Infertility Flashcards
How often is no cause found with RPL?
50-70%
Risk of pregnancy loss with GS?
12%
Risk of pregnancy loss with YS?
8%
Risk of loss with FP?
1-7%
Risk of loss with FHR?
3-5% if no loss
15-25% if RPL
Testing POC and 46 XX? Next steps?
Should do reflex DNA extraction and analysis of maternal blood by
microsatellite analysis can differentiate maternal contamination from fetal source
NCCAH and trying to conceive
GC (prednisone 2.5-5 mg qD> hydrocortisone 20 -25 mg/day) recommended as initial
therapy. Metabolized by placental 11BHSD Type 2
If no response, can add OI agent or increase to 7.5 mg/d
Majority not infertile.
Increased SAB risk (25-30%), reduced to 6% w/ tx
Don’t need to tx men unless oligospermia: can do dex 0.25 mg qD or prednisone 5 mg
Overnight DEX suppression test
Dex is potent GC and should suppress ACTH/cortisol if no Cushing
**Best first test when Cushing suspected in patient with hirsutism
Give Dex 1 mg PO 11p-12a
Measure cortisol 8 am
if <1.8 ug/dL then negative
Patients must not be taking estrogen or OCPs: increased CBG causes false positive
If initial screening is normal but strong clinical suspicion, repeat 6 mo or sooner if sx worsening
If first test abnormal, perform 2nddifferent test
If transsphenoidal surgery for Cushings, post op monitoring:
ree T4/PRL w/in 1-2 weeks post op to evaluate for panhypopituitarism
Elevated prolactin: 50-100
oligomenorrhea or amenorrhea
Elevated prolactin 20-50 ng/dL
short luteal phase from poor preovulatory follicular
development
Elevated prolactin > 100
frank hypogonadism w/ low E2 levels (osteoporosis, GU atrophy)
Rule out macroprolactin?
larger forms cleared more slowly, women have normal
mns, pretx serum w/ polyethylene glycol to precipitate macroprolactin to avoid expensive imaging
Primary amenorrhea
No mns by 15 w/ secondary sex characteristics
W/in 5 yrs after thelarche if before age 10
No thelarche by age 13
Spermatogenesis
MEN 1
MEN 2
Spermiogenesis
process by which haploid round spermatids complete an extraordinary series of events to become streamlined spermatozoa capable of motilit
What are males with Kleinfelters at risk for?
osteoporosis, DM, low muscle mass, thromboembolic events, male breast cancer
What percentage of men with NOA have abnormal karyotype?
10-15%
What percentage of men with oligospermia have abnormal karyotype?
5% versus only 1% with normal sperm count
Average testicle volume
15-25 cc
Semen fructose testing
The procedure for determining the amount of fructose in semen involves heating semen in a strong acid in the presence of resorcinol. Fructose gives a red color (Selivonoff reaction) and may be read in a photometer. The normal average is 315mg/dL fructose.
When to repeat SA if abnormal and suspect due to acute illness
4 weeks
2h OGTT how is it done
75mg, draw blood 2x (after 2hrs normal <140mg/dL, impaired
glucose tolerance 140-199, DM >200). prev of impaired glucose tolerance 35%, DM 10%) screen q3-5yrs.
How do OCPs decrease androgen symptoms
- The P component suppress LH secretion and lead to a decrease in ovarian androgen production.
- The estrogenic component increases the levels of sex hormone–binding globulin (SHBG), which, in turn, results in a decrease in circulating free T levels. The E also potentiates P receptors (P is always the dominant hormone)
- progestin in the pill can compete for 5a-reductase at the level of the androgen receptor.
- decreases adrenal androgen production by a mechanism yet unclear, possibly due to a decrease in adrenocorticotropin hormone (ACTH) production.
Glucose/insulin ratio
lower values depicting higher degrees of insulin resistance. A G/I ratio of less than 4.5 has been shown to be sensitive (95 percent) and specific (84 percent) for insulin resistance in a group of women with PCOS, when compared to a control group.
Labs in anorexia
Decreased FSH, LH, E2, IGF1
Increased cortisol, rT3
Same: prolactin, TSH, T4
Ideal body weight
Females: IBW (kg) = 45.5 kg + 2.3 kg for each inch over 5 feet.
CCCT
Clomiphene Citrate Challenge test: baseline FSH/E2 then 100 mg x 100 and repeat FSH/E2 on CD 10
Patients are notified of test results by their coordinator or physician:
A level from 10-12.5 mIU/mL predicts resistance to fertility medications and a diminished prognosis.
At 12.5-15 mIU/mL, the prognosis is poor but pregnancies do occur with aggressive treatment.
Levels greater than 15 mIU/mL indicate that infertility treatment with the patient’s own eggs is not likely to succeed and that egg donation should be offered.
Side effects of dopamine agonists
nausea, postural hypotension, mental fogginess
Congenital lipoid adrenal hyperplasia
most fatal form of CAH, as it disrupts adrenal and gonadal steroidogenesis. Most cases of lipoid CAH are caused by recessive mutations in the gene encoding steroidogenic acute regulatory protein (StAR). Affected patients typically present with signs of severe adrenal failure in early infancy and 46,XY genetic males are phenotypic females due to disrupted testicular androgen secretion.
Anorexia
Restriction of energy intake relative to requirements leading to a significantly low body weight in the context of age, sex, developmental trajectory, and physical health.
Intense fear of gaining weight or becoming fat, even though underweight.
Disturbance in the way in which one’s body weight or shape is experienced, undue influence of body weight or shape on self-evaluation, or denial of the seriousness of the current low body weight.
Even if all the DSM-5 criteria for anorexia are not met, a serious eating disorder can still be present. Atypical anorexia includes those individuals who meet the criteria for anorexia but who are not underweight despite significant weight loss. Research studies have not found a difference in the medical and psychological impacts of anorexia and atypical anorexia.
Fragile X
X linked disorder caused by expansion of a repeated trinucleotide segment of DNA, cytosine–guanine–guanine that leads to altered transcription of the fragile X gene FMR1. The large number of repeats in a full mutation allele causes the FMR1 gene to become methylated and inactivated.
The number of cytosine–guanine–guanine repeats varies among individuals and has been classified into four groups depending on the repeat size: 1) unaffected (5–44 repeats), 2) intermediate (45–54 repeats), 3) premutation (55–200 repeats), and 4) full mutation (greater than 200 repeats)
Fragile X in men
Most common inherited form of intellectual disability, autism, ADHD
Most affected males have significant intellectual disability.
Long, narrow face and prominent ears, enlarged testicles (macroorchidism), joint and skin laxity, hypotonia, mitral valve prolapse, delay in speech, and delay in gross and fine motor skills. The abnormal facial features are subtle in infancy and become more noticeable with age, making phenotypic diagnosis difficult, especially in the newborn.
Affected females may have a milder phenotype, and it is sometimes hard to establish the diagnosis based on clinical findings alone.
Clomid MOA
CC causes depletion of hypothalamic estrogen receptors leading to increased GnRH secretion, thereby increasing pituitary gonadotropin release and ovarian activity [2]. Though high ovulation rate (60–90%) make it an attractive therapy, the pregnancy rate of 10 to 20% [3] is disappointing. Sub-optimal pregnancy rates with CC have been attributed to its peripheral anti-estrogenic effects, mainly on the endometrium and the cervical mucus [4] or its interference with the functioning of the corpus luteum
Risk for ovarian infertility
6 Gy
Lynch syndrome
60% endometrial cancer risk
24% ovarian cancer risk
What percentage of cancer survivors have premature menopause?
10%
