Repro path 2

Question 1

Androgen insensitivity syndrome (46 XY)

Answer 1

Defect in androgen receptor:

1) Normal appearing female;
2) Female external genitalia with rudimentary vagina
3) Uterus and fallopian tube generally absent;
4) Scant sexual hair
5) develop testes (found in majora, remove to prevent malignancy)

Question 2

Androgen insensitivity syndrome (46 XY): lab

Answer 2

High testosterone
High estrogen
High LH (vs. sex chromosome disorders)

Question 3

5 alpha reductase deficiency

Answer 3

AR; sex limited to genetic males

1) inability to convert testosterone to DHT
2) ambiguous genitalia until puberty when testosterone causes masculinzation in growth of external genitalia
3) normal internal genitalia

Question 4

5 alpha reductase deficiency: lab

Answer 4

Testosterone/estrogen levels normal

LH normal or elevated

Question 5

Kallmann syndrome

Answer 5

Defective maturation of GnRH cells and formation of olfactory bulb

1) low synthesis of GnRH in hypothalamus
2) anosmia
3) lack of 2’ sexual characteristics

Question 6

Kallmann syndrome: lab

Answer 6

Low GnRH
Low FSH
Low LH
Low testosterone
Low sperm count

Question 7

Hydatidiform mole

Answer 7

Cystic swelling of chorionic villi and proliferation of chorininc epithelium (trophoblasts)

1) presents with abnormal vaginal bleeding
2) cluster of grapes appearance.
3) honeycombed uterus
4) abnormally enlarged uterus
5) snowstorm apperance with no fetus during 1st sonogram

Question 8

Hydatidiform mole: complication, lab, treatment

Answer 8

1) precursor of choriocarcinoma
2) uterine rupture

Elevated bhCG

Treat: dilation, curretage, MTX, monitor bHCG

Question 9

Hydatidiform mole: complete

Answer 9

Karyotype: 46 XX, 46 XY
hCG: HIGHLY ELEVATED
uterine size: large
choriocarcinoma: 2%
fetal parts: no
components: 2 sperm and empty egg
risk of complication: 15-20% malignant trophoblastic dz

Question 10

Hydatidiform mole: partial

Answer 10

Karyotype: 69XXX, XXY or XYY
hCG: elevated (vs. complete)
uterine size: large
choriocarcinoma: RARE (vs. complete)
fetal parts: Yes (Partial =fetal PART)
components: 2 sperm and 1 egg
risk of complication: <5% malignant trophoblastic dz