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The Birds and the Bees: CF and Sexuality

The Birds and the Bees: CF and Sexuality. Paul J. Turek, M.D. Director, The Turek Clinic Emeritus Professor, UCSF. Sexuality and CF: Women. Delayed puberty Amenorrhea Reduced libido ?Fertility effects cervical mucus thinning. Consequence of nutritional issues and not CF.

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The Birds and the Bees: CF and Sexuality

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  1. The Birds and the Bees: CF and Sexuality Paul J. Turek, M.D. Director, The Turek Clinic Emeritus Professor, UCSF

  2. Sexuality and CF: Women • Delayed puberty • Amenorrhea • Reduced libido • ?Fertility effects • cervical mucus thinning Consequence of nutritional issues and not CF

  3. Sexuality and CF: Female Fertility • From mouse models: • Smaller litter size • Reduced number of litters • Consequence of: • Smaller uterine, ovarian size • Abnormal estrous cycles • Fewer ovulations Hodges et al. Endocrinol. 2008, 149, 2790

  4. Sexuality and CF: Pregnancy • Respiratory status: hypertension, infection • Lung transplants: organ rejection • Glycemic control • General obstetrical and nutritional fitness Not terribly well delineated at this point Whitty JE. Clin Obstet Gynecol. 2010, 53: 369-76

  5. Sexuality and CF: Motherhood The biggest threats to Mom’s life: • Sleepness nights • Schoolyard sniffles

  6. I read in one of the papers that couples can get pregnant with sex. Is that true? A patient, 1998

  7. Sexuality and CF: Men • Fertility • Erections

  8. Basic Male Evaluation Medical Therapy Semen Analysis History Hormones Surgery Physical Genetic Tests Other Tests Sperm Processing ART

  9. Normal Male Anatomy

  10. Physical Examination “Natural Vasectomy”

  11. CBAVD

  12. Test Answers CF and male fertility is an easier problem!

  13. PROGENI Infertility M.D. Provider (Male or Female) Medical Evaluation Genetic Counseling Y microdeletions Karyotype CFTR/5T Post-Test Counseling Treatment Plan

  14. 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

  15. Mullerian and Wolffian Duct Relationships

  16. Congenital Absence of the Vas Deferens (CAVD) • Unilateral: most azoospermic • Bilateral: all azoospermic • Involves any segment of Wolffian duct • Seminal vesicle agenesis, cysts • Can have ejaculatory duct obstruction • Prostatic and utricular cysts • If ipsilateral kidney absent: • No CFTR mutations • If ipsilateral kidney present: • 80% have CFTR mutations • “Form fruste” of CF

  17. PROGENIThe First 500 Patients CAVD Idiop.Obstruction (12%) Other (3%) Nonobstructive Azoospermia (36%) Oligospermia (49%)

  18. Sperm Retrieval Procedures Techniques for Obstructive Azoospermia Vasal sperm Epididymal sperm PESA MESA Testis sperm TESA TESE

  19. Obstructive Azoospermia Vasal (MVSA; PVSA) Epididymal (MESA, PESA) Testicular (TESA, TESE, MicrodissectionTESE)

  20. Obstructive Azoospermia Guideline: Least invasive, least damaging, best yield. Turek et al. Ass Reprod Rev. 1999, 9: 60-64

  21. Microscopic Epididymal Sperm Aspiration (MESA)

  22. The Mini-MESA • Mean 2 pain pills • Recovery 1-2 days • <1% complication • 1% need repeating • Local +/- sedation • 6-10 million TMC • Freeze-all approach

  23. Testicular Sperm Extraction (TESE) Window Biopsy Technique

  24. Repair ICSI History Physical Exam Hormones SemenAnalysis ICSI The Problem of Azoospermia Obstructive 5% of infertile men Non-obstructive

  25. Nonobstructive Azoospermia Testicular (TESA, TESE, MicrodissectionTESE) Surgeon beware!!

  26. How “Patchy” or “Focal” is Sperm Production? Bx-FNA Intratestis Intertestis Discrepancy Variability Variability - - - Bx + + 27% FNA + 25% of testes 19% of testes

  27. Testis FNA Mapping Office FNA Map Sperm Found? Yes No Donor Sperm IVF/ICSI Adoption "Directed" TESE

  28. Fine Needle Aspiration (FNA) Mapping

  29. Other Sexual Dysfunction: Erectile dysfunction Premature ejaculation Retrograde ejaculation Low libido (sex drive)

  30. Massachusetts Male Aging Study:Relationship of Prevalence/Degree of ED to Age DEGREE OF ED AGE (yr)

  31. Arterial Dilation Sinusoids fill Venous compression Mechanism of Erection

  32. Evaluation of Erectile Dysfunction History + Physical exam + Lab Appraise pt’s goal, expectation & profile Discuss diagnostic and treatment options Therapeutic trial Further diagnostic testing Definitive treatment

  33. The penis does not obey the order of its master, who tries to erect or shrink it at will. Instead, the penis erects freely while its master is asleep. The penis must be said to have its own mind, by any stretch of the imagination. Leonardo da Vinci

  34. CF and Sexual Dysfunction Remarkably little evidence of female fertility issues. Clearly defined evidence of male infertility. Fertility: Planning is important. www.TheTurekClinic.com www.TurekonMensHealth.com

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