Male Infertility

Question 1

Surgical sperm extraction source preference

Answer 1

Epidydimal > testicular (when possible)

Question 2

Best predictor of success for vasectomy reversal

Answer 2

Time since vasectomy

Question 3

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

Answer 3

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

Question 4

Most likely abnormality found in fertile population

Answer 4

Abnormal SA

Question 5

Semen paramenter most likely associated with chromosomal abnormality

Answer 5

Low sperm count/concentration

Question 6

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

Answer 6

6-7%

Question 7

Sildenifil drug class/MOA

Answer 7

Phosphodiesterase 5 enzyme inhibitor (vasodilation)

Question 8

Sildenifil target population

Answer 8

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

Question 9

Sildenifil side effects

Answer 9

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

Question 10

What initiates spermatogenesis

Answer 10

Testosterone

Question 11

Initiation of spermatogenesis in hypo/hypo patient

Answer 11

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

Question 12

When do sperm get their final methylation marks?

Answer 12

Primary spermatocytes

Question 13

When do primary spermatocytes begin differentiation?

Answer 13

Puberty

Question 14

CBAVD genetics

Answer 14

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.

Question 15

Number of known mutations in CF

Answer 15

Over 1600 known mutations in CFTR gene

Question 16

Classic mutation for CF

Answer 16

Delta 508 mutation

Question 17

Other common mutations to know in CF

Answer 17

5T splice variants

Question 18

How many patients with CF have CBAVD?

Answer 18

Nearly all

Question 19

Males with 5T variant and delta 508 mutation phenotype

Answer 19

Have CBAVD but not CF

Question 20

Location of Y chromosome microdeletions

Answer 20

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

Question 21

SA results by location of Y chromosome microdeletions

Answer 21

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

Question 22

Percentage of men with Y chromosome microdeletion with small testicular volume

Answer 22

25%

Question 23

Klinefelter syndrome prevalence

Answer 23

1/1000 men

Question 24

Klinefelter syndrome genetics

Answer 24

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

Question 25

Klinefelter syndrome clinical presentation

Answer 25

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

Question 26

Klinefelter syndrome male offspring genetics

Answer 26

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

Question 27

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

Answer 27

Androgen receptor gene (AIS)

Question 28

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

Answer 28

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

Question 29

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

Answer 29

AZF (Y-chromosome microdeletion/azoospermia)

Question 30

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

Answer 30

SRY (Swyer)