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2022 REI Written Boards > Male Repro/Infertility > Flashcards

Male Repro/Infertility Flashcards

(70 cards)

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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
Klinefelter syndrome clinical presentation
Primary testicular failure (azoospermia, low T), decreased intelligence, long arms/legs, increased risk of breast cancer (unopposed estrogen), cryptorchidism [NOT delayed puberty]
26
Klinefelter syndrome male offspring genetics
Offspring (following TESE/ICSI) most likely to have normal, 46XY karyotype
27
Mutations of long arm (q) of X chromosome (1)
Androgen receptor gene (AIS)
28
Mutations of short arm (p) of X chromosome (5)
KAL gene (Kallman’s), FMNR1 gene (Fragile-X), DAX-1 (gonadal dysgenesis), Steroid sulfatase gene (Icthyosis), SHOX (Turner’s; pseudoautosomal region)
29
Mutations of long arm (q) of Y chromosome (1)
AZF (Y-chromosome microdeletion/azoospermia)
30
Mutations of short arm (p) of Y chromosome (1)
SRY (Swyer)
31
**Where does the sperm become capable of fertilization?**
Cauda epididymis
32
Path of of sperm maturation
* Seminiferous tubules * *Start of spermatogenesis – contain spermatogonium* * *Spermatogenesis begins at wall and completes at lumen* * Rete testis * Caput epididymis * Corpus epididymis * Cauda epididymis
33
What is the acrosome reaction? What ZP is needed?
Enables sperm to penetrate the zona pellucida Initiated by contact between the sperm and the zona ZP3
34
What acrosomal enzymes does ZP3 binding release?
Hyaluronidase Acrosin
35
Steps for sperm process to increase fertility success?
1. Washing 2. Swim-up 3. Density gradient centrifuge 4. Test egg yolk buffer w/ preincubation (?)
36
Prevalence of azoospermia (in gen pop & infertiles)
* 1% of general population * 10-15% of infertile men
37
Types of azoospermia, %, causes
Obstructive (40%) - infx, trauma, CBAVD Non-obstructive (60%) - hypo/hypo, hyperPRL, testicular failure
38
When to do testicular biopsy?
azoospermia & normal hormone levels (non-obstructive)
39
What does a fructose test for obstruction look at?
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
normal semen - alkaline or acidic?
alkaline
41
prostatic secretions are…acidic or basic?
acidic (and no fructose)
42
% of males w/ azoospermia are due to CF or AZF mutation
CF: 10% AZF: 8%
43
Which race is at highest/lowest risk for CF?
* **White 1:3,000** * Hispanic 1:9,000 * Native American 1:11,000 * Black 1:15,000 * **Asian 1:30,000**
44
Immotile cilia syndrome Inheritence? Symptoms? Screen? Associated condition? How to treat?
AR Sx: Chronic cough, Chronic rhinitis, Chronic sinusitis, Infertility Screen: exhaled NO 50% have situs inversus Male - ICSI (female, 50% will have subfertility)
45
What sperm cells affected by chemo?
Spermatogonia
46
What % of men w/ Hodgkin’s Lymphoma have abnormal SA?
60%
47
Sperm antibodies - prevalence? SA shows? dx?
4-8% of subfertile men clumping/agglutination +/- isolated asthenozoospermia (reduced motility) Diagnosed using beads/latex particles with attached antibodies
48
Components of Leydig Cell Regulation (3)
1. LH stimulates T production 2. Prolactin induces expression of LH receptor 3. Signaling by cytokines & growth factors from the Sertoli cell
49
Components of Sertoli Cell Regulation (3)
1. FSH stimulates inhibin production to feedback to pituitary 2. Testosterone - androgen receptors on Sertoli cells 3. Local growth factors
50
When is fetal form of Leydig cell active?
8-18w, then later at puberty
51
What cell forms the blood-testis barrier?
Sertoli cells
52
Most common congenital abnormality in males?
**Cryptorchidism (1 in 30)** (Hypospadias is 1 in 250)
53
Evolution of sperm germ cell
54
Inactivating FSHR mutation in men - what is the problem?
subfertile w/ reduced testis size, but **not** azoospermic (tells you spermatogenesis is mainly LH/T-dependent)
55
FSH & LH & T roles in spermatogenesis
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
Spermatogenesis vs Spermiogenesis
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
How many & what types of Spermatogonia?
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
What acts directly on the spermatogonia to stimulate their entry into the meiotic pathway and differentiate into type B spermatogonia?
Retinoic acid
59
What are Type B Spermatogonia?
Able to differentiate into spermatocytes that enter meiosis
60
Spermiogenesis: What does the sperm start out as? and what 3 things need to occur?
Round Spermatid 1. Development of the acrosome (sock over the head) 2. Development of flagellum 3. Nuclear condensation
61
What does the acrosome store?
Hydrolytic enzymes needed to penetrate ZP
62
Where do sperm acquire a forward motility & fertilizing potential?
Epididymis (head → body → tail) Sperm should be immotile (maybe vibrating) in testis
63
How long does spermatogenesis take? How long does sperm migration through epididymis take?
spermatogenesis: ~74d epididymis: ~10-16d **90d total**
64
Where are mature sperm stored?
In cauda epididymis & vas deferens
65
Components of Spermatic cord (4)
Vas deferens Cremaster muscle Spermatic artery Veins of Pampiniform plexus
66
Volume & % of ejaculate provided by Seminal Vesicle
2-2.5 mL or 45-80% of ejaculate
67
Volume & % of ejaculate provided by Prostate
0.5 mL or 15-30% of ejaculate
68
Where do enzymes for coagulation of ejaculate come from?
Seminal Vesicle
69
What is in prostatic fluid? (5)
1. citric acid 2. acid phosphatase 3. calcium 4. zinc 5. enzymes which cause liquefaction of ejaculate coagulum (kallikrein)
70
Tissue masses in penis (3)
Corpora cavernosa (right and left) Corpus spongiosum

2022 REI Written Boards (21 decks)

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