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2022 REI Written Boards > Male Repro/Infertility > Flashcards

Male Repro/Infertility Flashcards

1
Q

Surgical sperm extraction source preference

A

Epidydimal > testicular (when possible)

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2
Q

Best predictor of success for vasectomy reversal

A

Time since vasectomy

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3
Q

Time since vasectomy and pregnancy rates after reversal (<3, 3-8, 9-14, and 15+ years)

A

< 3 years -> 76% pregnancy rate
3-8 years -> 53% pregnancy rate
9-14 years > 44% pregnancy rate
15+ years -> 30% pregnancy rate

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4
Q

Most likely abnormality found in fertile population

A

Abnormal SA

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5
Q

Semen paramenter most likely associated with chromosomal abnormality

A

Low sperm count/concentration

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6
Q

Rate of karyotypic abnormality in fetuses conceived via ICSI in men with severe oligospermia

A

6-7%

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7
Q

Sildenifil drug class/MOA

A

Phosphodiesterase 5 enzyme inhibitor (vasodilation)

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8
Q

Sildenifil target population

A

Effective in the setting of spinal cord injury and peripheral neuropathy (NOT peripheral vasculopathy)

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9
Q

Sildenifil side effects

A

Priapism, color vision, dyspepsia (NOT ptosis/proptosis)

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10
Q

What initiates spermatogenesis

A

Testosterone

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11
Q

Initiation of spermatogenesis in hypo/hypo patient

A

HCG (if testicular volume >4 mL) +/- HMG/FSH (if not responsive)

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12
Q

When do sperm get their final methylation marks?

A

Primary spermatocytes

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13
Q

When do primary spermatocytes begin differentiation?

A

Puberty

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14
Q

Cystic Fibrosis & CBAVD genetics

A

Either compound heterozygotes (carrying different mutations in their two CFTR genes) or carry a mutation in one of their CFTR genes and an intron 8 5T splice variant, associated with low levels of functional CFTR protein, in their second gene.

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15
Q

Number of known mutations in CF

A

Over 1600 known mutations in CFTR gene

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16
Q

Classic mutation for CF

A

Delta 508 mutation

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17
Q

Other common mutations to know in CF

A

5T splice variants

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18
Q

How many patients with CF have CBAVD?

A

Nearly all (>75%)

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19
Q

Males with 5T variant and delta 508 mutation phenotype

A

Have CBAVD but not CF

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20
Q

Location of Y chromosome microdeletions

A

Y microdeletions occur on the long arm of the Y chromosome (q11)

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21
Q

SA results by location of Y chromosome microdeletions

A

o Deletions in the AZF (azospermia factor) A (“awful”) or B (“bad”) typically result in azosopermia
o Deletions in AZF C region cause infertility of varying severity, ranging from oligospermia to azoospermia

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22
Q

Percentage of men with Y chromosome microdeletion with small testicular volume

A

25%

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23
Q

Klinefelter syndrome prevalence

A

1/1000 men

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24
Q

Klinefelter syndrome genetics

A

47 XXY
o Related to androgen receptor on X chromosome (increase CAG repeats, decrease receptor activity)
o Phenotype varies with number of X chromosomes

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25
Q

Klinefelter syndrome clinical presentation

A

Primary testicular failure (azoospermia, low T), decreased intelligence, long arms/legs, increased risk of breast cancer (unopposed estrogen), cryptorchidism [NOT delayed puberty]

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26
Q

Klinefelter syndrome male offspring genetics

A

Offspring (following TESE/ICSI) most likely to have normal, 46XY karyotype

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27
Q

Mutations of long arm (q) of X chromosome (1)

A

Androgen receptor gene (AIS)

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28
Q

Mutations of short arm (p) of X chromosome (5)

A

KAL gene (Kallman’s), FMNR1 gene (Fragile-X), DAX-1 (gonadal dysgenesis), Steroid sulfatase gene (Icthyosis), SHOX (Turner’s; pseudoautosomal region)

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29
Q

Mutations of long arm (q) of Y chromosome (1)

A

AZF (Y-chromosome microdeletion/azoospermia)

30
Q

Mutations of short arm (p) of Y chromosome (1)

A

SRY (Swyer)

31
Q

Where does the sperm become capable of fertilization?

A

Cauda epididymis

32
Q

Path of of sperm maturation

A
  • Seminiferous tubules
  • Start of spermatogenesis – contain spermatogonium
  • Spermatogenesis begins at wall and completes at lumen
  • Rete testis
  • Caput epididymis
  • Corpus epididymis
  • Cauda epididymis
33
Q

What is the acrosome reaction? What ZP is needed?

A

Enables sperm to penetrate the zona pellucida

Initiated by contact between the sperm and the zona

ZP3

34
Q

What acrosomal enzymes does ZP3 binding release?

A

Hyaluronidase

Acrosin

35
Q

Steps for sperm process to increase fertility success?

A
  1. Washing
  2. Swim-up
  3. Density gradient centrifuge
  4. Test egg yolk buffer w/ preincubation (?)
36
Q

Prevalence of azoospermia (in gen pop & infertiles)

A
  • 1% of general population
  • 10-15% of infertile men
37
Q

Types of azoospermia, %, causes

A

Obstructive (40%) - infx, trauma, CBAVD

Non-obstructive (60%) - hypo/hypo, hyperPRL, testicular failure

38
Q

When to do testicular biopsy?

A

azoospermia & normal hormone levels (non-obstructive)

39
Q

What does a fructose test for obstruction look at?

A

to rule out possible ejaculatory duct obstruction or agenesis of seminal vesicles or CBAVD

fructose comes from seminal vesicles - if low, then agenisis or CBAVD (usually they also dont have a seminal vesicle)

40
Q

normal semen - alkaline or acidic?

A

alkaline

41
Q

prostatic secretions are…acidic or basic?

A

acidic (and no fructose)

42
Q

% of males w/ azoospermia are due to CF or AZF mutation

A

CF: 10%

AZF: 8%

43
Q

Which race is at highest/lowest risk for CF?

A
  • White 1:3,000
  • Hispanic 1:9,000
  • Native American 1:11,000
  • Black 1:15,000
  • Asian 1:30,000
44
Q

Immotile cilia syndrome

Inheritence? Symptoms? Screen? Associated condition? How to treat?

A

AR

Sx: Chronic cough, Chronic rhinitis, Chronic sinusitis, Infertility

Screen: exhaled NO

50% have situs inversus

Male - ICSI (female, 50% will have subfertility)

45
Q

What sperm cells affected by chemo?

A

Spermatogonia

46
Q

What % of men w/ Hodgkin’s Lymphoma have abnormal SA?

A

60%

47
Q

Sperm antibodies - prevalence? SA shows? dx?

A

4-8% of subfertile men

clumping/agglutination +/- isolated asthenozoospermia (reduced motility)

Diagnosed using beads/latex particles with attached antibodies

48
Q

Components of Leydig Cell Regulation (3)

A
  1. LH stimulates T production
  2. Prolactin induces expression of LH receptor
  3. Signaling by cytokines & growth factors from the Sertoli cell
49
Q

Components of Sertoli Cell Regulation (3)

A
  1. FSH stimulates inhibin production to feedback to pituitary
  2. Testosterone - androgen receptors on Sertoli cells
  3. Local growth factors
50
Q

When is fetal form of Leydig cell active?

A

8-18w, then later at puberty

51
Q

What cell forms the blood-testis barrier?

A

Sertoli cells

52
Q

Most common congenital abnormality in males?

A

Cryptorchidism (1 in 30)

(Hypospadias is 1 in 250)

53
Q

Evolution of sperm germ cell

A
54
Q

Inactivating FSHR mutation in men - what is the problem?

A

subfertile w/ reduced testis size, but not azoospermic

(tells you spermatogenesis is mainly LH/T-dependent)

55
Q

FSH & LH & T roles in spermatogenesis

A

FSH moreso for QUANTITY, not QUALITY

LH/T has no role in spermatogonial proliferation and maturation but it supports spermatocyte and spermatid survival probably by an antiapoptotic mechanism

T is absolutely required for the second meiotic division in meiosis (but has synergy w/ FSH)

56
Q

Spermatogenesis

vs

Spermiogenesis

A

Spermatogenesis - A dynamic process that results in the continuous production of sperm (1. Mitotsis/proliferation, 2. Meiosis (where crossing-over occurs), 3. Spermiogenesis)

Spermiogenesis - Differentiation/cellular remodeling of haploid spermatids to mature sperm

57
Q

How many & what types of Spermatogonia?

A
  1. Stem Cell Spermatogonia: Capable of reestablishing spermatogenesis after toxic insult
  2. Proliferative Spermatogonia: Undifferentiated and undergo self-renewal (forms the pool of sperm)
  3. Differentiating spermatogonia: Committed to enter the pathway resulting in production of mature sperm
58
Q

What acts directly on the spermatogonia to stimulate their entry into the meiotic pathway and differentiate into type B spermatogonia?

A

Retinoic acid

59
Q

What are Type B Spermatogonia?

A

Able to differentiate into spermatocytes that enter meiosis

60
Q

Spermiogenesis:

What does the sperm start out as? and what 3 things need to occur?

A

Round Spermatid

  1. Development of the acrosome (sock over the head)
  2. Development of flagellum
  3. Nuclear condensation
61
Q

What does the acrosome store?

A

Hydrolytic enzymes needed to penetrate ZP

62
Q

Where do sperm acquire a forward motility & fertilizing potential?

A

Epididymis (head → body → tail)

Sperm should be immotile (maybe vibrating) in testis

63
Q

How long does spermatogenesis take?

How long does sperm migration through epididymis take?

A

spermatogenesis: ~74d
epididymis: ~10-16d

90d total

64
Q

Where are mature sperm stored?

A

In cauda epididymis & vas deferens

65
Q

Components of Spermatic cord (4)

A

Vas deferens

Cremaster muscle

Spermatic artery

Veins of Pampiniform plexus

66
Q

Volume & % of ejaculate provided by Seminal Vesicle

A

2-2.5 mL or 45-80% of ejaculate

67
Q

Volume & % of ejaculate provided by Prostate

A

0.5 mL or 15-30% of ejaculate

68
Q

Where do enzymes for coagulation of ejaculate come from?

A

Seminal Vesicle

69
Q

What is in prostatic fluid? (5)

A
  1. citric acid
  2. acid phosphatase
  3. calcium
  4. zinc
  5. enzymes which cause liquefaction of ejaculate coagulum (kallikrein)
70
Q

Tissue masses in penis (3)

A

Corpora cavernosa (right and left)

Corpus spongiosum

2022 REI Written Boards (21 decks)

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