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Neo Board Review MAP > Endocrinology > Flashcards

Endocrinology Flashcards

1
Q

Dominant neonatal thyroid hormone

A

T3

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2
Q

Thyroid hormone that is increased during times of critical illness among preterm infants

A

Reverse T3

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3
Q

Which hormone helps with male external genital development during the first trimester of pregnancy?

A

Placental hCG

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4
Q

Which hormone helps with male external general development after the 1st trimester of pregnancy?

A

LH

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5
Q

Osteomalacia

A

Normal osteoid production

Decreased mineralization

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6
Q

Which enzyme deficiencies cause ambiguous male genitalia?

A

17 a-hydroxylase deficiency
3 b-hydroxysteroid dehydrogenase deficiency
5 a-reductase deficiency

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7
Q

Which enzyme deficiencies cause ambiguous genitalia in females?

A

21 Hydroxylase deficiency
11 b-hydroxylase deficiency
3 b-hydroxysteroid dehydrogenase deficiency
Aromatase deficiency

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8
Q

When is the pituitary gland formed?

A

14 weeks gestation

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9
Q

What is the thyroid gland formed from?

A

Primitive pharyngeal floor and 4th pharyngobronchial pouch

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10
Q

When does the thyroid gland develop?

A

3-4 weeks gestation

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11
Q

When does iodide trapping begin?

A

8-10 Weeks gestation

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12
Q

When does T4 and T3 synthesis and secretion begin?

A

12 weeks gestation

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13
Q

Adequate quantities of ___ are essential for fetal thyroid hormone synthesis

A

Iodide

Fetus relies on transplacental transfer of iodine for supply

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14
Q

When does TSH secretion begin?

A

12 weeks gestation

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15
Q

Where is TRH produced during pregnancy?

A

Pancreas and hypothalamus until closer to term

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16
Q

When does TSH surge occur after birth?

A

Peaks at 30 minutes of life
Lasts 3 to 5 days
Due to being cold at birth

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17
Q

When do fetal T3 levels increase during pregnancy?

A

30 weeks

Thyroid gland able to convert T4 to T3 more effectively

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18
Q

Most common cause of congenital hypothyroidism?

A

Thyroid dysgenesis
No thyroid or it’s in the wrong place
1:4000

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19
Q

Causes of congenital hypothyroidism

A

Thyroid dysgenesis
Thyroid dyshormonogenesis 1:40000
Central hypothyroidism 1:100000
Transient hypothyroidism 1:40000

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20
Q

Causes of thyroid dyshormonogenesis

A

TSH unresponsiveness
Iodide trapping defect
Organization defect
Iodotyrosine deiodinase deficiency

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21
Q

Symptoms of congenital hypothyroidism

A 
Enlarged posterior fontanelle
Macroglossia
Prolonged jaundice
Delayed passage of meconium
Brittle hair/skin
Edema
Bradycardia
Decreased reflexes
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22
Q

What causes decreased thyroid function in premature neonates?

A

Low TBG
Limited TSH surge
Premature withdrawal from maternal contribution
Can resolve after six weeks of age

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23
Q

What hormones in sick preemies can inhibit and reduce TSH secretion?

A

Dopamine

Glucocorticoids

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24
Q

What can methimazole cause in infants?

A

Cutis aplasia

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25
Q

Are infants of mothers with maternal Graves’ disease hypo or hyperthyroid?

A

Can be either

Thyroid receptor blocking antibodies and thyroid stimulating antibodies both cross the placenta

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26
Q

Treatment for hyperthyroidism

A

The order matters

  1. Methimazole
  2. Iodide (stuns thyroid, saturates receptors)
  3. Beta blocker (Controls HR)
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27
Q

What forms the anterior pituitary?

A

Evagination of oropharynx

Rathkes pouch

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28
Q

What forms the posterior pituitary?

A

Evagination of the floor of the third ventricle

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29
Q

When does the hypothalamic-pituitary axis mature?

A

20 weeks of gestation

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30
Q

Importance of testosterone from testes

A

Needed to allow for penile length

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31
Q

What is increased in 3beta HSD?

A

Pregnenolone
17-OH pregnenolone
DHEA

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32
Q

Symptoms of 3beta HSD

A 
Salt wasting (no aldosterone)
Cortisol deficiency
Undervirilized male, virilized female

Newborn screen won’t catch this

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33
Q

Symptoms of 17beta HSD

A

Undervirilized male
Sufficient aldosterone and cortisol
Increased androstenedione

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34
Q

Symptoms of 5alpha reductase deficiency

A

Undervirilized male

Testes at 12 - enough testosterone with puberty to -> external genitalia development

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35
Q

Micropenis with decreased GnRH

A

GnRH receptor mutation

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36
Q

Micropenis with increased GnRH

A

LH receptor mutation

37
Q

Symptoms of 21 hydroxylase deficiency

A

Salt wasting
Cortisol deficiency
Virilized female

38
Q

Elevated 17 OHP

A

21 hydroxylase deficiency

39
Q

Genetics of 21 hydroxylase deficiency

A

Autosomal recessive

CYP21A2 gene

40
Q

Symptoms of 11 hydroxylase deficiency

A

Elevated deoxycorticosterone -> hypertension

Overvirilized female

41
Q

How does maternal calcium adapt during pregnancy?

A

Increase calcium from gut and skeleton

Decreased calcium in urine

42
Q

How much of total calcium is accumulated during the third trimester?

43
Q

When do phosphorus and magnesium accretion peak during pregnancy?

A

Third trimester

Ca > Phos > Mag

44
Q

Mineral accretion is directly correlated to ___

A

Fetal weight gain

45
Q

What are the actions of parathyroid hormone?

A

Increase Ca gut resorption
Decreased calcium in the urine
Increased calcium in the bone

46
Q

What hormone does vitamin D need?

47
Q

What role does PTH play in vitamin D metabolism?

A

25-OH -> 1,25-OH vitamin D

48
Q

When does the fetal kidney have full capacity for vitamin D hydroxylation?

A

24 weeks gestation

49
Q

What happens if maternal vitamin D levels are low?

A

Congenital rickets

No vitamin D to cross the placenta

50
Q

What are the effects of estrogen on bone metabolism?

A

Increased mineral accretion in bone

51
Q

What is the effect of GH on bone metabolism?

A

Proliferation of chondrocytes

52
Q

What is the effect of PTHrP on bone metabolism?

A

Differentiation and proliferation of resting chondrocytes

53
Q

What is the effect of vitamin A on bone metabolism?

A

Deficiency inhibits longitudinal bone growth

54
Q

What is the effect of elevated calcitonin on bone metabolism?

A

Inhibition of bone resorption

Worse for bones

55
Q

Umbilical Cord versus maternal calcium levels

A

Cord calcium levels are 1-2 mg/dL higher than maternal concentration

56
Q

Neonatal compensation after birth for calcium

A

Increase PTH
Increase efficiency of intestinal Ca absorption (without vitamin D) - 1 month only
Renal maintenance of Ca and Phos homeostasis

57
Q

Why do IDM babies have hypocalcemia?

A

Decreased transplacental transfer of calcium

2/2 increased urinary excretion of Ca and Mg (maternal glycosuria)

58
Q

Which mineral is needed for PTH release?

59
Q

Why do blood transfusions lead to hypocalcemia?

A

Transfused blood contains citrate which sequesters calcium

60
Q

Why do glucocorticoids lead to hypocalcemia?

A

Transient suppression of bone turnover - Decreased osteoblast proliferation/activity

61
Q

What mineral in TPN reduces vitamin D conversion in the kidneys?

A

Aluminum

Leads to decreased PTH secretion

62
Q

Which medications can decrease calcium levels?

A

Caffeine
Loop diuretics
Glucocorticoids

63
Q

What is the primary nutritional cause of developing osteopenia of prematurity?

A

Phosphorus deficiency

64
Q

All enzymatic processes using phosphorus as an energy source require ___ for activation

65
Q

Familial hypocalciuric hypercalcemia

A

Inactivation of calcium sensing receptor in kidney

PTH is elevated

66
Q

What is the principal metabolic fuel for the brain?

67
Q

Where does a fetus get its glucose from?

A

Maternal glucose thru placental transfer via GLUT1 receptor

There is no fetal endogenous production of glucose

68
Q

What happens at birth once the neonates glucose transfusion is disrupted?

A

3-5X increase in glucagon
Increased epinephrine
Increased growth hormone
Decreased insulin

69
Q

What are some adaptive mechanisms during a fast/hypoglycemia?

A

Glycogenolysis
Lipolysis
Gluconeogenesis
Ketogenesis

70
Q

What are the four neonatal sources of glucose?

A

Dietary
Glycogen stores from liver
Cleavage of complex sugars from the gut
Gluconeogenesis

71
Q

Definition of neonatal hypoglycemia

A

<50 first 48 hours

<60 After 48 hours

72
Q

Causes of transient neonatal hypoglycemia

A

Immature adaptation

Hyperinsulinism

73
Q

Causes of prolonged neonatal hypoglycemia

A

Hyperinsulinism due to:
IUGR, prematurity
Birth asphyxia
Maternal toxemia/preeclampsia

74
Q

Causes of persistent neonatal hypoglycemia

A

Hormonal- Hyperinsulinism, deficiency of cortisol or GH
Glycogenolysis disorders
Gluconeogenesis disorders
Fatty acid oxidation disorders

75
Q

During hyoglycemia what should the insulin level be?

A

Undetectable

76
Q

Congenital hyperinsulinism

A

Due to a focal lesion or entire pancreas secreting insulin

CT and PET scan with 18 fluro L dopa scan can differentiate between the two

77
Q

Congenital disorders of glycosylation

A

Carbohydrate deficient glycoprotein syndrome

Cannot make N-linked oligosaccharides

78
Q

Symptoms of Congenital disorders of glycosylation

A 
Hypoglycemia
Developmental delay
FTT
Hypotonia
Coagulopathy
Acquired hypothyroidism
Seizures
79
Q

Most common cause of neonatal hyperglycemia

A

Iatrogenic

80
Q

Transient Diabetes in neonates

A

First 4-6 weeks of life
Mutation on chromosome 6
Self resolves between 3-6 months of age
Large insulin requirements

81
Q

Permanent causes of neonatal hyperglycemia

A

Pancreatic agenesis
Mutations in glucokinase
Mutations in sulfonylurea receptor
Wolcott-Rallison syndrome

82
Q

Wolcott-Rallison syndrome

A

Cause of neonatal hyperglycemia
Cardiac/hepatic/renal anomalies
Multiple epiphyseal/spondyloepiphyseal dysplasia

83
Q

Symptoms of Neonatal diabetes mellitus

A 
First 6 months of life
IUGR
Dehydrated
Poor weight gain
Hyperglycemia
84
Q

Genetic defect in neonatal diabetes mellitus

A

KCNJ11 or ABCC8

Activating mutations in K-ATP channels in pancreas

85
Q

Genetics of DEND syndrome

A

KCNJ11 mutation
Chr 11p15.1
Only 20% of patients with this mutation develop DEND syndrome
All will have diabetes mellitus

86
Q

Symptoms of DEND syndrome

A

Developmental delay
Epilepsy
Neonatal diabetes


87
Q

Thyroid surge in SGA versus AGA neonates

A

TSH higher and T4 lower in SGA neonates compared to AGA

88
Q

Thyroglobulin is ___ in preterm infants compared to term infants

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