Random Repro Facts

Question 1

Genotype of Kleinfelter’s

Answer 1

XXY or XXXY (basically a male XY w an extra X)

Question 2

Genotype of Turner’s

Answer 2

45 XO

Question 3

Genotype of pure gonadal dysgenesis

Answer 3

46 XY or XX- normal sex hormone karyotype form of gonadal dysgenesis

Question 4

Meckel-Gruber syndrome

Answer 4

Congenital malformation syndrome
-mutation in basal body protein involved in cilia function

-microcephaly, occipital encephalocele, cleft lip, polydactyly, cystic kidneys

Question 5

Williams syndrome

Answer 5

Malformation association type of syndrome

-elastin gene deletion, but also has cocktail party personality and mental retardation due to other gene deletions

Question 6

Why can it be hard to treat epilepsy during pregnancy?

Answer 6

B/c the drugs used (Dilantin, Valproate) cause birth defects, but are needed to control disease in the mother. So usually just give the mother as low a dose as possible for as long as you can during pregnancy and hope the child is born w/o defects (since risk is doubled from normal, but not definite)

Question 7

What is the most common teratogen?

Answer 7

Alcohol

Question 8

Are cigarettes a teratogen?

Answer 8

No b/c not shown to affect development

Question 9

What happens to the risk of Turner Syndrome w/ increasing maternal age?

Answer 9

Nothing, Turners (45, X) is not associated w/ maternal age even tho 2/3 of cases occur in the oocyte

Question 10

High AFP levels during pregnancy indicates what?

Answer 10

Neural tube defect, or something causing increased AFP (major fetal protein) to spill into amniotic fluid

Question 11

On what day does the endometrium accept the fertilized ovum?

Answer 11

Day 22

-correlates w/ peak in progesterone

Question 12

Describe the glandular structure of the secretory endometrium

Answer 12

Highly organized

-glands lined up evenly spaced and parallel to each other while perpendicular to the surface

Question 13

What percent of the fully thickness endometrium is the stratum basalis?

Answer 13

Lower 1/3 is the regenerative stratum basalis while the upper 2/3 is the sheded stratum functionalis

Question 14

Describe cytologically what you see in the proliferative phase of the menstrual cycle

Answer 14

Mitotic figures in both the granulosa and stromal cells b/c endometrium is undergoing hyperplasia and hypertrophy

Question 15

Differentiate granulosa and luteal cells

Answer 15

The same cells just at different stages of differentiation. Granulosa cells are surrounding the ovum pre-ovulation and are secreting estrogen, then post-ovulation these same cells differentiate into luteal cells and make progesterone

Question 16

What is the prevalence of abnormal TSH or prolactin levels in women w/ secondary amenorrhea

Answer 16

About 5% of adult women w/ secondary amenorrhea will have abnormal TSH or prolactin

Question 17

What is the most common cause of primary amenorrhea?

Answer 17

50% of primary amenorrhea caused by chromosomal abnormalities (causing gonadal dysgenesis)

Question 18

Second most common cause of primary amenorrhea (behind chromosomal abnormality)

Answer 18

Mullerian agenesis = missing the upper 2/4 of the vagina and uterus
-so normal ovaries are secreting estrogen but no bleeding b/c of agenesis

Question 19

Turner’s syndrome

(a) histological finding of gonads
(b) neck appearance
(c) abnormal aorta
(d) estrogen level
(e) FSH/LH levels
(f) karyotype

Answer 19

Turner’s

(a) streak gonads
(b) webbed neck
(c) coarctation of aorta
(d) estrogen low b/c w/o second X chromosome you can’t properly develop ovaries
(e) FSH/LH high b/c no estrogen to feedback
(f) Karyotype: 50% XO

Question 20

What is the most common cause of secondary amenorrhea?

Answer 20

Poly-cystic ovaries

Question 21

How is prolactin secretion affected by

(a) dopamine
(b) TSH

Answer 21

(a) Dopamine inhibits prolactin secretion

(b) TSH stimulates prolactin secretion

Question 22

What is the most common endocrine problem in women of reproductive age?

Answer 22

PCOS = polycystic ovary syndrome

Question 23

Average age of menopause in the US

Answer 23

51 yoa

Question 24

Age where considered POI

Answer 24

Premature ovarian insufficiency when amenorrhea/menopause before age 40

Question 25

What are the guidelines for when women should start getting mammograms?

Answer 25

Start at age 40, or 10 years before the index case if there is a family history

Question 26

What is the most common benign tumor of the female breast?

Answer 26

Fibroadenoma

Question 27

Why does fertility decrease w/ age?

Answer 27

B/c of meoisis, chromosomes, and aneuploidy!!!!

If you implant an euploid embryo, decrease chance of miscarriage

Question 28

What is the most common cause of miscarriage?

Answer 28

Trisomy 16

Question 29

On what day do you implant an IVF zygote back into the mother?

Answer 29

Day 5- blastocyst stage

Question 30

Besides reduced miscarriage, what was a benefit of frozen-thawed embryo transfer?

Answer 30

Reduced rate of ectopic pregnancy

Question 31

What congenital motor disorder do twins have an increased risk of?

Answer 31

Twins have an increased risk of cerebral palsey- triplets have an even higher risk