T/F: Amenorrhea during pregnancy is pathologic, indicative of ovarian failure
False; it is physiologic during pregnancy and lactation
Absence of spontaneous menses during reproductive years is known as ______
Amenorrhea
What defines primary amenorrhea?
No menses by age 13 or 14 in the absence of secondary sexual development
Or no menses by age 15 or 16 regardless of secondary sexual characteristics
What is the most common cause of primary amenorrhea
Turner Syndrome which leads to Gonadal failure
How is secondary amenorrhea defined?
Lack of menses for 6 months or 3 cycles after establishing regular menses (in the absence of pregnancy, lactation, cyclic suppression by contraceptives or menopause)
What is the most common cause of secondary amenorrhea?
pregnancy
In non-pregnant women, secondary amenorrhea causes include:
Ovarian
Hypothalamic
Pituitary
Uterine
T/F: Turner syndrome is the most common cause of secondary amenorrhea in non-pregnant people
False; turner syndrome is the most common cause of primary amenorrhea. Secondary amenorrhea in non-pregnant causes include ovarian, hypothalamic, pituitary and uterine causes
What are the imagining techniques used to evaluate for amenorrhea?
Ultrasound (cheapest)
MRI
HSG (hysterosalpingogram)
IVP (intravenous pyelography)
What is an HSG?
Hysterosalpingogram, an x ray procedure used to see whether the fallopian tubes are patent and if the inside of the uterus is normal
Which imagining modality is used to see whether the fallopian tubes are patent and if the uterine cavity is normal?
HSG- hysterosalpingogram
What is the first lab you would order to evaluate for amenorrhea (what would you want to rule out first)?
Pregnancy test
First and foremost, r/o pregnancy
Ovarian failure is suspected when there is _____ level of FSH and LH, and this is when you would do a karyotype to look for ______
Elevated
Tuner Syndrome
Which hormone could allow you to determined if there is hypogonadotropic or hypergonadotropic hypogonadism?
FSH
Why is there elevated levels of FSH when there is gonadal failure?
High levels of FSH because the hypothalamus and pituitary are trying to get the ovaries to produce estrogen but ovaries is burnt so won’t budge
This is hypergonadotropic hypogonadism
What is the clinical presentation when there is gonadal failure?
Typically there is no breast development
What does low levels of FSH tell you in a patient that experiences amenorrhea?
Problem lies at the level of the hypothalamus or pituitary
Still no breast development but FSH is normal
What is missing in Turnery syndrome?
Ovarian determinant genes results in premature loss of germ cells
No estrogen or progesterone produced at puberty
Defining characteristics of Turner syndrome:
Short stature
Shield shaped thorax
Widely spaced nipples
Fold of skin
Elbow deformity
Gonadal streak
T/F: Pure gonadal dysgenesis occur in females with 45XO genotypes, and result in short stature women with infantile internal and external female genitalia
False; 45XO is turner syndrome and results in short stature women with premature loss of germ cells. Pure gonadal dysgenesis is 46XX or 46XY individuals with abnormal development of the gonads that leads, in women leads to normal stature with infantile internal and external female genitalia
Pure gonadal dysgenesis would result in ___ level of FSH, and on ultrasound their ovaries would be _____.
Elevated
Undetectable ovaries
What is Swyer Syndrome?
46XY pure gonadal dysgenesis
Associated with mutation in the SRY gene
What is the physical characteristic of an individual with 46XY Swyer Syndrome?
Phenotypic female but genetically male
No testes formation, no testosterone
Normal Mullerian organs
46 XY Swyer Syndrome would have _____ FSH and LH levels, and estrogen is _______
Elevated
Not produced, so no breast development
T/F: in Swyer syndrome, streak gonads must be removed at the time of diagnosis otherwise malignant transformation can occur at any age
True
Describe GnRH, FSH, LH and estrogen hormone level changes in HPA dysfunction:
Hypothalamic GnRH secretion is affected, reduced pulsatile secretion of GnRH
FSH, LH and estrogen will subsequently reduce levels too
Kallmann syndrome Is an example of _______ hypogonadism
Hypogonadotropic
What is the Kallmann Syndrome triad?
Deficiency of GnRH
Anosmia
Amenorrhea
Is function of the ovaries intact in individuals with Kallmann syndrome?
Yes, ovaries are normal. Kallmann is a deficiency of GnRH
CNS tumors such as _____, ______ and ______ are examples of ____ hypogonadism
Craniopharyngiomas
Adenomas
Meningiomas
Hypogonadotropic
How does craniopharyngiomas lead to decreased GnRH amongst other hormones?
The tumor compresses portal vessels lead to impede flow of GnRH
Pituitary causes contributes to ____ amenorrhea, and the most common cause of pituitary dysfunction is _____
Primary
Prolactinoma (hyperprolactinemia)
Inadequate caloric and fat intake would likely lead to _______ amenorrhea
Constitutional delay is a _____ cause of primary amenorrhea
Pituitary dysfunction
Primary amenorrhea due to an anatomic cause would have _____ breast development
Normal
As opposed to other primary amenorrhea causes (gonadal failure and HPA dysfunction), would result in no breast development
Mullerian duct is aka ______ which develops into ______ internal structures
Paramesonephric
Female
Mullerian Agenesis presents as _____ amenorrhea due to lack of ______ development. With fully developed secondary sexual characteristics (functional ovaries)
Primary
Uterine
Fusion failure of urogenital sinus and Mullerian Ducts is _____
Transverse vaginal septum
Transverse vaginal septum would result in what phenotypic defect?
shortened vagina
How would you treat a transverse vagina septum?
Hysteroscopic resection
Imperforate hymen is an ____ cause of primary amenorrhea, and this usually presents with _______
Anatomic
Presents with cyclic abdominal and pelvic pain with lower abdominal swelling, as well as hematocolpos (blood behind membrane)
What is Congenital androgen insensitivity syndrome (CAIS)?
What is the difference between CAIS and Swyer syndrome, given that both are 46XY, genetically male, phenotypically female individuals?
CAIS has a mutation in androgen receptor, they still have testes that make androgen, just not receptors to respond to those androgen leading to failure of male sexual differentiation
Vs in swyer, there is no testes and therefore no testosterone production
T/F: like turner syndrome, CAIS result in short stature females
False; unlike turner, CAIS “girls” are taller than other girls
Which condition would have genetically male with female appearance with testes in abdomen and no uterus?
Congenital androgen insensitivity syndrome
Is there breast development in individuals with CAIS?
yes there is
But limited pubic, axillary and upper lip hair
In CAIS, there would be ____ level of FSH, and ____ level of LH and ____ level of testosterone and ____ level of estradiol
Normal FSH
Mild elevated LH
Normal testosterone
Mid elevated estradiol
T/F: MRI is a good, safe, cost-effective first imagining test for evaluation of amenorrhea due to low radiation exposure
False; MRI is never cost effective unless you’re Trump. Ultrasound is the good, safe, cost-effective first choice
In progestin challenge (progesterone withdrawal test), if bleeding results, would suggest _____
Anovulation
T/F: in progestin and estrogen challenge, if bleeding results it rules out abnormalities of outflow, which suggests lack of hormone to build endometrium
True
What does it mean if there is no bleeding after progesterone withdrawal? (progestin challenge)
That amenorrhea is likely due to:
low serum estradiol
hypothalamic- pituitary dysfunction
nonreactive endometrium
problem with the uterine outflow tract
You want to distinguish the cause of a no bleeding progestin challenge by administering estrogen followed by a course of progestin in order to induce withdrawal bleeding, and that resulted in bleed, what does this tell you?
That the amenorrhea is likely due to low estrogen
What is the FSH and LH level in menopause?
Persistent increase of FSH, LH
What is the most common cause of hyperandrogenic chronic anovulation?
Polycystic ovary syndrome
What is the leading cause of subfertility in women?
PCOS
PCOS is an example of _____ amenorrhea
Secondary
Anorexia, malnutrition and excessive exercise, CNS tumors and Sheehan syndrome are examples of _____ hypogonadism
Hypogonadotropic
Low body fat and increased stress would have what effect to menstruation?
Menstrual suppression due to decreased gonadotropins and leptin
What is the female athlete triad?
Excessive exercise
Amenorrhea
Osteoporosis
T/F: critical body fat level must be present for reproductive system to function normally
True
Menopause, primary ovarian insufficiency are examples of _______ hypogonadism
Hypergonadotropic
What is Asherman syndrome?
Endometrial destructions leading to adhesions
(a secondary amenorrhea cause)
How to manage asherman syndrome?
Lysis of adhesions
Prevent recurrence
Pain management NSAIDs
Postoperative
Cervical stenosis is a _____ amenorrhea due to _____
