Endo Flashcards

1
Q

Pubic hair and penile enlargement without testicle enlargement. What do you think of

A

Androgen stimulation from outside gonadal area

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

When is puberty considered delayed

A

No breast by 13 female

No testicle enlargement by 14

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Ddx for delayed puberty in females

A

Functional gonadotropin deficiency - anorexia

Constitutional delay

Primary ovarian failure - turner

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Lab findings with premature adrenarche

A

Elevated DHEA and DHEA-S

Low testosterone

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What is benign premature thelarche and what are they at increased risk for

A

Breast development before 4 yrs. it’s benign.

10% cases develop central precocious puberty. And increased risk for developing PCOS.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Define central precocious puberty

A

Secondary sexual characteristics in combination with acceleration in linear growth OR advanced bone age

Boys < 9
Girls < 8

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

How does androgen insensitivity present

A

Phenotypic female
Genetically male

End organ insensitivity to androgen so do not develop male genitalia.

They do make testosterone and mullirían inhibiting factor so the uterus and ovaries do not develop and they have a blind vaginal pouch.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Panhypopituitarism can be part of which syndromes

A

Prader willi
Kallman
Septo-optic dysphasia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Define panhypopituitaeism and how does it present

A

Deficit of all hormones from the pituitary gland (test all)

Micro penis and hypoglycemia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

How is androgen insensitivity inherited

A

X linked

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What is the result of 21 hydroxylase deficiency

A

Elevated 17 hydroxyprogesterone levels do it cannot convert to aldosterone or cortisol and these are low

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

How are newborns screened for CAH

A

17 hydroxyprogesterone assay

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What’s the next step is newborn screen positive for CAH

A

Repeat the testing - 17 hydroxyprogesterone assay

If positive check electrolytes and urinary sodium/potassium excretion

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

How is prenatal screening done for CAH

A

Molecular genetic testing of fetal cells

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Treatment for CAH

A

Hydrocortisone

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What are the findings with primary adrenal deficiency.

A

Adrenals stop functioning! autoimmune disorder that destroys the adrenal gland - leads to elevated ACTH from the pituitary.

Hyperpigmentation, hyponatremia, hyperkalemia, fatigue, weight loss

ACTH stimulates production of cortisol from the adrenals but this doesn’t happen when adrenals don’t work so it just accumulates

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Tx for primary adrenal deficiency

A

Fludrocietisone for mineralocirticoid replacement

Hydrocortisone for glucocorticoid replacement

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

How does secondary adrenal deficiency present

A

Muscle weakness, decreased cardiac function. Electrolyte are normal.

Pituitary is not making ACTH (low ACTH)

When the problem is in the pituitary gland they might describe midline defects such as cleft lip

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

What is Cushing syndrome

A

Excess glucocorticoid due to excessive production of corticotropin by the pituitary gland which leads to excess cortisol production by the adrenal gland

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

How does Cushing present

A

Increase bmi with growth arrest

(Gain in wt but not in ht)

And delayed bone age

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

What syndrome must you think of when you have an infant with Cushing syndrome

A

McCune Albright syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

Gold standard test to confirm hyoercortisolism

A

24 hr urinary free cortisol excretion

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

What is the peak growth velocity prior to puberty

A

5-6cm/yr

24
Q

Presentation of growth hormone deficiency

A

Micro penis, hypoglycemia, short stature. Bone age may be significantly delayed.

25
Q

What are syndromes that make one short

A

Turner

Achondroplasia (short stature is not proportionate)

Premature puberty

Hypothyroid (short and overweight)
— delayed bone age, cold intolerance, constipation, dry skin, myxedema

26
Q

How does Klinefelter syndrome present

A

47 XXY

Learning disability with normal intelligence, small testicles, tall.

May have gynecomastia

27
Q

How does Marfan syndrome present

A

Sudden death with tall stature

They have cardiac defect - aortic aneurysm

28
Q

How does sotos syndrome present

A

Large HC, tall, cognitive deficits

29
Q

What syndromes result in tall stature

A

Klinefelter
Marfan
Soto’s
High caloric intake

30
Q

Clues to growth hormone deficiency

A

Micro penis, hypoglycemia

**septo-optic dysphasia, breech presentation, prolonged jaundice

31
Q

What are the lab findings for thyroxine binding globulin deficiency

A

Low serum total T4 concentration

Normal free T4 and TSH

Euthyroid pt*

Do NOT need thyroid replacement therapy

32
Q

How do you tell the difference form hyperthyroid in graves vs hashimoto

A

Radioactive iodine uptake!

Elevated in graves and low to normal in hoshimoto

33
Q

Lab findings for neonatal thyrotoxicosis

A

Low TSH, high free T4

34
Q

Treatment for neonatal thyrotoxicosis

A

Methimazole until maternal antibodies have cleared

35
Q

What is the criteria for diagnosis of diabetes

A

HbA1c > 6.5% or

2 random glucose > 200 or

2 hr post glucose tolerance, glucose > 200 or

1 random glucose > 200 AND symptoms or

Fasting glucose > 126

36
Q

Health maintenance for a type 1 diabetic

A

Eye exam if older than 10yrs

Lipid levels starting at age 12yrs

37
Q

Define DKA

A

Glucose > 200
Venous pH < 7.3
Bicarb < 15

38
Q

Definition of metabolic syndrome

A

Hyperinsulinemia or insulin resistance

Dyslipidemia

Hypertension

Obesity

39
Q

What are the causes of hypercalcemia

A

Williams syndrome

Ingestion (vit d and a intoxication, thiazides)

Skeletal disorders (dysplasias, immobilization)

Hyperparathyroidism

(WISH bone)

40
Q

Hypecalcemia is when calcium is greater than

A

11

41
Q

Define hypocalcemia

A

Ionized calcium < 4.5

Total calcium < 8.5

42
Q

Symptoms of hypocalcemia

A

Painful muscle spasms (chvostek and trousseau sign)

Generalized seizure (especially one resistant to diazepam)

Vomiting

Prolongues QT

43
Q

What other electrolyte abnormality can you see with hypocalcemia

A

Hypomagnesemia

44
Q

What causes hypocalcemia

A

Pseudohypoparathyroidism (high PTH)

Nutritional deficiency

Immune deficiency (DiGeorge)

Nephrotic syndrome

Kidney insufficiency

45
Q

Buzz words for rickets

A

Bone pain, anorexia, decreased growth rate, widening of the wrist and knees, delayed eruption of teeth, bowed legs.

Enlarged costochindrial junction (rachitic rosary)
Softening of skull bones (craniotabes) - also delayed suture and Fontanel closure

46
Q

What lab abnormality do you get in all forms if rickets

A

Elevated alkaline phosphatase level

47
Q

Forms of calcioenic rickets

A

Vit d deficient

Vitamin d dependent type 1

Hereditary vitamin d resistant

(All have elevated PTH)

48
Q

Risk factors for vitamin d deficient rickets

A

Breastfeeding without vit d

Poor exposure to natural light

Low birth weight, prematurity or both

Infants on strict vegan diets which exclude dairy products (ex lactose intolerant as well)

49
Q

Lab findings in vit d deficient rickets

A

High PTH and alk phos

Low 25 hydroxy-d*
Normal 1-25

Calcium and phosphorus may be normal

50
Q

Rickets can occur along with what other disease

A

Liver dz

51
Q

How is vitamin d dependent rickets type 1 different than vit d deficient

A

Autosomal recessive

Due to inadequate renal production of 1-25 hydroxy-d because of 1 alpha hydroxylase deficiency

52
Q

Lab finding in vit d dependent ricket type 1

A

High PTH and alk phos

normal 25-hydroxy-d

Low 1-25 hydroxy-d

Low calcium
Low to normal phosphate

53
Q

Lab finding for hereditary vitamin d resistant ricket

A

High PTH and alk phos

Normal 25
1-25 hydroxy-d very high because it’s due to end organ resistance to vitamin d

Low calcium
Low to normal phosphate

54
Q

What is x linked hypophosphatemic rickets

A

Excessive phosphate loss through the kidneys due to a defect in tubular reabsorción of phosphate

55
Q

Lab finding for x linked hypophosphatemic rickets

A
High alk phos 
Normal PTH
Very low phosphate
Normal calcium
Normal vitamin d levels
56
Q

What is phosphotemic rickets due to renal disease

A

Defect in phosphate excretion

57
Q

Lab findings in rickets due to renal dz

A

High alk phos and PTH
High phosphate
Low calcium
Vitamin d levels (25 and 1-25) low