Kramer Male Infertility

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Current Management of Male Infertility

Andrew Kramer, MD, MBAAssistant Professor, Department of Surgery,

Division of Urology

University of Maryland School of Medicine

Diagnostic and Genetic Considerations


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Outline:

Male Reproductive Anatomy

Male Reproductive History and Physical

Exam

Interpretation of the Semen Analysis

Selected Cases

Conclusion


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3 Cases:

1. Obstructive Azoospermia

2. Nonobstructive azoospermia

3. Inability to ejaculate


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A couple presents withinability to have children


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HPI:

Male: 34

2 yrs of unprotected intercourse

No children from previous relationships


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Exam:

Testes scrotally located and of normalsize and consistency

No vasa palpable

Only caput of epididymis present


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Semen Analysis:

Azoospermia


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Semen Analysis:

Volume: 0.5cc

Count: 0

pH: 6.5


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One Cause of ObstructiveAzoospermia

(congenital bilateral absence ofthe vas deferens)

* Caused by Mutations in CF genes


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Transmission Pattern:

F508/F508

Clinical CF

F508/5T

CBAVD

F508/+

carrier

5T/+

carrier

Male

Female

F508

F508

+

5T


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Clinical manifestation depends onthe amount of CFTR dysfunction


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CBAVD: obstructive azoospermia

CF gene is located on chromosome 7

Encodes a membrane protein called CFTR

(CF transmembrane conductanceregulator) that regulates Cl- balance

When abnormal, ion and water transport

across epithelial cells is altered causingtenacious sections

Thickett, K., Stableforth, D. et al. Awareness of infertility in men with cystic fibrosis. Fertility and Sterility.

Vol 76(2). August 2001, pp 407-408.


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Cystic Fibrosis Transmembrane Conductance Regulator

...

CF Gene

Chromosome # 7

CFTR


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Management:

Family counseling

MESA: microsurgical epididymalsperm aspiration

Congenital Bilateral Absence of the Vas Deferens


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EpididymalRemnant

Congenital Bilateral Absence of the Vas Deferens


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Infertility: Part II


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Infertility x 5 yrs

Husband: 45 Wife: 38

Wife has 2 children from a prior marriage


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Physical Exam:

Testes measure 1.5cm x 1.5cm in size,slightly soft

Vasa and epididymides feel normal

No varicocele


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Semen Analysis:

Volume: 3cc

Count: 0

Color: clear

pH: 8.1


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Hormone Studies:

FSH: 15.2 (normal 2-20)

LH: 5.1

Testosterone: 344 Prolactin: 8.5

Estradiol:


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Genetic Testing:

Karyotype: abnormalities range from 10-

15% in azoospermic men; Klinefeltersyndrome most common

Y-chromosome microdeletions: 13% ofmen with azoo or severe oligospermia

Oates, RD. Genetic considerations in the treatment of male infertility. Infert Reprod Med Clin NAmerica. Vol 13 (2002) 551-585.


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Y Chromosome

Short arm: SRY--acts as an architecturaltranscription factor instigating male

development Long arm: Contains genes critical to

spermatogenesis


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47, XXY Klinefelters Karyotype


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Infertility: Part III


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Married for 9 years with nopregnancies

Husband: 38 Wife: 37

PMH: 1985 testicular CA on left, s/porchiectomy, RPLND, and chemotherapy(cisplatinum/vinblastine/bleomycin)


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Ejaculatory Dysfunction:

Two Types:

Retrograde Ejaculation (backwards flow ofejaculate)

Anejaculation (failure of emission)


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Retrograde Ejaculation Diagnosis:

1. Void to completion

2. Ejaculation (collection any antegrade)

3. Void to completion ASAP: look at

sample for seminal fluidthen spin to 1cc,analyze pellet


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Anejaculation/Failure of Emission:

Failure of sympathetic nervous system dueto:

-Spinal cord injury

-RPLND (sympathetic nerve injury)

-D.M.


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Summary:

Evaluation of the

Infertile Male


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Goal of Evaluation:

1. Identify correctable causes

2. Identify irreversible causes that may beamenable to ARTs

3. Irreversible conditions which are notamenable to ARTs but donor sperm may be anoption

4. Reveal genetic abnormalities that may affecthealth of offspring if ARTs were to be used

Sharlip, Ira and Jarow, Jonathan et al. Best practice policies for male infertility.Fertility and Sterility, Volume77(5). May 2002. 873-882.


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Azoospermia: Etiology

1. Pretesticular: endocrine

2. Testicular: disorders of spermatogenesisintrinsic to testes (non-obstructive)

3. Post-testicular: ejaculatory dysfunction orobstruction of sperm delivery to meatus(obstructive)

Pre and Post testicular are often treated,primary testicular causes can still achievefertility


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Remember:

Always evaluate patients as a couple

Perform the womans workup

simultaneously to the mans Just because one member of the couple is

abnormal does NOT mean the other one is

normal: both warrant a full workup

Th E d


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The End

Andrew Kramer, MD, MBA

Division of Urology, Department of Surgery

Kramer Male Infertility

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