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1
Q

Sonic hedgehog gene

A
  • Produced at base of limbs
  • Anteroposterior axis and CNS development
  • Mutation –> holoprosencephaly
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2
Q

Wnt-7 gene

A
  • Produced at apical ectodermal ridge (distal limb)

- Dorsal-ventral exis

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3
Q

FGF gene

A
  • Produced at apical ectodermal ridge

- Lengthening of limbs

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4
Q

Homeobox genes

A
  • Code for TF

- Mutation –> appendages in wrong locations

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5
Q

ACEi during pregnancy

A

Renal damage

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6
Q

Alkylating agent during pregnancy

A

Absence of digits, multiple probs

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7
Q

Aminoglycosides

A

Ototoxicity

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8
Q

Antiepileptic drugs (Valproate, carbamazepine, phenytoin, phenobarbital)

A

Neural tube defects (high dose folate supplementation), cardiac defects, cleft palate, skeletal abnormalities

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9
Q

DES

A

Vaginal clear cell adenocarcinoma, congenital Mullerian anomalies

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10
Q

Folate antagonists (trimethoprim, methotrexate, antiepileptics)

A

Neural tube defects

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11
Q

Isotretinoin

A

Multiple severe birth defects

Conception mandatory

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12
Q

Lithium

A

EBSTEIN ANOMALY - apical displacement of tricuspid valve (decreased volume of RV, atrialization of RV)

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13
Q

Methimazole

A

Aplasia cutis congenita

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14
Q

Tetracyclines

A

Discolored teeth, inhibited bone growth

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15
Q

Thalidomide

A

Limb defects (“flipper” limbs)

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16
Q

Warfarin

A

Bone deformities, fetal hemorrahge, abortion, ophthalmologic abnormalities
- USE HEPARIN IN PREGNANCY

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17
Q

Alcohol in pregnancy

A

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

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18
Q

Cocaine in pregnancy

A

Low birth weight, preterm birth, IUGR, placental abruption

- Causes vasoconstriction

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19
Q

Smoking in pregnancy

A

Low birth weight, preterm labor, placental problem, IUGR, SIDS

  • Nicotine –> vasoconstriction
  • CO –> impaired O2 delivery
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20
Q

Iodine (lack or excess) in pregnancy

A

Congenital goiter/hypothyroidism (cretinism)

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21
Q

Maternal Diabetes

A
  • Caudal regression syndrome (anal atresia, sirenomelia), congenital heart defects, neural tube defects, macrosomia
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22
Q

Methylmercury (from swordfish, shark, tilefish, king mackerel) in pregnancy

A

Neurotoxicity

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23
Q

Vitamin A excess in pregnancy

A

Spontaneous abortions, birth defects (cleft palate, cardiac probs)

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24
Q

X-rays in pregnancy

A

Microcephaly, intellectual disability

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25
Q

Urachus

A
  • Fetal bladder –> umbilicus
  • Patent urachus –> urine discharge from umbilicus
  • Urachal cyst, vesicourachal diverticulum
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26
Q

Vitelline Duct

A

Yolk sac –> midgut lumen
Vitelline fistula –> meconium discharge from umbilicus
- Meckel diverticulum

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27
Q

Cleft Lip

A

Failure of fusion of maxillary and medial nasal processes

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28
Q

Cleft Palate

A

Failure of fusion of two lateral palatine shelves or failure of fusion of lateral palatine shelves with nasal septum and/or medial palatine shelf

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29
Q

Mullerian Agenesis (Mayer-Rokitansky-Kuster-Hauser Syndrome)

A 
Primary amenorrhea (lack of uterine development) in females with fully developed secondary sexual characteristics (functional ovaries)
- Paramesonephric duct prob
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30
Q

Gartner Duct

A

Remnant of mesonephric duct in females

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31
Q

Male remnant of paramesonephric duct

A

appendix testis

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32
Q

No sertoli cells or lack of mullerian inhibitory factor

A

Testes + no MIF

  • Develop both male and female internal genitalia
  • Develop male external genitalia
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33
Q

5-alpha reductase deficiency

A

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
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34
Q

Hypospadias

A

Failure of URETHRAL FOLDS to fuse

- Assoc. w/ inguinal hernia and cryptorchidism

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35
Q

Epispadias

A

Faulty position of GENITAL TUBERCLE

- Assoc. w/ exstrophy of the bladder

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36
Q

Gubernaculum

A

Male: anchors testes
Female: ovarian ligament + round ligament of uterus

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37
Q

Processus vaginalus

A

Forms tunica vaginalis in male

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38
Q

What drains to para-aortic lymph nodes?

A

Ovaries/testes

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39
Q

What drains to external iliac nodes?

A

Body of uterus
Cervix
Superior bladder

40
Q

What drains to internal iliac nodes?

A

Prostate
Cervix
Corpus cavernosum
Proximal vagina

41
Q

What drains to superficial inguinal nodes?

A

Distal vagina
Vulva
Scrotum
Distal anus

42
Q

What drains to deep inguinal nodes?

A

Glans penis

43
Q

Infundibulopelvic Ligament (Suspensory Ligament of the Ovary)

A

Ovary –> lateral pelvic wall

  • OVARIAN VESSELS
  • Ligate during oophorectomy
  • Ureter courses retroperitoneally (close to gonadal vessel) –> can injure during ligation
44
Q

Cardinal Ligament

A

Cervix –> side wall of pelvis

  • UTERINE VESSELS
  • Ureter at risk of injury during ligation in hysterectomy
45
Q

Round ligament of uterus

A

Uterine fundus –> labia majora

  • GUBERNACULUM
  • travels through round inguinal canal
46
Q

Broad ligament

A

Uterus/fallopian tubes/ovaries –> pelvic side wall

  • OVARIES, FALLOPIAN TUBES, ROUND LIGAMENT OF UTERUS
  • Mesosalpinx, mesometrium, mesovariu
47
Q

Ovarian ligament

A

Medial pole of ovary –> lateral uterus

- GUBERNACULUM

48
Q

Posterior Urethral Injury

A
  • Pelvic fracture
  • Membranous urethra
  • Urine –> retropubic space
49
Q

Anterior Urethral Injury

A
  • Perineal straddle injury
  • Bulbar/penile urethra
  • Urine –> deep fascia of Buck –> if torn, superficial perineal space
50
Q

Placental Aromatase Deficiency

- 46 XX infant with ambiguous genitalia

A

Inability to synthesize estrogens from androgens

  • Increased testosterone and androstenedione
  • Can present with maternal virlization during pregnancy (fetal androgens cross placenta)
51
Q

Kallmann Syndrome

  • Failure to complete puberty
  • Anosmia
  • Infertiliry
A
  • Hypogonadotropic hypogonadism
  • Defective migration of GnRH cells and formation of olfacotry bulb
  • Decreased GnRH synthesis in hypothalamus
  • Decreased GnRH, FSH, LH, testosterone
52
Q

Presentation of Choriocarcinoma

A
  • Abnormally high beta-hCG, SoB, hemoptysis
  • Malignancy of trophoblastic tissue, NO chorionic villi
  • Increased frequency of bilateral/multiple theca-lutein cysts
53
Q

Bartholin Cyst

A

Vulva

  • Unilateral lesion in lower vestibule, painful, adjacent to vaginal canal
  • Women of reproductive age
54
Q

Lichen Sclerosis

A
  • Thinning of epidermis and fibrosis of dermis
  • BENIGN - slightly increased risk of SCC
  • Leukoplakia w/ parchment-like vulvar skin
  • POST-menopausal women
55
Q

Lichen Simplex Chronicus

A
  • Hyperplasia of vulvar squamous epithelium
  • BENIGN - NO increased risk of SCC
  • Leukoplakia w/ thick, leathery vulvar rash
  • From chronic irritation and scratching
56
Q

Vulvar Carcinoma

A
  • 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)
57
Q

Vaginal SCC

A
  • Secondary to cervcial SCC (high risk HPV)
58
Q

Vaginal clear cell adenocarcinoma

A

DES in utero

- Clear cytoplasm

59
Q

Sarcoma botryoides (embryonal rhabdomyosarcoma variant)

A
  • Girls
60
Q

CIN Stages for Cervical Carcinoma

A
  • 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)
61
Q

RF for Cervical Carcinoma

A

Multiple sexual partners!!! smoking, intercourse at young age, HIV, immunodeficiency

62
Q

Premature Ovarian Failure

A
  • Premature atresia of ovarian follicles in women of reproductive age
  • Signs of menopause after puberty but before age 40
  • Decreased estrogen, increased LH & FSH
63
Q

Follicular Cyst

- Most common ovarian mass in young women

A
  • Distention of unruptured graafian follicle

- Assoc. w/ hyperestrogenism, endometrial hyperplasia

64
Q

Theca-Lutein Cyst

A
  • Due to gonadotropin stimulation

- Assoc. w/ choriocarcinoma and hyatidiform moles

65
Q

CA-125

A

Ovarian neoplasm

66
Q

Most common ovarian neoplasm

A

Serous cystadenoma

67
Q

Most common ovarian tumor in females 10-30

A

Mature cystic teratoma (dermoid cyst)

68
Q

Struma ovarii

A

Monodermal teratoma with thyroid tissue –> hyperthyroidism

69
Q

Meigs Syndrome

A

Ovarian fibroma + ascites + hydrothorax

70
Q

Most common malignant stromal tumor

A

Granulosa cell tumor

- CALL EXNER BODIES

71
Q

Most common malignant ovarian neoplasm

A

Serous cystadenocarcinoma

- PSAMMOMA BODIES

72
Q

Pseudomyxoma peritonei

A

Intraperitoneal accumulation of mucinous material from ovarian or appendiceal tumor

73
Q

Dysgerminoma tumor markers

A

hCG, LDH

“Fried egg” cells

74
Q

Yolk Sac (endodermal sinus) tumor markers

A

AFP
Schiller-duval bodies
Kids

75
Q

Krukenberg tumor

A

GI mets to ovaries –> mucin-secreting signet cell adenocarcinoma

76
Q

Asherman Syndrome

A

Secondary amenorrhea due to loss of basalis (regenerative layer) and scarring
- Result of overaggressive D & C

77
Q

Most common tumor in females

A 
Endometrial leiomyoma (fibroid)
- Whorled pattern
78
Q

Greatest RF in endometrial hyperplasia

A

Nuclear atypia

79
Q

Most common gynecologic malignancy

A

Endometrial carcinoma

80
Q

Fibrocystic changes –> risk for invasive carcinoma

A

NO RISK: fibrosis, cysts, apocrine metaplasia
2x RISK: ductal hyperplasia, sclerosing adenosis (calcified)
5x RISK: atypical hyperplasia

81
Q

Intraductal Papilloma

A
  • BLOODY discharge
  • Small papillary tumor within lactiferous ducts
  • Slight increased risk for cancer
  • Pre-menopausal
82
Q

Phyllodes Tumor

A

Large mass of CT and cysts with “leaf-like” lobulations

  • Most common in fifth decade
  • Some may become malignant
83
Q

Periductal Mastitis

A
  • Inflammation of subareolar ducts
  • SMOKERS - Vit A deficiency –> keratin plugs tube
  • Subareolar mass with nipple retraction
84
Q

Mammary Duct Ectasia

A
  • GREEN/BROWN NIPPLE DISCHARGE
  • Plasma cells
  • Inflammation with dilation of subareolar ducts
  • Multiparous postmenopausal women
85
Q

Peyronie Disease

A

Abnormal curvature of penis due to fibrous plaque within tunica albuginea
- ED, pain, anxiety

86
Q

Bowen DZ

A

SCC in penile shaft –> presents as leukoplakia

87
Q

Erythroplasia of Queyrat

A

SCC in glans –> presents as erythroplakia

88
Q

Bowenoid papulosis

A

CIS of unclear malignant potential –> presents as reddish papules

89
Q

Seminoma Marker

A

Placental ALP

90
Q

Yolk Sac Tumor Marker

A

AFP

Schiller Duval Bodies

91
Q

Most common testicular tumor in boys

A

Yolk sac tumor

92
Q

Leydig Cell Tumor

A

Reinke crystals

93
Q

Most common testicular cancer in old men

A

Lymphoma

94
Q

Most common site of BPH

A

Periurethral zone (lateral and middle lobes)

95
Q

Causes of orchitis/prostatits

A

Young/sexually active: Chlamydia, GC

Old/UTI: E. coli, psuedomonas

96
Q

Most common site of prostatic adenocarcinoma

A

Posterior lobe (peripheral zone)

  • PAP and PSA tumor markers
  • Increased serum ALP and PSA

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