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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.

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! Men With Cystic Fibrosis Are Having Children! Presentation Transcript

  • 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 Semen Analysis History Hormones Surgery Physical Genetic Tests Other Tests Sperm Processing ART
  • Medications Habits ExposureNitrofurantoin ETOH RadiationSulfasalazine Tobacco HeatCimetidine Steroids Pesticidesβ-blockers Marijuana LeadCa+ Chann. Block.Antipsychotics
  • Other Things that Matter Overall health Fevers Sulfa antibiotics Partner age and healthThings that Don’t Matter Age Anatomy CF mutation
  • Normal Male Anatomy
  • Physical Examination “Natural Vasectomy”
  • CBAVD
  • PROGENI® Infertility M.D. Provider (Male or Female) Medical Evaluation Genetic Counseling Y microdeletions Karyotype CFTR/5T Post-Test Counseling Treatment Plan
  • The Old Y
  • 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
  • Mullerian andWolffian DuctRelationships
  • 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
  • PROGENI® The First 500 Patients CAVD Idiop.Obstruction Other (3%) (12%)Nonobstructive Oligospermia Azoospermia (49%) (36%)
  • Sperm Retrieval ProceduresTechniques for Obstructive Azoospermia Vasal sperm Epididymal sperm PESA MESA Testis sperm TESA TESE
  • 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 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
  • 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
  • Microscopic Epididymal Sperm Aspiration (MESA)
  • 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
  • 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) – No incision – Low yield• Percutaneous biopsy of testis – No incision – Moderate yield – Risk for hematoma
  • Testicular Sperm Extraction (TESE) Window Biopsy Technique
  • Testicular PercBiopsy
  • 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
  • IVF, In Vitro Fertilization PGDIVFICSI
  • The Problem of Azoospermia Obstructive5% of infertile men Repair History ICSI Physical Exam Hormones SemenAnalysis ICSI Non-obstructive
  • Nonobstructive Azoospermia Testicular (TESA, TESE, MicrodissectionTESE) Surgeon beware!!
  • How “Patchy” or “Focal” is Sperm Production? 20 Bx-FNA Intratestis Intertestis Discrepancy Variability Variability - - Bx - + + 27% FNA + 25% of testes 19% of testes
  • Fine Needle Aspiration (FNA) MappingTemplate
  • Testis FNA Mapping Office FNA Map Sperm Found? Yes No IVF/ICSI Donor Sperm"Directed" TESE Adoption
  • CF and Having Children The problem is well defined. The solution is clear. Planning is important.