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מבחן גמר בילדים > אנדוקרינולוגיה > Flashcards

אנדוקרינולוגיה Flashcards

1
Q

איזה מעקב מעבדתי נדרש במטופלים תחת
GH?

A

תפקודי תריס ואדרנל

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2
Q

all of the following will raise suspicion to white type of condition?

Hypoglycemia
face malformations (cleft lip)
micropenis
אשכים טמירים

A

Multiple pituitary hormone deficiency

Tx- השלמת החסרים ההורמונליים

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3
Q

what is the most common cause of aqiuerd hypopituituism?

A

Caniopharngioma

tumor of Rathke pouch- שכיח במתבגרים

Dgx- MRI
Tx- surgery

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4
Q

Dgx of GH def.

A
  1. low levels of IGF-1 (correlate to bones age)
  2. confirmation of Dgx-two challenge test for GH by:
    arginine / glucagon/ clonidine/ insulin
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5
Q

Which syndrome is a/w resistance to GH?
what will the lab show? GH and IGF-1

A

mutation in GH receptors&raquo_space; no sensetivity to GH

עד גיל שנה ירידה אל מתחת 4 סטיות תקן

low IGF-1
high GH

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6
Q

Primary ammanorea def.?

A

absance of period > 16
or no secondary sex cheracteristics > 13

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7
Q

Primary amanohrrea + high FSH and LH
can indicate?

A

gonads insuff./ agenesis of ovaries- like Turner or AIS

if low - can be from the hypothalamus like kellman syndtome (ansomnia), or athletes, systemic disease, anorexia

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8
Q

Craniopharngioma , athletes, kallmann syndrome can present as:
hypogonadothrophic hypogonadism or hypergonadothropic hypogonadism

A

hypogonadothrophic hypogonadism

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9
Q

clinical findings of kallmann syndrome?

A

low FSH + LH
no response to challenge GNRH or GHRH

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10
Q

What is the most common cause of hypergonadothropic hypogonadism

A

Kliflenter syndrome 47XXY

high, gnycomastia, small testis, intelligence in correlation of karyotype- more X mor dumb

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11
Q

Dgx of Klifletner syndrome?

A

Karyotype- 47XXY
high gonadothroph
low testosterone

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12
Q

Which type of formula is needed for turner syndrome?

what will be eleveted in stool

A

high alpha-1 AT in stool

formula- based on proteins + medium chain TG (MCT)

in turner heart anomalies are left.
noonan are more right

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13
Q

most common cause of verilization with female karyotype? (46XX)

A

Congenital adrenal hyperplasia

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14
Q

Clinical findings of Androgen insenstvity syndrome?

A

karytope XY46
external female genitalia- no uterus
breast
ammanorhea and no hair on pubic or axilla
abdomen testicles- can transform to malignancy

can be also just partieal- variable phenotypye

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15
Q

Precocious puberty definition

A

הנצת שידיים < גיל 8
הגדלת אשכים < גיל 9 בבנים

*גיל עצמות מעל 2 סטיות תקן מעל הנורמה

נמדוד רמות גונדוטרופינים ולאחר מכן נקבע אתיולוגיה ע”י מבחן גירוי GNRH

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16
Q

What are the 2 main etiologies of precocoius puberty?

A
  1. central (early activation of hypothalamic-pituatary axis) - idiopathis CNS lesions (hypothlamic / pituatary)
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17
Q

Clinical presenation of central precocious puberty?

A

early breasts/ tasticular development and early onset of pubic hair/ body odor/ acne

*might also present some CNS symptoms

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18
Q

Dgx and Tx for Central precocious puberty

A

Dgx- eleveted FSH, LH, estradiol and testosterone

Tx- GnRH agonists - leuprolide
MRI brain to asees lesions in the CNS

GnRH agonist- supress FSH and LHand pause puberty to acheive height potential

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19
Q

Peripheral precocious puberty
etiologies?

A

Gonadotropin independent&raquo_space; cause by Excess andogenous gonasal hormones / adrenals / exogneous exposure

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20
Q

Levels of Gonadothropins in Peripheral precocious puberty

encorinology lab reasults

A

low FSH and LH
and eleveted level of GH = excelerate growth

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21
Q

MacCune albright syndrome

clinical menefistation and labs

A

Triad
* cafe-au leit
* bone lesions on XR
* overfunction of the peripheral endocrine function

no response for GnRH test = LH wil remain low

exmaple of Peripheral precocious puberty

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22
Q

When Telrarche (premature breast) is consider pathological?

A

after age of 3.

mainly in 2 first years of life, self limited and sporadic. genitalia is not developed

23
Q

Tx for graves?

A

methimazole

24
Q

most common cause of congenital hypothyroidism?

A

dysgenesis of thyroid glans (33%)

Abscence, hypoplastic or ectopic

25
Q

which congenital hypothyroidism will be presented with goiter?

A

Dyshormongenesis- problem in producing thyroid hormones

26
Q

which maternal Abs are a/w transiotional hypothyroidism?

A

TRBab&raquo_space; against TSH receptors

27
Q

Which type of diet is a/w hypothyroidism?

A

Vegan
טבעוני

28
Q

Tx for congenital hypothyroidism?

A

Levothyroxin ASAP

to prevent IQ devrease, motor lesions and ect.

29
Q

What are the two most common types of aq hypothyroidism?

A

Lympocistic thyroiditis and hasimoto

30
Q

A girl age 9 present with short sature and hard not sensetive goiter. on clinical exmination the pt tell that she have finding correlate with hypothyroidism.

which type of Ab are most likley to be present?

A

Anti-TPO

Hasimoto

31
Q

What is the triad of autoimmune polyendocrine syndrome?

A
  1. chronic candida
  2. hypo-parahyroidism
  3. primary adrenal insuff.

10% will present with hasimoto

AR inheritence

32
Q

which autoimmune disease is a/w high prevalence with autoiimune polyendocrine syndome type 2

A

hasimoto (70%)

also DM1, Celiac…

33
Q

which enzyme is found to be deff. in > 90% of pt with CAH?

and which substrate will be eleveted?

A

21-hydroxylase

elevation of:
7-hydroxyprogesterone&raquo_space; more endrogens made

less cortisol + aldosterone + high ACTH (hyperplasia of the adrenal)

34
Q

Which electrolyte and acid base displace a def. in aldosterone will cause?

A

hyponathremia
+
hyperkalemia metabolic acidosis

35
Q

latreghy, weight loss, hypoglycemia, hypotension and vomiting are all a/w with kind of hormone deff.?

A

Crotisol

36
Q

a kid present with low cortisol, aldosterone , high renin and hyperkalemia with metabolic acidosi. is ACTH is high and andogens are high.

what is the next step in order to dgx the condition?

A

Check serum 17-hydroxyprogesterone levels
if high = indicitave

37
Q

What will happen in CAH (21-hydroxylase) under sinactene test?

A

given ACTH&raquo_space; high levels of 17-hydroxyprogesterone + low cortisol levels

38
Q

what is the female phynotype of CAH?

A

ambigous genitalia (virilizaiton)

39
Q

Tx for acute adrneal insuff.

A

IV fluids + glucose 5% + hydrocortisone

40
Q

Dgx of addison disease (adrenal insuff.)

A

low cortisol levels + in response to ACTH

Tx- hydrocortisone + mineralocorticoids

41
Q

Cushing definition?

A

excess of cortisol

42
Q

most common cause of cushing in kids + kids > 7 yrs

A

overall- prolong exposure to steroids

kids > 7 - hypopyseal adenoma producing ACTH (70%)

43
Q

Clinical presentation of kids with cushing?

A
  • low bone age
  • obesity
  • slow growth progression
  • acne

could also present with HTN

in older kids- we can see the purple striea

44
Q

Dgx of cushing is a 3 step approch.

what are the 3 steps?

A
  1. cortisol levels
    * midnight cortisol > 4.4 mkg/dL
    * 24h urine cortisol
    * Dexamethson suppression test- positive test > 5 mkg/dL in morning cortisol
  2. Check ACTH levels
    * high ACTH- tumors or adenoma
    * low ACTH- cortisol secreting
  3. only if ACTH normal /high &raquo_space; Check ACTH dependency by given CRH- test
    * eleveted ACTH levels&raquo_space; cushing dependent- pituatary adenoms
    * no change in ACTH&raquo_space; Ectopic ACTH secreting tumors
45
Q

How much cases of DM1 w/o family Hx?

and what could be protective factor?

A

85% without family Hx

Breastmilk- might play a role in protective against ACTH

46
Q

מהי הרכב התזונה המומלצת עבור חולי סכרת סוג 1

מבחינת %
פחמימות
שומן
חלבון

A

פחמימות 55% - 70% מתוכן מורכבות
30% שומן
15% חלבון

אין מניעה לספורט תחרותי

47
Q

Recommended Tx regimen for DM1

A

long Basal insulin + short acting around meals

can change to 3 total injections:
1. intermediate (NPH) + short acting morning
2. evening

48
Q

Tx for DKA in first hour and second hour

A

**1st hour **
* iv fluid- bolus 10-20 ml/kg
* insulin- drip 0.1 units/g/hr
2nd hour
* half seline + drip insulin + K + 5% glucose (if glucose levels < 250)

K- C/I for insulin when K > 3. give K only in values < 5.5

49
Q

comlication of DKA

A

Cerebral edema (5%)

mostly 6-12 hrs after Tx is initiate

50
Q

diabetes insipidus definition and dgx?

A

central problem in ADH:
1. in secretion
2. in kidney to sense ADH

Dgx
Serum olsmolality > 300
Urine osmolarity < 300

51
Q

Tx for central DI?

A

nasal /PO Desmopressin (DDAVP)
followup for hyponatremia and fluid overload

52
Q

DI after head trauma electroly disbalance?

A

DI + hypernathremia

53
Q

Dgx of congenital hyperinsulinism?

A

insulin > 5uU/ml
+
absence of ketones

mainly LAG babies

54
Q

what is the approch for hypoglecemia?

A
  1. check for ketones&raquo_space; no ketone = congenital hyperinsulinism or def. in TG oxidation

מבחן גמר בילדים (23 decks)

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