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
1
Q
Screen for CAH?
What does it show (increased in what?)
A
17 -OH Progesterone increased in
21 hydroxylase def CAH
2
Q
Define primary adrenal insuff?
A
affects adrenal gland itself (vs secondary: pituitary, tertiary: hypothal)
3
Q
Layers of adrenal gland and what they make?
A
GFR: Glomerulosa (Aldo, Outer) –> Fasciculata (GC, middle) –> Reticularis (Deep, catecholamines)
4
Q
Hormone responsible for heralding adrenarche from adrenal gland?
A
Catecholamines with redevelopment in Reticularis
5
Q
CAH causing hypertension?
A
11 hydroxylase def
6
Q
distinguish Cushing from obesity
A
Cushing will have decreased growth velocity, obesity will have incr growth velocity
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
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
9
Q
3Ps of pheo?
A
Paroxysms of HA/BP, etc
Palpitations
Perspiration/diaphoresis
10
Q
Pheo syndrome causes
A
MEN 2a and 2b, VHL, NF
11
Q
MEN 2a vs 2b
same and diff
A
2a: parathyroid
2b: marfinoid, neuromas
Both with pheo and thyroid (the PH and TH)
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
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)
14
Q
Think of this if you see microphallus and hypoglycemia, and do what test?
A
Panhypopit, do MRI” to look for septooptic dysplasia
15
Q
Turner gets what infx?
A
recurrent otitis media
16
Q
% mosaic for Turner
A
15%
17
Q
additional system issues in Turner?
A
renal: horseshoe, pelvic, UPJ obstrx
early menopause
thyroid
bone (GH levels normal though)
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
19
Q
what is hypochondroplasia?
A
milder than achondroplasia with frontal bossing, stocky build
20
Q
non salt wasting CAH?
A
11 beta hydroxylase def –> get HTN
21
Q
emotional deprivation looks like what endocrinopathy issue
A
hypopituit
22
Q
how to prevent insulin lipoatrophy
A
rotate insulin sites
23
Q
lab testing for Cushing syndrome
A
urinary free cortisol is very high as screening, definitive dx with dexameth stim test
24
CBC abnormalities in cushing?
polycythemia, eosinphilia, lymphopenia
25
Ddx of hyperthyroidism from graves vs exogenous thyroid H
measure thyroglobulin
26
do neonatal congenital hypothyroid have goiter?
No. 90% from dysplastic thyroid
27
don't mix thyroxin tabs with what?
iron / soy formula
28
prolonged jaundice in newborn should make you think of what
hypothyroidism
29
alpha L iduronidase on chr 4?
Hurler
30
three cancers in Beckwith Weidemann
Wilm, adrenocortical carcinoma, hepatoblastoma
31
why hypoglycemia in Beckwith Weidemann and what is distinguishing feature?
```
pancreastic beta cell hyperplasia
NO ketones (like fatty acid oxidation defect)
```
32
AEDs causing Vit D def
PB, dilantin
33
explain how acid / base status influences serum calcium?
with acidosis - low pH - low bound Ca, high ical
| with alkalosis - hi pH - hi bound Ca, low ical
34
major PTH effects on bone, kidney, gut
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
35
what causes increase PTH?
1. Hypocalcemia
2. hyperphosphatemia
3. calcitriol def
36
hypocalcemia causes what?
neuromusc instability: jerks, twitching, exagg startle, seizures
apnea, vomiting, laryngospasm
37
Chvostek sign
Elvis sign
38
Risk factors for early onset hypocal
| Prognosis
prematurity, VLBW, maternal DM (decr PTH), perinatal asphyxia (hyperphos from injured tissue), maternal hyperparathyroid (PTH suppressed in baby)
Usu transient 1-2wk
39
Think of what if you see later (after 1 week) hypocalcemia in newborn? 3 major causes
1. hypomagnesemia (PTH resistant)
2. too much phosphate (now rare)
3. DIGEORGE (hypoparathyroid)
40
maternally transmitted mutation causing pseudohypoparathyroidism? Dx?
genetic imprinting: GNAS1 (maternally trm mutation), causes albright's hereditary osteodystrophy
41
What is pseudo-pseudohypoparathyroidism?
Paternally transmitted GNAS1 mutation, causes physical findings of Albright's hereditary osteodystrophy (round face, short, obese, delayed) but with normal levels of everything
42
Dx if very low urine calcium excretion, but hypercalcemia?
| cause?
Familial Hypocalciuric hypercalcemia (autosomal dominant and benign)
-inactivating defect in calcium sensing receptor gene
43
Cause and prognosis of hypercalcemia in Williams
primary hypercalcemia that is typically transient
| Normal PTH, Vit D
44
what vitamin issues can give hypercalcemia?
toxicity of Vit A or D
45
REq vit D now in newborns?
400 IU/d
46
Dx?
1, 25 OH Vit D low but normal 25-OH vit D with early severe hypocalcemia and early skeletal manifestations.
Treatment?
1-alpha hydroxylase deficiency
chromosome 12q14
Tx w/ calcitriol
47
when do signs of congenital hypothyroidism present?
at 5 wks (before that they are protected by maternal thyroid)
48
initial management of congenital vs acquired hypothyroid
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
sick euthyroid vs hypothyroid
TSH will be high in hyperthyroid and normal or low in sick euthyroid. rT3 also distinguishes: low in hypothyroid, high in sick.
50
antithyroid meds / dose
| s/e?
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
Pathophys of neonatal graves?
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
Presentation, Dx and
| Treatment of subacute thyroiditis
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
parathyroid, pituitary, pancreatic adenomas
| Dx?
MEN1
54
medullary thyroid carcinoma, pheo, parathyroid adenoma
Transmission
Men 2A (AD)
55
medullary thyroid carcinoma, pheo, mucosal neuromas, intestinal neuromas, marfanoid
Transmission
MEN 2b (sporadic mutation)
56
differentiate Graves and subacute thyroiditis based on radioactive iodide uptake scan?
Graves: incr uptake
| subacute thyroiditis: decr uptake
57
salt wasting vs simple virilizing form of early onset (Classic) CAH 21-OH Def
virilizing only < 1 % enzyme
58
suspect this in pt w/ premature pubarche/adrenarche, severe acne/hirsutism, menstrual abnormality, female pattern baldness?
mechanism of defect?
Late onset CAH (30 - 50%enzyme activity 21-OH Def)
59
volume depletion, hypoNa, hyperKalemia, poor cardiac function/shock?
Adrenal crisis!
60
CAH and height?
tall children, short adults
61
LAb finding in eval of CAH in classic vs nonclassic
classic: 17OHP >10,000
| late/non-classic: 17OHP >1,000
62
hyperpigmentation, FTT, hypoglycemia, seizures
| Dx? pathophys?
ACTH receptor defect in Familial Glucocorticoid Deficiency
63
adrenal insuff, achalasia, alacrima, autonomic abnormality
| Dx?
Allgrove (As!) AR loss of AAAS gene
64
Defect in secondary adrenal insuff and what distinguishes it from primary
Anterior pituitary dysfunction, so mineralocorticoid is fine and no salt wasting
65
Symptoms unique to primary adrenal insuff (3)
1. salt craving and hyperk / very low Na
2. increased pigmentation
3. Increased ACTH / Incr K, Decreased Aldo
66
maintenance glucocorticoid and mineralocorticoid in CAH
glucocort: 10-15mg/m2 div BID/TID
mineralocort: florinef 0.5-2mg daily (infants get salt tabs 1-4g)
67
Management of CAH stress dosing for surgery
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
non exogenous Cushing in kids likely causes (2)
young kids: adrenal adenoma
| older kids: pituitary adenoma (Cushing disease: ACTH production in kids >7y)
69
Eval for Cushings? (4)
midnight salivary cortisol
24hr urinary free cortisol
overnight dexameth suppression
high androgens
70
what is responsible for formation of male external genitals in XY?
What is responsible for regression of the female internal duct structures? Produced by?
presence of androgens makes external genitalia
Mullerian inhibiting factor --> regression of female internal duct
Produced by male testes
71
XY infant with cliteromegaly and palpable masses in labial folds
Dx?
Test for what?
Androgen insensitivity / male pseudohermaphroditism
| 5-alpha reductase deficiency and 17 ketosteroid reductase deficiency should be ruled out.
72
what does 5-alpha reductase def cause?
| what does 17-ketosteroid reductase def casue?
1. 5-alpha: can't reduce testosterone to DHT
| 2. 17-keto: can't convert androstenedione to testost
73
what do the Müllerian ducts (paramesonephric) ducts become?
uterus, cervix, upper vagina, tubes
74
normal looking vagina, and testes in inguinal canal
| What other internal structures?
testicular feminization / androgen insens
| Due to MIF, there is NO uterus or ovaries, so vagina ends in blind pouch
75
micropenis, hypoglycemia, decr TSH, decr GH
Syndromes assoc?
Do what additional work up?
```
panhypopit
Prader willi
Kallmann
Septo optic dysplasia
Renal function
```
76
excessive scrotal pigmentation, shock, septic picture in MALE baby?
CAH: males DON'T have ambiguous genitalia
77
girl baby with shock, ruggated labia, clitoral hypertrophy?
CAH: female w/ ambiguous genitalia
78
21-hydroxylase is needed to produce what hormones? What buids?
Cortisol and Aldo.
| Testosterone builds
79
prenatal screening of CAH?
molecular genetic testing of fetal cells
80
pharmacologic treatment of ccongenital CAH
hydrocortisone hemisuccinate: also has some mineralocorticoid
81
cm - in?
2.5cm = in
82
EARLY very delayed bone age in young short child
| Test?
GH def
| can do insulin or arginine stimulation
83
bone age, chron age, height age in nutrition def?
height << Bone age = chron age
84
best way to assess growth delay?
compare bone age to chronological age
85
bone age, chron age, height in hypothyroid?
bone age < height < chron age
86
macroglossia, jaundice, enlarged anterior fontanelle, pooro feeding, umbilical hernia in newborn?
congenital hypothyroid
87
when to test for congenital hypothyroidism in newborn?
w/in 24 hrs
88
test to ddx Graves from Hashimoto?
radioactive iodine uptake: high in Graves, low in Hashimotos
89
when to start lipid and eye screening in kids w/ DM1?
Age 12
90
expected lab finding in insulin resistance related to cholest?
low HDL
91
5 sx of metabolic syndrome?
1. high TG
2. low HDL
3. HTN
4. Hyperglycemia (Fasting > 100)
5. truncal obesity
92
Fluid replacement in DKA?
20cc/kg boluses in first hour,
| 1/2 deficit replaced in first 16 hrs
93
amount of K that can be given if low potassium in DKA?
60meq K / Liter
94
when to add Glucose into fluids in DKA?
when it drops to < 300
95
if/when should bicarb be used in DKA?
| Goal bicarb?
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
fluid replacement in hypernatremic dehydration and hyperosmolar diabetic coma?
slow and steady! replace fluids over 36-48 hours
97
define hypercalcemia?
Ca >11mg/dL
98
Causes of hypercalcemia?
WISH
- Williams
- Ingestion (thiazide, Vit A or D) / prolonged immobilization
- Skeletal disorders
- Hyperparathyroid
99
Drug that can be used to tx Hypercalcemia?
Lasix
100
Define hypocalcemia?
Ical < 4.5 mg/dL (1mmol/L)
| Total cal: < 8.5 mg/dL
101
Causes of hypocalcemia?
```
PINK:
Pseudohypoparathyroid
Intake / Immune (Digeorge)
Nephrotic syndrome: low alb/low cal
Kidney: renal insuff, secondary hyperparathyroid
```
102
painful muscle spasms
seizures
vomiting
long QT
Hypocalcemia
103
developmental delay, short, obese, moon facies, calcified basal ganglia?
pseudohypoparathyroidism: high PTH and hypocalcemia
104
Two types of vitamin D resistant rickets and how to ddx?
Tx of each?
Genetics?
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
most common type of rickets in US? inher?
CAuse
Tx
X linked dominant hypophosphatemic rickets
eXcess phosphate loss, cannot convert 25 --> 1, 25 OH D
Tx w 1, 25 and phosphate
