Exam 1 Menstrual Disorders (Part 1) Flashcards
During sexual development, which ducts give rise to the male internal genitalia?
Wolffian ducts
During sexual development, which ducts give rise to the female internal genitalia?
Mullerian ducts
What male hormone causes the Mullerian ducts to regress during sexual development?
Anti-mullerian hormone (AMH)
What causes the Wolfiian ducts to regress during female sexual development?
Absence of testis determining factor (SRY gene from Y chromosome)
Early in normal female puberty, what hormone is released from the hypothalamus to stimulate FSH/LH release from the anterior pituitary?
Pulsatile GnRH
What hormone does FSH/LH stimulate the ovaries to produce, and what does this hormone promote?
Estradiol –> breast development and growth of skeleton
What does FSH/LH lead to later in female puberty?
Ovulation and menstrual cycles
How long is the average adult menstrual cycle?
24-38 days
What is the typical duration of bleeding during menses?
8 days or less
What does regular and spontaneous menstruation require (3)?
- Functional HPO axis
- An endometrium competent to respond to steroid hormone stimulation
- Intact outflow tract from internal to external genitalia
What is primary amenorrhea?
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
What is secondary amenorrhea?
Cessation of menses:
- Absence of menses for more than 3 cycle OR 6 consecutive months in women who were previously menstruating
What is the most common cause of primary amenorrhea?
Ovarian dysfunction (gonadal dysgenesis)
What is gonadal dysgenesis and what does it results in?
- Abnormal genital development
- Results in “hypergonadotropic hypogonadism” and high FSH
What are two examples of gonadal dysgenesis?
- Turner Syndrome (46, XO): ovaries unable to respond to gonadotropins
- Swyer Syndrome (46, XY): “vanishing testes”; fibrous streak gonad cannot secrete AMH or testosterone
What does Turner Syndrome result in and what are some characteristics of this disorder?
Results in premature depletion of occytes and follicles
Short stature, “shield chest” with widely spaced nipples, webbed neck, “streak ovaries”
What is the cause of 46, XY gonadal dysgenesis (Swyer Syndrome) and what are some characteristics of this disorder?
- 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
What is the etiology behind PCOS and what are symptoms associated with it?
Ovulatory dysfunction; anovulation
Symptoms of hyperandrogenism (acne, hirsutism) in the presence of pubertal development
What is the etiology behind functional hypothalamic amenorrhea?
- 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
What is the classic example of functional hypothalamic amenorrhea?
Female athlete triad
What is the etiology behind idiopathic hypogonadotropic hypogonadism?
- Congenital GnRH deficiency
- Referred to “Kallmann” syndrome if associated with anosmia
What are the two common pituitary causes of primary amenorrhea?
- Micro/macroadenomas
- Hyperprolactinemia
How does hyperprolactinemia cause amenorrhea?
What will be present with hyperprolactinemia?
Prolactin inhibits secretion and effect of gonadotropins
Galactorrhea present
What are two outflow tract disorders that contribute to primary amenorrhea, and what is the etiology behind them?
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
What is Androgen Insensitivity Syndrome?
- 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)
How does one present with Androgen Insensitivity Syndrome?
- 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)
What procedure needs to be performed in an individual with Androgen Insensitivity Syndrome?
Testes remain intra-abdominal or partially descended and need to be removed due to increased risk of testicular cancer
What does 5-alpha-reductase deficiency cause?
- Primary amenorrhea
- 46, XY unable to convert testosterone to DHT –> no differentiation of male genitalia during fetal development = ambiguous genitalia at birth
What does 17-alpha-hydroxylase deficiency cause?
- Decreased cortisol synthesis and lack of sex steroids
- High ACTH –> overproduction of aldosterone
- Phenotypic female (or male) with HTN and lack of pubertal developement
What is the #1 cause of secondary amenorrhea?
Pregnancy
What is the most common cause of secondary amenorrhea due to ovarian dysfunction?
PCOS
“String of pearls” is seen on ultrasound. What disorder is this finding associated with?
PCOS
Define Primary Ovarian Insufficiency.
- Depletion of oocytes before age 40; clinical menopause
What can hyperandrogenism be from if not from PCOS?
Adrenal or ovarian tumors that secrete androgens
What are some pituitary causes of secondary amenorrhea?
- Hyperprolactinemia
- Sheehan syndrome
- Iron deposition (due to hemochromatosis)
- Primary hypothyroidism
What is Ashermann Syndrome and what is it caused by?
Acquired scarring of the endometrial lining, causing by uterine instrumentation during OB/GYN procedures
When should you initiate evaluation for primary amenorrhea?
- 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
What is the general order of female sexual development?
Thelarche (breast), pubarche (pubic/axillary hair), growth spurt, then menarche (menses)
What should the initial workup for amenorrhea include?
- Urine or serum HCG (always start with this)
- FSH
- TSH
- Prolcatin
- (+/-) Pelvis Ultrasound
