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NICU Board Review > Endo > Flashcards

Endo Flashcards

1
Q

What is the the mode of inheritance of PAIS?

A 
Chromosomes:
FiSH SRY+
46 XY
***LH/testosterone
responsive to HCG stim
test***
X-linked recessive - 50% of
XY children born to
maternal carriers are
symptomatic - aunt with
¡pAst i/YAgay be xr with
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2
Q

How does calcium increase in newborn postnatally?

A

Increase in PTH

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3
Q

What are classic causes of neonatal hypocalcemia?

A

Gestational diabetes and preeclampsia

Mothers have PTH dysfunction that doesn’t affect mothers but does affect babies

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4
Q

What is cutoff of TSH that will make you more likely to treat based in NBS?

A

Tsh>40

Send confirmatory testing and treat right away

Confirmatory tsh>20 after 24hrs and >10 after 7 days suggestive of hypothyroidism

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5
Q

Maternal thyroid hormone is critical in which trimester?

A

First trimester development

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6
Q

Which is most common cause of congenital hypothyroidism?

A

Dysgenesis 85%

Ectopic thyroid is most common

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7
Q

Most sensitive and specific test of hypothyroidism ?

A

TSH

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8
Q

Dopamine infusion can lead to transient _______ in TSH

A

Decrease

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9
Q

Good measure of thyroid function?

A

Free T4

Only free form can enter the cell

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10
Q

What is Pendred Syndrome?

What is the association with hypothyroidism?

A

Deafness (CN 8)
Goiter
Hypothyroidism
AR

Cause of permament primary hypothyroidism
Iodide organification defect

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11
Q

What does T3 resin uptake measure?

A

Amount of unsaturated binding sites on TBG

Resin uptake is inversely proportional to the number of binding sites on TBG

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12
Q

Management of neonatal DI

A

Thiazide diuretics are preferred over DDAVP as the dosing for DDaVP is difficult in neonates and can lead to swings from hyper to hyponatremia

Thiazides work by decreasing distal tubular reabsorption of sodium via inhibition of sodium-chloride cotransported resulting in natriuresis and volume contraction which results in increased water and Na reabsorption in distal tubule and collecting duct.

Adding free water to formula may lead to FTT and not recommended

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13
Q

Which thyroid hormone transfers freely across the placenta?

A

Thyroyropin releasing hormone

Also TSH receptor stimulating and blocking antibodies

T3 and T4 are partially permeable

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14
Q

Most common cause of virilization of genetic female neonate is?

A

CAH

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15
Q

The optimal postnatal age to determine baseline thyroid function in newborn?

A

24 hrs

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16
Q

How does hydrocort help with BP?

A

Inhibits catecholamine metabolism, blocking reuptake of circulating catecholamines-> increasing BP

2dary effect: upregulates cardiovascular adrenergic receptors

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17
Q

Where is calcium stored in the body?

When and how is is transferred during pregnancy?

A

Skeletal system contains
99% of whole body calcium
85% phosphorus
65% magnesium

3rd Trimester - 80% of Ca+ and phosphorus are transferred by active transport across the placenta (*regardless of maternal status)

From 24 weeks onwards the accretion rates are
Ca 120mg/kg/d
Phos 60mg/kg/d

18
Q

Aside from glucose and insulin, what compound(s) contribute to the development of macrosomia in IDM babies?

A

Insulin like growth factor 1

Insulin like growth factor binding protein 3

19
Q

Whst is the gold standard for assessing bone mineralization and fragility?

A

Dual energy x ray absorptiometry

DEXA scan

20
Q

Term neonate
hyponatremic hypokalemic crisis
Normal glucocorticoid and androgen secretion

What is most likely gene mutation causing this enzyme defect ?

A

CYP21

Mutation of 21 hydroxylase gene CYP21 is MCC of CAH in North America

21
Q

How do you treat a symptomatic baby with congenital hyperthyroidism from maternal Graves’ disease

A

“PTU (propylthiouracil) or carbimazole (methimazole) to inhibit organification and block peripheral conversion of T4 to more active T3

  • Both will be detected in breastmilk

 Beta-blocker (propranolol) to control tachycardia and inhibit peripheral conversion from T4 to T3”

22
Q

When does the fetal thyroid gland begin secreting thyroid hormone?

A

12 weeks

23
Q

In the 1st trimester, testosterone production from the Leydig cells is driven by _______

A

Placental human chorionic gonadotropin (HCG)

24
Q

_________ increases in the 2nd trimester and stimulates phallic enlargement and trsticukar descent.

A

Fetal pituitary luteinizing hormone

25
Q

Thyroid gland develops from

A

Median endodermal thickening in primitive pharyngeal floor at 5-7 weeks gestation

26
Q

WHat GA does TRH production, thyroglobulin, TSH and thyroid hormone start?

A

TRH from hypothalamus ar 6-8 weeks
Thyroglobulin ~8 weeks
Iodide starts accumulating at 10 weeks
TSH by pituitary gland and thyroid hormones~12 weeks

27
Q

What medication can cause transient decrease in TSH?

A

Dopamine

28
Q

What is the preferred drug for treating maternal hyperthyroidism?

A

PTU

Assoc’d with face and neck cysts

29
Q

T or F

Methimazole is a first line agent in the first trimester for treatment of maternal hyperthyroidism

A

False

Disrupts organogenesis
- choanal atresia, EA, cutis aplasia,
abdominal wall defects, VSD

Use AFTER 1st trimester

30
Q

Which hyper insulinism
patients are responsive to diazoxide?

Which pts do not respond?

A

Respond

  • Hyper insulinism hyper ammonemia syndrome
  • deficiency in short chain L3 hydroxyacyl coenzyme a dehydrogenase

No response
- inactivating mutations in ABCC8 or KCNJ11 gene

Diazoxide is a K ATP channel agonist

31
Q

In comparison to term neonate, preterm neonates gave higher serum concentrations of which thyroid enzyme/hormone?

A

Thyroglobulin (likely due to decrease degradation or clearance)

Premies have lower TBG and therefore T4

32
Q

How does stressful deliveries and RDS affect cortisol levels in preemies?

A

Increases cortisol levels

33
Q 
T or F 
Erythropoietin levels (fetal and AF) are markers of intrauterine chronic hypoxia
A

True

Chronic fetal hypoxia is seen with IDDM pregnancies

Fetus adapts to chronic hypoxia by increasing its oxygen carrying capacity (with erythropoietin synthesis)

34
Q

Drugs that affect thyroid function (T4)

A

Increased T4 - Aminophylline

Variable reductions T4- sepsis, IVH, dopamine, MSO4

35
Q

Compare to preemie formulas, human milk contains what fraction of calcium and phosphorus?

A

1/5 👀

36
Q

When would benefit from phosphorus supplementation in metabolic bone disease?

A

High TRP levels
Low to normal PTH
hypophosphatemia

37
Q

How to calculate TRP levels?

A

Tubular Réabsorption of Phosphorus

TRP = 1- [(urine phos x serum Cr) / (serum phos x urine Cr)] x100

38
Q

Which enzyme is involved in glucose regulated insulin secretion?

A

Glucokinase - glucose phosphorylation

39
Q

Which maternal drug may lead to a false positive nbn screen for hypothyroidism ?

(Excess iodine)

A

Amiodarone

40
Q

Pendred syndrome

A

AR organification defect with congenital eight nerve abnormality leading to deafness, goiter during childhood

Dx Positive percholate discharge test with rapid loss of radioactive iodine from thyroid gland

41
Q

Maternal diabetes is associated with which type of cardiac anomaly?

A

Hypertrophic cardiomyopathy, VSD, TGA

Renal anomalies, caudal regression , NTD, small left colon

42
Q

Most common cause of congenital hypothyroidism

A

Thyroid dysgenesis (75%)

2/2 complete or partial absence of thyroid gland

NICU Board Review (19 decks)

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