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Rapid Review Step 1 > Reproductive System > Flashcards

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

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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

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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
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4
Q

21 Hydroxylase Deficiency

A
  • Increased 17-hydroxyprogesterone
  • Increased testosterone
  • hypotension, hyponatremia, and hyperkalemia
  • Low Cortisol and Aldosterone
  • Low BP
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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
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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.
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7
Q

Down Syndrome

A
  • Trisomy 21
  • Causes: Meiotic Non-disjunction or less commonly Robertsonian translocation (14:21)
  • Intellectual Disability
  • Advanced maternal age (>35 yrs)
  • Single palmer crease
  • Quadruple Screening: ↓ AFB , ↓ Unconjugated Estriol, ↑ Nuchal translucency, ↑ B-Hcg , ↑ Inhibin-A

Down Syndrome Comorbidities:

  • Neurologic: Intellectual disability, Early-onset Alzheimer disease
  • Cardiac: Complete atrioventricular septal defect, ASD, VSD
  • Gastrointestinal: Duodenal atresia, Hirschsprung disease
  • Endocrine: Hypothyroidism , Type 1DM , Obesity, Short stature
  • Oncological: Acute leukemia (APML & ALL)
  • Orthopedic: Atlantoaxial instability
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8
Q

Paget disease of the breast

A

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

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9
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

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10
Q

HELLP Syndrome

A

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

Schistiocytes are seen on PBS.

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11
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)

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12
Q

Amniotic Fluid Emboli

A

SOB after Delivery

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13
Q

Placenta Percerata

A

Placenta perforates through Serosa

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14
Q

Complete Molar Pregnancy

A

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

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15
Q

Abruptio Placenta

A

Severe pain due to premature seperation of placenta

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16
Q

Incomplete Molar Pregnancy

A

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

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17
Q

Placenta previa

A

Placenta completely or partially implanted in lower uterine segment

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18
Q

Placenta Accereta

A

Placenta attached to endometrium

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19
Q

Post-partum psychosis

A

Hallucination, Suicidal, Infanticidal

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20
Q

Post-partum depression

A

Depression after delivery for >2 weeks

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21
Q

B-hcg

A

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

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22
Q

Ovarian Hyperstimulation Syndrome

A

Wt. gain and Enlarged ovaries after clomiphiene use for infertility

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23
Q

Adenomyosis

A

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

24
Q

Ashermans Syndrome

A

Uteriene scars from multiple D&Cs

25
Endometriosis
painful cyclical heavy menstrual bleeding, powder burns and chocolate cysts due to ectopic endometrial tissue
26
Leiomyoma
- 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
27
Epididymitis
Unilateral Scrotal pain decreased by support MCC chlamydia trachomatis, N.gonorrhea, E.coli
28
Condylomata lata
flat fleshy warts that ulcerate; sign of secondary syphilis
29
Condyloma accuminata
verrucous "cauliflower" warts, kilocytes; due to HPV 6 and 11
30
Herpes
Primary: painful grouped vesicles on red base Secondary: painful solitary lesion
31
Syphillis
Primary: painless chancre, 1-6 weeks Secondary: rash and condyloma lata, after 6 weeks Tertiary: neurological and cardiac issues, in bones, after 6 years
32
Congenital CMV
- spastic diplegia of legs, - hepatosplenomegaly, - blinding, - Central calcifications
33
Congenital Rubella Syndrome
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.
34
Congenital Syphillis
- Rhagades (lip fissures), - Saber shins (anterior bowing of the tibia), - Hutchinson's razor teeth, - Mulberry molars
35
Primary Ciliary Dyskinesia
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
36
Maternal Serum AFP
- 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)
37
Sonic hedgehog (Shh) gene defect
- Holoproencephaly - Patau syndrome (trisomy-13)
38
Wnt-7 gene defect
Makes limbs more distal
39
FGF gene mutation
Achondroplasia (FGFR-3)
40
Homebox (HOX) gene defect
- Apandeges in the wrong location - Polysandactyly
41
ACEI & ARB’s as teratogens
Renal damage in fetus
42
Kallman Syndrome
- Anosmia + Tertiary Hypogonadism - Deficiency of GnRH secretion by hypothalamus - Renal insufficiency seen in ~50% of patients
43
Androgen Insenstivity syndrome
- Testes are present but female external phenotype - Testicular feminization - Testosterone is absent
44
Endometritis
- 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
45
Endometriosis
- 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
46
Adenomyosis
- Growth of Endometrial tissue inside myometrium - Uterus is large & bulky Adneomyoma: Benign tumor of endometrial gland & smooth muscles, its a type of adenomyosis
47
Leiomyoma
- 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
48
Leiomyosarcoma
- 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
49
Meigs Syndrome
- Seen in Fibromas - Traid of: - Ascites - Pleural Effusion - Ovarian Neoplasm
50
Mature Cystic Teratoma
Aka Dermoid cyst - Contains Skin, Teeth, Hair - Multiple germ layer growth - Struma Ovarii: T3/T4 producing
51
Breast Fibroadenoma
- Most common Breast tumor - Classically younger women <35 yrs age - Small mobile mass well defined edges
52
Intraductal Papiloma
- Bloody nipple discharge with otherwise non severe presentation - Stalete morphology
53
Ductal Carcinoma in Situ
- Arises from ductal lumen - Underlies pagets disease of breast - Carcked nipple with underlying mass Histology: Well defined lines without penetration of basement membrane
54
Pagets disease of Breast
- Eczematous rash on nipple - Associated w underlying ductal carcinoma in situ - Large cells with halos
55
Invasive breast carcinoma
- 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.

Rapid Review Step 1 (24 decks)

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