Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

STEP 1 (1) > Repro-Pathology > Flashcards

Repro-Pathology Flashcards

1
Q

A person with a karyotpe of XXY would have what disease?

A

Klinefelter, and they would be a MALE

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What are the signs of klinefelter disease?

A
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

The presence of an inactivated X chromosome in Klinefelter is known as what?

A

a Barr Body

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

How would hormone levels in a Klinefleter pt. look?

A

FSH would be elevated due to dysgenesis of seminiferous tubules causing a decreased release of inhibin B and

estrogen would be elevated due to abnromal leydig cell function causing decreased testosterone levels, leading to release of negative feedback on LH, and thus increased estrogen production

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What is Turner syndrome?

A

These are XO females that present with short stature, shield chests, and webbing of the neck

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

How are the ovaries affected by Turner syndrome?

A

Ovarian dysgenesis leads to streak ovary appearance and infertility

This is the most common cause of primary amenorrhea

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

How can the heart be affected by Turner Syndrome?

A

There might be characteristic bicupsid aortic valves

NOTE: preductal coarctation of the aorta may also occur (causing the femoral pulse to be higher than the brachial pulse)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

What causes the webbing of the neck seen in Turner syndrome?

A

Defects in the lymphatic system leads to webbing of the neck (cystic hygroma), as well as lymphedema in the feet and hands

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

How might the kidneys look in a pt. with Turner Syndrome?

A

horseshoe kidney

Little girls love horses

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

How would hormone levels look in a Turner pt.?

A

The lack of estrogen due to ovarian dysgenesis would spike LH and FSH levels

Pregnancy may be possible via IVF

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

How would Double Y males present?

A

Think Dylan Klebold- phenotypically normal, very tall, severe acne, learning disability and potentially autism

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

How is fertility affected by XYY status?

A

It is normal

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What would your diagnosis be if a child presented at birth with ambiguous genitalia and labs showed elevated testosterone, estrogen, and LH?

A

defective androgen receptor

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What would be the karyotype of androgen deficiency syndrome? Labs?

A

Still normal 46,XY

Labs: Testosterone, estrogen, AND LH

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

How would a pt. with an androgen receptor deficiency present?

A

They would be genotypic males but the lack of androgen receptors would result in a normal-appearing female with female external genitalia and a rudimentary vagina.
These pts. typically lack a uterus or fallopian tubes due to male status (and presence of AMH during gestation) as well as a lack or scant sexual hair.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

T or F. Pts with androgen deficiency syndrome have normal functioning testes

A

T. But they are not externally visible and are typically found within the labia majora and must be removed to prevent malignancy.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

What is pseudohermaphroditism?

A

Disagreement between the phenotypic (external genitalia) and gonadal (testes vs ovaries) sex

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

How does female pseudohermaphroditism present?

A

XX genotype marked by the presence of ovaries, but virilized or ambiguous external genitalia due to excessive and inappropriate exposure to androgenic steroids during early gestation (e.g. CAH or exogenous admin of androgens during pregnancy)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

How does male pseudohermaphroditism present?

A

XY genotype with testes present, but ambiguous or female external genitalia. Most commonly due to androgen insensitivity syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

What is true hermaphroditism?

A

Either 46, XX or 47, XXY genotype marked by the presence of BOTH ovary and testicular tissue (ovotestis) and ambiguous genitalia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

What is the MOI of a 5a-reductase deficiency?

Labs?

A

AR. Limited to genetic males (46, XY)

Labs: testosterone and estrogen may be normal, and LH may be normal or elevated

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

How would a 5a-reductase deficiency present?

A

failure to convert testosterone into DHT would result in ambiguous genitalia until puberty when testosterone increases resulting in masculinization and growth of the external genitalia (Hueve a doce)

Note that internal genitalia are normal male from birth (dont rely on DHT)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

What is Kallmann syndrome?

A

Failure to complete puberty. Defective migration of GnRH cells and formation of the olfactory bulb during gestation leading to decreased synthesis of GnRH in the hypothalamus, anosmia (lack of smell), and lack of secondary sexual characteristics

This would be a cause of hypogonadtropic hypogonadism

The condition can occur in both males and females but is more commonly diagnosed in males. Left untreated, patients with Kallmann syndrome will almost invariably be infertile.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

What labs would be suggestive of Kallman Syndrome?

A

decreased GnRH, FSH, LH testosterone, and sperm counts

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

What is a Hydatidiform mole?

A

Cystic swelling of chorionic villi and proliferation of chorionic epithelium (only trophoblasts) that presents with abnormal vaginal bleeding and uterine enlargement more than expected and pelvic pressure/pain

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

How would a Hydatidiform mole present in labs?

A

increased B-hCG (may be associated with preecampsia before 20 weeks, hyperthyroidism, and theca-lutein cysts)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

Hydatidiform mole is the most common precursor of what?

A

choriocarcinoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

What is a molar pregnancy?

A

Molar pregnancy is an abnormal form of pregnancy in which a non-viable fertilized egg implants in the uterus and will fail to come to term. A molar pregnancy is a gestational trophoblastic disease which grows into a mass in the uterus that has swollen chorionic villi. These villi grow in clusters that resemble grapes. A molar pregnancy can develop when a fertilized egg does not contain an original maternal nucleus. The products of conception may or may not contain fetal tissue. It is characterized by the presence of a hydatidiform mole (or hydatid mole, mola hydatidosa). Molar pregnancies are categorized as partial moles or complete moles, with the word mole, being used to denote simply a clump of growing tissue, or a growth.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

What is this?

A

Hydatidiform mole

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

What is the difference between a complete and a partial mole?

A

A complete mole is caused by a single (incidence is about 90%) or two (incidence is about 10%) sperm combining with an egg which has lost its DNA (the sperm then reduplicates forming a “complete” 46 chromosome set). The genotype is typically 46,XX (diploid) due to subsequent mitosis of the fertilizing sperm, but can also be 46,XY (diploid). 46,YY (diploid) is not observed.

In contrast, a partial mole occurs when a haploid egg is fertilized by two sperm or by one sperm which reduplicates itself yielding the genotypes of 69,XXY (triploid) or 92,XXXY (tetraploid).

Complete hydatidiform moles have 2.5% risk of developing into choriocarcinoma.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

What is this?

A

Hydatidiform mole, characteristically described as a ‘honeycombed’ uterus or ‘cluster of grapes’ appearance in an abnormally enlarged uterus

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

Complete moles classically have a _______ appearanc with not fetus during the 1st sonogram

A

snowstorm

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

What would be the karyotype of a complete mole?

A

46,XX or 46, XY

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

hCG levels would be MUCH higher in which type of mole?

A

complete mole, although partial would still have slightly increased hCG levels

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

T or F. The uterine size in increased in both complete and partial mole formation

A

F. Only complete

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

How often do complete moles transform into choriocarcinomas? Partial?

A

Complete moles transform about 2% of the time while it is very rare for a partial mole to transform

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q

What are the components of a complete mole? Partial?

A

Complete- 2 sperm + an empty (DNA wise) egg

Partial- 2 sperm + 1 egg

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
38
Q

How would a hydatidiform mole be treated?

A

dilation, curettage, and methotrexate

39
Q

What is eclampsia?

A

the diagnosis of preeclampsia (aka pregnancy associated HTN- 140/90 after 20th weeks gestation) AND maternal seizures

40
Q

What is preeclampsia marked by clinically?

A

HTN, proteinuria, and edema

41
Q

What are the potential complications of pre-eclampsia?

A

placental abrutpion, coagulopathy, renal failure, eclampsia

42
Q

What is the tx of pre-eclampsia?

A

anti-HTNives, IV magnesium sulfate (to prevent seizure) and eventually early delivery of the fetus

43
Q

The presence of HTN before 20 weeks gestation suggests what?

A

a molar pregnancy

44
Q

Preeclampsia has an increased prevelance in what populations?

A

Women with preexisting HTN, diabetes, chronic renal disease, and autoimmune disorders

45
Q

What causes pre-eclampsia?

A

Placental ischemia due to impaired vasodilation of spiral arteries leading to increased vascular tone.

46
Q

Eclampsia can be associated with HELLP syndrome. What is this?

A

Hemolysis

Elevated Liver Enzymes

Low Platelets

Blood smear might show schistocytes

47
Q

What are the most common causes of death in eclampsic maternal pts.?

A

stroke, cerebral hemorrhage, or ARDS

48
Q

How does eclampsia present?

A

headache, blurred vision, abdominal pain, edema of the face and extremities, altered mental states, and hyper-reflexia

49
Q

What is the tx of eclampsia?

A

Delivery of the fetus as early as possible, otherwise bed rest, monitoring, and tx of HTN

50
Q

How can the seizures of eclampsia be avoided?

A

magnesium sulfate IV

51
Q

What are the risk factors for placental abruption, or premature seperation (partial or complete) of the placenta before delivery?

A

trauma, smoking, HTN, preeclampsia, cocaine use

52
Q

How would placental abruption present?

A

abrupt painful bleeding in third trimester (can be concealed!), possible DIC< maternal shock

53
Q

What are the three types of defective deciudal layer of the placenta, in which there is abnormal attachment and seperation after delivery?

A

placenta:

  • accreta
  • increta
  • percreta
54
Q

What are the risk factors for placenta accreta, increta and percreta?

A

prior C-section

inflammation,

placenta previa

55
Q

What is placenta accreta?

A

when the placenta attached to the myometrium without penetrating it (most common type)

56
Q

What is placenta increta?

A

when the placenta penetrates into the myometrium

57
Q

What is placenta percreta?

A

when the placenta penetrates through the myometrium and into the uterine serosa (invade entire uterine wall) and can result in placental attachment to the rectum or bladder

58
Q

What is placenta previa?

A

attachment of the placenta to the lower uterine segment over internal cervical os. Associated with painless third trimester bleeding

59
Q

What are the risk factors for placenta previa?

A

multiparity, prior C-section

60
Q

What is vasa previa?

A

This occurs when fetal vessels run over, or in close proximity to, the cervical os. This may result in vessel rupture, exsanguination, and fetal death

61
Q

How might vasa previa present?

A

triad of membrane rupture, painless vaginal bleeding, and fetal bradycardia (less than 110 beats/min)

Emergency C-section indicated

62
Q

What is vasa previa frequently associated with?

A

velamentous umbilical cord insertion where the cord inserts in the chorioamniotic membrane rather than the placenta and the fetal vessels then travel to the placenta unprotected by Wharton jelly

63
Q

Postpartum hemorrhage can be due to what?

A

The 4 T’s:

Tone (uterine atony, most common)

Trauma

Thrombin

Tissue (retained products of conception)

64
Q

How should an ectopic pregnancy be handled?

A

Usually a pt. will present around weeks 7-8 after a confirmed pregnancy with unusual bleeding (or if the ectopic preg has ruptured= severe bleeding, shock). If they are unstable, check an ultrasound and move to OR for transfusion usually. If they are stable, take a quantitative hCG and a one-time progesterone, AND GET AN ULTRASOUND. If the ultrasound doesnt show a IUP, look at hCG levels. If they are around 1000-2000, there should definitely be a fetus in the uterus and suspicion for ectopic should rise if there’s not. If hCg is around 200-500 (roughly), be pt.,– it still could just be too early in a normal pregnancy to see something in the uterus. Ask the pt to come back in 48 hrs later and hCG levels should DOUBLE for a normal pregnancy. If not, raise suspicision of an ectopic pregnancy. At this pt. move to the OR and do a DNC to look for products of conception. If they are found, the diagnosis is SAB, if not, ectopic is extremely probable

65
Q

What are the risk factors of an ectopic pregnancy?

A

endometriosis

PID

tubal ligation or reanastomoses

prior ectopic (7% recurrence rate)

66
Q

What is polyhydramnios?

A

The presence of too much amniotic fluid, assoicated with increased risk of fetal malformations (e.g. esophageal/duodenal atresia, anencephaly)

67
Q

What are the main risk factors for polyhydramnios?

A

maternal DM, fetal anemia, and multiple gestations

68
Q

What are some associations of Oligohydramnios?

A

placental insufficiency, bilateral renal agenesis, posterior urethral valves in males, and Potter sequence (below)

69
Q

What female GYN tumor locations have the worst prognoses?

A

(worst) ovarian > endometrial > cervical (better)

70
Q

What are the main vaginal tumors?

A
  • squamous cell carcinomas
  • clear cell adenocarcinomas
  • Sarcome botyoides (embryonal rhabdomyosarcoma variant)
71
Q

What causes most vaginal SCCs?

A

These usually arise 2ndary to cervical SCC; primaries are rare

72
Q

Vaginal clear cell adenocarcinoma is potential complication of what?

A

Typically a sequelae for vaginal adenosis, which occurs most commonly due to DES exposure in utero

73
Q

What is sarcoma botyoides?

A

pediatric tumor marked by a externally visible ‘grape-like’ cluster of malignant, spindle-shaped vaginal cells

Histo: The presence of a cambium is diagnostic of a rhabdoyosarcoma

74
Q

CIN, or cervical intraepithelial neoplasia, typically begins where?

A

In the basal (immature) layer of the transformation zone (i.e. in between the stratified squamous exocervix and the columnar endocervix)- this is where HPV likes to infect!!

NOTE: HPV DNA replication occurs in the more mature keratinocyte layer of the tranformation zone however

75
Q

What do HPV 6/11 lead do?

A

typically condylama aquiminatum, and NOT cervical carcinoma progression (aka low-risk)

76
Q

Why are HPV 16/18 (and 31/33) considered high-risk HPV?

A

Because they integrate into host DNA and utilizes E6 and E& to disrupt the functions of p53 and Rb, respectively, they are more likely to cause neoplastic transformation

77
Q

What are the risk factors of dysplastic change of the cervical epithelium or carcinoma in situ?

A

multiple sexual partners (#1), smoking, sexual intercourse at a young age, HIV

78
Q

Invasive cervical carcinoma most commonly leads to death how?

A

Via later invasion and blockage of the uteters leading to renal failure

79
Q

What is premature ovarian failure?

A

Premature atresia of ovarian follicles in women of reporductive age causing pts. to present with signs of menopause after puberty but before 40

80
Q

What are the most common causes of anovulation?

A

pregnancy, PCOS, obesity, premature ovarian failure

hyperprolactinemia, atheletic girls, eating disorders, Cushing syndrome

81
Q

What is Stein-Levanthal Syndrome (PCOS)?

A

This is related to hyperinsulemia and/or insulin resistance hypothesized to alter hypothalamic hormonal feedback responses leading to increased LH/FSH causing increased androgen production from theca cells and the decreased rate of follicular maturation leading to unruptured cysts and anovulation

82
Q

How does Stein-Levanthal Syndrome (PCOS) present?

A

Enlarged, bilateral cystic (pearls on a string) ovaries that presents with subfertility, amenorrhea/oligomenorrhea, hirsutism, and acne

83
Q

Stein-Levanthal Syndrome (PCOS) is commonly associated with what?

A

obesity

84
Q

What are the risks associated with Stein-Levanthal Syndrome (PCOS)?

A

endometrial cancer due to unopposed estrogen from repeated anovulatory cycles

85
Q

How would Stein-Levanthal Syndrome (PCOS) be treated?

A

weight reduction (10%)

OCPs to regularize cycles, clomiphene citrate

ketoconazole and spironolactone

86
Q

What is a follicular cyst?

A

A normal part of physiology that causes distention due to an unrupture graafian follicle

87
Q

What is a theca-lutein cyst?

A

These are found on the ovaries and are often bilateral and multiple.

88
Q

What are the associations of theca-lutein cysts?

A

choriocarcinomas and hydatidiform moles

89
Q

What are the sources of ovarian neoplasms?

A
  • epithelium
  • germ cells
  • stroma
90
Q

The majority of malignant ovarian tumors arise from where?

A

the epithelium, with serous cystadenocarcinomas being the most common)

91
Q

What are the risk factors for ovarian neoplasms?

A
  • advanced age
  • infertility
  • endometriosis

PCOS

92
Q

Ovarian neoplasms are assoicated with what mutations?

A

BRCA 1/2

93
Q

What things decrease the risk of ovarian neoplasms?

A

previous pregnancy

Hx of breastfeeding

OCPs

tubal ligation

94
Q

How can ovarian tumors be monitored (not good for diagnsosis)?

A

CA-125 (may not even be present in some ovarian tumors so not a good diagnostic tool)

STEP 1 (1) (28 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions