Reproductive - Pathology (Part 1) Flashcards Preview

USMLE (S1) Reproductive > Reproductive - Pathology (Part 1) > Flashcards

Flashcards in Reproductive - Pathology (Part 1) Deck (113)
Loading flashcards...
1
Q

What levels of testosterone and luteinizing hormone would you expect in a patient with an XY genotype who has defective androgen receptors?

A

Both testosterone and luteinizing hormone would be elevated (congenital androgen insensitivity)

2
Q

A patient has elevated testosterone levels; what laboratory test can help you distinguish between a defect in the androgen receptor and the use of exogenous testosterone?

A

An luteinizing hormone level will be elevated with an androgen receptor defect and will be decreased with exogenous testosterone; also, a patient with complete androgen insensitivity will be externally phenotypically female

3
Q

What conditions can result in an elevated testosterone level and a decreased luteinizing hormone level?

A

The use of exogenous steroids and a testosterone-secreting tumor

4
Q

How can levels of testosterone and luteinizing hormone help you distinguish between primary hypogonadism and hypogonadotropic hypogonadism?

A

Both have low testosterone; however, primary hypogonadism (gonad failure) has an elevated luteinizing hormone, whereas hypogonadotropic hypogonadism has a low luteinizing hormone level

5
Q

What is the term for a mismatch between the phenotype of internal (gonads) and external genital structures?

A

Pseudohermaphroditism, a disagreement between the phenotypic (external genitalia) and the gonadal sex

6
Q

What type of internal and external sex organs are present in cases of male pseudohermaphroditism?

A

The testes are present, but the external genitalia are female or ambiguous

7
Q

What type of internal and external sex organs are present in cases of female pseudohermaphroditism?

A

The ovaries are present, but the external genitalia are virilized or ambiguous

8
Q

What in utero events can cause female pseudohermaphroditism at birth?

A

Excessive exposure to androgenic steroids during early gestation; caused by congenital adrenal hyperplasia or exogenous androgens

9
Q

What is the most common etiology of male pseudohermaphroditism?

A

Androgen insensitivity syndrome; formerly known as testicular feminization

10
Q

A normal-appearing female presents to your office with secondary sex characteristics but no sexual hair, and on exam she has a blind pouch vagina and no palpable uterus; what condition should you suspect?

A

Androgen insensitivity syndrome, a mutation in the androgen receptor leading to no response to androgens

11
Q

How can one distinguish between androgen insensitivity syndrome and sex chromosome disorders?

A

In androgen insensitivity syndrome testosterone, estrogen, and luteinizing hormone will all be elevated, while in sex chromosome disorders testosterone and estrogen are low

12
Q

You diagnose a patient with androgen insensitivity syndrome; what should be done to prevent malignancy?

A

Surgical removal of the testicles

13
Q

In someone with androgen insensitivity syndrome, where in the body are the testes often found?

A

Most commonly in the labia majora; they can also be found in the abdomen or pelvis

14
Q

What is the genotype and phenotype for someone with androgen insensitivity syndrome?

A

The genotype is (46,XY), and the phenotype is externally female

15
Q

What is the phenotype of the external genitalia of someone with reductase deficiency?

A

It is ambiguous until puberty (Penis )

16
Q

What are the levels of testosterone, estrogen, and luteinizing hormone in a patient with reductase deficiency?

A

Testosterone and estrogen are normal; luteinizing hormone is normal to increased (dihydrotestosterone and testosterone provide negative feedback)

17
Q

Why do individuals with reductase deficiency undergo genital growth at puberty?

A

Increased levels of testosterone at puberty trigger growth of the external genitalia despite the lack of reductase

18
Q

What reaction is blocked in patients with reductase deficiency?

A

The conversion of testosterone to dihydrotestosterone, which is needed for secondary sex characteristics

19
Q

What is the histologic appearance of a hydatidiform mole? What is the appearance on gross pathology?

A

Cystic swelling of the chorionic villi and the proliferation of the chorionic epithelium (trophoblast); grossly, it has a honeycombed uterus or cluster of grapes appearance

20
Q

A hydatidiform mole is the most common precursor of what malignancy?

A

Choriocarcinoma

21
Q

What is the genotype of a complete hydatidiform mole?

A

46,XX (or 46,XY)

22
Q

A woman presents with abnormal uterine bleeding, highly elevated human chorionic gonadotropin, and an abnormally enlarged uterus; what would you expect to see on sonogram?

A

Hydatidiform mole, which classically has a snowstorm appearance with no fetus on ultrasound

23
Q

Which type of hydatidiform mole has chromosomes that are triploid or tetraploid: a partial mole or a complete mole?

A

A partial mole will commonly have a 69, XXY genotype

24
Q

Which type of hydatidiform mole may contain fetal parts: a partial mole or a complete mole?

A

A partial mole

(remember: PARTial mole contains PARTS)

25
Q

Is a patient who has extremely elevated human chorionic gonadotropin and large uterus size more likely to have a complete or a partial mole?

A

A complete mole; partial moles typically have milder elevations in human chorionic gonadotropin and normal uterus size

26
Q

What is the origin of the genetic material in a complete hydatidiform mole?

A

A complete mole contains exclusively paternal DNA; two sperm fertilize an empty egg

27
Q

What is the origin of the genetic material in a partial hydatidiform mole?

A

This type of mole has DNA from both the mother and the father due to the fertilization of one egg by two sperm; it can be 69,XXX or 69,XXY

28
Q

What is the treatment for hydatidiform mole?

A

Dilatation and curettage; human chorionic gonadotropin level is checked frequently and methotrexate is used if choriocarcinoma develops

29
Q

How does the risk of malignancy differ between complete and partial moles?

A

Complete moles have a 15% to 20% risk for malignant trophoblastic disease and progress 2% of the time to choriocarcinoma; partial moles have a low risk of malignancy () and rarely progress

30
Q

What is the most common cause of recurrent miscarriages in the first weeks of pregnancy?

A

Low progesterone levels associated with no response to ;-human chorionic gonadotropin

31
Q

What is the most common cause of recurrent miscarriages in the first trimester?

A

Chromosomal abnormalities, such as a robertsonian translocation

32
Q

What is the most common cause of recurrent miscarriages in the second trimester?

A

Bicornuate uterus, resulting from incomplete fusion of the paramesonephric ducts during uterine development

33
Q

A pregnant woman is noted to have a blood pressure of 140/90, swollen ankles and eyes, and protein in her urine; what is the diagnosis?

A

This is classic triad of preeclampsia (hypertension, proteinuria, and edema) which affects 7% of pregnancies

34
Q

What condition should you think of when a pregnant woman who has been monitored for preeclampsia develops seizures?

A

Eclampsia

35
Q

How can you distinguish between preeclampsia and a molar pregnancy in a pregnant woman with new-onset hypertension?

A

Preeclampsia occurs from 20 weeks gestation to 6 weeks postpartum; symptoms before 20 weeks may be due to a molar pregnancy

36
Q

Name four conditions that predispose a woman to preeclampsia or eclampsia.

A

Hypertension, chronic renal disease, diabetes, and autoimmune disorders

37
Q

A pregnant woman is seen in the emergency room with elevated blood pressure, a platelet count of 90, elevated liver function tests, and elevated indirect bilirubin; what is the diagnosis?

A

This is likely HELLP syndrome: Hemolysis, Elevated Liver function tests, and a Low Platelet count

38
Q

What is thought to be the initial insult that leads to the increased vascular tone seen in preeclampsia?

A

Poor dilation of the spiral arteries causes placental insufficiency, which leads to increased vascular tone as a means of improving perfusion

39
Q

What is the only definitive treatment for preeclampsia?

A

Delivery of the fetus

40
Q

What lab findings would you expect to see in a pregnant woman with proteinuria who develops headache, blurred vision, and hyperreflexia?

A

Thrombocytopenia and hyperuricemia; she may have preeclampsia or eclampsia

41
Q

In a stable mother with a preterm fetus that is not yet viable, what is the treatment for preeclampsia?

A

Bed rest, salt restriction, and treatment of hypertension

42
Q

Which two drugs can be used for seizure prophylaxis or treatment in pregnant women with preeclampsia or eclampsia?

A

Magnesium sulfate and diazepam

43
Q

The mortality associated with pregnancy-induced hypertension is most often due to what two conditions?

A

Cerebral hemorrhage and adult respiratory distress syndrome

44
Q

A woman presents with painful vaginal bleeding in the third trimester of pregnancy and you suspect the placenta is no longer attached to the uterine wall; what is the diagnosis?

A

Abruptio placentae

(remember: Abrupt detachment)

45
Q

What are two complications of abruptio placentae?

A

Fetal demise and disseminated intravascular coagulation in the mother

46
Q

Following delivery, a woman has massive bleeding and fails to complete the third stage (delivery of the placenta); what is the likely diagnosis?

A

Placenta accreta, in which the placenta is firmly attached to the myometrium and is not expelled after delivery of the fetus

47
Q

What is the defect that allows placenta accreta to occur?

A

Implantation in the myometrium can occur where there is a defective decidua, or basal layer, of the endometrium

48
Q

A woman presents with painless bleeding during pregnancy; what is the likely location of the placenta?

A

Painless bleeding in any trimester is consistent with placenta previa, which implants over the lower uterine segment and may occlude the cervical os

49
Q

What is the most common site of an ectopic pregnancy?

A

The fallopian tubes, although it also occurs in the abdomen, cervix, or ovaries

50
Q

A sexually active 20-year-old woman presents with sudden severe lower abdominal pain and a history of pelvic inflammatory disease. If tests reveal an increased human chorionic gonadotropin level, what diagnosis is likely?

A

Ectopic pregnancy

51
Q

Name two risk factors for placenta previa.

A

Prior pregnancy or prior cesarean section

52
Q

Name three risk factors for placenta accreta.

A

Prior cesarean section, inflammation (such as Asherman's syndrome), or placenta previa

53
Q

Name three risk factors for abruptio placentae.

A

Smoking, hypertension, and cocaine use

54
Q

Name four risk factors for ectopic pregnancy.

A

Pelvic inflammatory disease (salpingitis), tubal surgery, rupture of the appendix, and history of infertility

55
Q

If a fetal anomaly has caused polyhydramnios, what process is likely failing to occur?

A

An inability to swallow amniotic fluid results in an increased amount of amnion

56
Q

Knowing that a fetus unable to swallow results in polyhydramnios, name two congenital conditions associated with increased amniotic fluid.

A

Esophageal or duodenal atresia and anencephaly

57
Q

If a fetal anomaly has caused oligohydramnios, what process is likely failing to occur?

A

Oligohydramnios is a result of decreased urine excretion due to a disorder in the perfusion, function, or excretion of urine from the urinary tract

58
Q

Name three congenital conditions that are associated with oligohydramnios.

A

Placental insufficiency (decreased renal perfusion), bilateral renal agenesis (no urinary tract), and posterior urethral valves (obstructed urinary excretion)

59
Q

What fetal syndrome is associated with chronic low amounts of amniotic fluid?

A

Oligohydramnios can result in Potter's syndrome due to the space restriction from a lack of amniotic fluid, leading to characteristic facies and other abnormalities

60
Q

On histology, where would you expect to see the initial stages of cervical dysplasia or carcinoma in situ ?

A

At the basal layer of the squamocolumnar junction; dysplasia begins basally and progressively extends to the apical surface

61
Q

What cancer, seen only among women, can be prevented by the use of a vaccine?

A

Cervical cancer, which is caused by the human papillomavirus (typically types 16 and 18) and is usually squamous cell carcinoma

62
Q

What characteristics of cervical cancer make it amenable to screening and effective intervention?

A

Cervical cancer develops slowly and has identifiable precursor lesions, meaning it can be located and removed in an early stage before developing to invasive carcinoma

63
Q

Which area of the cervix is particularly susceptible to human papillomavirus infection and dysplasia leading to cervical cancer?

A

The squamocolumnar junction

64
Q

Name four risk factors for cervical cancer.

A

Multiple sexual partners, early sexual intercourse, HIV infection, and smoking

65
Q

A previously healthy 40-year-old woman who was recently diagnosed with cervical carcinoma now has oliguria and a creatinine of 4.0 mg/dL. What is the likely cause?

A

Lateral invasion of the carcinoma resulting in obstruction of the ureters

66
Q

On laparoscopy, a woman with chronic pelvic pain has multiple lesions that appear like chocolate cysts on her ovaries. She asks if this means she has cancer; what do you tell her?

A

Cancer is unlikely; these lesions are classic for endometriosis, the nonneoplastic placement of endometrium in abnormal locations

67
Q

A woman has been unable to conceive for several years and complains of severe pain during her periods; what diagnosis should you consider?

A

Endometriosis: ectopic endometrial tissue commonly on the peritoneum or ovaries

68
Q

How are chocolate cysts formed?

A

Cyclic bleeding (menstruation) of the ectopic endometrial tissue results in cysts filled with blood that have a chocolate appearance

69
Q

What processes are thought to lead to the ectopic endometrial implantation in endometriosis?

A

Retrograde menstrual flow or ascending pelvic infection

70
Q

What is adenomyosis?

A

Adenomyosis occurs when endometrial tissue develops within the myometrium

71
Q

What happens to the endometrium when it is exposed to excessive or continuous estrogen stimulation?

A

Endometrial hyperplasia, the abnormal proliferation of endometrial glands

72
Q

A woman who is postmenopausal presents with vaginal bleeding; what two conditions should immediately come to mind?

A

Endometrial hyperplasia, or the more worrisome endometrial carcinoma

73
Q

Name four risk factors for endometrial hyperplasia.

A

Hormone replacement therapy, anovulatory cycles, granulosa cell tumors, and polycystic ovarian syndrome (think: increased estrogen exposure)

74
Q

What is the most common gynecologic malignancy?

A

Endometrial carcinoma

75
Q

A woman who is 60 years of age presents with vaginal bleeding and has a distant history of endometrial hyperplasia; what should be in your differential?

A

Endometrial carcinoma; peak occurrence is between 55-65 years of age

76
Q

Name six risk factors for endometrial carcinoma.

A

Endometrial hyperplasia, late menopause, nulliparity, hypertension, diabetes, obesity, and prolonged estrogen without progestins (think: increased estrogen exposure)

77
Q

What histologic finding best determines the prognosis of a woman with newly diagnosed endometrial cancer?

A

Increased myometrial invasion portends a poorer prognosis

78
Q

A 30-year-old black female comes to your office with abnormal uterine bleeding and you note she has a history of several miscarriages. What benign neoplasm could be responsible?

A

Leiomyomas, or fibroids

79
Q

What genetic background predisposes women to both fibroids (leiomyomas) and leiomyosarcoma?

A

Fibroids are at least twice as common in women of African genetic background

80
Q

On average how long does it take for a leiomyoma, which is benign, to progress to leiomyosarcoma?

A

Never; leiomyomas do not progress to leiomyosarcoma or undergo malignant transformation

81
Q

A woman has a hysterectomy for severe fibroids that caused her to have iron-deficiency anemia due to bleeding; what histology would confirm this diagnosis?

A

Bundles of smooth muscle in a whorled pattern

82
Q

Leiomyomas are sensitive to what hormone? What is the clinical significance?

A

Estrogen, meaning leiomyomas grow with pregnancy and shrink with menopause

83
Q

How can leiomyosarcoma be distinguished from leiomyoma based on gross tumor appearance?

A

Leiomyosarcomas are irregularly shaped bulky tumors, frequently with hemorrhagic or necrotic areas, whereas leiomyomas are well demarcated and often multiple

84
Q

A middle-aged woman with known fibroids has developed a leiomyosarcoma; what are the chances of cure and how did this likely develop?

A

Leiomyosarcoma is highly aggressive and often recurs following treatment; it develops de novo, not from a prior fibroid

85
Q

Rank the following types of gynecological tumors according to their incidence from most to least common: ovarian, cervical, endometrial.

A

Endometrial ; ovarian ; cervical (US data; cervical tumors are the most common worldwide)

86
Q

Rank the following types of gynecological tumors according to their prognosis, from worst to best: endometrial, ovarian, cervical.

A

Ovarian ; cervical ; endometrial

87
Q

What distinguishes premature ovarian failure from menopause?

A

Menopause occurs after the age of 40 years, whereas premature ovarian failure occurs between puberty and the age of 40 years (normal reproductive age)

88
Q

How are the causes and symptoms of premature ovarian failure and menopause related?

A

Both present with the same signs (menopause) and are caused by the atresia of ovarian follicles

89
Q

You suspect a woman has premature ovarian failure; what would you expect to see on blood labs?

A

Decreased estrogen and increased follicle-stimulating hormone and luteinizing hormone

90
Q

Name two causes of anovulation that are due to increased levels of circulating estrogens.

A

Polycystic ovarian syndrome and obesity

91
Q

Name four endocrine abnormalities that can cause anovulation.

A

Thyroid disorders, Cushing's syndrome, adrenal insufficiency, hyperprolactinemia

92
Q

What cause of anovulation may be seen in a woman who has had several episodes of pelvic inflammatory disease?

A

Asherman's syndrome (due to postinflammatory adhesion formation)

93
Q

What might be a cause of anovulation in a 30-year-old woman who is experiencing hot flashes, irregular menstrual cycles, and dyspareunia?

A

Premature ovarian failure

94
Q

Disrupting what endocrine signaling system may cause anovulation?

A

The hypothalamus-pituitary-ovary axis (such as in Kallmann syndrome, where there is a failure of gonadotrope cells in the pituitary)

95
Q

You are seeing an obese woman who notes she has irregular menstrual cycles but a negative pregnancy test and has developed dark hair above her lips and on her chest; what is the cause of her infertility?

A

Polycystic ovarian syndrome, which causes anovulation due to elevated luteinizing hormone levels

96
Q

What is the etiology of the increased serum testosterone level in a woman with polycystic ovarian syndrome?

A

The elevation in luteinizing hormone acts on theca cells resulting in altered steroid synthesis and increased androgen secretion

97
Q

You order labs on a woman with polycystic ovarian syndrome; what do you expect the relative levels of luteinizing hormone, follicle-stimulating hormone, testosterone, and glucose to be?

A

Increased luteinizing hormone, suppressed follicle-stimulating hormone via negative feedback, increased testosterone, and often increased glucose (insulin resistance)

98
Q

A woman with polycystic ovarian syndrome is at increased risk for what type of cancer?

A

Endometrial cancer; remember there is prolonged exposure to estrogens

99
Q

Name three treatments for polycystic ovarian syndrome that act by interfering with the elevated secretion of luteinizing hormone.

A

Oral contraceptive pills, gonadotropin analogs, and clomiphene (a selective estrogen receptor modulator) all modulate feedback to the hypothalamus and decrease luteinizing hormone levels

100
Q

What are two nonpharmaceutical treatments for polycystic ovarian syndrome?

A

Weight loss and surgery (ovarian wedge resection or laparoscopic drilling)

101
Q

What is an ovarian cyst that consists of an unruptured, distended graafian follicle called?

A

A follicular cyst

102
Q

A woman with endometrial hyperplasia and anovulatory cycles is determined to have an ovarian cyst; what is the most likely type?

A

A follicular cyst, which can be associated with endometrial hyperplasia and elevated estrogens

103
Q

What is the prognosis for a woman who has a cyst caused by bleeding into a persistent corpus luteum?

A

This is a corpus luteum cyst, which often regress spontaneously

104
Q

What is the cause of a chocolate cyst?

A

This is an endometrioma, a common result of endometriosis, which varies with the menstrual cycle and forms by bleeding into a cyst cavity

105
Q

What type of cyst is most likely to form in the presence of elevated gonadotropins?

A

Theca-lutein cysts, which respond to gonadotropins and are thus often multiple and bilateral

106
Q

What type of cysts are associated with choriocarcinoma and moles?

A

Theca-lutein cysts

107
Q

Name a rare but malignant germ cell tumor that has large hyperchromatic syncytiotrophoblast cells on histopathology.

A

Choriocarcinoma

108
Q

What tumor, associated with theca-lutein cysts, can occur in either the mother or fetus during pregnancy?

A

Choriocarcinoma

109
Q

What serum marker is used as a tumor marker for choriocarcinoma?

A

Human chorionic gonadotropin

110
Q

How can serum markers help to distinguish between choriocarcinoma and dysgerminoma?

A

Both express human chorionic gonadotropin, but a dysgerminoma will also cause elevated lactate dehydrogenase

111
Q

What tumor is the female correlate to the seminoma in males?

A

The dysgerminoma, although it is much rarer, comprising only 1% of germ cell tumors

112
Q

On histology, a _____ (dysgerminoma/endodermal sinus) tumor will have sheets of uniform cells, whereas a _____ (dysgerminoma/endodermal sinus) tumor will have Schiller-Duval bodies that look like glomeruli.

A

Dysgerminoma; endodermal sinus (yolk sac tumor)

113
Q

What germ cell tumor is very aggressive and appears as a yellow, friable mass on gross pathology?

A

An endodermal sinus tumor (yolk sac tumor)