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. Men with CF are Having Children! Paul J. Turek, M.D. Director, The Turek Clinic Emeritus Professor, UCSF
- 2. I read in one of the papers that couples can get pregnant without sex. Is that true? A patient, 1998
- 3. Test Answers CF and male fertility is an easier problem!
- 4. Basic Male Evaluation Medical Therapy Semen Analysis History Hormones Surgery Physical Genetic Tests Other Tests Sperm Processing ART
- 5. Medications Habits Exposure Nitrofurantoin ETOH Radiation Sulfasalazine Tobacco Heat Cimetidine Steroids Pesticides β-blockers Marijuana Lead Ca+ Chann. Block. Antipsychotics
- 6. Other Things that Matter Overall health Fevers Sulfa antibiotics Partner age and health Things that Don’t Matter Age Anatomy CF mutation
- 8. Physical Examination “Natural Vasectomy”
- 9. CBAVD
- 10. PROGENI® Infertility M.D. Provider (Male or Female) Medical Evaluation Genetic Counseling Y microdeletions Karyotype CFTR/5T Post-Test Counseling Treatment Plan
- 11. The Old Y
- 12. The CFTR Gene The Gene: CFTR, located 7q31.2 5T IVS8 (5T variant) Function: Encodes the cyclic adenosine monophosphate-regulated chloride channel in secretory epithelia Problem: 1500+ mutations described
- 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. PROGENI® The First 500 Patients CAVD Idiop.Obstruction Other (3%) (12%) Nonobstructive Oligospermia Azoospermia (49%) (36%)
- 17. Sperm Retrieval Procedures Techniques for Obstructive Azoospermia Vasal sperm Epididymal sperm PESA MESA Testis sperm TESA TESE
- 18. Obstructive Azoospermia Vasal (MVSA; PVSA) Epididymal (MESA, PESA) Testicular (TESA, TESE, MicrodissectionTESE)
- 19. Obstructive Azoospermia Guideline: Least invasive, least damaging, best yield. Since assisted reproduction (IVF-ICSI) does not have a 100% success rate, it behooves reproductive urologists to develop and use sperm-retrieval techniques that are not only reliable and of low morbidity, but that also have the potential to harvest sufficient sperm to enable multiple IVF-ICSI attempts without repeat surgery Turek et al. Ass Reprod Rev. 1999, 9: 60-64
- 20. 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
- 21. Microscopic Epididymal Sperm Aspiration (MESA)
- 22. 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
- 23. Percutaneous Epididymal Sperm Aspiration (PESA)
- 24. Why MESA and not PESA? MESA PESA 1% 40% 5% 1% 40% 5% 40% 8%
- 25. 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
- 26. Testicular Sperm Extraction (TESE) Window Biopsy Technique
- 28. 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
- 29. IVF, In Vitro Fertilization PGD IVF ICSI
- 30. The Problem of Azoospermia Obstructive 5% of infertile men Repair History ICSI Physical Exam Hormones SemenAnalysis ICSI Non-obstructive
- 31. Nonobstructive Azoospermia Testicular (TESA, TESE, MicrodissectionTESE) Surgeon beware!!
- 32. How “Patchy” or “Focal” is Sperm Production? 20 Bx-FNA Intratestis Intertestis Discrepancy Variability Variability - - Bx - + + 27% FNA + 25% of testes 19% of testes
- 33. Fine Needle Aspiration (FNA) Mapping Template
- 34. Testis FNA Mapping Office FNA Map Sperm Found? Yes No IVF/ICSI Donor Sperm "Directed" TESE Adoption
- 35. CF and Having Children The problem is well defined. The solution is clear. Planning is important.