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Oral board studying Prep book > Office-Reproductive endocrinology > Flashcards

Office-Reproductive endocrinology Flashcards

1
Q

What is the most common cause of ambiguous genitalia?

A

Congenital adrenal hyperplasia

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2
Q

What is the most common cause of congenital adrenal hyperplasia?

A

21 hydroxylase deficiency

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3
Q

What is the pathophysiology behind congenital adrenal hyperplasia?

A

There is a deficiency of the enzyme 21 hydroxylase which blocks the production of cortisol. Since cortisol is not produced it cannot in turn provide negative feedback to switch off ACTH. This backs up the steroidogenesis pathway leading to more production of androgens

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4
Q

How does congenital adrenal hyperplasia affect the newborn?

A
  1. Ambiguous genitalia
  2. Shock due to lack of cortisol
  3. Salt wasting due to lack of aldosterone
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5
Q

What is the chronological order for puberty?

A
  1. Growth spurt
  2. Breast
  3. Pubarche
  4. Adrenarche
  5. Menarche
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6
Q

How long does it take for cycles to become regular after menarche?

A

Up to 6 years

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7
Q

When can you expect menarche?

A

2-3 years after breast budding

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8
Q

When should you evaluate amenorrhea in a adolescent?

A
  1. Amenorrhea with no secondary sexual development by age 13
  2. Amenorrhea with hirsutism at age 14
  3. Amenorrhea at age 15
  4. > 90 days without menses in a menstruating adolescent
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9
Q

When do you see precocious puberty?

A

Age 7 in white girls
Age 6 in black girls

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10
Q

What is precocious puberty?

A

Puberty that happens early

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11
Q

What is the lifecycle of a hair follicle?

A

Anagen- growth phase
Catagen- transition phase
Telogen- resting phase

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12
Q

What is the differential for hirsutism?

A
  1. PCOS
  2. CAH
  3. Tumor (ovary, adrenal)
  4. Drugs (androgens, danazol)
  5. Familial
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13
Q

How do you workup hirsutism?

A

17OHP
Total testosterone
DHEAS

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14
Q

What is the treatment for hirsutism?

A

OCP
Spironolactone
Finasteride
Flutamide
Eflornithine
Cosmetic depilation

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15
Q

What is the definition of primary amenorrhea?

A
  1. No menses by age 13 in absence of secondary sexual characteristics
  2. Delayed puberty
  3. No menses by age 15 or 4 years after onset of puberty
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16
Q

How do you classify the causes of primary amenorrhea?

A

Divide into the presence or absence of breast and uterus

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17
Q

What is the potential causes of amenorrhea if uterus and breast are present?

A

Presence of breast means estrogen is present and the cause of amenorrhea is secondary

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18
Q

What are secondary causes of amenorrhea?

A

Hypothalamic causes
Pituitary causes
Ovarian causes
Uterine causes

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19
Q

What is the potential causes of amenorrhea if uterus is present but breast is absent?

A

Absent breast mean absent estrogen
Primary amenorrhea

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20
Q

What are causes of primary amenorrhea with uterus present and breast absent?

A

Gonadal failure - Hypergonadotropic hypogonadism

CNS-hypothalamic-pituitary: hypogonadtropic hypogonadism

21
Q

What are causes of primary amenorrhea with uterus absent and breast present?

A
  1. Uterovaginal agenesis (Mullerian agenesis)
    - normal pubic hair
  2. Androgen insensitivity
    - sparse pubic hair
22
Q

What are causes of primary amenorrhea with uterus absent and breast absent?

A
  1. 17,20 desmolase deficiency
  2. Agonadism
  3. 17 alpha hydroxylase deficiency
23
Q

What is the definition of secondary amenorrhea?

A

No menses x 6 months or 3 missed cycles

24
Q

What are causes of secondary amenorrhea?

A
  1. Pregnancy
  2. Hypothyroidism
  3. Hyperthyroidism
  4. PCOS
  5. CAH
  6. Stress or exercise
  7. Weight loss/anorexia
  8. medications
  9. Premature ovarian failure
  10. Androgen secreting tumors
  11. ACTH/GH secreting tumors
  12. Hypothalamic lesions
  13. Asherman syndrome
25
Q

How do you start evaluation of primary amenorrhea?

A
  1. Exclude pregnancy
  2. History
  3. Physical exam
  4. Lab workup
26
Q

What is important on medical history for evaluation of primary amenorrhea?

A

Stress
Nutritional factors
Symptoms of hypo estrogen

27
Q

What is important of physical exam for evaluation of primary amenorrhea?

A

Determine if there is a normal vagina and cervix.

28
Q

If there is a short or blind vagina on physical exam in evaluation of primary amenorrhea what should you think of?

A
  1. Mullerian agenesis
  2. Androgen insensitivity
  3. Total testosterone an karyotype
  4. Vaginal agenesis/atresia
  5. Vaginal septum
  6. Cervical atresia
29
Q

If there is a normal vagina and cervix on physical exam in evaluation of primary amenorrhea what should you do?

A

Lab workup
1. TSH/Prolactin
2. FSH and estradiol
3. Progesterone withdrawal challenge

30
Q

What are the concepts of progesterone withdrawal challenge?

A

Helps to determine if the issue is progesterone from anovulation or estrogen deficiency or uterine outflow obstruction.

Patient is given a 10 day course of progesterone

If positive bleed and normal labs= anovulation

If no bleed and normal labs= Go to E+P challenge

31
Q

What is an estrogen + progesterone challenge?

A

Patient did not have a withdrawal bleed from progesterone challenge

Give conjugated estrogen 1.25mg x 14 days then estrogen + progesterone x 10 days

If positive bleed= not making enough estrogen

If negative bleed= abnormal outflow tract (Asherman, anomaly)

32
Q

What are normal levels for FSH/LH?

A

FSH= 5-30
LH= 5-20

33
Q

What are high FSH/LH levels?

A

FSH= >30
LH=>20

34
Q

What are low FSH/LH levels?

A

FSH=<5
LH=<5

35
Q

What does a high FSH/LH level correspond to?

A

Primary ovarian insufficiency

36
Q

What does a low FSH/LH level correspond to?

A

Hypothalamic/pituitary issues

37
Q

What is considered a low estradiol level?

A

<50pg/ml

38
Q

How do you diagnose primary ovarian insufficiency?

A
  1. Two random tests at least one month apart of FSH/LH and estradiol levels,
  2. Negative pregnancy test
  3. Normal prolactin and thyroid test
39
Q

What is primary ovarian insufficiency?

A

Cessation of menses by age 40

40
Q

What are the mullerian ducts?

A

Embryonic structures that develop into the female genital tract

Uterus, vagina, Fallopian tubes

41
Q

What is mullerian agenesis?

A

Failure of development of the uterus, Fallopian tubes or vagina

Can have a partial or absent vagina
Can have a partial or absent uterus
Can have absent Fallopian tubes

42
Q

What is another name for mullerian agenesis?

A

Mayer-Rokitansky-Kuster Hauser syndrome

43
Q

What is androgen insensitivity syndrome?

A

Genetic male (XY) who is resistent to male hormones and therefore is genetic male but phenotypically female

44
Q

What causes androgen insensitivity syndrome?

A

Defects on the X chromosome making it unable to respond to male hormone androgens

45
Q

What do you have to worry about with androgen insensitivity syndrome?

A

Testicles need to be removed after puberty take place because of increase risk of cancer

46
Q

What is 17,20 desmolase deficiency?

A

Genetic disorder that causes lack of production of estrogens and androgens leading to genetically male with male testes but female external genitalia or genetically female with ovaries and external male genitalia

47
Q

What is 17 hydroxylase syndrome?

A

Genetic condition that causes decreased production of cortisol and sex steroids and increased production of mineralcorticoids

48
Q

How does 17 hydroxylase syndrome present ?

A

Ambiguous genitalia in men
Nonfunctional ovaries in females
Hypokalemic hypertension
Low cortisol

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