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 –> increased FSH.
- Abnormal Leydig cell function –> decreased testosterone –> increased LH –> increased estrogen.
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).
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.
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.
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
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
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)
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).
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).
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).
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.
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
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
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]
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
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.
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.
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 –> 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 –> 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.
- Definition
- 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
- History of infertility
- Salpingitis (PID)
- Ruptured appendix
- Prior tubal surgery
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”).
- Can be found anywhere
- 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.
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.
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 –> increased free testosterone.
- Increased LH due to pituitary/hypothalamus dysfunction.
- Increased LH, increased FSH (LH:FSH, 3:1), increased testosterone, increased estrogen (from aromatization).
- Estrogen increases steroid hormone-binding globulin (SHBG) and decreases LH
- 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 –> 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
- Clomiphene citrate
- For endometrial protection
- Cyclic progesterones (antagonizes endometrial proliferation)
- For hirsutism, acne
40
Q
Mucinous cystadenoma
- Type of tumor
- Definition
A
- Type of tumor
- Benign ovarian neoplasm
- Definition
- Multiloculated, large.
- Lined by mucus-secreting epithelium [A].
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].
