PRIMARY AND SECONDARY AMENORRHEA (based on PDF uploaded) Flashcards
What are the two criteria that define primary amenorrhea?
“Absence of menses by age 15 with normal secondary sexual characteristics or absence of secondary sexual characteristics by age 13.”
At what age is the absence of secondary sexual characteristics concerning for primary amenorrhea?
“Age 13.”
At what age is the absence of menstruation concerning for primary amenorrhea if secondary sexual characteristics are normal?
“Age 15.”
What syndrome is most commonly associated with gonadal dysgenesis causing primary amenorrhea?
“Turner syndrome (45 XO).”
What is the classic karyotype of Turner syndrome?
“45 XO.”
What physical features are seen in Turner syndrome?
“Short stature. webbed neck. shield chest. widely spaced nipples. lymphedema.”
Why does Turner syndrome cause primary amenorrhea?
“Due to streak ovaries and estrogen deficiency.”
What is the first investigation to perform for secondary amenorrhea?
“Pregnancy test.”
Name two hormonal tests ordered after a negative pregnancy test in secondary amenorrhea.
“TSH and prolactin levels.”
Which hormone level helps assess ovarian function in secondary amenorrhea?
“FSH.”
What does high FSH in secondary amenorrhea suggest?
“Primary ovarian failure.”
What does low FSH in secondary amenorrhea suggest?
“Central (hypothalamic or pituitary) dysfunction.”
What is an imperforate hymen?
“Congenital obstruction of the vaginal opening by an unperforated hymen.”
How does imperforate hymen present clinically?
“Primary amenorrhea with cyclic pelvic pain and bulging bluish vaginal mass.”
What imaging modality can confirm imperforate hymen?
“Pelvic ultrasound.”
What is the treatment of an imperforate hymen?
“Surgical incision of the hymen (hymenotomy).”
What is a transverse vaginal septum?
“Congenital membrane within the vagina obstructing menstrual flow.”
What are symptoms of transverse vaginal septum?
“Primary amenorrhea with cyclic pelvic pain and no visible outflow obstruction.”
How do you diagnose a transverse vaginal septum?
“MRI pelvis or ultrasound.”
What is the treatment for a transverse vaginal septum?
“Surgical excision of the septum.”
What syndrome causes absence of uterus with normal breasts and external female genitalia?
“Müllerian agenesis (Mayer-Rokitansky-Küster-Hauser syndrome).”
What is the karyotype in Müllerian agenesis?
“46 XX.”
Do patients with Müllerian agenesis have normal ovarian function?
“Yes. normal ovarian function and hormone levels.”
What is the difference in pubic hair between Müllerian agenesis and androgen insensitivity syndrome?
“Müllerian agenesis has normal pubic hair; androgen insensitivity syndrome has scant or absent pubic hair.”
What is the karyotype in androgen insensitivity syndrome?
“46 XY.”
Where are the gonads located in androgen insensitivity syndrome?
“Intra-abdominal or inguinal testes.”
What hormone causes breast development in androgen insensitivity syndrome?
“Peripheral conversion of testosterone to estrogen.”
What hormone level is elevated in androgen insensitivity syndrome?
“Testosterone.”
What test is used to differentiate hypoestrogenism vs outflow tract problem in secondary amenorrhea?
“Estrogen-progesterone challenge test.”
If withdrawal bleeding occurs after estrogen-progesterone challenge, what is the diagnosis?
“Hypoestrogenism.”
If no withdrawal bleeding occurs after estrogen-progesterone challenge, what is the diagnosis?
“Outflow tract problem.”
What are causes of hypothalamic amenorrhea?
“Stress. significant weight loss. excessive exercise.”
Name an endocrine disorder associated with elevated prolactin causing amenorrhea.
“Pituitary adenoma (prolactinoma).”
What hormone suppresses GnRH when prolactin is elevated?
“Dopamine inhibition is decreased. leading to GnRH suppression.”
What condition occurs after postpartum hemorrhage causing pituitary necrosis?
“Sheehan syndrome.”
What are symptoms of Sheehan syndrome?
“Failure to lactate. amenorrhea. fatigue.”
What is the most common cause of intrauterine adhesions?
“Asherman syndrome.”
What prior procedure increases risk for Asherman syndrome?
“Dilation and curettage (D&C).”
What test confirms diagnosis of Asherman syndrome?
“Hysteroscopy.”
What condition is associated with low TSH, high prolactin, and amenorrhea?
“Hypothyroidism causing hyperprolactinemia.”
How does PCOS affect the menstrual cycle?
“Causes oligomenorrhea or amenorrhea.”
What is the classic hormonal profile in PCOS?
“Elevated LH:FSH ratio. hyperandrogenism.”
What imaging finding is seen in PCOS?
“String of pearls appearance on ovarian ultrasound.”
What treatment is given for secondary amenorrhea due to PCOS?
“Weight loss. combined oral contraceptives or ovulation induction agents.”
Name two ovulation induction agents used in PCOS.
“Clomiphene citrate. letrozole.”
Which three components make up the female athlete triad?
“Disordered eating. amenorrhea. osteoporosis.”
In hyperprolactinemia, what is the first-line pharmacologic treatment?
“Dopamine agonists like bromocriptine or cabergoline.”
What is the next step if MRI confirms a macroadenoma causing hyperprolactinemia?
“Surgical resection (transsphenoidal surgery).”
What genetic disorder should be considered if primary amenorrhea with short stature and cardiac defects?
“Turner syndrome.”
What cardiac defects are associated with Turner syndrome?
“Coarctation of the aorta. bicuspid aortic valve.”
What autoimmune disease is Turner syndrome patients at increased risk for?
“Hypothyroidism (Hashimoto thyroiditis).”
