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Questions and Answers
What defines primary amenorrhea?
Which of the following conditions is classified as ovarian dysfunction causing primary amenorrhea?
What is considered heavy menstrual bleeding?
Which type of amenorrhea occurs in women who have previously menstruated?
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Which of the following can be a cause of dysfunctional uterine bleeding (DUB)?
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What is the term for menstrual cycles that have intervals greater than 35 days?
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Which of the following scenarios indicates absence of menstruation by the age of 15?
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What physiological issue might contribute to functional hypothalamic amenorrhea?
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What is the pathophysiological abnormality primarily associated with Turner Syndrome?
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Which hormonal condition is associated with Androgen Insensitivity Syndrome?
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What is the most common structural cause of primary amenorrhea linked to Mullerian anomalies?
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In Turner Syndrome, what typically replaces the ovaries?
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What laboratory tests are indicated if a patient presents with primary amenorrhea and an absent uterus?
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Which of the following is a common consequence of functional hypothalamic amenorrhea?
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What distinguishes the clinical presentation of Complete Androgen Insensitivity from Turner Syndrome?
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Which management is typically indicated for individuals with Turner Syndrome to address estrogen deficiency?
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What is the most common cause of secondary amenorrhea?
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Which statement is true regarding the ovarian function in Androgen Insensitivity Syndrome?
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Study Notes
Defining “Abnormal” Menstrual Bleeding
- Primary amenorrhea: lack of menstruation by age 15
- Secondary amenorrhea: absence of menstruation for 3 months or more in a woman who previously had regular cycles
- Oligomenorrhea: Cycles that are greater than 35 days apart
- Polymenorrhea: Cycles that are less than 24 days apart
- Menorrhagia: Blood loss greater than 80 ml (~3 ounces)
- Abnormal Uterine Bleeding: Any uterine bleeding that strays from the normal ranges
- Dysfunctional uterine bleeding (DUB): Abnormal bleeding not caused by an anatomical abnormality; usually caused by anovulation
Common Causes of Primary Amenorrhea
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Gonadal Dysgenesis/ Turner’s Syndrome (43%):
- Ovarian cause due to lack of normal ovarian tissue
- Absence of endometrial stimulation is the direct reason for amenorrhea, leading to no lining to shed
- Ovaries are replaced by fibrous tissue (“streak gonads”)
- Little or no estrogen production
- Elevated FSH levels similar to menopause
- Normal uterus and vagina are typically present
- Pregnancy is possible with a donated egg and IVF
-
Mullerian Dysgenesis/ Agenesis incl.R-K-H Syndrome (15%):
- Uterine/Vaginal cause due to absent or malformed uterus and fallopian tubes
- Often presents with cyclic pelvic pain and possible pelvic mass if functional endometrium is still present
- A pelvic ultrasound or MRI can confirm the diagnosis
-
Physiologic Delay (Constitutional delay)(14%):
- Hypothalamic cause due to a delay in the onset of puberty
-
Polycystic Ovarian Syndrome (7%):
- Ovarian cause due to hormonal imbalances and multiple cysts on the ovaries
-
Functional hypothalamic amenorrhea (2-3%):
- Hypothalamic cause due to inadequate stimulation or suppression of the hypothalamic-pituitary-ovarian (HPO) axis
- Often associated with anorexia nervosa, low body weight, low body fat, excessive exercise, emotional stress, and acute severe illness
- Can lead to a significant risk of osteoporosis due to low estrogen levels
-
Outflow tract obstruction incl.transverse vaginal septum:
- Uterine/Vaginal cause due to a physical blockage preventing menstrual flow
-
Hypopituitarism of any cause:
- Pituitary cause due to dysfunction of the pituitary gland
-
Hypogonadotropic hypogonadism (Kallman syndrome):
- Hypothalamic cause due to genetic disorders affecting the development of the hypothalamus
Androgen Insensitivity Syndrome (AIS)
- Occurs when an XY fetus has testes and produces testosterone, but lacks testosterone receptors
- Testes still produce MIS preventing the development of Mullerian structures (uterus, tubes, upper vagina)
- Testes still produce testosterone, some of which is aromatized into estrogens
- Absence of testosterone receptors results in typical female-bodied external genitalia, breast development, and a partial vagina
- Due to the aromatization of testosterone into estrogens, estrogen receptors bind to these estrogens, leading to breast tissue and other secondary sexual characteristics (labial growth and hair)
Transverse Vaginal Septum and Imperforate Hymen
-
Transverse vaginal septum:
- Occurs due to abnormal apoptosis of the vaginal plate
- Can occur at multiple levels, often involving both Mullerian and Urogenital tissues
- Can lead to the buildup of old menstrual blood that has no external site of exit (hematocolpos)
- ** Imperforate Hymen**:
- Absence of appropriate apoptosis of the cells of the hymenal membrane
- More common than Mullerian abnormalities
- Can be partial or complete
Primary Amenorrhea Diagnosis Labs
- If uterus and vagina are present:
- B-HCG, FSH, karyotype if FSH is elevated, TSH, prolactin
- If the uterus is absent:
- Karyotype, serum testosterone
The most common cause of secondary amenorrhea is PREGNANCY
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Description
This quiz explores the definitions and causes of abnormal menstrual bleeding, including primary and secondary amenorrhea, oligomenorrhea, and menorrhagia. Gain insights into the various types and underlying issues affecting menstrual health.