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Oral REI Boards > Pregnancy > Flashcards

Pregnancy Flashcards

1
Q

Risk of down syndrome by age at Delivery

A

Down at delivery: 35=1:350, 40=1:100, 45=1:30, 50=1:10

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2
Q

Quad screen testing

A

T21 (75%):
HCG/Inhibin ↑
uE3/MSAFP ↓

T18 (65%): HCG/uE3/MSAFP ↓
Inhibin N/A

ONTD (85%): ↑ MSAFP

Quad screen does not screen for T13

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3
Q

VTE risk in pregnancy

A

5-20/10,000 woman years

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4
Q

Molar pregnancy

A
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5
Q

What enzyme does fetus lack?

A

3 B OH dehydrogenase

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6
Q

What enzymes does placenta lack?

A

17a hydroxylase
17, 20 lyase
16a hydroxylase

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7
Q

Three levels of sexual differentiation

A

o 1- Chromosomal sex: XY, XX, XXY (Klinefelter’s), X0 (Turner’s), XXY
o 2- Gonadal sex: ovary/testes/gonad
o 3- Phenotypic sex: androgens/estrogens

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8
Q

Male development

A

+SRY SOX9 promotes Sertoli cells, desert hedghehog promotes leydig cells differentiation, T prodn drives male development, DHT: penile length, prostate

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9
Q

Female development

A

driven by absence of -AMH, also WNT4, RSPO1  B-catenin, HOX genes*

o DES alters HOX gene expression, is mechanism of T-shaped uterus, vaginal adenosis in affected females

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10
Q

HOX genes

A
  • HOXA9: fallopian tubes
  • HOXA10: uterus
  • HOXA11: Uterus and cervix
  • HOXA13: vagina
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11
Q

Virilized female infant

A

o CAH: 21-alpha hydroxylase, 11-beta hydroxylase (both have high DHEA, androstenedione), 3-beta HSD (mildly virilized, elevated DHEA)
o Maternal androgen prodn
 Luteoma (30% women virilized, of virilized moms 80% have virilized fetus)
 Sertoli-Leydig tumor (highest risk virilization)
 Placental aromatase deficiency (progressive virilzation of mother then baby)
 Drugs

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12
Q

When is uterine and vaginal development complete?

A

16 weeks

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13
Q

When does T production start

A

8 weeks
8-9 weeks regression of Mullerian ducts

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14
Q

when is male external genitalia complete?

A

9-14 weeks prostate and external genitalia developed under T and DHT influence

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15
Q

CAH and female genitalia

A

female external genital development not done until 20 weeks
elevated androgen levels between 10-12 weeks lead to clitoromegaly, labial fusion, and partial closure of the urethra

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16
Q

Dose of folic acid with history of NTD

A

4 mg

17
Q

Neonatal treatment of CAH

A

adrenal crisis is an emergency
hypotension, hyponatremia, hyperkalemia, hypoglycemia, n/v, weight loss, anorexia

Treatment: fluids (0.9%tes, NS 10-20 mL/kg)
electrolytes (correct electrolytes with long term NaCL)
Corticosteroids and mineralocorticoids

18
Q

P450 Oxidoreductase deficiency

A

AR caused by missense mutation
affects all P450 enzymes with variable phenotype

19
Q

Antley Bixler syndrome

A

craniosynostosis, midface hypoplasia, choanal atresia or stenosis, radiohumeral or radioulnar syntostosis, femoral bowing and fractures, and joint contractures

type of P450 oxidoreductase deficiency

20
Q

Hormone levels with P450 oxidoreductase deficiency

A

Basal/stimulated:
17 OHP: high, exaggerated
DHEA/S: low, low
Androstenedione: low, low
Cortisol: low, normal

21
Q

luteoma

A

hyperplastic masses of luteinized cells
average 6-10 cm, 1/2 are bilagteral
1/3 have maternal hirsutism/virilization
80% of infants with virilized mothers are also virilized
Regression after delivery, but maternal virilization may not regress

22
Q

Theca lutein cysts

A

type of functional cyst
10-15 cm
usually bilateral
regression post deliver
common in women with GTD, molar pregnancies, multiple gestation
mass effect, pain
fetus is NOT virilized

23
Q

Aromatase deficiency

A

fetal androgens are not converted to estrogens in the placenta causing low maternal estrogen

24
Q

Androgen insensitivity syndrome

A

X linked
Defective T receptor
Testes will develop normally but do not descend (found in inguinal canal)
without T response you get regression of wolffian ducts (internal male genitalia), but also AMH is present so you get regression of mullerian ducts

25
Q

What mediates abdominal transport of testes

A

AMH

26
Q

What mediates inguinal transport to scrotum

A

Testosterone

27
Q

Hormonal profile of AIS

A

High LH
normal to high T
high E (for men)

28
Q

management of intraabdominal gonads or streak gonads with Y chromosome

A

Remove
high risk of malignancy which increases at puberty
exception is AIS which you should leave until completion of puberty
gonadoblastoma and dysgerminoma
Generally risk is 5-10% and incidence increases after 25 yo

29
Q

5a reductase deficiency

A

AR
deficient DHT type II
genotype is XY and phenotype is XX to somewhat ambiguous
Pseudo female external genitalia (hypospadias, varying degrees of fusion of labioscrotal folds, urogenital opening) with separate vaginal and urethral openings

No mullerian ducts
present wolfian ducts and cryptorchidism
reared as females, but masculization occurs at puberty with less facial and body hair, less temporal balding, no acne

30
Q

Diagnosis of 5a reductase deficiency

A

elevated T: DHT radio
HCG stim test 1500 mIU on d1 and d3, measure T and DHT on 1, 3, and 6
this helps to distinguish between 5a reductase and defects in T synthesis and incomplete AIS

31
Q

Treatment of 5a reductase deficiency

A

gonadectomy before puberty to avoid neoplasia and virilization at puberty
versus early diagnosis could allow for correction of hypospadias, cryptorchidism for male rearing and fertility (+spermatogenesis)

32
Q

AMH or AMH R disorder

A

normal male with inguinal hernia with mullerian structures (hernia uterine inguinale syndrome)
45% caused by mutation in AMH gene and 39% in AMH-R gene

33
Q

Swyer syndrome

A

XY gonadal dysgenesis
no SRY
no AMH and no testosterone
have mullerian ducts and female external genitalia
but you do have streak gonads which should be removed
raised as female

34
Q

How can true hermaphroditism occur

A
  1. division of 1 ovum with fertilization of each haploid ovum and then fusion of the two zygotes early in development
  2. ovum fertilized by 2 sperm with trisomic rescue to form normal diploid complement
  3. 2 ova fertilized by 2 sperm (1 male and 1 female zygote) that fuse to form a tetragametic chimera
  4. mutation in SRY gene
35
Q

trisomic rescue

A

genetic phenomenon when fertilized ovum contains 3 copies of a chromosome and then loses one of these chromosomes to form a normal, diploid, chromosome complement

36
Q

evaluation of ambiguous genitalia

A

size of phallus (clitoris 2-6 mm is normal, 9 mm is clitoromegaly)
position of urethral meatus
palpation of gonads
fused or separated labio scrotal folds (fused scrotum, separated is labia)
hyperpigmentation could indicated increased ACTH and adrenal defect

Oral REI Boards (13 decks)

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