Reproductive System

Question 1

Lynch syndrome

Answer 1

Autosomal dominant
Inherited DNA mismatch repair defect
MSH2, MLH1, MSH6, PMS2 genes
Colorectal cancer
Endometrial cancer
Ovarian cancer
Patient with postive family history are at risk should start colonscopy by age 5

Question 2

Pre-Eclampsia & Eclampsia

Answer 2

• Headaches, Vision Changes, Epigastric pain
• New onset HTN(sys>140,dia>90) at or >20wks gestation
• Protienuria and/or signs of end organ damage (i.e renal failure)

Eclampsia: Pre-Eclampsia + Siezure

Tx: Hydralazine

Question 3

5-Alpha Reductase Def

Answer 3

46,XY genotype
Impaired conversion of testosterone to DHT
Male internal genitalia (eg, testes, vas deferens)
Female external genitalia (eg, blind-ending vagina)
Phenotypically female at birth
Normal male testosterone & estrogen levels
DHT promotes development of male external genetalia and prostate from genital tubercle and urogenital sinus

Question 4

21 Hydroxylase Deficiency

Answer 4

Increased 17-hydroxyprogesterone
Increased testosterone
hypotension, hyponatremia, and hyperkalemia
Low Cortisol and Aldosterone
Low BP

Question 5

17-Alpha hydroxylase deficiency

Answer 5

XY: atypical genitalia, undescended testes
XX: lacks 2° sexual development
the only one that presents with genital virilization in Males
Hypokalemia, Hypernatremia, Hyperglycemia

Question 6

Fragile X Syndrome

Answer 6

CGG Trinucleotide Repeat
Intellectual disability
Prominent Forehead
Large Ears, Long Narrow Face, Prominent Chin
Macroorchidism

MCC of death is Cardiomyopathy.

Question 7

Paget disease of the breast

Answer 7

Red, itchy, swollen rash of nipple/areola
(sign of underlying neoplasm)

Question 8

Sheehan syndrome

Answer 8

(severe postpartum hemorrhage
leading to pituitary infarction)
No lactation postpartum, absent menstruation, cold intolerance

postpartum hemorrhage in pituitary, no LH or FSH = no periods, hyperplasia infarcts; no prolactin = no milk

Question 9

HELLP Syndrome

Answer 9

Pre-Eclampsia Causing Hepatic Injury
“HELLP”
1- Hemolysis
2- Elevated Liver Enzymes
3- Low Platelets

Schistiocytes are seen on PBS.

Question 10

Polycystic Ovarian Syndrome

Answer 10

• Androgen excess (i.e.acne, male pattern baldness, hirsutism)
• Oligoovulation or anovulation (i.e.menstrual irregularities)
• Obesity
• Polycystic ovaries on ultrasonography
• Obese, hairy, acne;
• No ovulation due to no progesterone;
• Leads to increased endometrial cancer;
• They cannot inhibit LH

Labs:
- ↑Testosterone levels
- ↑Estrogen levels
- LH/FSH imbalance (FSH remains low relative to LH)

Question 11

Amniotic Fluid Emboli

Answer 11

SOB after Delivery

Question 12

Placenta Percerata

Answer 12

Placenta perforates through Serosa

Question 13

Complete Molar Pregnancy

Answer 13

2 sperm + no egg = 46XX; both are paternal; no embryo; looks like a bunch of grapes

Question 14

Abruptio Placenta

Answer 14

Severe pain due to premature seperation of placenta

Question 15

Incomplete Molar Pregnancy

Answer 15

2 sperm + 1 egg = 69 XXY; maternal + paternal; has embryo parts

Question 16

Placenta previa

Answer 16

Placenta completely or partially implanted in lower uterine segment

Question 17

Placenta Accereta

Answer 17

Placenta attached to endometrium

Question 18

Post-partum psychosis

Answer 18

Hallucination, Suicidal, Infanticidal

Question 19

Post-partum depression

Answer 19

Depression after delivery for >2 weeks

Question 20

B-hcg

Answer 20

Blood: 8-10 days after fertilization
Urine: 10-14 days after fertilization

Question 21

Ovarian Hyperstimulation Syndrome

Answer 21

Wt. gain and Enlarged ovaries after clomiphiene use for infertility

Question 22

Adenomyosis

Answer 22

growth of endometrium and myometrium; patients will have an enlarged boggy uterus with cystic areas

Question 23

Ashermans Syndrome

Answer 23

Uteriene scars from multiple D&Cs

Question 24

Endometriosis

Answer 24

painful cyclical heavy menstrual bleeding, powder burns and chocolate cysts due to ectopic endometrial tissue

Question 25

Leiomyoma

Answer 25

Aka Fibroids
Uteriene mass + Heavy menstural bleeding
benign uterus smooth muscle tumors; submucosal types bleed,
subserosal types cause pain
Microscopy show Monoclonal proliferation of myocytes and fibroblasts

Question 26

Epididymitis

Answer 26

Unilateral Scrotal pain decreased by support
MCC chlamydia trachomatis, N.gonorrhea, E.coli

Question 27

Condylomata lata

Answer 27

flat fleshy warts that ulcerate;
sign of secondary syphilis

Question 28

Condyloma accuminata

Answer 28

verrucous “cauliflower” warts, kilocytes;
due to HPV 6 and 11

Question 29

Herpes

Answer 29

Primary: painful grouped vesicles on red base
Secondary: painful solitary lesion

Question 30

Syphillis

Answer 30

Primary: painless chancre, 1-6 weeks
Secondary: rash and condyloma lata, after 6 weeks
Tertiary: neurological and cardiac issues, in bones, after 6 years

Question 31

Congenital CMV

Answer 31

spastic diplegia of legs,
hepatosplenomegaly,
blinding,
Central calcifications

Question 32

Congenital Rubella Syndrome

Answer 32

Classical Triad:
1- Cataracts
2- Sensoneural hearing loss
3- PDA (patent ductus arteriosis)

Blueberry muffin rash on face & spreads to trunk
Can be prevented by giving live attenuated vaccine to mother preconception.

Question 33

Congenital Syphillis

Answer 33

Rhagades (lip fissures),
Saber shins (anterior bowing of the tibia), Hutchinson’s razor teeth,
Mulberry molars

Question 34

Primary Ciliary Dyskinesia

Answer 34

Dynein arm defect → abnormal ciliary motion & impaired mucociliary clearance

Respiratory tract features:
Chronic sinopulmonary infections, Nasal polyps, Bronchiectasis, Digital clubbing

Extrapulmonary features:
- Situs inversus (50% of cases)
- Infertility due to immotile spermatozoa
- Normal growth

Question 35

Maternal Serum AFP

Answer 35

• Dating Error is the most common cause of abnormal AFP in maternal serum, Other cause include:
• ↑ Maternal Serum AFP:
  1. Open neural tube defects (Anencephaly, Spina bifida)
  2. Ventral wall defects (Omphalocele, Gastriachisis)
  3. Multiple Gestation
• ↓ Maternal Serum AFP:
  1. Aneuplodies (trisomy 18 & 21)