Men with CF are Having Children! Paul J. Turek, M.D. Director, The Turek Clinic Emeritus Professor, UCSF
I read in one of the papers that couples can getpregnant without sex. Is that true?                       A patient, 1998
Test Answers               CF and male fertility is an               easier problem!
Basic Male Evaluation                                     Medical                                     Therapy             ...
Medications         Habits      ExposureNitrofurantoin      ETOH        RadiationSulfasalazine       Tobacco     HeatCimet...
Other Things that Matter   Overall health   Fevers   Sulfa antibiotics   Partner age and healthThings that Don’t Matter   ...
Normal Male Anatomy
Physical Examination            “Natural Vasectomy”
CBAVD
PROGENI®              Infertility M.D.              Provider                 (Male or Female) Medical Evaluation          ...
The Old Y
The CFTR GeneThe Gene: CFTR, located 7q31.2          5T IVS8 (5T variant)Function:   Encodes the cyclic adenosine         ...
Mullerian andWolffian DuctRelationships
Congenital Absence of the Vas Deferens (CAVD) •Unilateral: most have no sperm counts •Bilateral: all have no sperm counts ...
PROGENI®          The First 500 Patients        CAVD  Idiop.Obstruction           Other (3%)        (12%)Nonobstructive   ...
Sperm Retrieval ProceduresTechniques for Obstructive Azoospermia   Vasal sperm   Epididymal sperm      PESA      MESA  Tes...
Obstructive Azoospermia   Vasal (MVSA; PVSA)   Epididymal (MESA, PESA)   Testicular (TESA, TESE,     MicrodissectionTESE)
Obstructive Azoospermia  Guideline: Least invasive, least damaging, best yield.Since assisted reproduction (IVF-ICSI) does...
Epididymal sperm• Microscopic/magnified epididymal sperm aspiration     (MESA)  – Open incision  – Use of optical magnific...
Microscopic Epididymal Sperm     Aspiration (MESA)
The Mini-MESA•Local +/- sedation          •Mean 2 pain pills•1-2 hours                   •Recovery 1-2 days•6-10 million m...
Percutaneous Epididymal Sperm Aspiration                 (PESA)
Why MESA and not PESA?  MESA              PESA1%      40% 5%   1%                    40% 5%40%                 8%
Testicular sperm• Testicular sperm extraction (TESE)   – Open incision   – High yield• Percutaneous sperm aspiration (TESA...
Testicular Sperm Extraction          (TESE)   Window Biopsy Technique
Testicular PercBiopsy
Treatment Needed: Assisted Reproduction                              Intrauterine              Sex                        ...
IVF, In Vitro Fertilization                        PGDIVFICSI
The Problem of Azoospermia                        Obstructive5% of infertile men                                        Re...
Nonobstructive Azoospermia         Testicular (TESA, TESE,           MicrodissectionTESE)    Surgeon beware!!
How “Patchy” or “Focal” is Sperm Production? 20     Bx-FNA         Intratestis     Intertestis    Discrepancy     Variabil...
Fine Needle Aspiration (FNA) MappingTemplate
Testis FNA Mapping           Office FNA Map            Sperm Found?     Yes                    No   IVF/ICSI           Don...
CF and Having Children The problem is well defined. The solution is clear. Planning is important.
Men With Cystic Fibrosis Are Having Children!
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Men With Cystic Fibrosis Are Having Children!

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Dr. Turek presented this lecture at the CFRI 25th National Cystic Fibrosis Family Education Conference, July 27 - 29, 2012 in Redwood City.

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Men With Cystic Fibrosis Are Having Children!

  1. 1. Men with CF are Having Children! Paul J. Turek, M.D. Director, The Turek Clinic Emeritus Professor, UCSF
  2. 2. I read in one of the papers that couples can getpregnant without sex. Is that true? A patient, 1998
  3. 3. Test Answers CF and male fertility is an easier problem!
  4. 4. Basic Male Evaluation Medical Therapy Semen Analysis History Hormones Surgery Physical Genetic Tests Other Tests Sperm Processing ART
  5. 5. Medications Habits ExposureNitrofurantoin ETOH RadiationSulfasalazine Tobacco HeatCimetidine Steroids Pesticidesβ-blockers Marijuana LeadCa+ Chann. Block.Antipsychotics
  6. 6. Other Things that Matter Overall health Fevers Sulfa antibiotics Partner age and healthThings that Don’t Matter Age Anatomy CF mutation
  7. 7. Normal Male Anatomy
  8. 8. Physical Examination “Natural Vasectomy”
  9. 9. CBAVD
  10. 10. PROGENI® Infertility M.D. Provider (Male or Female) Medical Evaluation Genetic Counseling Y microdeletions Karyotype CFTR/5T Post-Test Counseling Treatment Plan
  11. 11. The Old Y
  12. 12. The CFTR GeneThe Gene: CFTR, located 7q31.2 5T IVS8 (5T variant)Function: Encodes the cyclic adenosine monophosphate-regulated chloride channel in secretory epitheliaProblem: 1500+ mutations described
  13. 13. Mullerian andWolffian DuctRelationships
  14. 14. Congenital Absence of the Vas Deferens (CAVD) •Unilateral: most have no sperm counts •Bilateral: all have no sperm counts •Involves any segment of Wolffian duct •Seminal vesicle agenesis, cysts •Can have ejaculatory duct obstruction •Prostatic and utricular cysts •“Form fruste” of CF
  15. 15. PROGENI® The First 500 Patients CAVD Idiop.Obstruction Other (3%) (12%)Nonobstructive Oligospermia Azoospermia (49%) (36%)
  16. 16. Sperm Retrieval ProceduresTechniques for Obstructive Azoospermia Vasal sperm Epididymal sperm PESA MESA Testis sperm TESA TESE
  17. 17. Obstructive Azoospermia Vasal (MVSA; PVSA) Epididymal (MESA, PESA) Testicular (TESA, TESE, MicrodissectionTESE)
  18. 18. Obstructive Azoospermia Guideline: Least invasive, least damaging, best yield.Since assisted reproduction (IVF-ICSI) does not have a100% success rate, it behooves reproductive urologists todevelop and use sperm-retrieval techniques that are notonly reliable and of low morbidity, but that also have thepotential to harvest sufficient sperm to enable multipleIVF-ICSI attempts without repeat surgery Turek et al. Ass Reprod Rev. 1999, 9: 60-64
  19. 19. Epididymal sperm• Microscopic/magnified epididymal sperm aspiration (MESA) – Open incision – Use of optical magnification – High yield• Percutaneous sperm aspiration (PESA) – No incision – No magnification – Low yield
  20. 20. Microscopic Epididymal Sperm Aspiration (MESA)
  21. 21. The Mini-MESA•Local +/- sedation •Mean 2 pain pills•1-2 hours •Recovery 1-2 days•6-10 million moving sperm •<1% complication•Freeze-all approach •1% need repeating Nudell et al. Hum Reprod 1998, 13:1260
  22. 22. Percutaneous Epididymal Sperm Aspiration (PESA)
  23. 23. Why MESA and not PESA? MESA PESA1% 40% 5% 1% 40% 5%40% 8%
  24. 24. Testicular sperm• Testicular sperm extraction (TESE) – Open incision – High yield• Percutaneous sperm aspiration (TESA) – No incision – Low yield• Percutaneous biopsy of testis – No incision – Moderate yield – Risk for hematoma
  25. 25. Testicular Sperm Extraction (TESE) Window Biopsy Technique
  26. 26. Testicular PercBiopsy
  27. 27. Treatment Needed: Assisted Reproduction Intrauterine Sex IVF +/- ICSI Insemination $free $10,000 (IUI) $200-500>40 million 40 million 5 million 0 sperm sperm sperm sperm
  28. 28. IVF, In Vitro Fertilization PGDIVFICSI
  29. 29. The Problem of Azoospermia Obstructive5% of infertile men Repair History ICSI Physical Exam Hormones SemenAnalysis ICSI Non-obstructive
  30. 30. Nonobstructive Azoospermia Testicular (TESA, TESE, MicrodissectionTESE) Surgeon beware!!
  31. 31. How “Patchy” or “Focal” is Sperm Production? 20 Bx-FNA Intratestis Intertestis Discrepancy Variability Variability - - Bx - + + 27% FNA + 25% of testes 19% of testes
  32. 32. Fine Needle Aspiration (FNA) MappingTemplate
  33. 33. Testis FNA Mapping Office FNA Map Sperm Found? Yes No IVF/ICSI Donor Sperm"Directed" TESE Adoption
  34. 34. CF and Having Children The problem is well defined. The solution is clear. Planning is important.

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