Random Repro Facts Flashcards
Genotype of Kleinfelter’s
XXY or XXXY (basically a male XY w an extra X)
Genotype of Turner’s
45 XO
Genotype of pure gonadal dysgenesis
46 XY or XX- normal sex hormone karyotype form of gonadal dysgenesis
Meckel-Gruber syndrome
Congenital malformation syndrome
-mutation in basal body protein involved in cilia function
-microcephaly, occipital encephalocele, cleft lip, polydactyly, cystic kidneys
Williams syndrome
Malformation association type of syndrome
-elastin gene deletion, but also has cocktail party personality and mental retardation due to other gene deletions
Why can it be hard to treat epilepsy during pregnancy?
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)
What is the most common teratogen?
Alcohol
Are cigarettes a teratogen?
No b/c not shown to affect development
What happens to the risk of Turner Syndrome w/ increasing maternal age?
Nothing, Turners (45, X) is not associated w/ maternal age even tho 2/3 of cases occur in the oocyte
High AFP levels during pregnancy indicates what?
Neural tube defect, or something causing increased AFP (major fetal protein) to spill into amniotic fluid
On what day does the endometrium accept the fertilized ovum?
Day 22
-correlates w/ peak in progesterone
Describe the glandular structure of the secretory endometrium
Highly organized
-glands lined up evenly spaced and parallel to each other while perpendicular to the surface
What percent of the fully thickness endometrium is the stratum basalis?
Lower 1/3 is the regenerative stratum basalis while the upper 2/3 is the sheded stratum functionalis
Describe cytologically what you see in the proliferative phase of the menstrual cycle
Mitotic figures in both the granulosa and stromal cells b/c endometrium is undergoing hyperplasia and hypertrophy
Differentiate granulosa and luteal cells
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
What is the prevalence of abnormal TSH or prolactin levels in women w/ secondary amenorrhea
About 5% of adult women w/ secondary amenorrhea will have abnormal TSH or prolactin
What is the most common cause of primary amenorrhea?
50% of primary amenorrhea caused by chromosomal abnormalities (causing gonadal dysgenesis)
Second most common cause of primary amenorrhea (behind chromosomal abnormality)
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
Turner’s syndrome
(a) histological finding of gonads
(b) neck appearance
(c) abnormal aorta
(d) estrogen level
(e) FSH/LH levels
(f) karyotype
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
What is the most common cause of secondary amenorrhea?
Poly-cystic ovaries
How is prolactin secretion affected by
(a) dopamine
(b) TSH
(a) Dopamine inhibits prolactin secretion
(b) TSH stimulates prolactin secretion
What is the most common endocrine problem in women of reproductive age?
PCOS = polycystic ovary syndrome
Average age of menopause in the US
51 yoa
Age where considered POI
Premature ovarian insufficiency when amenorrhea/menopause before age 40
