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First Aid > Reproductive - Pathology (1) > Flashcards

Reproductive - Pathology (1) Flashcards

1
Q

Klinefelter syndrome

  • Type of disorder
  • Due to…
  • Findings
  • Hormones
A
  • Type of disorder
    • Sex chromosome disorder of sexual development
    • [male] (XXY), 1:850
  • Due to…
    • Presence of inactivated X chromosome (Barr body).
  • Findings
    • Testicular atrophy, eunuchoid body shape, tall, long extremities, gynecomastia, female hair distribution [A].
    • May present with developmental delay.
    • Common cause of hypogonadism seen in infertility work-up.
  • Hormones
    • Dysgenesis of seminiferous tubules –> decreased inhibin –>Ž increased FSH.
    • Abnormal Leydig cell function Ž–> decreased testosterone –>Ž increased LH Ž–> increased estrogen.
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2
Q

Turner syndrome

  • Type of disorder
  • Findings
  • Hormones
  • Due to…
A
  • Type of disorder
    • Sex chromosome disorder of sexual development
    • [female] (XO)
      • “Hugs and kisses” (XO) from Tina Turner.
  • Findings
    • Short stature (if untreated), ovarian dysgenesis (streak ovary), shield chest, bicuspid aortic valve, preductal coarctation (femoral < brachial pulse, notched ribs), lymphatic defects (result in webbed neck or cystic hygroma; lymphedema in feet, hands), horseshoe kidney [B].
    • Most common cause of 1° amenorrhea.
    • No Barr body.
    • Menopause before menarche.
    • Pregnancy is possible in some cases (oocyte donation, exogenous estradiol-17β and progesterone)
  • Hormones
    • Decreased estrogen leads to increased LH, FSH.
  • Due to…
    • Can result from mitotic or meiotic error.
    • Can be complete monosomy (45,XO) or mosaicism (e.g., 45,XO/46,XX).
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3
Q

Double Y males

  • Type of disorder
  • Findings
A
  • Type of disorder
    • Sex chromosome disorder of sexual development
    • [male] (XYY), 1:1000
  • Findings
    • Phenotypically normal, very tall, severe acne, antisocial behavior (seen in 1–2% of XYY males).
    • Normal fertility.
    • Small percentage diagnosed with autism spectrum disorders.
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4
Q

True hermaphroditism

  • Type of disorder
  • Findings
A
  • Type of disorder
    • Sex chromosome disorder of sexual development
    • (46,XX or 47,XXY)
  • Findings
    • Also called ovotesticular disorder of sex development.
    • Both ovary and testicular tissue present (ovotestis);
      • Ambiguous genitalia.
    • Very rare.
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5
Q

Diagnosing disorders of sex hormones

  • For each (increased/decreased)
    • Testosterone
    • LH
  • Defective androgen receptor
  • Testosterone-secreting tumor, exogenous steroids
  • 1° hypogonadism
  • Hypogonadotropic hypogonadism
A
  • Defective androgen receptor
    • Testosterone: Increased
    • LH: Increased
  • Testosterone-secreting tumor, exogenous steroids
    • Testosterone: Increased
    • LH: Decreased
  • 1° hypogonadism
    • Testosterone: Decreased
    • LH: Increased
  • Hypogonadotropic hypogonadism
    • Testosterone: Decreased
    • LH: Decreased
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6
Q

Disorders of sex development

  • Definition
  • Terms
A
  • Definition
    • Disagreement between the phenotypic (external genitalia) and gonadal (testes vs. ovaries) sex.
  • Terms
    • Pseudohermaphrodite
    • Hermaphrodite
    • Intersex​
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7
Q

Female pseudohermaphrodite

  • Type of disorder
  • Findings
  • Due to…
A
  • Type of disorder
    • Disorders of sex development
    • (XX)
  • Findings
    • Ovaries present, but external genitalia are virilized or ambiguous.
  • Due to…
    • Due to excessive and inappropriate exposure to androgenic steroids during early gestation
    • e.g., congenital adrenal hyperplasia or exogenous administration of androgens during pregnancy)
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8
Q

Male pseudohermaphrodite

  • Type of disorder
  • Findings
A
  • Type of disorder
    • Disorders of sex development
    • (XY)
  • Findings
    • Testes present, but external genitalia are female or ambiguous.
    • Most common form is androgen insensitivity syndrome (testicular feminization).
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9
Q

Aromatase deficiency

  • Definition
  • Findings
A
  • Definition
    • Inability to synthesize estrogens from androgens.
  • Findings
    • Masculinization of female (46,XX) infants (ambiguous genitalia), and increased serum testosterone and androstenedione.
    • Can present with maternal virilization during pregnancy (fetal androgens cross the placenta).
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10
Q

Androgen insensitivity syndrome

  • Definition
  • Findings
A
  • Definition
    • Defect in androgen receptor resulting in normal-appearing female
    • (46,XY)
  • Findings
    • Female external genitalia with rudimentary vagina
    • Uterus and fallopian tubes generally absent
    • Presents with scant sexual hair
    • Develops testes (often found in labia majora; surgically removed to prevent malignancy).
    • Increased testosterone, estrogen, LH (vs. sex chromosome disorders).
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11
Q

5α-reductase deficiency

  • Definition
  • Findings
A
  • Definition
    • Autosomal recessive
    • Sex limited to genetic males (46,XY).
    • Inability to convert testosterone to DHT.
  • Findings
    • Ambiguous genitalia until puberty, when increased testosterone causes masculinization/increased growth of external genitalia.
    • Testosterone/estrogen levels are normal
    • LH is normal or increased.
    • Internal genitalia are normal.
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12
Q

Kallmann syndrome

  • Definition
  • Definition
  • Findings
A
  • Definition
    • Failure to complete puberty
    • A form of hypogonadotropic hypogonadism.
  • Due to…
    • Defective migration of GnRH cells and formation of olfactory bulb
    • Decreased synthesis of GnRH in the hypothalamus
  • Findings
    • Anosmia
    • Decreased GnRH, FSH, LH, testosterone, and infertility
      • Low sperm count in males
      • Amenorrhea in females
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13
Q

Hydatidiform mole

  • Definition
  • Treatment
  • Types
A
  • Definition
    • Cystic swelling of chorionic villi and proliferation of chorionic epithelium (only trophoblast).
  • Treatment
    • Dilation and curettage and methotrexate.
    • Monitor β-hCG.
  • Types
    • Complete mole
    • Partial mole
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14
Q

Hydatidiform mole:
Complete

  • Karyotype
  • hCG (increased/decreased/no effect)
  • Uterine size (increased/decreased/no effect)
  • Convert to choriocarcinoma (%)
  • Fetal parts (yes/no)
  • Components
  • Risk of complications
  • Symptoms
  • Imaging
A
  • Karyotype
    • 46,XX; 46,XY
  • hCG
    • Really increased
  • Uterine size
    • Increased
  • Convert to choriocarcinoma
    • 2%
  • Fetal parts
    • No
  • Components
    • Enucleated egg + single sperm (subsequently duplicates paternal DNA)
    • Empty egg + 2 sperm is rare
  • Risk of complications
    • 15–20% malignant trophoblastic disease
  • Symptoms
    • Vaginal bleeding, enlarged uterus, hyperemesis, preeclampsia, hyperthyroidism
  • Imaging
    • Honeycombed uterus or “clusters of grapes” [A]
    • “Snowstorm” on ultrasound [B]
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15
Q

Hydatidiform mole:
Partial

  • Karyotype
  • hCG (increased/decreased/no effect)
  • Uterine size (increased/decreased/no effect)
  • Convert to choriocarcinoma (%)
  • Fetal parts (yes/no)
  • Components
  • Risk of complications
  • Symptoms
  • Imaging
A
  • Karyotype
    • 69,XXX; 69,XXY; 69,XYY
  • hCG
    • Increased
  • Uterine size
    • No effect
  • Convert to choriocarcinoma
    • Rare
  • Fetal parts
    • Yes
    • Partial = fetal parts
  • Components
    • 2 sperm + 1 egg
  • Risk of complications
    • Low risk of malignancy (< 5%)
  • Symptoms
    • Vaginal bleeding, abdominal pain
  • Imaging
    • Fetal parts
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16
Q 
Hypertension in pregnancy:
Gestational hypertension (pregnancy-induced hypertension)
  • Definition
  • Treatment
A
  • Definition
    • BP > 140/90 mmHg after the 20th week of gestation.
    • No pre-existing hypertension.
    • No proteinuria or end-organ damage.
  • Treatment
    • Antihypertensives (α-methyldopa, labetalol, hydralazine, nifedipine)
    • Deliver at 39 weeks.
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17
Q

Hypertension in pregnancy:
Preeclampsia

  • Definition
  • Due to…
  • Findings
  • Complications
  • Treatment
A
  • Definition
    • Defined as hypertension (> 140/90 mmHg) and proteinuria (> 300 mg/24 hr) after 20th week of gestation to 6 weeks postpartum (< 20 weeks suggests molar pregnancy).
  • Due to…
    • Caused by abnormal placental spiral arteries
    • Incidence increases in patients with preexisting hypertension, diabetes, chronic renal disease, or autoimmune disorders
  • Findings
    • Results in maternal endothelial dysfunction, vasoconstriction, or hyperreflexia.
    • Severe features include BP > 160/110 mmHg with or without end-organ damage, e.g., headache, scotoma, oliguria, increased AST/ALT, thrombocytopenia.
  • Complications
    • Placental abruption, coagulopathy, renal failure, uteroplacental insufficiency, or eclampsia.
  • Treatment
    • Antihypertensives
    • Deliver at 34 weeks (severe) or 37 weeks (mild)
    • IV magnesium sulfate to prevent seizure.
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18
Q

Hypertension in pregnancy:
Eclampsia

  • Definition
  • Findings
  • Treatment
A
  • Definition
    • Preeclampsia + maternal seizures.
  • Findings
    • Maternal death due to stroke –>Ž intracranial hemorrhage or ARDS.
  • Treatment
    • Antihypertensives, IV magnesium sulfate, immediate delivery.
19
Q

Hypertension in pregnancy:
HELLP syndrome

  • Definition
  • Treatment
A
  • Definition
    • Hemolysis, Elevated Liver enzymes, Low Platelets.
    • A manifestation of severe preeclampsia, although may occur without hypertension.
  • Treatment
    • Immediate delivery.
20
Q 
Pregnancy complications:
Placental abruption (abruptio placentae)
  • Definition
  • Risk factors
  • Presentation
A
  • Definition
    • Premature separation (partial or complete) of placenta from uterine wall before delivery of infant.
    • Life threatening for mother and fetus.
  • Risk factors
    • Trauma (e.g., motor vehicle accident), smoking, hypertension, preeclampsia, cocaine abuse.
  • Presentation
    • Abrupt, painful bleeding (concealed or apparent) in third trimester
    • Possible DIC, maternal shock, fetal distress.
21
Q

Pregnancy complications:
Placenta accreta / increta / percreta

  • Definition
  • Risk factors
  • Placenta accreta
  • Placenta increta
  • Placenta percreta
  • Presentation
A
  • Definition
    • Defective decidual layer –>Ž abnormal attachment and separation after delivery.
    • Life threatening for mother.
  • Risk factors
    • Prior C-section, inflammation, placenta previa.
    • Three types distinguishable by the depth of penetration:
  • Placenta accreta
    • Placenta attaches to myometrium without penetrating it
    • Most common type.
  • Placenta increta
    • Placenta penetrates into myometrium.
  • Placenta percreta
    • Placenta penetrates (“perforates”) through the myometrium and into uterine serosa (invades entire uterine wall)
    • Can result in placental attachment to rectum or bladder.
  • Presentation
    • No separation of placenta after delivery Ž–> massive bleeding.
22
Q

Pregnancy complications

  • Placenta previa
    • Definition
    • Findings
    • Risk factors
  • Retained placental tissue
A
  • Placenta previa (image)
    • Definition
      • Attachment of placenta to lower uterine segment.
    • Findings
      • Lies near (marginal, not shown), partially covers (partial), or completely covers internal cervical os.
    • Risk factors
      • Multiparity, prior C-section.
  • Retained placental tissue
    • May cause postpartum hemorrhage
    • Increased risk of infection
23
Q

Pregnancy complications:
Ectopic pregnancy

  • Definition
  • Findings
  • Diagnosis
  • Risk factors
A
  • Definition
    • Most often in ampulla of fallopian tube ([A] shows 10-mm embryo within oviduct at 7 weeks’ gestation).
  • Findings
    • Suspect with history of amenorrhea, lower-than-expected rise in hCG based on dates, and sudden lower abdominal pain
    • Often clinically mistaken for appendicitis
    • Pain with or without bleeding
  • Diagnosis
    • Confirm with ultrasound.
  • Risk factors
    • ƒƒHistory of infertility
    • Salpingitis (PID)
    • Ruptured appendix
    • Prior tubal surgery
24
Q

Amniotic fluid abnormalities

  • Polyhydramnios
    • Definition
    • Associations
  • Oligohydramnios
    • Definition
    • Associations
    • Can cause…
A
  • Polyhydramnios
    • > 1.5–2 L of amniotic fluid
    • Associated with fetal malformations (e.g., esophageal/duodenal atresia, anencephaly; both result in inability to swallow amniotic fluid), maternal diabetes, fetal anemia, multiple gestations.
  • Oligohydramnios
    • < 0.5 L of amniotic fluid
    • Associated with placental insufficiency, bilateral renal agenesis, or posterior urethral valves (in males) and resultant inability to excrete urine.
    • Any profound oligohydramnios can cause Potter sequence.
25
Q

Cervical pathology:
Dysplasia and carcinoma in situ

  • Definition
  • Associations
  • Findings
  • Risk factors
A
  • Definition
    • Disordered epithelial growth
    • Begins at basal layer of squamocolumnar junction (transition zone) and extends outward.
    • Classified as CIN 1, CIN 2, or CIN 3 (severe dysplasia or carcinoma in situ), depending on extent of dysplasia.
  • Associations
    • Associated with HPV 16 and HPV 18, which produce both the E6 gene product (inhibits p53 suppressor gene) and E7 gene product (inhibits RB suppressor gene).
  • Findings
    • May progress slowly to invasive carcinoma if left untreated.
    • Typically asymptomatic (detected with Pap smear) or presents as abnormal vaginal bleeding (often postcoital).
  • Risk factors
    • Multiple sexual partners (#1), smoking, early sexual intercourse, HIV infection.
26
Q

Cervical pathology:
Invasive carcinoma

A
  • Often squamous cell carcinoma.
  • Pap smear can catch cervical dysplasia (koilocytes [A]) before it progresses to invasive carcinoma.
  • Lateral invasion can block ureters, causing renal failure.
27
Q

Endometritis

  • Definition
  • Treatment
A
  • Definition
    • Inflammation of the endometrium (with plasma cells and lymphocytes) [A] associated with retained products of conception following delivery (vaginal/C-section)/miscarriage/abortion or foreign body such as an IUD.
    • Retained material in uterus promotes infection by bacterial flora from vagina or intestinal tract.
  • Treatment
    • Gentamicin + clindamycin with or without ampicillin.
28
Q

Endometriosis

  • Definition
  • Locations
  • Findings
  • Due to…
  • Treatment
A
  • Definition
    • Non-neoplastic endometrial glands/stroma outside of the endometrial cavity [A].
  • Locations
    • Can be found anywhere
      • Most common sites are ovary, pelvis, and peritoneum.
    • In the ovary, appears as an endometrioma (blood-filled “chocolate cyst”).
  • Findings
    • Characterized by cyclic pelvic pain, bleeding, dysmenorrhea, dyspareunia, dyschezia (pain with defecation), infertility; normal-sized uterus
  • Due to…
    • Can be due to retrograde flow, metaplastic transformation of multipotent cells, or transportation of endometrial tissue via the lymphatic system.
  • Treatment
    • NSAIDs, OCPs, progestins, GnRH agonists, surgery.
29
Q

Adeno-

  • Adenomyosis
    • Definition
    • Due to…
    • Findings
    • Treatment
  • Adenomyoma
A
  • Adenomyosis
    • Definition
      • Extension of endometrial tissue (glandular) into the uterine myometrium.
    • Due to…
      • Caused by hyperplasia of the basalis layer of the endometrium.
    • Findings
      • Dysmenorrhea, menorrhagia.
      • Uniformly enlarged, soft, globular uterus.
    • Treatment
      • Hysterectomy
  • Adenomyoma (polyp)
    • Well-circumscribed collection of endometrial tissue within the uterine wall.
    • May contain smooth muscle cells.
    • Can extend into the endometrial cavity in the form of a polyp.
30
Q

Endometrial proliferation

  • For each
    • Definition
    • Findings
    • Risk factors
  • Endometrial hyperplasia
  • Endometrial carcinoma
A
  • Endometrial hyperplasia
    • Definition
      • Abnormal endometrial gland proliferation usually caused by excess estrogen stimulation.
      • Increased risk for endometrial carcinoma.
    • Findings
      • Clinically manifests as postmenopausal vaginal bleeding.
    • Risk factors
      • Anovulatory cycles, hormone replacement therapy, polycystic ovarian syndrome, and granulosa cell tumor.
  • Endometrial carcinoma
    • Definition
      • Most common gynecologic malignancy.
      • Peak occurrence at 55–65 years old.
      • Increased myometrial invasion –> decreased prognosis.
    • Findings
      • Clinically presents with vaginal bleeding.
      • Typically preceded by endometrial hyperplasia.
    • Risk factors
      • Prolonged use of estrogen without progestins, obesity, diabetes, hypertension, nulliparity, and late menopause. 
31
Q

Leiomyoma (fibroid)

  • Definition
  • Findings
A
  • Definition
    • Most common tumor in females.
    • Increased incidence in blacks
    • Benign smooth muscle tumor
      • Malignant transformation is rare
      • Does not progress to leiomyosarcoma
    • Peak occurrence at 20–40 years old
  • Findings
    • Often presents with multiple discrete tumors [A].
    • Estrogen sensitive— tumor size increases with pregnancy and decreases with menopause.
    • May be asymptomatic, cause abnormal uterine bleeding, or result in miscarriage.
    • Severe bleeding may lead to iron deficiency anemia.
    • Whorled pattern of smooth muscle bundles with well-demarcated borders.
32
Q

Gynecologic tumor epidemiology

  • Incidence
  • Worst prognosis
A
  • Incidence
    • Endometrial > ovarian > cervical
      • Data pertain to the United States
    • Cervical cancer is most common worldwide
  • Worst prognosis
    • Ovarian > cervical > endometrial.
33
Q

Ovarian problems

  • Premature ovarian failure
    • Definition
    • Findings
  • Most common causes of anovulation
A
  • Premature ovarian failure
    • Definition
      • Premature atresia of ovarian follicles in women of reproductive age.
    • Findings
      • Patients present with signs of menopause after puberty but before age 40. 
      • Decreased estrogen
      • Increased LH, FSH.
  • Most common causes of anovulation
    • Pregnancy, polycystic ovarian syndrome, obesity, HPO axis abnormalities, premature ovarian failure, hyperprolactinemia, thyroid disorders, eating disorders, female athletes, Cushing syndrome, adrenal insufficiency.
34
Q

Polycystic ovarian syndrome (Stein-Leventhal syndrome)

  • Definition
  • Hormones
  • Findings
A
  • Definition
    • Hyperandrogenism due to deranged steroid synthesis by theca cells, hyperinsulinemia
    • Most common cause of infertility in women.
  • Hormones
    • Estrogen increases steroid hormone-binding globulin (SHBG) and decreases LH
      • Ultimately resulting in decreased free testosterone
      • Insulin and testosterone decreases SHBG –>Ž increased free testosterone. 
    • Increased LH due to pituitary/hypothalamus dysfunction.
    • Increased LH, increased FSH (LH:FSH, 3:1), increased testosterone, increased estrogen (from aromatization).
  • Findings
    • Results in enlarged, bilateral cystic ovaries [A]
    • Presents with amenorrhea/oligomenorrhea, hirsutism, acne, infertility.
35
Q

Polycystic ovarian syndrome (Stein-Leventhal syndrome)

  • Associations
  • Treatment
    • For hirsutism, acne
    • For infertility
    • For endometrial protection
A
  • Associations
    • Associated with obesity. 
    • Increased risk of endometrial cancer 2° to increased estrogens from the aromatization of testosterone and absence of progesterone.
  • Treatment
    • For hirsutism, acne
      • Weight reduction
      • OCPs
        • Estrogen increases SHBG and decreases LH Ž–> decreased free testosterone
      • Antiandrogens
    • For infertility
      • Clomiphene citrate
        • Blocks negative feedback of circulating estrogen
        • Decreases FSH, LH
      • Metformin
        • Increases insulin sensitivity, decreases insulin levels –> results in decreased testosterone
        • Enables LH surge
    • For endometrial protection
      • Cyclic progesterones (antagonizes endometrial proliferation)
36
Q

Ovarian cysts

  • Follicular cyst
  • Corpus luteum cyst
  • Theca-lutein cyst
A
  • Follicular cyst
    • Distention of unruptured graafian follicle.
    • May be associated with hyperestrogenism and endometrial hyperplasia.
    • Most common ovarian mass in young women.
  • Corpus luteum cyst
    • Hemorrhage into persistent corpus luteum.
    • Commonly regresses spontaneously.
  • Theca-lutein cyst
    • Often bilateral/multiple.
    • Due to gonadotropin stimulation.
    • Associated with choriocarcinoma and moles.
37
Q

Ovarian cysts

  • Hemorrhagic cyst
  • Dermoid cyst
  • Endometrioid cyst
A
  • Hemorrhagic cyst
    • Blood vessel rupture in cyst wall.
    • Cyst grows with increased blood retention
    • Usually self-resolves.
  • Dermoid cyst
    • Mature teratoma.
    • Cystic growths filled with various types of tissue such as fat, hair, teeth, bits of bone, and cartilage.
  • Endometrioid cyst
    • Endometriosis within ovary with cyst formation.
    • Varies with menstrual cycle.
    • When filled with dark, reddish-brown blood it is called a “chocolate cyst.”
38
Q

Ovarian neoplasms

  • Definition
  • Arise from…
  • Risk factors
  • Findings
  • Diagnosis
A
  • Definition
    • Most common adnexal mass in women > 55 years old.
    • Can be benign or malignant.
  • Arise from surface epithelium, germ cells, and sex cord stromal tissue.
    • Majority of malignant tumors arise from epithelial cells.
    • Majority (95%) are epithelial (serous cystadenocarcinoma most common).
  • Risk factors
    • Risk increases with advanced age, infertility, endometriosis, PCOS, genetic predisposition (BRCA-1 or BRCA-2 mutation, HNPCC, strong family history).
    • Risk decreases with previous pregnancy, history of breastfeeding, OCPs, tubal ligation.
  • Findings
    • Presents with adnexal mass, abdominal distension, bowel obstruction, pleural effusion.
  • Diagnosis
    • Diagnose surgically.
    • Monitor progression by measuring CA-125 levels (not good for screening)
39
Q

Serous cystadenoma

  • Type of tumor
  • Definition
  • Findings
A
  • Type of tumor
    • Benign ovarian neoplasm
  • Definition
    • Most common ovarian neoplasm.
    • Often bilateral
  • Findings
    • Thin-walled, uni- or multilocular.
    • Lined with fallopian-like epithelium.
40
Q

Mucinous cystadenoma

  • Type of tumor
  • Definition
A
  • Type of tumor
    • Benign ovarian neoplasm
  • Definition
    • Multiloculated, large.
    • Lined by mucus-secreting epithelium [A].
41
Q

Endometrioma

  • Type of tumor
  • Definition
  • Findings
A
  • Type of tumor
    • Benign ovarian neoplasm
  • Definition
    • Mass arising from growth of ectopic endometrial tissue.
  • Findings
    • Complex mass on ultrasound.
    • Presents with pelvic pain, dysmenorrhea, dyspareunia.
42
Q

Mature cystic teratoma (dermoid cyst)

  • Type of tumor
  • Definition
  • Findings
A
  • Type of tumor
    • Benign ovarian neoplasm
  • Definition
    • Germ cell tumor, most common ovarian tumor in women 20–30 years old.
    • Can contain elements from all 3 germ layers
      • Teeth, hair, sebum [B] are common components.
  • Findings
    • Can present with pain 2° to ovarian enlargement or torsion.
    • Can also contain functional thyroid tissue and present as hyperthyroidism (struma ovarii) [C].
43
Q

Brenner tumor

  • Type of tumor
  • Findings
A
  • Type of tumor
    • Benign ovarian neoplasm
  • Findings
    • Looks like bladder.
    • Solid tumor that is pale yellow-tan in color and appears encapsulated.
    • “Coffee bean” nuclei on H&E stain.

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