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endocrine Flashcards

0
Q

What is responsible for regression of female internal structures in XY males?

A

Presence of mullerian inhibiting factor

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1
Q

What is responsible for the formation of male external genitals in XY infants?

A

Presence of androgens

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2
Q

What is the age at which precocious puberty can be defined?

A

In boys - age 9

In girls - age 7

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3
Q

What is the first step in diagnosis of a child with premature adrenarche?

A

Bone age

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4
Q

What is the appropriate treatment in a child with premature adrenarche but normal bone age?

A

Follow clinically

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5
Q

What androgens are typically high in premature adrenarche?

A

DHEA and DHEAS

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6
Q

What may be a cause of premature adrenarche?

A

Exogenous or endogenous androgen OR late onset CAH

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7
Q

What should be done in a child with premature adrenarche and advance bone age?

A

ACTH stimulation test and

Serum testosterone

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8
Q

What is the cause of premature thelarche?

A

Exogenous or endogenous estrogen OR premature activation of the hypothalamic pituitary axis

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9
Q

What is the underlying cause of persistant Müllerian duct syndrome ?

A

Mullerian inhibiting substance not formed or there is a lack of receptors

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10
Q

What is the diagnosis in an XY male with formation of uterus, Fallopian tubes and upper vagina?

A

Persistant Müllerian duct syndrome

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11
Q

What is the phenotypic findings in klinefelter syndrome ?

A

Small testicles and penis

No internal or external female genitalia

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12
Q

What is the inheritance pattern of androgen insensitivity ?

A

X linked

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13
Q

What is the underlying cause of an XY male with no external male genitalia and a blind ending vagina with no uterus?

A

Androgen insensitivity - peripheral receptors are resistant to testosterone

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14
Q

Which 3 syndromes may present with panhypopituitarism?

A

Prader Willi
Kallmann
Septo-optic dysplasia

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15
Q

What condition is due to increased androgen causing ambiguous genitalia in females and excessive scrotal pigmentation in males?

A

Congenital adrenal hyperplasia

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16
Q

How is CAH inherited?

A

Autosomal recessive

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17
Q

What is the most common cause of CAH?

A

21 hydroxylase deficiency

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18
Q

What lab findings will be present in congenital adrenal hyperplasia?

A

Low Na
High K
High 17 hydroxyprogesterone

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19
Q

How is prenatal screening for CAH performed?

A

Molecular genetic testing of fetal cells

NOT via amniotic fluid measurement of 17 hydroxyprogesterone

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20
Q

What should be done if 17 hydroxyprogesterone assay is positive?

A

Repeat. If positive again, get serum electrolytes and urinary excretion of Na/k

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21
Q

How is congenital adrenal hyperplasia treated?

A

Hydrocortisone

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22
Q

What is the name of primary adrenal deficiency ?

A

Addison

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23
Q

What are the classic symptoms of Addison disease?

A

Hyperpigmentation due to high ACTH

Low Na and high K due to low aldosterone

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24
Q

How is secondary adrenal deficiency different from primary adrenal deficiency?

A 
In secondary deficiency...
The problem is the pituitary gland
Normal ACTH (no hyperpigmentation)
Normal aldosterone (normal K and Na)
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25
Q

What symptoms can present if a patient abruptly stops taking glucocorticoids?

A

Signs of adrenal insufficiency …muscle weakness, decreased BP, increased pulse

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26
Q

What 3 studies should be done if you suspect Turner syndrome ?

A

Karyotype
LH:FSH
TSH (Turner associated with hypothyroidism)

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27
Q

What diagnosis should you consider in a short female with scant Breast tissue and pedal edema?

A

Turner syndrome

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28
Q

Which disease should you consider in a patient with disproportionate short stature?

A

Achondroplasia

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29
Q

What disease shows early puberty followed by accelerated growth that ends with short adult height?

A

Congenital adrenal hyperplasia

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30
Q

What disease should you consider in an 11 year old with delayed bone age who is overweight?

A

Hypothyroidism

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31
Q

What is the most important determinant for ultimate adult height in a child who is tall for age?

A

Sexual maturity rating

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32
Q

What disease should you consider in a male with gynecomastia and learning disability?

A

Klinefelter

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33
Q

What disease should you consider in a child with tall statue who suffers from sudden death?

A

Marfan syndrome

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34
Q

What is the main fatal developmental anomaly in Marfan syndrome ?

A

Cardiac defect (Aortic aneurysm )

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35
Q

What disease presents as a tall child with large head circumference and cognitive deficits?

A

Soto’s syndrome

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36
Q

What diagnosis should you consider in a patient who is tall and overweight but has advanced bone age?

A

High caloric intake

37
Q

What is the likely explanation of a patient on levothyroxine whose T4 and TsH levels are both elevated?

A

Poor compliance

38
Q

What can be the long term consequences of delayed treatment of hypothyroidism?

A

Learning disability and diminished fine motor skills

39
Q

What diagnosis should you consider in a newborn with poor feeding, hypotonia, Macroglossia and a hoarse cry?

A

Hypothyroidism

40
Q

How long after treatment of started should T4 and TSH levels be rechecked?

A

1 month

41
Q

In secondary hypothyroidism, are TSH levels low or high?

A

TSH levels may be low or normal (dz is due to poor function of hypothalamus or pituitary gland)

42
Q

What is the other name for chronic lymphocytic thyroiditis?

A

Hashimotos

43
Q

What is the most common cause of goiter in adolescence?

A

Hashimotos

44
Q

What antibodies may be abnormal in hashimotos ?

A

Anti-thyroglobulin and anti-thyroid peroxidase

45
Q

What are the presenting symptoms of hashimotos?

A

Hypothyroidism (most commonly)

Can present in thyrotoxicosis with transient high thyroid hormone

46
Q

What disease is cause by thyroid stimulating immunoglobulin?

A

Graves’ disease

47
Q

What disease may present with decreased muscle strength, hyperactivity and lid lag?

A

Graves’ disease

48
Q

What GU symptoms may be present in Graves’ disease?

A

Increased urination at night
Decreased menstrual flow
Decreased frequency of menses

49
Q

How can you distinguish Graves’ disease from subacute thyroiditis?

A

Radioactive iodine uptake will be high in graves but low in subacute thyroiditis

50
Q

What would be the treatment for Subacute thyroiditis?

A

Supportive care / monitor

51
Q

What disease may cause irritability, tremors and SVT in the immediate newborn period ?

A

Neonatal thyrotoxicosis

52
Q

What is the treatment for neonatal thyrotoxicosis?

A

Methimazole or propylthiouracil
Radioactive iodine
Thyroidectomy

53
Q

What do you do if you discover a solitary thyroid nodule in an adolescent?

A

FNA !! Watchful waiting is the WRONG answer

54
Q

What type of radiation is a risk factor for thyroid cancer?

A

Ionizing radiation (UV radiation is not a risk factor)

55
Q

How do you distinguish a hot vs cold thyroid nodule?

A

Fine needle aspiration biopsy ( 131 iodine scan is no longer the correct answer)

56
Q

When should you suspect thyroid binding globulin (TBG) deficiency?

A

Abnormally low T4
Normal free T4
Euthyroid patient
Normal TSH

57
Q

What is the treatment for thyroid binding globulin deficiency?

A

Nothing! Normal free T4 is maintained

58
Q

What are the 4 ways to diagnose diabetes based on glucose levels?

A

2 random values >200.
Symptoms + 1 random glucose >200
Fasting glucose >126
2hr post GTT >200

59
Q

When should patients with type 1 diabetes have lipid level testing?

A

Starting at age 12

60
Q

When should type 1 diabetics have eye exams?

A

Starting at age 10

61
Q

If a patient comes in with high Na which corrects with rehydration, what should you consider?

A

Siadh

62
Q

When should bicarb be given to a patient in dka ?

A

When PH is <7.1 and only to bring it up to 7.2

Do not use if hypokalemia unless K supplements have been started !!

63
Q

How can you distinguish type 1 and type 2 diabetes via labwork?

A

Autoantibodies against pancreatic beta cells are present in type 1

64
Q

You are evaluating an obese child with acanthosis nigricans. What is the most likely lab finding?

A

Low HDL - trick question because acanthosis is correlated with insulin resistance not necessarily diabetes

65
Q

What are the 5 components of metabolic syndrome ?

A 
High triglycerides 
Low HDL 
HTN 
Fasting glucose >100
Truncal obesity
66
Q

What is the definition of hypercalcemia?

A

Calcium >11

67
Q

What are the 4 main causes of hypercalcemia ?

A

Williams syndrome
Ingestion (vit A and D, thiazides)
Skeletal dysplasia or immobilization
Hyperparathyroid

68
Q

What is the appropriate treatment for a child who has been bedridden for a prolonged period of time who develops high calcium but is otherwise well appearing?

A

Fluids, LASIx and EKG monitoring

69
Q

What is the definition of hypocalcemia?

A

Ionized Calcium <4.5 or total calcium <8.5

70
Q

What diagnosis should you consider in a patient with muscle spasms, seizures, vomiting and prolonged QT?

A

Hypocalcemia

71
Q

What is the name & cause of the finding where muscle contraction occurs when tapping anterior to the ear lobe?

A

Chvostek sign / hypocalcemia

72
Q

What is the name and cause of the carpal muscle spasm with blood pressure cuff inflation?

A

Trousseau sign / hypocalcemia

73
Q

What are the 5 main causes of hypocalcemia?

A 
Pseudohypoparathyroidism
Poor nutrition 
Digeorge syndrome
Nephrotic syndrome 
Renal insufficiency
74
Q

What is the likely diagnosis in a patient with hypocalcemia and hypophosphatemia?

A

Vitamin D deficiency

75
Q

What is the likely diagnosis in a patient with hypocalcemia and hyperphosphatemia?

A

Hypoparathyroidism

76
Q

What are the values of PTH and calcium in a patient with pseudohypoparathyroidism?

A

High PTH and low calcium

77
Q

What is the underlying problem in an LGA infant who is hypoglycemic and hypocalcemic?

A

Diabetic mother

78
Q

What is the likely diagnosis in a patient with seizures resistant to diazepam treatment?

A

Hypocalcemia

79
Q

What are the 4 risk factors for developing rickets?

A

Breastfeeding without vit D supplement
Poor exposure to sunlight
Low birth weight / prematurity
Anticonvulsant medications

80
Q

What are the 2 causes of rickets?

A

Low calcium and/or low phosphate

81
Q

What diagnosis should you consider in a patient with bone pain, anorexia, poor growth, widening wrists and delayed tooth eruption?

A

Rickets

82
Q

What is rachitic rosary?

A

Enlarged costochondral junctions due to rickets

83
Q

What lab findings confirm vitamin D deficient rickets?

A

High PTH
Low calcium
Low phosphate
Low 25 hydroxy vitamin D

84
Q

What is the cause of vitamin D dependent rickets type 1?

A

Inadequate renal production of 1,25 dihydroxy vitamin D

85
Q

How would you know the difference between the autosomal recessive vs nutritional deficiency as the cause of rickets?

A

In vitamin D dependent rickets there will be no clinical improvement with vitamin d replacement

86
Q

What are the lab findings in vitamin D dependent rickets?

A

Low calcium
Low phosphate
Very low 1,25 dihydroxy vitamin D
Normal 25-hydroxy vitamin D

87
Q

What is the difference between vitamin D dependent rickets type 1 and 2?

A

Type 1 has decrease 1,25dihydroxy vitamin D due to poor production
Type 2 has high 1,25dihydroxy vitamin D due to end organ resistance

88
Q

What is the cause X linked hypophospatemic rickets?

A

Excessive phosphate loss through the kidneys

89
Q

What is the treatment for X linked hypophospatemic rickets?

A

Phosphate and 1,25 dihydroxy vitamin D

90
Q

In which form of rickets is the PTH normal?

A

Vitamin d resistant (X linked familial hypophospatemia)

pediatric Boards (23 decks)

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