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

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Presentation on theme: "The Birds and the Bees: CF and Sexuality Paul J. Turek, M.D. Director, The Turek Clinic Emeritus Professor, UCSF."— Presentation transcript:

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 Sleepness nights Schoolyard sniffles The biggest threats to Mom’s life:

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

9 Normal Male Anatomy

10 Physical Examination “Natural Vasectomy”


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

13 Infertility M.D. Provider (Male or Female) Genetic Counseling PROGENI  Medical Evaluation 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 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 Congenital Absence of the Vas Deferens (CAVD)

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


19 Techniques for Obstructive Azoospermia Vasal sperm Epididymal sperm PESA MESA Testis sperm TESA TESE

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

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

22 Microscopic Epididymal Sperm Aspiration (MESA)

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

24 Testicular Sperm Extraction (TESE) Window Biopsy Technique

25 Obstructive Non-obstructive The Problem of Azoospermia Repair ICSI 5% of infertile men

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

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

28 Office FNA Map Sperm Found? YesNo IVF/ICSI "Directed" TESE Donor Sperm Adoption Testis FNA Mapping

29 Fine Needle Aspiration (FNA) Mapping

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

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

32 Mechanism of Erection Arterial Dilation Sinusoids fill Venous compression

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

34 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

35 Remarkably little evidence of female fertility issues. Clearly defined evidence of male infertility. Fertility: Planning is important. CF and Sexual Dysfunction

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