyperparathyroid (PTH suppressed in baby)

Usu transient 1-2wk

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39
Q

Think of what if you see later (after 1 week) hypocalcemia in newborn? 3 major causes

A
  1. hypomagnesemia (PTH resistant)
  2. too much phosphate (now rare)
  3. DIGEORGE (hypoparathyroid)
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40
Q

maternally transmitted mutation causing pseudohypoparathyroidism? Dx?

A

genetic imprinting: GNAS1 (maternally trm mutation), causes albright’s hereditary osteodystrophy

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41
Q

What is pseudo-pseudohypoparathyroidism?

A

Paternally transmitted GNAS1 mutation, causes physical findings of Albright’s hereditary osteodystrophy (round face, short, obese, delayed) but with normal levels of everything

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42
Q

Dx if very low urine calcium excretion, but hypercalcemia?

cause?

A

Familial Hypocalciuric hypercalcemia (autosomal dominant and benign)
-inactivating defect in calcium sensing receptor gene

43
Q

Cause and prognosis of hypercalcemia in Williams

A

primary hypercalcemia that is typically transient

Normal PTH, Vit D

44
Q

what vitamin issues can give hypercalcemia?

A

toxicity of Vit A or D

45
Q

REq vit D now in newborns?

A

400 IU/d

46
Q

Dx?
1, 25 OH Vit D low but normal 25-OH vit D with early severe hypocalcemia and early skeletal manifestations.
Treatment?

A

1-alpha hydroxylase deficiency
chromosome 12q14
Tx w/ calcitriol

47
Q

when do signs of congenital hypothyroidism present?

A

at 5 wks (before that they are protected by maternal thyroid)

48
Q

initial management of congenital vs acquired hypothyroid

A

congenital: start high with 10-15mcg/kg/day and monitor often q2 mos in first 2 yrs
acquired: 0.024-0.05mg daily, then increase by 0.0125 until TSH normalizes

49
Q

sick euthyroid vs hypothyroid

A

TSH will be high in hyperthyroid and normal or low in sick euthyroid. rT3 also distinguishes: low in hypothyroid, high in sick.

50
Q

antithyroid meds / dose

s/e?

A

PTU 5-10mg/kg divided TID (RARELY used - liver tox)
Methimazole 0.5-1mg/kg/day
s/e: can cause lupus, hepatic tox, agranulocytosis

51
Q

Pathophys of neonatal graves?

A

BB, prednisone, Lugol
Give methimazole and l-thyroxin
need 6 mos treatment

Passage of mom’s Abs… even if she was treated, she may have abs.

52
Q

Presentation, Dx and

Treatment of subacute thyroiditis

A

painful swelling of thyroid, expect high T4 very low TSH
Decreased radioactive iodide uptake scan
Tx w/ BB, ASA, glucocorticoid which decr thyroid hormone

53
Q

parathyroid, pituitary, pancreatic adenomas

Dx?

A

MEN1

54
Q

medullary thyroid carcinoma, pheo, parathyroid adenoma

Transmission

A

Men 2A (AD)

55
Q

medullary thyroid carcinoma, pheo, mucosal neuromas, intestinal neuromas, marfanoid

Transmission

A

MEN 2b (sporadic mutation)

56
Q

differentiate Graves and subacute thyroiditis based on radioactive iodide uptake scan?

A

Graves: incr uptake

subacute thyroiditis: decr uptake

57
Q

salt wasting vs simple virilizing form of early onset (Classic) CAH 21-OH Def

A

virilizing only < 1 % enzyme

58
Q

suspect this in pt w/ premature pubarche/adrenarche, severe acne/hirsutism, menstrual abnormality, female pattern baldness?
mechanism of defect?

A

Late onset CAH (30 - 50%enzyme activity 21-OH Def)

59
Q

volume depletion, hypoNa, hyperKalemia, poor cardiac function/shock?

A

Adrenal crisis!

60
Q

CAH and height?

A

tall children, short adults

61
Q

LAb finding in eval of CAH in classic vs nonclassic

A

classic: 17OHP >10,000

late/non-classic: 17OHP >1,000

62
Q

hyperpigmentation, FTT, hypoglycemia, seizures

Dx? pathophys?

A

ACTH receptor defect in Familial Glucocorticoid Deficiency

63
Q

adrenal insuff, achalasia, alacrima, autonomic abnormality

Dx?

A

Allgrove (As!) AR loss of AAAS gene

64
Q

Defect in secondary adrenal insuff and what distinguishes it from primary

A

Anterior pituitary dysfunction, so mineralocorticoid is fine and no salt wasting

65
Q

Symptoms unique to primary adrenal insuff (3)

A
  1. salt craving and hyperk / very low Na
  2. increased pigmentation
  3. Increased ACTH / Incr K, Decreased Aldo
66
Q

maintenance glucocorticoid and mineralocorticoid in CAH

A

glucocort: 10-15mg/m2 div BID/TID
mineralocort: florinef 0.5-2mg daily (infants get salt tabs 1-4g)

67
Q

Management of CAH stress dosing for surgery

A

x3 maintenance GC nt prior
Give IV 30-100mg/m2 hydrocort on call to OR
post surg: continue 100mg/m2/d hydrocort q6 x 24 hrs
back to maintenance 203 days

68
Q

non exogenous Cushing in kids likely causes (2)

A

young kids: adrenal adenoma

older kids: pituitary adenoma (Cushing disease: ACTH production in kids >7y)

69
Q

Eval for Cushings? (4)

A

midnight salivary cortisol
24hr urinary free cortisol
overnight dexameth suppression
high androgens

70
Q

what is responsible for formation of male external genitals in XY?
What is responsible for regression of the female internal duct structures? Produced by?

A

presence of androgens makes external genitalia
Mullerian inhibiting factor –> regression of female internal duct
Produced by male testes

71
Q

XY infant with cliteromegaly and palpable masses in labial folds
Dx?
Test for what?

A

Androgen insensitivity / male pseudohermaphroditism

5-alpha reductase deficiency and 17 ketosteroid reductase deficiency should be ruled out.

72
Q

what does 5-alpha reductase def cause?

what does 17-ketosteroid reductase def casue?

A
  1. 5-alpha: can’t reduce testosterone to DHT

2. 17-keto: can’t convert androstenedione to testost

73
Q

what do the Müllerian ducts (paramesonephric) ducts become?

A

uterus, cervix, upper vagina, tubes

74
Q

normal looking vagina, and testes in inguinal canal

What other internal structures?

A

testicular feminization / androgen insens

Due to MIF, there is NO uterus or ovaries, so vagina ends in blind pouch

75
Q

micropenis, hypoglycemia, decr TSH, decr GH
Syndromes assoc?
Do what additional work up?

A 
panhypopit
Prader willi
Kallmann
Septo optic dysplasia
Renal function
76
Q

excessive scrotal pigmentation, shock, septic picture in MALE baby?

A

CAH: males DON’T have ambiguous genitalia

77
Q

girl baby with shock, ruggated labia, clitoral hypertrophy?

A

CAH: female w/ ambiguous genitalia

78
Q

21-hydroxylase is needed to produce what hormones? What buids?

A

Cortisol and Aldo.

Testosterone builds

79
Q

prenatal screening of CAH?

A

molecular genetic testing of fetal cells

80
Q

pharmacologic treatment of ccongenital CAH

A

hydrocortisone hemisuccinate: also has some mineralocorticoid

81
Q

cm - in?

A

2.5cm = in

82
Q

EARLY very delayed bone age in young short child

Test?

A

GH def

can do insulin or arginine stimulation

83
Q

bone age, chron age, height age in nutrition def?

A

height &laquo_space;Bone age = chron age

84
Q

best way to assess growth delay?

A

compare bone age to chronological age

85
Q

bone age, chron age, height in hypothyroid?

A

bone age < height < chron age

86
Q

macroglossia, jaundice, enlarged anterior fontanelle, pooro feeding, umbilical hernia in newborn?

A

congenital hypothyroid

87
Q

when to test for congenital hypothyroidism in newborn?

A

w/in 24 hrs

88
Q

test to ddx Graves from Hashimoto?

A

radioactive iodine uptake: high in Graves, low in Hashimotos

89
Q

when to start lipid and eye screening in kids w/ DM1?

A

Age 12

90
Q

expected lab finding in insulin resistance related to cholest?

A

low HDL

91
Q

5 sx of metabolic syndrome?

A
  1. high TG
  2. low HDL
  3. HTN
  4. Hyperglycemia (Fasting > 100)
  5. truncal obesity
92
Q

Fluid replacement in DKA?

A

20cc/kg boluses in first hour,

1/2 deficit replaced in first 16 hrs

93
Q

amount of K that can be given if low potassium in DKA?

A

60meq K / Liter

94
Q

when to add Glucose into fluids in DKA?

A

when it drops to < 300

95
Q

if/when should bicarb be used in DKA?

Goal bicarb?

A

Only when pH is < 7.1 to bring to 7.2 max and not if hypokalemia present b/c this causes incr Co2 in CSF compared to blood (cerebral edema risk)
bicarb goal is 15

96
Q

fluid replacement in hypernatremic dehydration and hyperosmolar diabetic coma?

A

slow and steady! replace fluids over 36-48 hours

97
Q

define hypercalcemia?

A

Ca >11mg/dL

98
Q

Causes of hypercalcemia?

A

WISH

  • Williams
  • Ingestion (thiazide, Vit A or D) / prolonged immobilization
  • Skeletal disorders
  • Hyperparathyroid
99
Q

Drug that can be used to tx Hypercalcemia?

A

Lasix

100
Q

Define hypocalcemia?

A

Ical < 4.5 mg/dL (1mmol/L)

Total cal: < 8.5 mg/dL

101
Q

Causes of hypocalcemia?

A 
PINK:
Pseudohypoparathyroid
Intake / Immune (Digeorge)
Nephrotic syndrome: low alb/low cal
Kidney: renal insuff, secondary hyperparathyroid
102
Q

painful muscle spasms
seizures
vomiting
long QT

A

Hypocalcemia

103
Q

developmental delay, short, obese, moon facies, calcified basal ganglia?

A

pseudohypoparathyroidism: high PTH and hypocalcemia

104
Q

Two types of vitamin D resistant rickets and how to ddx?
Tx of each?

Genetics?

A

Type 1: LOW 1, 25 OH vit D (kidneys don’t produce it)
Treat with 1, 25!

Type 2: HIGH 1, 25 OH Vit D (there is end organ resist to it)
Treat with Ca infusions… very difficult

Both are AR

105
Q

most common type of rickets in US? inher?
CAuse
Tx

A

X linked dominant hypophosphatemic rickets
eXcess phosphate loss, cannot convert 25 –> 1, 25 OH D
Tx w 1, 25 and phosphate

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