1- Menstrual Disorders Flashcards
What gives rise to male reproductive structures?
Wolffian ducts (Mullerian ducts regress)
What gives rise to female reproductive structures?
Mullerian ducts (Wolffian ducts become nonfunctional)
What hormone is responsible for breast development and growth of the skeleton in early puberty?
Estradiol
What leads to ovulation and menstrual cycle later in puberty?
FSH/ LH/ estradiol
What is the average age of menarche?
12-13 yrs
What is the average age of menopause?
51 yrs
How long is the average adult menstrual cycle?
24-38 days (1st day bleeding through next cycle of bleeding)
What is the duration of bleeding in a normal menstrual cycle?
≤ 8 days (average 4.5 days)
How much is blood lost in a normal menstrual cycle?
5-80mL
What is required for regular and spontaneous menstruation?
Functional HPO axis, competent endometrium (uterus) that responds to hormones stimulation, an intact outflow tract from internal to external genitalia
What is primary amenorrhea?
Failure to reach menarche
What is secondary amenorrhea?
Cessation of menses
How do you identify amenorrhea?
Absence of menses by age 15 w/ normal growth and secondary sex characteristics OR absence of menses by age 13 w/o secondary sexual development
What is secondary amenorrhea?
Cessation of menses
How do you idenitify secondary amenorrhea?
Absence of menses for more than 3 cycle intervals OR 6 consecuative months in women that were previously menstruating
Primary amenorrhea is usually due to genetic or anatomic abnormality, what is the most common cause?
Gonadal dysgenesis (others: PCOS, disruption of hypothalamic/ pituitary function, anatomic defects in outflow tract, receptor abnormality/ enzyme deficiency)
What does dysgenesis result in?
Hypergonadotrophic hypogonadism (high FSH)
In what condition are ovaries unable to respond to gonadotropins and has premature depletion of oocytes and follicles?
Turner Syndrome (45, XO)
What is one of the most common causes of premature ovarian insufficiency?
Turner Syndrome (45, XO)
In what condition is a fibrous streak gonad unable to secrete anti-Mullerian hormone/ T, and aka “vanishing testes”?
46, XY gonadal dysgenesis
Pt presents with short stature, shield chest and webbed neck. What would you expect to see on US of ovaries?
Streak ovaries (Turner syndrome)
What condition is defined as 46, XY gonadal dysgenesis, a mutation of the SRY gene, and leads to failure of indifferent gonads to differentiate into testes?
Swyer syndrome
What is the internal and external genitalia of a pt w/ swyer syndrome?
Female internal & external genitalia (due to lack of AMH, T and DHT)
Will pt w/ swyer syndrome develope secondary sex characteristics at puberty?
No
Is PCOS more common in primary or secondary ammenorrhea?
Secondary
In what condition does a pt have ovulatory dysfunction, anovulation and sxs of hyperandrogenism (acne, hisutism) in the presence of pubertal development?
PCOS (as a cause of primary amenorrhea)
HPO axis suppression due to an energy deficiency from stress, weight loss, excessive exercise or disordered eating will result in what?
Functional hypothalamic amenorrhea
What is the female athlete triad?
Insufficient calorie intake w/w/o eating d/o, amenorrhea, and low bone density/ osteoporosis
In pt w/ functional hypothalamic amenorrhea, what are their FSH, LH, and estradiol levels?
FSH = normal, LH = low, (LH surge is absent), Estradiol = low
What syndrome results from congenital GnRH deficiency?
Idiopathic hypogonadotropic hypogonadism
If a pt with idiopathic hypogonadotropic hypogonadism also has anosmia, what is it called?
Kallmann syndrome
What are the 2 more common pituitary causes of primary amenorrhea?
Micro/ macroadenoma and hyperprolactinemia
What is a common sx of hyperprolactinemia?
Glactorrhea
A less common pituitary cause of primary amenorrhea is infiltrative disease and/ or cranial tumors that cause what?
Pituitary stalk compression
What uterine outflow tract disorder can cause primary amenorrhea?
Mullerian agenesis
In Mullerian agenesis (46 XX), there is a congenital absence of what?
Oviducts, uterus, upper vagina
What vaginal outflow tract disorders can cause primary amenorrhea?
Imperforate hymen or transverse vaginal septum
Pt presents with cyclic pelvic pain. a perirectal mass, and hx of amenorrhea. What should you be concerned about?
Vaginal outflow tract disorder (imperforate hymen or transverse vaginal septum)
Mullerian agenesis (46 XX), do you have normal gonadal function?
Yes (estrogen = breast development)
Although rare, what are the 3 receptor/ enzyme abnormality causes of primary amenorrhea?
Androgen Insensitivity Syndrome (AIS), 5-alpha reductase deficiency, and 17-alpha-hydroxylase deficiency (CYP17 gene)
F pt presents w/ “testicular feminization”. What is her genotype and T levels?
46 XY, high serum testosterone (AIS)
If a pt with AIS has testes that remain intra-abdominal or partially descended, what is the management?
Should be removed due to increased risk of testicular CA
Pt presents with breast development, absence of acne/ voice changes at puberty, absent axillary/ pubic hair. On pelvic US you note absent upper vagina, uterus and fallopian tubes. What are you concerned for?
Androgen Insensitivity Syndrome (AIS) (possible cause of primary amenorrhea)
In a pt w/ AIS, what hormones are produced and what hormones is the body unresponsive to?
Testes make T and AMH, but are unresponsive to T or DHT
Baby is born w/ amgiuous genitalia. What enzyme deficiency are you concerned about?
5-alpha reductase deficiency (46, XY)
In pt undergoing puberty w/ 5-alpha reductase deficiency what will not occur?
No enlargement of external genitalia or prostate
Pt presents with HTN and lack of pubertal development. Labs show decreased cortisol levels, lack of sex steroids, and high ACTH. What should you be concerned for?
17-alpha-hydroxylase deficiency (CYP17 gene) (possible cause of primary amenorrhea)
Pt with amenorrhea presents with breast development, and a uterus is present. What is a possible cause?
Outflow tract obstruction
Pt with amenorrhea presents with breast development and a uterus is NOT present. What are possible causes?
AIS (46, XY) OR Mullerian agenesis (46, XX)
Pt with amenorrhea presents with NO breast development and normal/ low FSH (indicating hypogonadotropic hypogonadism). What are possible causes?
Kallman Syndrome OR Functional hypothalamic amenorrhea
Pt with amenorrhea presents with NO breast development and high FSH (indicating hypergonadotropic hypogonadism). What are possible causes?
Turner syndrome, Swyer syndrome (46, XY gonadal dysgenesis), OR primary ovarian insufficiency
What is the most common cause of secondary amenorrhea?
Pregnancy!
F pt w/ prior hx of menstruation presents w/ amenorrhea, acne and hirsutism. Labs find elevated total T. What are you concerned about?
PCOS
On US of ovaries you see “string of pearls”. What is this concerning for?
Polycystic ovaries
PCOS is usually associated w/ what hormone resistance?
Insulin
What is primary ovarian insufficiency?
Depletion of oocytes before age of 40 (clinical menopause)
Hyperandrogenism, due to adrenal or ovarian tumors, will result in what in a F?
Pronounced virilization (male like characteristics)
What are the most common hypothalamic and pituitary causes of secondary amenorrhea?
Functional hypothalamic amenorrhea and pituitary disease
What are the most common causes of pituitary disease leading to secondary amenorrhea?
Hyperprolactinemia, Sheehan syndrome, iron deposition, primary hypothyroidism
Hypopituitarism caused by ischemic necrosis due to severe hemorrhage and hypotension during/ after childbirth is known as what?
Sheehan syndrome (possible cause of secondary amenorrhea)
How is Asherman syndrome acquired?
Scarring of the endometrial lining caused by uterine instrumentation duing OBGYN procedures
Pt presents with secondary amenorrhea. Pregnancy test is negative. Hx of weight loss, stenuous exercise, or eating disorder. What are you concerned for?
Hypothalamic dysfunction
Pt presents with secondary amenorrhea. Pregnancy test is negative. Hx of uterine surgical procedure or infection. What are you concerned for?
Asherman syndrome
Pt presents with secondary amenorrhea. Pregnancy test is negative. Hx of HA and visual changes. What are you concerned for?
Infiltrating pituitary disease/ tumor
Pt presents with secondary amenorrhea. Pregnancy test is negative. Hx of galactorrhea. What are you concerned for?
Sheehan syndrome
Pt presents with secondary amenorrhea. Pregnancy test is negative. Hx of worsening acne, hirsutism, and weight gain. What are you concerned for?
PCOS or hypothyroidism
Pt presents with secondary amenorrhea. Pregnancy test is negative. Hx of recent or recurrent medication use (oral contraceptives, progestins, danezol, antipsychotics). What are you concerned for?
Post pill amenorrhea/ amenorrhea due to DA or GnRH antagonists
Pt presents with secondary amenorrhea. Pregnancy test is negative. Hx of other illness (renal failure, CA, infection, RA). What are you concerned for?
Amenorrhea due to systemic illness
By what age should you evaluate for primary amenorrhea if uterine bleeding has not occurred?
Age 15
By what age should you evaluate for primary amenorrhea if no menses or evidence of thelarche (breast development)?
Age 13
What should you evaluate for if pt presents w/ no menarche w/i 3 yrs of thelarche?
Primary ammenorrhea
What is the general order of sexual development for F?
Thelarche, pubarche, growth spurt, menarche (thelarche and menarche should occur w/in 3 years of each other)
When evaluating for primary ammenorhea what are important history questions to ask?
Other stages of puberty? Age of menarche in mother/sisters? Height relative to family members?
What sxs can be presents in both primary and secondary amenorrhea?
Glactorrhea, anosmia
When evaluating for secondary ammenorhea what are important history questions to ask?
Previous mentrual hx? Breastfeeding? Recent d/c of OCP? Uterine OBGYN procedures? Sx of estrogen deficiency?
Pt presents with amenorrhea. What are the most important vital signs to assess given the CC?
Weight, height, BMI
What general things should be assessed on PE for a pt presenting with amenorrhea?
Signs of virilization, thyroid abns, features of Turner syndrome, breast exam, genital exam
Pt presents with amenorrhea. What lab tests/ diagnostic studies should be ordered? (Both primary and secondary)
Urine/ serum HCG, FSH, TSH, prolactin, +/- pelvic US
Aside from pregnancy test, FSH, TSH and prolactin, additional studies for eval of primary amenorrhea should be ordered based on what?
Signs/ sxs, PE findings and results of initial workup
What imaging should be ordered if you suspect a pituitary pathology of secondary amenorrhea?
Pituitary MRI
What imaging should be ordered if you are evaluating a pt with secondary amenorrhea and there is evidence of significant virilization and elevated T?
Adrenal CT
Pt presents with primary amenorrhea. PE shows NO breast development and labs show low/ N FSH. Repeat FSH/LH are very low. What pathology should you consider?
Congenital GnRH deficiency or constitutional delay of puberty (“late bloomer”)
Pt presents with secondary amenorrhea and pituitary MRI shows a lesion. What is the next step?
Refer to endo
Pt presents with secondary amenorrhea, normal prolactin and there is no evidence of a lesion on pituitary MRI. What is the next step?
Transferrin saturation (hemochromatosis screen) and progesterone challenge
Pt presents with secondary amenorrhea, normal prolactin and there is no evidence of a lesion on pituitary MRI. Progesterone challenge results in NO withdrawal bleed. What should you be concerned for?
Functional hypothalamic amenorrhea (no estrogen, low FSH)
Pt presents with secondary amenorrhea, normal prolactin and there is no evidence of a lesion on pituitary MRI. Progesterone challenge results in + withdrawal bleed. What should you be concerned for?
Eval for PCOS (unopposed estrogen, high LH to FSH ratio)
What is the goal of tx for amenorrhea?
TX underlying cause, restore ovulatory cycles and preserve fertility, reduce risk of complciations
What are complications associated w/ amenorrhea?
Osteoporosis, chronic anovulation, hirsutism, insulin reisistance, dysplipidemia
When is surgical referral necessary for amenorrhea sx?
For correction of outlet obstruction or for gonadectomy
Breast development is a marker for what?
Ovarian function (except w/ AIS)
Absense of the uterus should be further investigated w/ what tests?
Karyotype and total testosterone
If pt w/ amenorrhea presents w/ breast development what is the most likely cause of their sx?
Uterus or vagina
If pt w/ amenorrhea presents w/o breast development what is the most likely cause of their sx?
Hypothalamus or ovaries
