Exam 1 Menstrual Disorders (Part 1) Flashcards

1
Q

During sexual development, which ducts give rise to the male internal genitalia?

A

Wolffian ducts

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2
Q

During sexual development, which ducts give rise to the female internal genitalia?

A

Mullerian ducts

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3
Q

What male hormone causes the Mullerian ducts to regress during sexual development?

A

Anti-mullerian hormone (AMH)

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4
Q

What causes the Wolfiian ducts to regress during female sexual development?

A

Absence of testis determining factor (SRY gene from Y chromosome)

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5
Q

Early in normal female puberty, what hormone is released from the hypothalamus to stimulate FSH/LH release from the anterior pituitary?

A

Pulsatile GnRH

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6
Q

What hormone does FSH/LH stimulate the ovaries to produce, and what does this hormone promote?

A

Estradiol –> breast development and growth of skeleton

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7
Q

What does FSH/LH lead to later in female puberty?

A

Ovulation and menstrual cycles

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8
Q

How long is the average adult menstrual cycle?

A

24-38 days

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9
Q

What is the typical duration of bleeding during menses?

A

8 days or less

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10
Q

What does regular and spontaneous menstruation require (3)?

A
  • Functional HPO axis
  • An endometrium competent to respond to steroid hormone stimulation
  • Intact outflow tract from internal to external genitalia
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11
Q

What is primary amenorrhea?

A

Failure to reach menarche:
- Absence of menses by age 15 with normal growth and secondary sexual characteristics
OR
- Absence of menses by age 13 without secondary sexual development

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12
Q

What is secondary amenorrhea?

A

Cessation of menses:

- Absence of menses for more than 3 cycle OR 6 consecutive months in women who were previously menstruating

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13
Q

What is the most common cause of primary amenorrhea?

A

Ovarian dysfunction (gonadal dysgenesis)

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14
Q

What is gonadal dysgenesis and what does it results in?

A
  • Abnormal genital development

- Results in “hypergonadotropic hypogonadism” and high FSH

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15
Q

What are two examples of gonadal dysgenesis?

A
  • Turner Syndrome (46, XO): ovaries unable to respond to gonadotropins
  • Swyer Syndrome (46, XY): “vanishing testes”; fibrous streak gonad cannot secrete AMH or testosterone
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16
Q

What does Turner Syndrome result in and what are some characteristics of this disorder?

A

Results in premature depletion of occytes and follicles

Short stature, “shield chest” with widely spaced nipples, webbed neck, “streak ovaries”

17
Q

What is the cause of 46, XY gonadal dysgenesis (Swyer Syndrome) and what are some characteristics of this disorder?

A
  • Mutation of SRY gene
  • Indifferent gonads fail to differentiate into testes
  • Lack of AMH, testosterone, and DHT result in female internal and external genitalia even though male genotype
  • Secondary male sex characteristics do not develop
18
Q

What is the etiology behind PCOS and what are symptoms associated with it?

A

Ovulatory dysfunction; anovulation

Symptoms of hyperandrogenism (acne, hirsutism) in the presence of pubertal development

19
Q

What is the etiology behind functional hypothalamic amenorrhea?

A
  • HPO axis is suppressed due to energy deficit stemming from stress, weight loss, excessive exercise or disordered eating
  • Abnormal GnRH secretion –> absent follicular development and ovulation; low estradiol secretion
20
Q

What is the classic example of functional hypothalamic amenorrhea?

A

Female athlete triad

21
Q

What is the etiology behind idiopathic hypogonadotropic hypogonadism?

A
  • Congenital GnRH deficiency

- Referred to “Kallmann” syndrome if associated with anosmia

22
Q

What are the two common pituitary causes of primary amenorrhea?

A
  • Micro/macroadenomas

- Hyperprolactinemia

23
Q

How does hyperprolactinemia cause amenorrhea?

What will be present with hyperprolactinemia?

A

Prolactin inhibits secretion and effect of gonadotropins

Galactorrhea present

24
Q

What are two outflow tract disorders that contribute to primary amenorrhea, and what is the etiology behind them?

A

Mullerian agenesis:

  • 46, XX with congenital absence of the oviducts, uterus, and upper vagina.
  • Normal gonadal function, so have breast development but no menses as no uterus or full vaginal canal

Imperforate hymen or transverse vaginal septum

25
Q

What is Androgen Insensitivity Syndrome?

A
  • Cause of primary amenorrhea
  • 46, XY with female phenotype and high testosterone (“Testicular Feminization”)
  • Complete or partial androgen receptor insensitivity (make testosterone, but body not responsive)
26
Q

How does one present with Androgen Insensitivity Syndrome?

A
  • Breast development, absence of acne/voice changes at puberty, and absent/sparse axillary/pubic hair
  • Absent upper vagina, uterus and fallopian tubes on pelvic ultrasound (as still had AMH as a fetus)
27
Q

What procedure needs to be performed in an individual with Androgen Insensitivity Syndrome?

A

Testes remain intra-abdominal or partially descended and need to be removed due to increased risk of testicular cancer

28
Q

What does 5-alpha-reductase deficiency cause?

A
  • Primary amenorrhea
  • 46, XY unable to convert testosterone to DHT –> no differentiation of male genitalia during fetal development = ambiguous genitalia at birth
29
Q

What does 17-alpha-hydroxylase deficiency cause?

A
  • Decreased cortisol synthesis and lack of sex steroids
  • High ACTH –> overproduction of aldosterone
  • Phenotypic female (or male) with HTN and lack of pubertal developement
30
Q

What is the #1 cause of secondary amenorrhea?

A

Pregnancy

31
Q

What is the most common cause of secondary amenorrhea due to ovarian dysfunction?

A

PCOS

32
Q

“String of pearls” is seen on ultrasound. What disorder is this finding associated with?

A

PCOS

33
Q

Define Primary Ovarian Insufficiency.

A
  • Depletion of oocytes before age 40; clinical menopause
34
Q

What can hyperandrogenism be from if not from PCOS?

A

Adrenal or ovarian tumors that secrete androgens

35
Q

What are some pituitary causes of secondary amenorrhea?

A
  • Hyperprolactinemia
  • Sheehan syndrome
  • Iron deposition (due to hemochromatosis)
  • Primary hypothyroidism
36
Q

What is Ashermann Syndrome and what is it caused by?

A

Acquired scarring of the endometrial lining, causing by uterine instrumentation during OB/GYN procedures

37
Q

When should you initiate evaluation for primary amenorrhea?

A
  • Age 15 if not uterine bleeding has occurred
  • Age 13 if no menses and no evidence of thelarche
  • If no menarche within 3 years of thelarche
38
Q

What is the general order of female sexual development?

A

Thelarche (breast), pubarche (pubic/axillary hair), growth spurt, then menarche (menses)

39
Q

What should the initial workup for amenorrhea include?

A
  • Urine or serum HCG (always start with this)
  • FSH
  • TSH
  • Prolcatin
  • (+/-) Pelvis Ultrasound