Repro Flashcards
Sonic hedgehog gene
- Produced at base of limbs
- Anteroposterior axis and CNS development
- Mutation –> holoprosencephaly
Wnt-7 gene
- Produced at apical ectodermal ridge (distal limb)
- Dorsal-ventral exis
FGF gene
- Produced at apical ectodermal ridge
- Lengthening of limbs
Homeobox genes
- Code for TF
- Mutation –> appendages in wrong locations
ACEi during pregnancy
Renal damage
Alkylating agent during pregnancy
Absence of digits, multiple probs
Aminoglycosides
Ototoxicity
Antiepileptic drugs (Valproate, carbamazepine, phenytoin, phenobarbital)
Neural tube defects (high dose folate supplementation), cardiac defects, cleft palate, skeletal abnormalities
DES
Vaginal clear cell adenocarcinoma, congenital Mullerian anomalies
Folate antagonists (trimethoprim, methotrexate, antiepileptics)
Neural tube defects
Isotretinoin
Multiple severe birth defects
Conception mandatory
Lithium
EBSTEIN ANOMALY - apical displacement of tricuspid valve (decreased volume of RV, atrialization of RV)
Methimazole
Aplasia cutis congenita
Tetracyclines
Discolored teeth, inhibited bone growth
Thalidomide
Limb defects (“flipper” limbs)
Warfarin
Bone deformities, fetal hemorrahge, abortion, ophthalmologic abnormalities
- USE HEPARIN IN PREGNANCY
Alcohol in pregnancy
FAS - intellectual disability, pre- and postnatal development retardation, microcephaly, smooth philtrum, thin upper lip, small palepbral fissures, limb dislocation, heart defects, heart-lung fistulas, holoprosencephaly
- Failure of cell migration
Cocaine in pregnancy
Low birth weight, preterm birth, IUGR, placental abruption
- Causes vasoconstriction
Smoking in pregnancy
Low birth weight, preterm labor, placental problem, IUGR, SIDS
- Nicotine –> vasoconstriction
- CO –> impaired O2 delivery
Iodine (lack or excess) in pregnancy
Congenital goiter/hypothyroidism (cretinism)
Maternal Diabetes
- Caudal regression syndrome (anal atresia, sirenomelia), congenital heart defects, neural tube defects, macrosomia
Methylmercury (from swordfish, shark, tilefish, king mackerel) in pregnancy
Neurotoxicity
Vitamin A excess in pregnancy
Spontaneous abortions, birth defects (cleft palate, cardiac probs)
X-rays in pregnancy
Microcephaly, intellectual disability
Urachus
- Fetal bladder –> umbilicus
- Patent urachus –> urine discharge from umbilicus
- Urachal cyst, vesicourachal diverticulum
Vitelline Duct
Yolk sac –> midgut lumen
Vitelline fistula –> meconium discharge from umbilicus
- Meckel diverticulum
Cleft Lip
Failure of fusion of maxillary and medial nasal processes
Cleft Palate
Failure of fusion of two lateral palatine shelves or failure of fusion of lateral palatine shelves with nasal septum and/or medial palatine shelf
Mullerian Agenesis (Mayer-Rokitansky-Kuster-Hauser Syndrome)
Primary amenorrhea (lack of uterine development) in females with fully developed secondary sexual characteristics (functional ovaries) - Paramesonephric duct prob
Gartner Duct
Remnant of mesonephric duct in females
Male remnant of paramesonephric duct
appendix testis
No sertoli cells or lack of mullerian inhibitory factor
Testes + no MIF
- Develop both male and female internal genitalia
- Develop male external genitalia
5-alpha reductase deficiency
Inability to convert testosterone to DHT
- Male internal genitalia, ambiguous external genitalia until puberty (increased testosterone causes masculinization)
- Testosterone/estrogen levels normal
- LH is normal or increased
- Internal genitalia normal
Hypospadias
Failure of URETHRAL FOLDS to fuse
- Assoc. w/ inguinal hernia and cryptorchidism
Epispadias
Faulty position of GENITAL TUBERCLE
- Assoc. w/ exstrophy of the bladder
Gubernaculum
Male: anchors testes
Female: ovarian ligament + round ligament of uterus
Processus vaginalus
Forms tunica vaginalis in male
What drains to para-aortic lymph nodes?
Ovaries/testes
What drains to external iliac nodes?
Body of uterus
Cervix
Superior bladder
What drains to internal iliac nodes?
Prostate
Cervix
Corpus cavernosum
Proximal vagina
What drains to superficial inguinal nodes?
Distal vagina
Vulva
Scrotum
Distal anus
What drains to deep inguinal nodes?
Glans penis
Infundibulopelvic Ligament (Suspensory Ligament of the Ovary)
Ovary –> lateral pelvic wall
- OVARIAN VESSELS
- Ligate during oophorectomy
- Ureter courses retroperitoneally (close to gonadal vessel) –> can injure during ligation
Cardinal Ligament
Cervix –> side wall of pelvis
- UTERINE VESSELS
- Ureter at risk of injury during ligation in hysterectomy
Round ligament of uterus
Uterine fundus –> labia majora
- GUBERNACULUM
- travels through round inguinal canal
Broad ligament
Uterus/fallopian tubes/ovaries –> pelvic side wall
- OVARIES, FALLOPIAN TUBES, ROUND LIGAMENT OF UTERUS
- Mesosalpinx, mesometrium, mesovariu
Ovarian ligament
Medial pole of ovary –> lateral uterus
- GUBERNACULUM
Posterior Urethral Injury
- Pelvic fracture
- Membranous urethra
- Urine –> retropubic space
Anterior Urethral Injury
- Perineal straddle injury
- Bulbar/penile urethra
- Urine –> deep fascia of Buck –> if torn, superficial perineal space
Placental Aromatase Deficiency
- 46 XX infant with ambiguous genitalia
Inability to synthesize estrogens from androgens
- Increased testosterone and androstenedione
- Can present with maternal virlization during pregnancy (fetal androgens cross placenta)
Kallmann Syndrome
- Failure to complete puberty
- Anosmia
- Infertiliry
- Hypogonadotropic hypogonadism
- Defective migration of GnRH cells and formation of olfacotry bulb
- Decreased GnRH synthesis in hypothalamus
- Decreased GnRH, FSH, LH, testosterone
Presentation of Choriocarcinoma
- Abnormally high beta-hCG, SoB, hemoptysis
- Malignancy of trophoblastic tissue, NO chorionic villi
- Increased frequency of bilateral/multiple theca-lutein cysts
Bartholin Cyst
Vulva
- Unilateral lesion in lower vestibule, painful, adjacent to vaginal canal
- Women of reproductive age
Lichen Sclerosis
- Thinning of epidermis and fibrosis of dermis
- BENIGN - slightly increased risk of SCC
- Leukoplakia w/ parchment-like vulvar skin
- POST-menopausal women
Lichen Simplex Chronicus
- Hyperplasia of vulvar squamous epithelium
- BENIGN - NO increased risk of SCC
- Leukoplakia w/ thick, leathery vulvar rash
- From chronic irritation and scratching
Vulvar Carcinoma
- HPV related (16, 18) - VIN (dysplasia), 40-50 yo
- Non-HPV related = long-standing lichen sclerosis - older > 70
- Presents as leukoplakia (need bx to distinguish)
Vaginal SCC
- Secondary to cervcial SCC (high risk HPV)
Vaginal clear cell adenocarcinoma
DES in utero
- Clear cytoplasm
Sarcoma botryoides (embryonal rhabdomyosarcoma variant)
- Girls
CIN Stages for Cervical Carcinoma
- CIN: koilocytic change, nuclear atypia, increased mitotic activity (dysplasia)
- CIN1: first 1/3
- CIN2: middle 2/3
- CIN3: most of epi
- CIS: entire epi (NOT reversible)
RF for Cervical Carcinoma
Multiple sexual partners!!! smoking, intercourse at young age, HIV, immunodeficiency
Premature Ovarian Failure
- Premature atresia of ovarian follicles in women of reproductive age
- Signs of menopause after puberty but before age 40
- Decreased estrogen, increased LH & FSH
Follicular Cyst
- Most common ovarian mass in young women
- Distention of unruptured graafian follicle
- Assoc. w/ hyperestrogenism, endometrial hyperplasia
Theca-Lutein Cyst
- Due to gonadotropin stimulation
- Assoc. w/ choriocarcinoma and hyatidiform moles
CA-125
Ovarian neoplasm
Most common ovarian neoplasm
Serous cystadenoma
Most common ovarian tumor in females 10-30
Mature cystic teratoma (dermoid cyst)
Struma ovarii
Monodermal teratoma with thyroid tissue –> hyperthyroidism
Meigs Syndrome
Ovarian fibroma + ascites + hydrothorax
Most common malignant stromal tumor
Granulosa cell tumor
- CALL EXNER BODIES
Most common malignant ovarian neoplasm
Serous cystadenocarcinoma
- PSAMMOMA BODIES
Pseudomyxoma peritonei
Intraperitoneal accumulation of mucinous material from ovarian or appendiceal tumor
Dysgerminoma tumor markers
hCG, LDH
“Fried egg” cells
Yolk Sac (endodermal sinus) tumor markers
AFP
Schiller-duval bodies
Kids
Krukenberg tumor
GI mets to ovaries –> mucin-secreting signet cell adenocarcinoma
Asherman Syndrome
Secondary amenorrhea due to loss of basalis (regenerative layer) and scarring
- Result of overaggressive D & C
Most common tumor in females
Endometrial leiomyoma (fibroid) - Whorled pattern
Greatest RF in endometrial hyperplasia
Nuclear atypia
Most common gynecologic malignancy
Endometrial carcinoma
Fibrocystic changes –> risk for invasive carcinoma
NO RISK: fibrosis, cysts, apocrine metaplasia
2x RISK: ductal hyperplasia, sclerosing adenosis (calcified)
5x RISK: atypical hyperplasia
Intraductal Papilloma
- BLOODY discharge
- Small papillary tumor within lactiferous ducts
- Slight increased risk for cancer
- Pre-menopausal
Phyllodes Tumor
Large mass of CT and cysts with “leaf-like” lobulations
- Most common in fifth decade
- Some may become malignant
Periductal Mastitis
- Inflammation of subareolar ducts
- SMOKERS - Vit A deficiency –> keratin plugs tube
- Subareolar mass with nipple retraction
Mammary Duct Ectasia
- GREEN/BROWN NIPPLE DISCHARGE
- Plasma cells
- Inflammation with dilation of subareolar ducts
- Multiparous postmenopausal women
Peyronie Disease
Abnormal curvature of penis due to fibrous plaque within tunica albuginea
- ED, pain, anxiety
Bowen DZ
SCC in penile shaft –> presents as leukoplakia
Erythroplasia of Queyrat
SCC in glans –> presents as erythroplakia
Bowenoid papulosis
CIS of unclear malignant potential –> presents as reddish papules
Seminoma Marker
Placental ALP
Yolk Sac Tumor Marker
AFP
Schiller Duval Bodies
Most common testicular tumor in boys
Yolk sac tumor
Leydig Cell Tumor
Reinke crystals
Most common testicular cancer in old men
Lymphoma
Most common site of BPH
Periurethral zone (lateral and middle lobes)
Causes of orchitis/prostatits
Young/sexually active: Chlamydia, GC
Old/UTI: E. coli, psuedomonas
Most common site of prostatic adenocarcinoma
Posterior lobe (peripheral zone)
- PAP and PSA tumor markers
- Increased serum ALP and PSA
