Epispadias
Def’n, Cause (Embryo), Comp?
Abnormal opening of penile urethra on SUP / DORSAL side.
CAUSE = Faulty positioning of genital tubercle.
COMP:
- Exstrophy of Bladder
Hypospadias
Def’n, Cause (Embryo), Comp?
Abnormal opening of penile urethra on INF / VENTRAL side.
CAUSE = Failure of urogenital folds to close.
COMP:
- UTIs (Must fix hypospadias to prevent UTIs)
NO Sertoli Cells or LACK of Anti-Mullerian hormone / Mullerian IF
(Male)
- Devel of Internal Genitalia = ?
- Devel of External Genitalia = ?
- Internal genitalia = Male + Female
- External genitalia = Male (unaffected)
Klinefelter Sx
Def’n, Mech, RF, Assoc (2), Pres (5), Labs (4), RX?
47 XXY Male = Male with extra X chr / barr body = 1ry Hypogonadism.
MECH = MATERNAL Meiotic ND.
RF = ↑maternal age.
ASSOC:
- Autoimmune disorders (eg RA, SLE, Sjorgens)
- Testicular GC tumors
PRES: “Hypogonadism, UNILAT Gynecomastia + MR”
- Hypogonadism / Testicular atrophy ->
- Infertility
- UNILAT Gynecomastia
- Female hair distribution
- Devel delay (possible)
LABS:
- FSH↑(due to dysgenesis of seminiferous tubules ->↓Inhibin)
- LH↑(due to↓Testosterone)
- Testosterone↓
- Estrogen↑
RX:
- Testosterone therapy
Turner’s Sx
Def’n, Mech, Pres (7), Labs (3)?
45 XO Female = Primary Hypogonadism.
MECH = Monosomy (Partial or Complete).
PRES: “Newborn female with cystic mass (hygroma) in neck + edema,
triangular face + coarctation of aorta.”
** Either 1ry ovarian failure / amenorrhea OR
Premature menopause with streak ovary **
- Ovarian dysgenesis / “streak ovary” ->
- Infertility
- Infantile genitalia with little pubic hair
- Short stature
- Cystic Hygroma (“webbing” of neck)
- Lymphedema in hands + feet
- Horseshoe kidney
LABS:
- FSH↑(High FSH : LH ratio due to↓Estrogen)
- LH↑
- Estrogen ↓
- Hypogonadism
- Short + Obese
- MR
Mech?
Prader-Willi Sx
MECH = Microdeletion.
Androgen Insensitivity Sx / Testicular Feminization
** Genotypic Male (46 XY) ; Phenotypic Female **
Def’n, Pres (5), Labs (3)?
Deficiency of Androgen receptors ->
Normal-appearing phenotypic female, however genotypic male.
PRES:
- Rudimentary Vagina: ends as blind pouch
- Uterus + Uterine tubes generally absent (MIF present)
- Testes present: commonly found in ab cavity or inguinal canal
- Female external genitalia (due to no DHT effect)
- No sexual hair
LABS:
- LH ↑
- Testosterone + DHT: Normal Male levels or↑
- Estrogen↑(unopposed)
5a-reductase Deficiency (Male)
Def’n, Internal / External Genitalia, Inher, Labs (3)?
Inability to convert Testosterone -> DHT.
Internal genitalia = Male (unaffected)
External genitalia = AMBIGUOUS until puberty
(when↑Testosterone stims their devel)
AR.
LABS:
- LH normal or↑
- Testosterone normal
- Estrogen normal
Kallman Sx
Def’n, Inher, Pres (2 “categories”), Labs (4)?
Absent GnRH.↓synthesis of GnRH in hypothalamus.
(Undeveloped olfactory bulbs + GnRH-producing cells)
AD.
PRES:
- Hypogonadism, lack of secondary sexual chars + delayed puberty
- Color Blindness + Anosmia
LABS:
- GnRH↓
- FSH + LH ↓
- Testosterone ↓
- Sperm count ↓
Hydatidiform Mole
Def’n, Mech (2), Pres (Trimester + General + 1 + 2 CLUES),
DX, Comp (2), RX (2), Mgmt?
ABNORMAL FERTILIZATION of ovum.
MECH:
- ‘Cystic swelling’ of villi: swollen / edematous / hydropic villi
- Abnormal prolif of trophoblasts / chorionic epithelium around villi
PRES: MC in 2nd trimester.
- Uterus expands as if normal pregnancy is present, however uterus much larger and b-HCG much higher than expected for gestation date*.
- Abnormal vaginal bleeding
- “Honeycombed uterus”
- “Cluster of grapes” masses passing thr vaginal canal
DX: Fetal U/S in 1st trimester
COMP:
- Uterine rupture
- Choriocarcinoma (MC precursor of)
RX:
- D and C
- Methotrexate
MGMT:
- Monitoring of b-HCG -> Ensure adequate mole removal
- > Screen for Choriocarcinoma
Clear Cell Adenocarcinoma of Vagina
Causes?
CAUSES:
* - DES exposure in utero
Pregnancy
Systemic Conditions at↑Risk For (2)?
- Pyelonephritis
- Pyogenic granuloma (hemangioma = vasc tumor)
Abruptio Placentae
Def’n, RF (4), Pres (CLUE)?
SEPARATION of placenta from decidua / implantation site
prior to delivery.
** ABRUPT detachment -> stillbirth / fetal death **
RF:
- DIC
- Htn
- Smoking
- Cocaine use
PRES:
- “Painful bleeding in 3rd trimester”
Placenta Accreta
THINK: Accreta = “encased in”
(Placenta encased in myometrium)
Def’n (3 steps), RF (3), Pres (CLUE), Mgmt?
DEFECTIVE / LITTLE OR NO DECIDUA ->
Improper implantation of placenta into myometrium ->
NO SEPARATION of placenta after birth.
RF:
- Placenta Previa
- Infl
- Prior C-Section
PRES:
- “Massive bleeding after delivery”
MGMT:
- Hysterectomy often required
Placenta Previa
Def’n, RF (2), Pres (CLUE), Comp, Mgmt?
Attachment of placenta to lower uterine segment.
* May occlude os (cervical opening) *
RF:
- Multiparity
- Prior C-Section
PRES:
- “Painless bleeding in any trimester (esp 3rd trimester)”
COMP:
- Placenta Accreta
MGMT:
- C-Section delivery often required
CIN + Cervical Carcinoma In Situ
CB + Subtypes, Def’n, Classification, Mech (2), RF (4), Prog?
HPV (DNA virus that infects lower genital tract,
esp cervix in transformation zone).
- High-Risk HPV types: 16, 18, 31, 33
- Low-Risk HPV types: 6, 11
Cervical dysplasia (disordered epithelial growth) that begins at
basal layer of squamo-columnar junction (transformation zone) and
extends outwards.
Classified as CIN I, II or III depending on extent of dysplasia.
MECH:
- HPV 16 -> produces E6 protein -> destruction of p53
- HPV 18 -> produces E7 protein -> destruction of Rb
RF:
- Immunodeficiency / HIV
- Early sexual intercourse
- Multiple sexual partners
- Smoking
PROG:
- Infection usually eradicated by acute infl *
- Persistent infection -> CIN -> Carcinoma
Invasive Cervical Carcinoma In Situ
Def’n + Classifications (2 possible), Pres (Epi + 2), Comp, Prev?
Carcinoma that arises from cervical epithelium.
MC SCC, however Adenocarcinoma in 15% of cases.
PRES: MC in 40-50
- Cervical discharge
- Vaginal bleeding, esp post-coital
COMP:
- Lateral invasion (to bladder) can block Ureters -> Renal Failure.
- Common cause of death in advanced cases *
PREV:
- Pap Smear (detection of koilocytes / cervical dysplasia)
Endometritis
Def’n, Mech (2 steps), Causes / Assoc (2), Pres (5), RX (3)?
Infl of endometrium.
MECH:
RETAINED MATERIAL in uterus ->
INFECTION by bacterial flora from vagina or intestinal tract.
CAUSES / ASSOC:
- Retained products of conception following delivery
(vaginal / c-section / miscarriage / abortion)
- Foreign body (ie IUD)
PRES:
- Fever
- Ab pain
- Uterine tenderness
- Menstrual abnormalities
- Infertility
RX:
- Ampicillin-Sulfabactam
- Cefoxitin
- Ticarcillin-Clavulanate
Acute Endometritis
Def’n, Pres?
(only including additional info to general endometritis)
BACTERIAL INFECTION of endometrium.
PRES:
- Abnormal uterine bleeding
Chronic Endometritis
Def’n, Causes / Assoc (2), Blood (2), DX?
(only including additional info to general endometritis)
Chronic infl of endometrium.
CAUSES / ASSOC:
- Chronic PID
- TB
HISTO:
- Lymphocytes
- Plasma cells
DX:
- Plasma cells (because lymphocytes normally found in endometrium)
Maternal Diabetes
Comp (Fetal)?
COMP (Fetal):
- D-Transposition of Great Vessels
Asherman Sx
Def’n, Causes (CLUE)?
Amenorrhea (2ry amenorrhea) due to loss of basalis + scarring.
CAUSES:
- “Over-aggressive D and C”
Endometrial Hyperplasia
Def’n, Causes (5: 3 ovarian + 2), Pres, Comp, Dx?
Hyperplasia / abnormal proliferation of endometrial GLANDS relative to stroma.
CAUSES: ↑Estrogen exposure (ie↑w pregnancy +↓w menopause)
- Anovulatory cycles
- PCOS
- Granulosa cell tumor
- Obesity
- Estrogen replacement
PRES:
- Post-menopausal vaginal bleeding
COMP:
-↑risk for endometrial carcinoma
DX:
- Presence / absence of cellular atypia
- Most important predictor for progression to carcinoma *
Endometrial Polyps
Def’n, Causes, Pres?
Hyperplastic PROTRUSIONS of endometrium.
CAUSES: ↑Estrogen exposure
- Tamoxifen (weak pro-estrogen effects on endometrium)
PRES:
- Abnormal uterine bleeding
