Reproductive System Flashcards

1
Q

Lynch syndrome

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Pre-Eclampsia & Eclampsia

A
  • 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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

5-Alpha Reductase Def

A
  • 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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

21 Hydroxylase Deficiency

A
  • Increased 17-hydroxyprogesterone
  • Increased testosterone
  • hypotension, hyponatremia, and hyperkalemia
  • Low Cortisol and Aldosterone
  • Low BP
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

17-Alpha hydroxylase deficiency

A
  • XY: atypical genitalia, undescended testes
  • XX: lacks 2° sexual development
  • The only one that presents with genital virilization in Males
  • Hypokalemia, Hypernatremia, Hyperglycemia
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Fragile X Syndrome

A
  • CGG Trinucleotide Repeat
  • Intellectual disability
  • Prominent Forehead
  • Large Ears, Long Narrow Face, Prominent Chin
  • Macroorchidism
  • MCC of death is Cardiomyopathy.
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Paget disease of the breast

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Sheehan syndrome

A

(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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

HELLP Syndrome

A

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

Schistiocytes are seen on PBS.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Polycystic Ovarian Syndrome

A
  • 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)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Amniotic Fluid Emboli

A

SOB after Delivery

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Placenta Percerata

A

Placenta perforates through Serosa

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Complete Molar Pregnancy

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Abruptio Placenta

A

Severe pain due to premature seperation of placenta

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Incomplete Molar Pregnancy

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Placenta previa

A

Placenta completely or partially implanted in lower uterine segment

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Placenta Accereta

A

Placenta attached to endometrium

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Post-partum psychosis

A

Hallucination, Suicidal, Infanticidal

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Post-partum depression

A

Depression after delivery for >2 weeks

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

B-hcg

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Ovarian Hyperstimulation Syndrome

A

Wt. gain and Enlarged ovaries after clomiphiene use for infertility

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

Adenomyosis

A

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

23
Q

Ashermans Syndrome

A

Uteriene scars from multiple D&Cs

24
Q

Endometriosis

A

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

25
Q

Leiomyoma

A
  • 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
26
Q

Epididymitis

A

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

27
Q

Condylomata lata

A

flat fleshy warts that ulcerate;
sign of secondary syphilis

28
Q

Condyloma accuminata

A

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

29
Q

Herpes

A

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

30
Q

Syphillis

A

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

31
Q

Congenital CMV

A
  • spastic diplegia of legs,
  • hepatosplenomegaly,
  • blinding,
  • Central calcifications
32
Q

Congenital Rubella Syndrome

A

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.

33
Q

Congenital Syphillis

A
  • Rhagades (lip fissures),
  • Saber shins (anterior bowing of the tibia),
  • Hutchinson’s razor teeth,
  • Mulberry molars
34
Q

Primary Ciliary Dyskinesia

A

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

35
Q

Maternal Serum AFP

A
  • 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)
36
Q

Sonic hedgehog (Shh) gene defect

A
  • Holoproencephaly
  • Patau syndrome (trisomy-13)
37
Q

Wnt-7 gene defect

A

Makes limbs more distal

38
Q

FGF gene mutation

A

Achondroplasia (FGFR-3)

39
Q

Homebox (HOX) gene defect

A
  • Apandeges in the wrong location
  • Polysandactyly
40
Q

ACEI & ARB’s as teratogens

A

Renal damage in fetus

41
Q

Kallman Syndrome

A
  • Anosmia + Tertiary Hypogonadism
  • Deficiency of GnRH secretion by hypothalamus
  • Renal insufficiency seen in ~50% of patients
42
Q

Androgen Insenstivity syndrome

A
  • Testes are present but female external phenotype
  • Testicular feminization
  • Testosterone is absent
43
Q

Endometritis

A
  • Inflamation of Endometrium
  • Most commonly due to retained products of conception
  • Presents in a setting of recent child birth, abortion, miscarriage
  • Abdominal pain
  • Fever
  • Uterine tenderness
  • Menstural abnormalities
  • Infertility

Rx : Gentamycin + Clindamycin

44
Q

Endometriosis

A
  • Endometrial tissue growing outside the uterus
  • Ovary most common location
  • Causes cyclical menstural bleeding from these sites
  • Blood Filled “ Choclate cysts”
  • Presents as:
    • Dysmenoria (Painful Menses)
    • Dysparinuia (Painful intercourse)
    • Infertility
    • Normal Size uterus
45
Q

Adenomyosis

A
  • Growth of Endometrial tissue inside myometrium
  • Uterus is large & bulky

Adneomyoma:
Benign tumor of endometrial gland & smooth muscles, its a type of adenomyosis

46
Q

Leiomyoma

A
  • Most common tumor in females, Beningn
  • Size directly related to estrogen stimulation
  • Grow with pregnancy & shrink with menopause
  • Abnormal uterine bleeding
  • Whroled smooth muscles, white on cross-section
47
Q

Leiomyosarcoma

A
  • Bulky irregularly shaped malignant tumor of uterine myometrial smooth muscles
  • Increase nuclear to cytoplasmic ratio, Mitotic figures
  • Donot originate from leiomyoma
  • Seen in middle aged women
48
Q

Meigs Syndrome

A
  • Seen in Fibromas
  • Traid of:
    • Ascites
    • Pleural Effusion
    • Ovarian Neoplasm
49
Q

Mature Cystic Teratoma

A

Aka Dermoid cyst

  • Contains Skin, Teeth, Hair
  • Multiple germ layer growth
  • Struma Ovarii: T3/T4 producing
50
Q

Breast Fibroadenoma

A
  • Most common Breast tumor
  • Classically younger women <35 yrs age
  • Small mobile mass well defined edges
51
Q

Intraductal Papiloma

A
  • Bloody nipple discharge with otherwise non severe presentation
  • Stalete morphology
52
Q

Ductal Carcinoma in Situ

A
  • Arises from ductal lumen
  • Underlies pagets disease of breast
  • Carcked nipple with underlying mass

Histology:

Well defined lines without penetration of basement membrane

53
Q

Pagets disease of Breast

A
  • Eczematous rash on nipple
  • Associated w underlying ductal carcinoma in situ
  • Large cells with halos
54
Q

Invasive breast carcinoma

A
  • Invasive breast carcinoma typically presents as an irregularly shaped, adherent breast mass.
  • The upper outer quadrants of the breast are the most common site of breast cancer.
  • Overlying skin retractions (puckering) signal involvement of suspensory ligaments of the breast (ie, Cooper ligaments).
  • Malignant infiltration of these ligaments causes fibrosis and shortening, leading to traction on the skin with distortion in breast contour.