Reproduction Flashcards
(257 cards)
1
Q
What is the difference between emission and ejaculation?
A
Emission: sperm travels from the testes to the prostatic urethra to mix with the seminal fluid coming from the ejaculatory duct
- Sympathetic nervous system
- Via the hypogastric nerve
Ejaculation: sperm and seminal fluid travel from the prostatic urethra to the outside world
- Sympathetic nervous system
- Via the pudendal nerve
2
Q
Name the testicular tumour.
- Yellow and mucinous
- Schiller-Duval bodies
- Aggressive
- Elevated AFP levels
- Most common testicular tumour in boys <3 years of age
A
Yolk sac (endodermal sinus) tumour
>> Analogous to ovarian yolk sac tumour
>> Schiller-Duval bodies resemble primitive glomeruli
3
Q
Name the testicular tumour.
- Painless
- Fried-egg appearance
- Increased placental AFP
- Most common testicular tumour overall
- Commonly in 3rd decade and never in infancy
A
Seminoma
4
Q
Name the testicular tumour.
- Painful
- Often mixed, rarely pure
- Elevated hCG and normal AFP levels
A
Embryonal carcinoma
5
Q
Name the testicular tumour.
- Multiple tissue types
- Elevated hCG levels
- Elevated AFP levels in 50%
A
Teratoma
>> Unlike in females, mature teratoma in adult males may be malignant; usually benign in children
6
Q
Name the testicular tumour.
- Disordered syncytiotrophoblastic and cytotrophoblastic elements
- Elevated hCG levels
- Hematogenous metastases to lung and brain
A
Choriocarcionma
7
Q
Name the testicular tumour.
- Reinke crystals
- Golden brown in colour
- Causes gynecomastic in men and precocious puberty in boys
A
Leydig cell tumour
>> Most common of testicular non-germ cell tumour
(Non-germ cell tumour)
8
Q
Name the testicular tumour.
- Most common testicular cancer in older men
- Aggressive
- Not a primary cancer
A
Testicular lymphoma
(Non-germ cell tumour)
9
Q
Name the testicular tumour.
- Estrogen production
- Gynecomastic in men
- Associated with Peutz-Jegher’s syndrome and Carney syndrome
A
Sertoli cell tumour
(Non-Germ Cell Tumour)
10
Q
What are three types of Bowen disease?
A
- Bowen disease
- Erythroplasia of Queyrat
- Bowenoid papulosis
11
Q
Describe and name the penile pathology.
A
Bowen disease
- Gray, solitary, crusty plaque on the penile shaft and scrotum
- 10% progresses to invasive squamous cell carcinoma
12
Q
Describe and name the penile pathology.
A
Erythroplakia of Queyrat
- Red, velvety plaques
- Usually involving the glans
- Premalignant lesion in situ for penile squamous cell carinoma
13
Q
Describe and name the penile pathology.
A
Bowenoid papulosis
- Multiple papular lesions
- Do not become invasive
- Typically in younger individuals
14
Q
What are the risk factors for squamous cell carcinoma of the penis? What are the premalignant in-situ lesions for the same cancer?
A
Risk factors for penile SCC
- HPV infection
- Lack of circumcision
Premalignant in-situ lesions
- Bowen disease
- Erythroplakia of Queyrat
- Bowenoid papulosis
15
Q
What is the mechanism of action of sildenafil?
A
Phosphodiesterase 5 inhibition
>> Increase cGMP
>> Smooth muscle relaxation in corpus cavernosum
>> Vasodilation
>> Erection
16
Q
What are the indications for sildenafil?
A
- Erectile dysfunction
- Raynaud’s phenomenon
- Primary pulmonary hypertension
17
Q
What are the side effects of PDE5 inhibitors (e.g. sildenafil)?
A
- Headache
- Flushing
- Dyspepsia
- Impaired blue-green colour visio
- Hypotension
18
Q
Name one important clinical contraindication for prescription of sildenafil.
A
Concurrent prescription/intake of nitrates
>> Concomittant intake of nitates and sildenafil can lead to life-threatening hypotension
19
Q
What drugs can cause priapism?
A
- PDE5-inhibitors (e.g. sildenafil)
- Anti-coagulants
- Anti-depressants
- Alpha-blockers
- Cocaine
20
Q
Describe and name the penile lesion.
A
Genital warts: Condyloma acuminatum
- Benign
- Caused by HPV-6 and HPV-11 mainly
21
Q
Describe and name the penile lesion.
A
Balanitis
- Inflammation of the glans penis
- 40% due to Candida
- More common in the uncircumcised and in diabetics
22
Q
What are the risk factors for balanitis?
A
- Uncircumcised
- Diabetes mellitus
23
Q
Which lobes of the prostate are affected in BPH and prostatic adenocarcinoma respectively? Which one is easier to detect via digital rectal examination?
A
BPH (benign prostatic hyperplasia): periurethral (middle and lateral) lobes
Prostatic adenocarcinoma: posterior lobe; easier to detect via DRE
24
Q
What are the symptoms of BPH?
A
- Increased urinary frequency (<q2h></q2h>- Urgency
- Nocturia (>2-3 times per night)
- Straining to void
- Intermittent and/or weak urine stream
- Incomplete voiding
25
What is the full name of BPH?
Benign prostatic **_hyperplasia_**
26
What is the management for BPH?
_Pharmacological treatment_
- Non-selective alpha-1 antagonists
\>\> Doxazosin
\>\> Terazosin
\>\> Prazosin
- Selective alpha-1A,1D antagonist: Tamsulosin
- 5a-reductase inhibitor: Finasteride, Dutasteride
_Surgical treatment_
27
What are some possible side effects of non-selective alpha-1 antagonists?
- Postural hypotension
- Dizziness
- Asthenia
- Fatigue
\>\> Tamsulosin, the selective alpha-1A,1D blocker, has no anti-hypertensive effects and thus avoids the postural hypotension seen in the use of other non-selective alpha-1 antagonists.
28
What are some possible side effects of finasteride (5a-reductase inhibitor)?
- Decreased libido
- Ejaculatory disorder
- Erectile dysfunction/impotence
29
What is the treatment for prostatic carcinoma?
- Flutamide (nonsteroidal androgen receptor antagonist)
- Resection
30
What is Peyronie's disease?
Angulation of the penis due to inflammation and fibrous tissue formation of tunica albuginea
31
What are the different types of prostatitis?
1. Acute bacterial
2. Chronic bacterial
3. Chronic abacterial: most common type
32
What are the possible organisms causing bacterial prostatitis?
Age \<35 years old: Chlamydia and Gonorrhea
Age \>35 years old: UTI bugs (KEEPS)
- Klebsiella
- E. coli
- Enterobacter
- Proteus
- Pseudomonas
- Serratia
- Staphylococcus saprophyticus
33
What are the structures that sperm and seminal fluid pass through during ejaculation?
**SEVEN UP**
- Seminiferous tubules
- Epididymis
- Vas deferens
- Ejaculatory duct
- (Nothing)
- Urethra
- Penis
34
What is the mechanism of action of flutamide?
Nonsteroidal competitive inhibitor of androgens at the testosterone receptor
\>\> For treatment of prostate carcinoma
35
What is the mechanism of action for the antiandrogenic effects of spironolactone?
- Inhibits steroid binding
- Inhibits 17a-hydroxylase (and thus sex steroid synthesis)
- Inhibits 17,20-desmolase (and thus steroid synthesis)
36
What is the mechanism of action for the antiandrogenic effects of ketoconazole?
Inhibits 17,20-desmolase and thus inhibits steroid synthesis
37
What are the indications for testosterone (or methyltestosterone) replacement?
- Hypogonadism
- Promote development of secondary sexual characteristics
- ER+ breast cancer
- Stimulate anabolism for recovery in burns or other injuries
38
What are the side effects of testosterone replacement?
- Females: Masculinization
Males: decreased intratesticular testosterone production \>\> gonadal atrophy
- Premature epiphyseal plate closure
- Increased LDL, decreased HDL -- poor lipid profile
39
What are the therapeutic actions of oral contraceptive pills (synthetic progestins + estrogen)?
- Suppresses ovulation: birth control
- Thickening of cervical mucus: prevent ascending infection and sperm
- Inhibits endometrial proliferation: decreases menstrual flow and cramps
- Regulates menses
- Decreases ectopic pregnancy (because decreases overall chance for pregnancy)
- Decreased risk for endometrial and ovarian cancer
- Decreases acne (by upregulation of SHBG \>\> sequestrates testosterone)
40
What are the side effects of oral contraceptive pills?
- Compliance: noncompliance can lead to pregnancy
- Hypercoagulability: contraindicated in --
\>\> Smokers \>35 years of age
\>\> Patients with a history of CVA/stroke/clots
\>\> Patients with a history of migraine with aura
- Hypertension
- Increased triglycerides
- GI problems/liver problems
- Mood changes
- ?Weight gain
41
What are the indications for estrogen replacement/supplementation (usually ethinyl estradiol)?
- Birth control (contraception)
- Menstrual regulation
- Hormone replacement therapy for postmenopausal women
- Hypogonadism/premature ovarian failure
- Men with androgen-dependent prostate cancer
42
What are the contraindications for estrogen therapy?
- ER+ breast cancer
- History of DVT/PE/clots
- Uncontrolled HTN
- Smoker \>35 years of age
- Migraine with aura
43
What are the indications for progestin therapy?
- Birth control
- Menstrual cycle control: stabilizes endometrial lining by decreasing growth and increasing vascularization of the endothelium
- Uterine protection with estrogen HRT (from endometrial cancer)
44
What is the average age for menopause?
51.4 years
\>\> Earlier in smokers
45
What is the definition of menopause?
Cessation of menstruation associated with decreased estrogen production due to age-linked ovarian follicular atresia
46
What is the main source of estrogen in postmenopausal women?
Peripheral conversion from androgens in fat cells
\>\> Postmenopausal women therefore have increased androgen levels, which can lead to hirsutim. Menopause is also associated with grossly increased FSH levels.
47
What is the treatment for menopausal hot flashes?
- Estrogen replacement therapy (HRT)
- SSRIs (selective serotonin reuptake inhibitors) - e.g. sertraline, fluoxetine, citalopram
- SNRIs (serotonin-norepinephrine reuptake inhibitors) - e.g. venlafaxine
- Clonidine (alpha-2 receptor antagonist)
- Gabapentin
- Herbal medications/vito-estrogens: soy isoflavones, red clover, black cohosh, vitamin E etc.
48
What are the indications for hormone replacement therapy?
- Menopausal hot flashes
- Vaginal atrophy
- Osteoporosis (bisphosphonates is first-line; estrogen inhibits osteoclastic activity)
49
What is vaginismus?
Spasm of the pelvic floor muscle that is generally made worse with touch and especially penetration, leading to vaginal pain
## Footnote
\>\> Variable severity
\>\> Can affect sexual function
50
What is vestibulitis?
Burning sensation at the opening (or the vestibule) of the vagina
## Footnote
- Most focally at the vestibular glands
- Primarily at the Bartholin glands (greater vestibular glands) at 5 and 7 o'clock
\>\> A prime example of allodynia -- neurological damage, trauma, deep-seeded bacterial infection etc.
51
What are some causes of vaginal pain? List 6.
- Trauma
- Infection
- Mucosal spasm
- Mucosal allodynia or hyperalgesia
\>\> Allodynia: pain from stimulus that doesn't normally provoke pain
\>\> Hyperalgesia: pain from stimulus that should normally provoke minimal pain
- Vaginismus
- Vestibulitis
52
What is the treatment for most cases of vaginal pain?
Desensitization
- Physiotherapy: massage, biotherapy etc.
- Topical lidocaine
- Treat infection if present
- Psychological treatment, esp. if associated with a history of sexual/physical abuse
53
Describe and name this lesion.
Sarcoma botryoides
## Footnote
- Rhabdomyosarcoma originating from the wall of the bladder or the vagina
- Usually in girls \<4 years of age
- Under microscope: spindle-shaped cells that are desmin positive
54
Where does cervical intraepithelial neoplasia (CIN) most commonly occur? Which types of HPV is it associated with? Which gene products are involved in the development of dysplasia?
- Commonly at the squamocolumnar junction of the transition zone (T-zone) between the ectocervix and the endocervix
- Associated with HPV-16 and HPV-18 (and also HPV-31)
- Gene products involved:
\>\> E6 -- inhibits p53 tumour suppressor gene
\>\> E7 -- inhibits Rb protein
55
What are the risk factors for cervical carcinoma or CIN?
- **Multiple sexual partners**
- Early sexual intercourse
- HIV infection
- STDs
- Smoking: decreases immune system, making you more susceptible to infection
56
What are the most commonly presenting complaint for CIN/cervical carcinoma?
**ASYMPTOMATIC!**
| (detected by pap smear -- screening for cervical cancer)
## Footnote
- Some may complain of intermenstrual/abnormal vaginal bleeding (esp. post-coital)
57
How does one stage cervical carcinoma?
* *Cervical cancer is clinically staged!**
- - Almost all other gynecological cancers are surgically staged EXCEPT cervical cancer as early cervical cancers do not necessarily need extensive surgery.
## Footnote
- Aided by pap smear +/- colposcopy +/- LEEP or cone biopsy etc.
- Spreads locally
- Lateral spread can cause compression onto the ureters, leading to renal failure
58
What are the common types of cervical carcinoma?
- Squamous cell carcinoma: ~90%
- Adenocarcinoma: ~10%
59
Where can endometriosis take place?
- **Ovary**: endometrioma ("chocolate cyst")
- Pelvis
\>\> Posterior cul-de-sac (Pouch of douglas)
\>\> Uterosacral ligament
\>\> Uterine surface
\>\> Fallopian tube
\>\> Posterior broad ligament
\>\> Bladder
- Peritoneum
- Intestines
60
What are the risk factors of endometrial hyperplasia?
**States of constant high levels of estrogen**
- Anovulatory cycles
- Polycystic ovarian syndrome (PCOS)
- Hormone replacement therapy
- Granulosa cell tumours (secretes estrogen)
61
What are the symptoms of endometrial hyperplasia?
- Menorrhagia or metrorrhagia after age 35
- **Post-menopausal** **vaginal bleeding**
\>\> Diagnosis by endometrial biopsy
62
What is the most common gynecological malignancy in the US?
Endometrial carcinoma
Peak incidence: 55-65 years
63
What are the risk factors for endometrial carcinoma?
- Prolonged exposure to unopposed estrogen
- Nulliparity
- Late menopause
- Obesity
- Hypertension
- Diabetes
* *HHONDA**
- Hypertension
- Hyperplasia
- Obesity
- Nulliparity
- Diabetes
- Anovulatory state
64
What are some of the classic locations for leiomyomas (fibroid)? Name 5.
- Subserosal
- Intramural (most common)
- Submucosal
- Cervical
- Broad ligament
65
What is the most common tumour in females?
Leiomyoma (Fibroids)
\>\> More common in blacks
\>\> Peak incidence: 20-40 years old
\>\> Estrogen senstiive: increases in size with pregnancy, and decreases with menopause
66
What are the possible complications of leiomyoma?
- Abnormal uterine bleeding
- Bulk symptoms: pelvic pressure and discomfort
- Pain when the fibroid's centre is necrotic
- Miscarriage
67
What is the treatment for fibroids/leiomyoma?
_Pharmacological treatment_
- OCPs
- Continuous GnRH analog: leuprolide
_Less invasive surgical treatment_
- Embolization
- Ablation
_Surgical treatment_
- Myomectomy
- Hysterectomy: definitive treatment
68
What are the histological features of leiomyoma?
_Whorled_ pattern of _smooth muscle_ bundles with _well-demarcated_ borders
+ for desmin
69
What are the indications for use of leuprolide?
- Endometriosis
- Uterine fibroids
- Precocious puberty
- Infertility
- Prostate cancer (use with flutamide)
70
What are the most common gynecological cancers in the US? List them in order.
1. Endometrial cancer (4th most common cancer overall in the US)
2. Ovarian cancer (5th most common cancer overall in the US) -- poor prognosis
3. Cervical cancer (most common gynecological cancer in the world -- not in developed countries due to pap smear screening)
71
What is the main indication for clomiphene?
Infertility due to anovulation (e.g. clomiphene)
72
What are the possible side effects for clomiphene?
- Hot flashes
- Breast discomfort
- GI discomfort
- Vision changes
- Ovarian enlargement: pain and torsion
- Multiple gestation pregnancy
73
What is the mechanism of action for clomiphene?
- Partial agonist for estrogen receptors in the hypothalamus
- Relative decreased effect on negative feedback compared to endogenous estrogen
- Increased LH and FSH levels
- Stimulate ovulation
74
What are the treatment options for polycystic ovarian syndrome (PCOS)?
- Weight loss
- Treat insulin resistance: Metformin
- Spironolactone (for hirsuitism -- anti-androgenic effects)
- Progesterone
\>\> Protection against endometrial hyperplasia
\>\> Negative feedback to hypothalamus to decrease LH
\>\> Increases SHBG to decrease free hormones
- Ovarian induction for infertility:
\>\> Clomiphene
\>\> Letrozole
\>\> Pulsatile leuprolide
\>\> Ovarian drilling
75
What is the diagnostic criteria for PCOS?
Any 2 of the 3 following:
1. Hyperandrogenism -- e.g. hirsutism (NOT VIRILIZATION!)
2. Anovulation/oligo-ovulation
3. Polycystic ovaries (string-of-pearls appearance) on USG
Other features
- Insulin resistance
- Obesity
76
What are the differences between hirsutism and virilization?
_Hirsutism_
- Male pattern hair growth
- Acne
- Increased muscle mass
_Virilization_
- Male pattern *balding*
- Deepening of the voice (often irreversible)
- Clitoromegaly
77
Name some causes of anovulation.
_Physiological_
- First few years after menarche
- Pregnancy
- Menopause
_Pathological_
- Endocrine
\>\> Hyper/hypothyroidism
\>\> Hyperprolactinemia
\>\> Cushing's syndrome
\>\> Adrenal insufficiency
- HPO axis
\>\> Premature ovarian failure
\>\> Stress
\>\> Anxiety
\>\> Anorexia
78
What are some pathologies characterized by psammomma bodies? Name 4.
**PS**a**M**o**M**a Bodies
## Footnote
- Papillary thyroid carcinoma
- Serous cystadenocarcinoma of the ovary
- Mesothelioma
- Meningioma
79
Name the ovarian lesion.
- Endometriosis in the ovary
- "Chocolate cyst"
Endometrioid cyst/endometrioma
80
Name the ovarian lesion.
- Often bilateral
- Due to luteinization and hypertrophy of the theca interna layer of ovary
- Associated with: molar pregnancy, multiple gestation, ovarian hyperstimulation syndrome and choriocarcinoma
Theca-lutein cyst
81
Name the ovarian lesion.
- Psammomma bodies
- The most common malignant ovarian tumour
Serous cystadenocarcinoma
82
Name the ovarian lesion.
- Multiloculated
- Large
- Unilateral
- Columnar mucus-secreting epithelium that look like intestinal cells
Mucinous cystadenoma
83
Name the ovarian lesion.
- Pseudomyxoma peritonei \>\> intraperitoneal accummulation of mucinous material
- Associated with appendiceal tumours
Mucinous cystadenocarcinoma
84
Name the ovarian lesion.
- The most common ovarian tumour
- 20% bilateral
- Uniloculated
- Lined with fallopian-like ciliated epithelium
Serous cystadenoma
85
Name the ovarian lesion.
- 15-20% coexist with endometrial carcinoma
Endometrioid tumour/endometrioma
86
Name the ovarian lesion.
- Unilateral, solid and encapsulated
- Looks like transitional epithelium of the bladder
- Coffee-bean nuclei on H&E stain
Brenner tumour
87
Name the ovarian lesion.
- Elevated hCG and LDH levels
- Equivalent to the male seminoma
- Sheets of "fried-egg" cells
- Associated with Turner syndrome
Dysgerminoma
88
Name the ovarian lesion.
- Immature neuroectoderm
- Malignant in women
Immature teratoma
89
Name the ovarian lesion.
- The most common form of ovarian germ cell tumour
- Elements from all 3 germ cell layers
- Benign in women
Mature teratoma
90
Name the ovarian lesion.
- Schiller-Duval bodies
- Increased AFP levels
- Malignant
- Yellow, friable solid mass
- Most common tumour in male infants (if found in testes instead)
Yolk sac (endodermal sinus) tumour
91
Name the ovarian lesion.
- Malignant
- Elevated hCG levels
- Tendency of hematogenous spread to lungs
- Very response to chemotherapy
- Derived with trophoblastic tissue (cyto- and syncytiotrophoblasts)
Choriocarcinoma
92
Name the ovarian lesion.
- Estrogen-producing
- Leads to precocious puberty and irregular per vaginal bleeding
- Call-Exner bodies (similar to primordial follicles)
Granulosa-theca cell tumour
93
Name the lesion.
- Meigs syndrome: along with hydrothorax (pleural effusion) and ascites
- Most common ovarian stromal tumour
- Bundles of spindle-shaped fibroblasts
Fibroma
94
What is placenta previa?
Attachment of the placenta to the lower uterine segment, leading to a risk for antepartum hemorrhage
95
What are the 4 types of placenta previa?
1. Complete
2. Partial
3. Marginal
4. Low-lying
96
What are the common presenting symptoms of placenta previa?
Painless vaginal bleeding of maternal blood
| (Alkali denaturation/Apt-Downey test negative)
97
What are the risk factors for placenta previa?
- Multiple gestation
- Extremes of maternal age
- History of placenta previa
- History of previous C/S, D&C, myomectomy and other uterine surgeries
- Smoking and alcohol use during pregnancy
98
What is the management for placenta previa?
Cesarean section delivery
99
What is vasa previa?
Fetal blood vessels covering the cervical os
100
What are the presenting symptoms of vasa previa?
Painless vaginal bleeding of *_fetal_* blood
Can lead to fetal death: fetal hemorrhage can kill within minutes!
| (Alkali denaturation/Apt-Downey test positive)
101
What is placenta accreta?
Defective decidual layer leading to inability for the placenta to detach after delivery \>\> severe post-partum hemorrhage \>\> life-threatening for mother
102
What are the risk factors for placenta accreta?
- Prior C-section
- Previous placenta previa
- Advanced maternal age
- Multiparity
- History of previous myomectomy or other uterine surgeries (aggressive curettage leading to Asherman syndrome, thermal ablation and uterine artery embolization)
- Inflammation of the uterus/pelvis
103
What are the three types of placenta accreta?
1. Placenta accreta: attaches but does not penetrate the myometrium
2. Placenta increta: penetrates _into_ the myometrium
3. Placenta percreta: penetrates _through_ the myometrium and has the potential to attach to neighbouring structures such as the rectum and bladder
104
What is the definitive treatment for placenta accreta?
Hysterectomy
## Footnote
Adjunctive treatment:
- Balloon catheter embolization of uterine arteries
- Methotrexate
\>\> Leave the placenta in situ as removal of the placenta is assocaitedw tih significant hemorrhagic morbidity.
105
What is placenta abruption/abruptio placentae?
Premature separation of placenta from the uterine wall before the delivery of the infant
106
What are the risk factors for placenta abruption?
_Maternal causes_
- Any direct abdominal trauma
\>\> Motor vehicle accident
\>\> Spousal abuse
\>\> Fall
- Hypertension
- Pre-eclampsia
- Cocaine abuse
- Smoking
- Blood-clotting disorders
_Obstetrical causes_
- Premature rupture of the membranes
- Multiple pregnancy
- Previous abruptio placentae
107
What are the presenting symptoms of placenta abruption?
- Painful abrupt per vaginal bleeding associated with contractions/rapid labour induction
- Bleeding can be concealed or apparent
- Usually in the third trimester
- Life-threatening for both the mother and the fetus
\>\> **Kleihauer-Betke test** is useful to determine the degree of maternofetal hemorrhage - looks into the number of fetal RBCs in the mother's blood
108
What are the possible complications for placental abruption?
_Maternal_
- Shock and multiple organ failure
- Severe hemorrhage
- Disseminated intravascular coagulopathy (DIC)
_Fetal_
- Fetal distress
- Premature birth
- Fetal death
109
What are the possible causes of polyhydramnios?
_Maternal causes_
- Maternal diabetes: fetal hyperglycemia and polyuria
- Maternal cardiac problems
- Maternal kidney problems
_Fetal causes_
- Esophageal/duodenal atresia
- Anencephaly
- Genetic causes: Down syndrome, Edwards syndrome
- Fetal anemia (see obstetric causes)
_Obstetric causes_
- TORCH intrauterine infections
- Rh-isoimmunization (fetal hydrops)
- Multiple gestation: twin-twin transfusion syndrome
110
What is the definition for polyhydramnios?
\>1.5-2L of amniotic fluid
111
What is the definition of oligohydramnios?
\<0.5L of amniotic fluid
112
What are the possible causes of oligohydramnios?
_Maternal causes_
- Placental insufficiency (IUGR)
- Drugs: PG inhibitors, ACE inhibitors
_Fetal causes_
- Bilateral renal agenesis
- Posterior urethral valve in males
- Chromosomal anomalies
_Obstetric causes_
- Intrauterine infections
- Premature rupture of membranes
113
What is the Potter sequence?
* *POTTER** sequence (usually occurs when there is significant oligohydramnios \<20 weeks)
- **P**ulmonary hypoplasia
- **O**ligohydramnios
- **T**wisted skin
- **T**wisted face
- **E**xtremities abnormalities
- **R**enal agenesis
\>\> Oligohydramnios
\>\> Facial and limb deformities
\>\> Pulmonary hypoplasia
114
What is the difference between chronic and gestational hypertension?
Chronic hypertension: BP \>140/90mmHg \<20 weeks
Gestational hypertension: BP \>140/90mmHg \>20 weeks
115
What are the antihypertensives safe for pregnancy?
- Alpha-methyldopa
- Labetalol
- Hydralazine
- Nifedipine
116
What are the signs of magnesium toxicity?
- Decreased deep tendon reflexes
- Decreased pulmonary drive
- Pulmonary edema
- Altered mental status
- Cardiac conduction defects
117
What are some complications of preeclampsia?
_Maternal complications_
- Severe hypertension
\>\> HELLP syndrome
\>\> Stroke: intracranial hemorrhage
\>\> Pulmonary edema/ARDS
\>\> Cerebral edema: headache, blurred vision, altered mental status and hyperreflexia
\>\> RUQ pain: liver necrosis and subcapsular bleed
\>\> Edema of the face and upper extremities
- Renal failure
- Coagulopathy
- Eclampsia
_Obstetric complications_
- Placental abruption
- Uteroplacental insufficiency
118
What are the risk factors for preeclampsia?
- History of preeclampsia
- First pregnancy/new paternity
- Advanced maternal age
- Long interval between pregnancy
- Multiple gestation
- History of certain medical conditions
\>\> Pre-existing hypertension
\>\> Diabetes
\>\> Chronic renal disease
\>\> Autoimmune disease (e.g. lupus, antiphospholipid syndrome)
119
What is HELLP Syndrome?
**HELLP** Syndrome
## Footnote
- **H**emolysis
- **E**levated **L**iver Enzymes
- **L**ow **P**latelet Count
\>\> An anemic pregnant lady with easy brusing and petechiae presenting with RUQ pain.
120
What does hypertension in a pregnant woman \<20 weeks of gestation suggest?
- Chronic hypertension
- Molar pregnancy
121
What is the treatment for preeclampsia?
- BP control with antihypertensives
\>\> Alpha-methyldopa
\>\> Labetalol
\>\> Hydralazine
\>\> Nifedipine
- IV magnesium as prophylaxis against seizures
- Delivery: 34 weeks if severe and 37 weeks if mild
\>\> Delivery is the cure.
\>\> For HELLP syndrome or any cases with complications of PET, deliver immediately.
122
When do we screen for gestational diabetes/diabetes in pregnancy?
24-28 weeks of gestation
hPL overstimulation leads to increased insulin resistance of the mother \>\> hPL is not high enough to induce DM early in the pregnancy
123
How does one diagnose diabetes in pregnancy?
3-hour 100-g oral glucose tolerance test: Any two of the following four criteria:
## Footnote
1. Fasting \>105mg/dL
2. 1 hour \>190mg/dL
3. 2 hour \>165mg/dL
4. 3 hour \>145mg/dL
124
What are the complications of diabetes in pregnancy?
_Maternal complications_
- Long-term Type II diabetes after pregnancy
- Microvascular and macrovascular complications
_Fetal complications_
- Macrosomia
- Stillbirth
- Neonatal hypoglycemia due to hyperinsulinemia
_Obstetric complications_
- Increased risk for the need of Cesarean section
- Increased risk of birth trauma
125
What are some fetal anomalies commonly associated with pre-existing maternal Type I/II DM?
- Congenital heart defects
- Neural tube defects
- **Caudal regression syndrome**
126
What are the risk factors for ectopic pregnancy?
- History of infertility
- History of any tubal surgery
- Previous PID (salpingitis)
- Endometriosis
- Previous ruptured appendicitis/any pelvic surgery
127
What is the most common location for an ectopic pregnancy?
The ampulla of the fallopian tube
\>\> Can cause tubal rupture and bleeding
\>\> Potentially life-threatening
128
What is the typical presentation of an ectopic pregnancy?
- Amenorrhea
- Postive hCG but lower-than-expected for date
- Abdominal pain
- Sometimes per vaginal bleeding
\>\> Usually in the first trimester at 6-7 weeks of gestation
129
What is the treatment for ectopic pregnancy?
- Methotrexate
- Laparoscopy
- D&C to look for villi
130
Name some common causes of recurrent miscarriage. List 6.
_Maternal factors_
- Poor maternal health
- Autoimmune/clotting problems
- Uterine abnormalities
- Low progesterone
_Fetal factors_
- Chromosomal abnormalities
- Infections
131
Name 6 Category X drugs.
- Methotrexate: neural tube defects, spontanous abortions
- Statins: CNS and limb anomalies
- Warfarin: facial/limb/CNS anomalies, spontaneous abortions
- Isotretinoin: spontaneous abortions, birth defects
- Diethylstilbestrol: clear cell carcinoma of the vagina
- Thalidomide: phocomelia
132
What are the categories of OB-safe medications?
Cat. A: established safety in human studies
Cat. B: presumed safety from animal studies
Cat C: no human or animal studies suggesting adverse effect -- uncertain safety
Cat. D: known adverse effect but benefit outweighs risk in certain occassionas
Cat. X: contraindicated; risk clearly outweighs benefit
133
What are some drugs used for tocolysis?
TRINMmmmm down the muscle contractions.
- Terbutaline
- Ritodrine
- Indomethacin
- Nifedipine
- Magnesium sulfate
134
What are some drugs used for labour induction/promotion?
- PGE2 analogue: dinoprostone
- PGE1 analogue: misoprostal
- Oxytocin (syntocinon)
135
What are the clinical features of Fragile X syndrome?
- **Intellectual disability**
- **Post-pubertal macro-orchidism**
- Long face with large jaw
- Large everted ears
- Autism
- Mitral valve prolapse
136
What are the top 3 causes for intellectual disability in the U.S.?
1. Fetal alcohol syndrome
2. Down syndrome
3. Fragile X syndrome
137
What is the genetic pathophysiology of Fragile X syndrome?
**X-linked trinucleotide repeat (CGG)n disorder** affecting the methylation and expression of the FMR1 gene, and thus leading to defective FMRP, which is a cytoplasmic protein found the in the brain and testes
138
What are the Cs of Huntington's disease?
- **C**horea
- **C**ognitive decline
- **C**audate atrophy
- **C**AG repeats
- **C**hromosome **C**uatro (chromosome 4)
- **C**uarenta (presents at 40 years)
- Decreased acetyl**c**holine and GABA levels
139
Which genes are involved in MEN-1, MEN-2A and MEN-2B?
MEN-1 = MEN-1 gene
MEN-2A = RET gene
MEN-2B = RET gene
140
What tumours are associated with MEN-1 syndrome?
**The 3 Ps**
## Footnote
- **P**ituitary adenomas
- **P**arathyroid adenomas
- **P**ancreatic tumours
141
What tumours are associated with the MEN-2A syndrome?
**MPP**
## Footnote
- **M**edullary thyroid carcinoma
- **P**arathyroid adenoma
- **P**haeochromocytoma
142
What tumours are associated with the MEN-2B syndrome?
**MMP**
## Footnote
- **M**edullary thyroid carcinoma
- **M**ucosal tumours
- **P**haeochromocytoma
143
What is the mode of inheritance for MEN (multiple endocrine neoplasia) syndromes?
Autosomal dominant
144
Which gene is affected in Marfan syndrome?
Fibrillin-1 gene
145
What are some clinical features of Marfan syndrome?
_Skeleton and Skin_
- Tall stature
- Thin and long extremities
- Hypermobility of joints
- Pectus excavatum
- Arachnodactyly
_Heart_
- Mitral valve prolapse
- Cystic medial necrosis of the aorta: aortic regurgitation, aortic aneurym, aortic dissection
_Eye_
- Lens subluxation
146
What is the mode of inheritance of Marfan syndrome?
Autosomal dominant
147
What are some clinical features of neurofibromatosis type 1?
**CAFE SPOT**
## Footnote
- **C**afe au lait spots
- **A**xillary freckling
- **F**ibromatosus
- **E**ye: Lisch nodules
- **S**keletal deformities: leg bowing, scoliosis
- **P**ositive family history
- **O**ptic **T**umour (Glioma)
148
What are some clinical features of tuberous sclerosis?
**HAMARTOMAS**
## Footnote
- **H**armatomas (cortical and retinal)
- **A**denoma sebaceum
- **M**itral regurgitation
- **A**sh-leaf spots
- **R**habdomyoma (cardiac)
- **T**uberous sclerosis
- **Au**tosomal d**o**minant
- **M**ental retardation
- **A**ngiomyolipoma of the kidney, **A**strocytoma
- **S**eizures
- **S**hagreen patches
_Cutaneous_
- Adenoma sebaceum
- Ash-leaf spots
- Shagreen patches
_Associated tumours_
- Cortical and retinal hamartomas
- Cardiac rhabdomyoma
- Renal angiomyolipoma
- Astrocytoma
_Neurological_
- Mental retardation
- Seizures
149
What is the mode of inheritance of neurofibromatosus type 1?
Autosomal dominant
150
What is the mode of inheritance of neurofibromatosis type II?
Autosomal dominant
151
What is the mode of inheritance of tuberous sclerosis?
Autosomal dominant
- Variable presentation
- Incomplete penetrance
152
What is the gene associated with von Hippel-Lindau syndrome?
VHL gene in chromosome 3
153
What are the tumours associated with von Hippel-Lindau syndrome?
- Hemangioblastomas
\>\> Retina
\>\> Cerebellum
\>\> Medulla
- Bilateral renal cell carcinoma
- Phaeochromocytoma
154
Name four trinucleotide repeat disorders.
1. Fragile X syndrome (CGG)
2. Huntington disease (CAG)
3. Myotonic dystrophy
4. Friedreich's ataxia
155
What is the underlying genetic cause of cystic fibrosis?
Autosomal recessive inheritance of a defect in the **CFTR** gene on **chromosome 7**, commonly due to a deletion of _Phe508_.
## Footnote
\>\> The most common lethal genetic disease in Caucasian population
\>\> CFTR (cystic fibrosis transmembrane regulator) encodes for an **ATP-gated Cl channel** that secretes Cl into the lungs, GI tract and pancreatic ducts, and reabsorbs Cl in the sweat glands
156
What is the pathophysiology of cystic fibrosis?
- **CFTR** gene mutation on chromosome **7**
- Decreased Cl- **secretion** into airways, pancreatic ducts and GI tract \>\> decreased Na+ and thus H2O secretion \>\> thick mucus production, esp. in the lungs and pancreatic ducts
- Decreased Cl- **reabsorption** into sweat glands \>\> decreased Na+ reabsorption \>\> salty sweat (*_positive sweat test_*)
157
How do we diagnose cystic fibrosis?
**_Chloride sweat test_: Increased Cl- concentration of _\>60mEq/L_ in sweat**
## Footnote
- Contraction alkalosis
- Hypokalemia
\>\> ECF H2O and Na+ losses
\>\> Concomittant renal K+ and H+ wasting
158
What are the complications of cystic fibrosis?
_Respiratory_
- *Recurrent pulmonary infections*, especially _Pseudomonas_ (cystic fibrosis is one of the few indications for fluoroquinolone use in children)
- *Chronic bronchitis*: periods of daily productive cough for 3 consecutive months for at least 2 consecutive years
- *Bronchiectasis*
- *Nasal polyps*
_Gastrointestinal_
- *Pancreatic insufficiency*
- *Meconium ileus in newborns*
- *Fat-soluble vitamin (A, D, E, K) deficiency* (leading to failure to thrive)
- Malabsorption
- Steatorrhea
_Genitourinary_
- *Infertility in males* (from absence of vas deferens and sperm)
159
What is the management for cystic fibrosis?
_Treat complications_
- Antibiotics (fluoroquinolones!) for pulmonary infections
- Pancreatic enzyme supplements for pancreatic insufficiency
- Fat-soluble vitamin supplements for malabsorption, steatorrhea and deficiency
_Treat underlying pathophysiology_
- **N-acetylcysteine** to loosen mucus plugs
- **Dornase alta** (DNAase) to clear leukocytic debris
160
Which enzyme is defective in Fabry disease?
**a-galactosidase A**
Accummulated substrate: ceramide trihexoside
161
Which enzyme is deficiency in Gaucher's disease?
**Glucocerebrosidase**
Accummulated substrate: glucocerebroside
162
Which enzyme is defective in Niemann-Pick disease?
**Sphingomyelinase**
Accummulated substrate: sphingomyelin
163
Which enzyme is defective in Tay-Sachs disease?
**Hexosaminidase A**
Accummulated substrate: GM2 ganglioside
164
Which enzyme is defective in Krabbe disease?
**Galactocerebrosidase**
Accummulated substrate: galactocerebroside, psychosine
165
Which enzyme is defective in metachromatic leukodystrophy?
**Arylsulfatase A**
Accummulated substrate: cerebroside sulfate
166
What are the presenting signs and symptoms of Fabry disease?
- Pain
\>\> Peripheral neuropathy of hands and feet
\>\> Ischemia (lipid accummulation in the vessels of the GI tract)
- Renal failure
- Cardiomyopathy
- Hypertension
- Angiokeratomas: painless papules found in lower abdomen, buttocks and groin
167
What is the mode of inheritance of Fabry disease?
X-linked recessive
168
What disease is the most common lysosomal storage disorder?
Gaucher disease
169
What is the mode of inheritance of Gaucher disease?
Autosomal recessive
170
What are the presenting signs and symptoms of Gaucher disease?
- Hepatosplenomegaly
- Thrombocytopenia
- Anemia
- Fatigue
- Painful bony lesions
171
What is the characteristic histological finding for Gaucher disease?
**Gaucher cells**
\>\> Lipid-laden macrophages
\>\> blue-staining fibrils that resemble crumped tissue paper
172
What is the mode of inheritance of Niemann-Pick disease?
Autosomal recessive
173
What are the presenting features of Niemann-Pick disease?
- Accummulation of sphingomyelin particularly in the cerebellum
\>\> Ataxia
\>\> Dysarthria
\>\> Dysphagia
\>\> Gradual worsening of intellectual functioning
- Hepatosplenomegaly
- Thrombocytopenia
- Cherry red spot on macula
174
What is the characteristic histologic feature of Niemann-Pick disease?
**Foam cells**
\>\> Lipid-laden macrophages
\>\> Numerous lipid-containing vacuoles in the cytoplasm
175
What is the mode of inheritance of Tay-Sachs disease?
Autosomal recessive
176
What are the presenting signs and symptoms of Tay-Sachs disease?
Infantile type: worsening mental and physical activities at around 6 months of age, and death by age 4 years
- Progressive neurodegeneration
- Cherry red spot on macula
- **No hepatosplenomegaly** (VS. Niemann-Pick disease)
177
What is the characteristic histologic feature of Tay-Sachs disease?
Lysosomes with onion skin
178
What is the mode of inheritance of Krabbe disease?
Autosomal recessive
179
What are the presenting signs and symtpoms of Krabbe disease?
Krabbe disease affects _myelin sheaths_
## Footnote
- Peripheral neuropathy
- Seizures
- Optic atrophy
- Weakness
- Developmental delay
Natural course of disease:
\>\> Symptoms begin at 3-6 months
\>\> Death usually by 2 years of age
180
What is the mode of inheritance of metachromatic leukodystrophy?
Autosomal recessive
181
What are the presenting signs and symptoms of metachromatic leukodystrophy?
Affects myelin sheath (like Krabbe disease)
## Footnote
- Muscle wasting
- Weakness
- Ataxia
- Dementia
- Progressive vision loss
Clinical course
\>\> Onset usually at or beyond 1 year of age
\>\> In Krabbe disease, onset is usually at 3-6 months of age, and death usually occurs within 2 years of life.
182
What is the characteristic histological feature of Krabbe disease?
**Globoid cells**
\>\> Large, multinucleated, PAS (+) epithelioid cells with abundant cytoplasm and eccentric pale nuclei
\>\> Crystalline needle-like inclusions corresponding to globoid material can be seen under the electron microscope
183
What is the mode of inheritance of Hurler syndrome?
Autosomal recessive
184
Which enzyme is deficient in Hunter syndrome?
Iduronate sulfatase
185
Which enzyme is deficient in Hurler syndrome?
a-L-iduronidase
186
What are the presenting signs and symptoms of Hurler syndrome?
- Short stature
- Coarse facial features
\>\> "Gargoylism"
- Intellectual disability
- Developmental delay
- Airway obstruction
- Hepatosplenomegaly
- **Corneal clouding**
\>\> Onset at ~6 months of age
187
What is the mode of inheritance of Hunter syndrome?
X-linked Recessive
188
What are the presenting signs and symptoms of Hunter syndrome?
- Mild form of Hurler syndrome
\>\> Short stature and coarse facial features: gargoylism
\>\> Intellectual disability
\>\> Developmental delay
\>\> Airway obstruction
\>\> Hepatosplenomegaly
- **Aggressive behaviour**
- **NO corneal clouding**
\>\> Onset at 1-2 years of age
189
What is the treatment for Gaucher disease?
Recombinant glucocerebrosidase
190
Which genetic disorders are associated with cherry red spots on the macula?
- Tay Sachs Disease
- Niemann-Pick Disease
191
Name the genetic disorder and its mode of inheritance.
- Optic Atrophy
- Myelin Sheath Involvement
- Galactocerebrosidase Deficiency
Krabbe Disease
\>\> Autosomal recessive
192
Name the genetic disorder and its mode of inheritance.
- Alpha-Galactosidase deficiency
- Angiokeratomas
- Renal failure
Fabry Disease
\>\> X-linked recessive
193
Name the genetic disorder and its mode of inheritance.
- Alpha-L-iduronidase deficiency
- Corneal clouding
- Dwarfism
Hurler syndrome
\>\> Autosomal recessive
194
Name the genetic disease and its mode of inheritance.
- Glucocerebrosidase Deficiency
- Macrophages with cytoplasmic fibrils
- Thrombocytopenia
Gaucher disease (most common lysosomal storage disease)
\>\> Autosomal recessive
195
Name the genetic disorder and its mode of inheritance.
- Cherry Red Spot on Macula
- No Hepatosplenomegaly
- Hexosaminidase A Deficiency
Tay-Sachs Disease
\>\> Autosomal recessive
196
Name the genetic disorder and its mode of inheritance.
- Iduronate sulfatases deficiency
- No corneal clouding
- Aggressive behaviour
Hunter syndrome
\>\> X-linked recessive
197
Name the genetic disease and its mode of inheritance.
- Arylsulfatase deficiency
- Similar to Krabbe disease
- Progressive vision loss and dementia
Metachromatic leukodystrophy
\>\> Autosomal recessive
198
Name the genetic disease and its mode of inheritance.
- Sphingomyelinase deficiency
- Foam cells
- Cherry red spots on macula
Niemann-Pick Disease
\>\> Autosomal recessive
199
Name 11 X-linked recessive disorders.
**O**blivious **F**emale **W**ill **G**ive **H**er **B**oys **H**er X-**L**inked **D**isorders.
## Footnote
- **O**cular albinism
- **F**abry disease
- **W**iskott-Aldrich disease
- **G**6PD deficiency
- **H**unter syndrome
- **B**ruton agammaglobulinemia
- **H**emophilia A
- Hemophilia B
- **L**esch-Nyhan syndrome
- **D**uchenne muscular dystrophy
- Becker muscular dystrophy
200
Name some autosomal dominant diseases.
- Autosomal dominant polycystic kidney disease
- Familial adenomatous polyposis
- Familial hypercholesterolemia
- von Recklinghausen disease (neurofibromatosis type I)
- von Hippel Lindau disease (hemangioblastomas, B/L RCC, phaeochromocytoma)
- Hereditary spherocytosis
- Huntington disease
- Marfan syndrome
201
Name some autosomal recessive diseases.
- Autosomal recessive (infantile) polycystic kidney disease (ARPKD)
- General albinism
- Cystic fibrosis
- Sickle cell disease
- Thalassemias
- Glycogen storage diseases
- Mucopolysaccharidoses
- Sphingolipidoses
- Phenylketonuria
- Hemochromatosis
202
What is the most common causative organism in acute mastitis? What is the most important risk factor for acute mastitis?
- Staphylococcus aureus
- Breastfeeding: bacterial infection through cracks in the nipple
203
What is the management for acute mastitis?
- Dicloxacillin
- Continue breastfeeding
- If a breast abscess is suspected or present: incision and drainage (fluctuant mass)
204
What are some causes for gynecomastia?
_Physiological/Transient_
- Infants
- Puberty
- Elderly
_Pathological_
- Testicular tumours
- Liver cirrhosis
- Klinefelter syndrome
_Drug-induced_: STACKED
- **S**pironolactone
- **T**HC (marijuana)
- **A**lcohol (esp. chronic use)
- **C**imetidine
- **K**etoconazole
- **E**strogens
- **D**igoxin
OR **S**ome **Dope** **D**rugs **E**asily **C**reate **A**wkward **H**airy **DD** **K**nockers.
- **S**pironolactone
- **Dope**: marijuana
- **D**igoxin
- **E**strogens
- **C**imetidine
- **A**lcohol (esp. chronic use)
- **H**eroin
- **D**opamine **D**2 antagonists
- **K**etoconazole
205
Name 3 benign breast tumours.
1. Fibroadenoma (most common breast tumour \<35 years, small)
2. Intraductal papilloma (bloody nipple discharge)
3. Phyllodes tumour (~60 years, large, leaf-like projections)
206
Name the breast lesion.
- Hyperplasia of the breast stroma
- Non-proliferative benign breast changes
Fibrosis
207
Name the breast lesion.
- Blue dome
- Non-proliferative benign breast changes
Cystic changes
208
Name the breast lesion.
- Increased glandular tissue
- Intralobular fibrosis
- Proliferative benign breast changes
Sclerosing adenosis
209
Name the breast lesion.
- Increased epithelial layers
- Proliferative benign breast changes
Epithelial hyperplasia
210
Name the breast lesion.
- Looks similar to fat necrosis
- Scar with irregular shape
- No history of breast surgery or trauma
- Can look like cancer
Complex sclerosing lesion/radial scar
211
Name the breast lesion.
- **Small**, mobile, firm mass with sharp edges
- Most common breast tumour in women \<35 years of age
- Increased size and tenderness with increased estrogen
- NOT a precursor lesion for breast cancer
Fibroadenoma
212
Name the breast lesion.
- Associated with serous or bloody nipple discharge
- Benign breast tumour
- Located typically beneath the areola
- Grows in lactiferous ducts
- Slight increase in risk for carcinoma
Intraductal papilloma
213
Name the breast lesion.
- Most common in the 6th decade
- Leaf-like projections
- **Large** bulky mass of connective tissue and cysts
- Some may become malignant
Phyllodes tumour
214
What is the most common cancer in women in the U.S?
Breast cancer
215
What is the most common cause of cancer death in women in the U.S?
Lung cancer
Breast cancer is the *_second_* most common cause of cancer death in women in the U.S.
216
What is the most common location of breast cancer?
Upper outer quadrant
217
What is the most common cause of breast lumps in women aged 25-50 years in the U.S?
Fibrocystic changes of the breast/nonproliferative benign breast changes
218
What is the most important prognostic factor in breast cancer?
Axillary lymph node involvement at the time of diagnosis
219
What are the risk factors for breast cancer?
- _Increased estrogen exposure_
\>\> Early menarche
\>\> Late menopause
\>\> Nulliparity/advanced age at first life birth/few pregnancies
\>\> Less time in breastfeeding
- Obesity: increased peripheral conversion of androgen to estrogen in adipose tissue
- Family history of breast cancer
- BRCA-1 and BRCA-2 mutations
- Family or personal history of HNPCC
220
What are the receptors commonly found in breast cancer?
- Estrogen receptors
- Progesterone receptors
- HER-2/ neu (c-erbB2) receptors
\>\> Beneficial for treatment with target chemotherapy
221
What are the different types of DCIS (ductal carcinoma in situ)?
- Comedocarcinoma (characterized by caseous necrosis)
- Solid
- Cribiform
- Papillary
- Micropapillary
222
What is the characteristic histological feature of lobular carcinoma in situ of the breast (LCIS)?
**Signet ring cell**
\>\> Increased mucinous material in the cytoplasm pushes the nucleus out into the periphery of the cell
223
What are the features of LCIS of the breast?
- Signet ring cells
- Almost always ER +ve and PR +ve
- Not exactly a precursor lesion: increased the risk for lobular carcinoma development of BOTH breasts and all areas of the breast
- Treat with masectomy (unilateral VS. bilateral) or tamoxifen (ER target therapy)
224
What pathologies are commonly characterized by the presence of signet ring cells under microscopy?
- Lobular carcinoma in situ (LCIS)/invasive lobular carcinoma of the breast
- Krukenburg tumours of the ovaries from _gastric adenocarcinoma_ metastasis
- Gastric adenocarcinoma itself
225
What is the most common form of invasive breast carcinoma?
Invasive ductal carcinoma
226
What are the features of invasive ductal carcinoma?
- Preceded by ductal carcinoma in situ (DCIS)
- **"Rock-hard"** fixed and **immobile** mass with sharp edges
- Classic **"stellate" infiltration**
- Most invasive
- Worst prognosis
- Most common
227
What are the features of invasive lobular carcinoma of the breast?
- Often multiple and bilateral
- Due to **inactivation of _e-cadherin_ gene**
- ER +ve
- PR +ve
- **Signet ring cells** on microscopy
228
List the types of invasive carcinoma of the breast.
- **Invasive ductal carcinoma**
- **Invasive lobular carcinoma**
- Cribiform/tubular carcinoma
- Papillary carcinoma
- Medullary carcinoma
- Mucinous carcinoma
- Metaplastic carcinoma
229
What are the features of inflammatory carcinoma of the breast?
- A type of presentation, and not a subtype, of invasive breast carcinoma
- Caused by invasion of dermal lymphatics, leading to visible inflammatory changes
\>\> Peau d'orage
\>\> Nipple retraction (new! -- can be congenital in some ladies)
\>\> Skin dimpling of the breast
230
What is the characteristic histologic feature of invasive lobular carcinoma?
- Signet ring cells
- Indian file: orderly row of cells
231
What is Paget's disease of the breast?
- Eczematous patches on the nipple
- Suggests **underlying DCIS** (ductal carcinoma in situ of the breast)
- On microscopy: **Paget cells** = large cells in the epidermis with _clear halo_
232
Name three selective estrogen receptor modulators (SERMs) and their clinical indications.
1. Clomiphene
\>\> For **PCOS-induced infertility** and anovulation
\>\> Antagonist at the estrogen receptors of the hypothalamus
2. Tamoxifen
\>\> Treatment and prevention of **ER +ve breast carcinoma**
\>\> Antagonist at the breasts
\>\> Agonist at the uterus and bone
3. Raloxifene
\>\> Treatment of **osteoporosis**
\>\> Antagonist at the uterus and breast
\>\> Agonist at the bone
233
What are the possible side effects of tamoxifen?
- Increased risk for endometrial carcinoma (agonist at the uterus)
- Increased risk for thromboembolic events
234
What are the possible side effects of raloxifene?
- Increased risk for thromboembolic events
- **No increased risk for endometrial carcinoma**
235
What is the mechanism of action of anastrozole? What is another drug in the same class? What is the clinical indication for these drugs?
- Aromatase inhibitor
- **Exemestane**
- Treatment of breast cancer in **postmenopausal** women
236
Name two aromatase inhibitors.
What are their clinical indications and what are some possible side effects?
Anastrozole and exemestane
## Footnote
- Indication: treatment for breast cancer in postmenopausal women
- Side effects: osteoporosis and thus increased risk for pathological fractures
237
What is the most common breast _tumour_ in women under 25 years of age in the U.S?
Fibroadenoma
238
What is the most common breast mass in postmenopausal women?
Invasive ductal carcinoma
239
What is the most common breast _mass_ in premenopausal women?
Fibrocystic changes of the breast
240
Name the testicular tumour.
Histologically may have an alveolar or tubular appearance, sometimes with papillary convolutions
Embryonal carcinoma
241
Name the testicular tumour.
Multiple tissue types
Teratoma
242
Name the testicular tumour.
Histologic endodermal sinus structures (Schiller-Duval Bodies)
Yolk sac tumour
243
Name the testicular tumour.
25% have cytoplasmic rod-shaped crystalloids of Reinke
Leydig cell tumour
244
Name the testicular tumour.
Androgen-producing and associated with precocious puberty
Leydig cell tumour
Sertoli cell tumour
245
Name the testicular tumour.
Composed of cytotrophoblasts and syncytiotrophoblasts
Choriocarcinoma
246
Name the testicular tumour.
May present initially with gynecomastia
Sertoli cell tumour (associated with Peutz-Jeghers and Carney syndrome)
Leydig cell tumour (Reinke crystals)
247
Name the testicular tumour.
Elevated AFP
Yolk sac tumour
248
Name the testicular tumour.
Elevated beta-hCG
Choriocarcinoma
Embryonal carcinoma
249
Name the testicular tumour.
Histologic appearance similar to koilocytes (cytoplasmic clearing)
Seminoma
250
Name the ovarian tumour.
- Estrogen-secreting
- Precocious puberty
Granulosa-theca cell tumour
251
Name the ovarian tumour.
- Produces AFP
Yolk sac (endodermal sinus) tumour
252
Name the ovarian tumour.
Psammoma bodies
Serous cystadenocarcinoma of the ovary
253
Name the ovarian tumour.
Intraperitoneal accumulation of mucinous material (pseudomyxoma peritonei)
Mucinous cystadenocarcinoma of the ovary
254
Name the ovarian tumour.
- Testosterone-secreting
- Virilization
Sertoli-Leydig cell tumour
255
Name the ovarian tumour.
Lined with fallopian tube-like epithelium
Serous cystadenoma
256
Name the ovarian tumour.
- Ovarian tumour
- Ascites
- Hydrothorax
Meigs syndrome with ovarian fibroma
257
Name the ovarian tumour.
Resembles bladder epithelium
Brenner tumour
