אנדוקרינולוגיה Flashcards
איזה מעקב מעבדתי נדרש במטופלים תחת
GH?
תפקודי תריס ואדרנל
all of the following will raise suspicion to white type of condition?
Hypoglycemia
face malformations (cleft lip)
micropenis
אשכים טמירים
Multiple pituitary hormone deficiency
Tx- השלמת החסרים ההורמונליים
what is the most common cause of aqiuerd hypopituituism?
Caniopharngioma
tumor of Rathke pouch- שכיח במתבגרים
Dgx- MRI
Tx- surgery
Dgx of GH def.
- low levels of IGF-1 (correlate to bones age)
-
confirmation of Dgx-two challenge test for GH by:
arginine / glucagon/ clonidine/ insulin
Which syndrome is a/w resistance to GH?
what will the lab show? GH and IGF-1
mutation in GH receptors»_space; no sensetivity to GH
עד גיל שנה ירידה אל מתחת 4 סטיות תקן
low IGF-1
high GH
Primary ammanorea def.?
absance of period > 16
or no secondary sex cheracteristics > 13
Primary amanohrrea + high FSH and LH
can indicate?
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
Craniopharngioma , athletes, kallmann syndrome can present as:
hypogonadothrophic hypogonadism or hypergonadothropic hypogonadism
hypogonadothrophic hypogonadism
clinical findings of kallmann syndrome?
low FSH + LH
no response to challenge GNRH or GHRH
What is the most common cause of hypergonadothropic hypogonadism
Kliflenter syndrome 47XXY
high, gnycomastia, small testis, intelligence in correlation of karyotype- more X mor dumb
Dgx of Klifletner syndrome?
Karyotype- 47XXY
high gonadothroph
low testosterone
Which type of formula is needed for turner syndrome?
what will be eleveted in stool
high alpha-1 AT in stool
formula- based on proteins + medium chain TG (MCT)
in turner heart anomalies are left.
noonan are more right
most common cause of verilization with female karyotype? (46XX)
Congenital adrenal hyperplasia
Clinical findings of Androgen insenstvity syndrome?
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
Precocious puberty definition
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
What are the 2 main etiologies of precocoius puberty?
- central (early activation of hypothalamic-pituatary axis) - idiopathis CNS lesions (hypothlamic / pituatary)
Clinical presenation of central precocious puberty?
early breasts/ tasticular development and early onset of pubic hair/ body odor/ acne
*might also present some CNS symptoms
Dgx and Tx for Central precocious puberty
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
Peripheral precocious puberty
etiologies?
Gonadotropin independent»_space; cause by Excess andogenous gonasal hormones / adrenals / exogneous exposure
Levels of Gonadothropins in Peripheral precocious puberty
encorinology lab reasults
low FSH and LH
and eleveted level of GH = excelerate growth
MacCune albright syndrome
clinical menefistation and labs
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
When Telrarche (premature breast) is consider pathological?
after age of 3.
mainly in 2 first years of life, self limited and sporadic. genitalia is not developed
Tx for graves?
methimazole
most common cause of congenital hypothyroidism?
dysgenesis of thyroid glans (33%)
Abscence, hypoplastic or ectopic
which congenital hypothyroidism will be presented with goiter?
Dyshormongenesis- problem in producing thyroid hormones
which maternal Abs are a/w transiotional hypothyroidism?
TRBab»_space; against TSH receptors
Which type of diet is a/w hypothyroidism?
Vegan
טבעוני
Tx for congenital hypothyroidism?
Levothyroxin ASAP
to prevent IQ devrease, motor lesions and ect.
What are the two most common types of aq hypothyroidism?
Lympocistic thyroiditis and hasimoto
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?
Anti-TPO
Hasimoto
What is the triad of autoimmune polyendocrine syndrome?
- chronic candida
- hypo-parahyroidism
- primary adrenal insuff.
10% will present with hasimoto
AR inheritence
which autoimmune disease is a/w high prevalence with autoiimune polyendocrine syndome type 2
hasimoto (70%)
also DM1, Celiac…
which enzyme is found to be deff. in > 90% of pt with CAH?
and which substrate will be eleveted?
21-hydroxylase
elevation of:
7-hydroxyprogesterone»_space; more endrogens made
less cortisol + aldosterone + high ACTH (hyperplasia of the adrenal)
Which electrolyte and acid base displace a def. in aldosterone will cause?
hyponathremia
+
hyperkalemia metabolic acidosis
latreghy, weight loss, hypoglycemia, hypotension and vomiting are all a/w with kind of hormone deff.?
Crotisol
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?
Check serum 17-hydroxyprogesterone levels
if high = indicitave
What will happen in CAH (21-hydroxylase) under sinactene test?
given ACTH»_space; high levels of 17-hydroxyprogesterone + low cortisol levels
what is the female phynotype of CAH?
ambigous genitalia (virilizaiton)
Tx for acute adrneal insuff.
IV fluids + glucose 5% + hydrocortisone
Dgx of addison disease (adrenal insuff.)
low cortisol levels + in response to ACTH
Tx- hydrocortisone + mineralocorticoids
Cushing definition?
excess of cortisol
most common cause of cushing in kids + kids > 7 yrs
overall- prolong exposure to steroids
kids > 7 - hypopyseal adenoma producing ACTH (70%)
Clinical presentation of kids with cushing?
- low bone age
- obesity
- slow growth progression
- acne
could also present with HTN
in older kids- we can see the purple striea
Dgx of cushing is a 3 step approch.
what are the 3 steps?
-
cortisol levels
* midnight cortisol > 4.4 mkg/dL
* 24h urine cortisol
* Dexamethson suppression test- positive test > 5 mkg/dL in morning cortisol -
Check ACTH levels
* high ACTH- tumors or adenoma
* low ACTH- cortisol secreting -
only if ACTH normal /high »_space; Check ACTH dependency by given CRH- test
* eleveted ACTH levels»_space; cushing dependent- pituatary adenoms
* no change in ACTH»_space; Ectopic ACTH secreting tumors
How much cases of DM1 w/o family Hx?
and what could be protective factor?
85% without family Hx
Breastmilk- might play a role in protective against ACTH
מהי הרכב התזונה המומלצת עבור חולי סכרת סוג 1
מבחינת %
פחמימות
שומן
חלבון
פחמימות 55% - 70% מתוכן מורכבות
30% שומן
15% חלבון
אין מניעה לספורט תחרותי
Recommended Tx regimen for DM1
long Basal insulin + short acting around meals
can change to 3 total injections:
1. intermediate (NPH) + short acting morning
2. evening
Tx for DKA in first hour and second hour
**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
comlication of DKA
Cerebral edema (5%)
mostly 6-12 hrs after Tx is initiate
diabetes insipidus definition and dgx?
central problem in ADH:
1. in secretion
2. in kidney to sense ADH
Dgx
Serum olsmolality > 300
Urine osmolarity < 300
Tx for central DI?
nasal /PO Desmopressin (DDAVP)
followup for hyponatremia and fluid overload
DI after head trauma electroly disbalance?
DI + hypernathremia
Dgx of congenital hyperinsulinism?
insulin > 5uU/ml
+
absence of ketones
mainly LAG babies
what is the approch for hypoglecemia?
- check for ketones»_space; no ketone = congenital hyperinsulinism or def. in TG oxidation
