Male infertility

Question 1

• Typically endocrinopathies and Highly treatable
• May be associated with important medical problems (pituitary tumors, significant hypogonadism)

Answer 1

• Pre-testicular cause of male infertility

Question 2

Most common and usually reversible

•Includes varicoceles, gonadotoxins, as well as primary testicular problems

Answer 2

Testicular infertility

Question 3

Obstruction and Ejaculation disorders

Answer 3

Post-testicular

Question 4

•28 yo male comes in for evaluation of inability to conceive with his 27 yo wife

• Past medical/surgical history is negative/No meds, drug allergies
• Minimal EtOH, no tobacco, no street drugs /ROS is negative Exam demonstrates:•Normal male body habitus/No gynecomastia/Circumcised penis without lesions
• Testes descended, 20 cc on right, 16 cc on left, no masses
• Vasa and epididymides palpable without abnormalities
• **Grade 3 left varicocele **

Answer 4

need to exam when standing

Question 5

Pt has issues conceiving with wife, you see grade 3 left varicocele, what is your next step in a work up (youve gotten a detailed history)

Answer 5

Semen analysis

Question 6

Four key workups when eval of the infertile male?

Answer 6

• Full history and physical exam
• Semen analysis (>2)
• Hormone studies to examine HPG axis (typically, total testosterone and FSH, reserve LH, estradiol, and prolactin if testosterone is low).
• Scrotal U/S if testicular abnormality identified

Question 7

Key guidelines for standard semen analysis

Answer 7

>2 samples; will see flucuation

3-5 day abstinence

Collection: masturbation, coitus interruptus, condom

container free of spermatoxic agents

Question 8

serum analysis

• Volume >
• Concentration >
• Motility >

Answer 8

• Volume > 1.5-2 mL
• Concentration > 20 million/mL
• Motility > 50%

Question 9

Serum analysis

Total motile sperm >
• Total sperm >
• Absence of WBCs, RBCs, or bacteria

Answer 9

Total motile sperm >20 million
• Total sperm >40 million
• Absence of WBCs, RBCs, or bacteria

Question 10

how long do we need to wait to see if intervention with sperm have worked?

Answer 10

• 70 days stem cell- spermatozoa
• 20 days transit epididymis
• **90 days to reflect change in SA **

Question 11

What hormone testing is done for men with infertility?

Answer 11

FSH and testosterone

Question 12

• If testosterone low, repeat in early AM, would also order ____, _____, _____
• Yield for significant endocrinology low if sperm concentration _____

Answer 12

LH, prolactin, estradiol

>10 million/cc

Question 13

•Semen analysis demonstrates the following:

• Vol 3.5 mL (N>1.5 mL)
• Sperm concentration 8 million/mL (N>20)
• Sperm motility 35% (N>50%)
• Total motile sperm/ejaculate 9.8 million (N>20)
• Total testosterone 440 ng/dL (N=280-800) •FSH 5.6 IU (N=1.5-10.0)

of these which is concerning?

Answer 13

the low sperm motility

the normal testosterone and FSH tell us HPG axis is intact

Question 14

How can varicocele cause infertility?

Answer 14

because increases the temperature of the sperm and the environment they are in.

Question 15

most common causes of male infertility

Answer 15

varicocele and idiopathic

can have testicular failure or obstruction or cryptorchidism

Question 16

• Countercurrent heat exchange keeps testis ___ cooler than body temp.
• Varicocele destroys this system, resulting in higher intra-testicular temp.
• Other co-factors, including hormonal and genetic abnormalities, important.
• However, correction of varicocele results in clinical improvement.

Answer 16

2-4o C

Question 17

Pt has 2 yr history of trying to concieve with wife. non palpable epididymis and vasa on physical exam. Everything else normal.

SA:

volume: .5 ml (N>1.5ml)

pH 5.5 (N>7.2)

Sperm concentration 0 (N>20)

all other semem characteristics normal

what do we do next?

Answer 17

CFTR analysis when you see acidic, low sperm concentraiton and low sperm volume

Question 18

80-90% CBAVD associated with mutation of at least one

Answer 18

Cystic Fibrosis Transmembrane-conductance Regulator (CFTR) gene

Question 19

• Most cases of CBAVD are genetic in origin and are______
• Incidence ____of men presenting with infertility

Answer 19

autosomal recessive.

1-2%

Question 20

• CFTR mutation common in general Caucasian population (~1 in 25)
• Of these men, most will have 2 mutations, with the second often on the _____

Answer 20

5T allele

Question 21

CFTR mutation cause____ of the genital ducts during embryogenesis but________ is not impaired

Answer 21

involution

Spermatogenesis

Question 22

You find that the cause of your pts infertility is due to CFTR mutation, what shoud you recommend for this patient?

Answer 22

Genetic counseling is essential including CTFR testing for both partners

Question 23

CBAVD stands for

Answer 23

congenital bilateral absence of vas deferens, often associated with cystic fibrosis

Question 24

YOur pt has absent epididymis and vas deferens thus can make sperm but not carrier fluid. He tests negative for CFTR, what associated anomaly would we expect to see in our pt?

Answer 24

renal agenesis/anomalies

Question 25

gives rise to ureteral bud, as well as SV, vas deferens, lower 2/3 of epididymis

Answer 25

Mesonephric duct

Question 26

•Defects in mesonephric duct early (6th week of gestation), leads to

Answer 26

agenesis of genital ducts and ipsilateral kidney

Question 27

Your pt has CBAVD but negative for CFTR, what test is indicted next?

Answer 27

do a renal ultrasound; usually associated with renal agenesis dt defect in mesonephric duct early on (6th week of gestation)

Question 28

What should be first step in evaluation of male fertility?

How many SA’s necessary to get baseline of semen parameters?

Answer 28

Detailed, yet focused, history and physical exam

need at least 2

Question 29

most common disorder of chromosomal number in men, occuring in up to 1 in 500 live male births with triad of smal firm testes, azoospermia and gynecomastia

Answer 29

Klinefelters syndrome: XXY; some have mosaic

Question 30

necessary for gonadal differentiaion. responsible for testis formaiton and spermatogeneis

Answer 30

Y chromosome; specifically the SRY gene on short arm of Y

Question 31

Abnormal dilation of pampinform plexus of internal spermatic veins, typically occur on left side and may be bilateral

Answer 31

varicocele

Question 32

It is recommended that all men with azoospermia or severe oligospermia (<2million/mL) be offered karyotypic and genetic testing, including eval of Y chromosome microdeletions