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

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

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

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

Sexuality and CF: Motherhood

•Sleepness nights•Schoolyard sniffles

The biggest threats to Mom’s life:

I read in one of the papers that couples can get pregnant with sex. Is that true?

A patient, 1998

Sexuality and CF: Men

•Fertility•Erections

History

Basic Male Evaluation

Physical

Medical

Therapy

Surgery

Sperm Processing

ART

Semen Analysis

Hormones

Genetic Tests

Other Tests

Normal Male Anatomy

Physical Examination

“Natural Vasectomy”

CBAVD

Test Answers

CF and male fertility is an easier problem!

Infertility M.D. Provider (Male or Female)

Genetic Counseling

PROGENI

Medical Evaluation

Y microdeletions Karyotype CFTR/5TCFTR/5T

Post-Test Counseling

Treatment Plan

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

Mullerian and Wolffian DuctRelationships

•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)

Nonobstructive Azoospermia

(36%)Oligospermia

(49%)

CAVD Idiop.Obstruction

(12%)

Other (3%)Other (3%)

PROGENI The First 500 Patients

Techniques for Obstructive AzoospermiaVasal spermEpididymal sperm

PESAMESA

Testis spermTESATESE

Vasal (MVSA; PVSA)

Epididymal (MESA, PESA)

Testicular (TESA, TESE, MicrodissectionTESE)

Obstructive Azoospermia

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

Microscopic Epididymal Sperm Microscopic Epididymal Sperm Aspiration (MESA)Aspiration (MESA)

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

Testicular Sperm Extraction (TESE)

Window Biopsy Technique

HistoryHistoryPhysical ExamPhysical ExamHormonesHormonesSemenAnalysisSemenAnalysis

Obstructive

Non-obstructive

The Problem of Azoospermia

RepairICSI

ICSI

5% of infertile men

Testicular (TESA, TESE, MicrodissectionTESE)

Nonobstructive Azoospermia

Surgeon beware!!

Bx-FNABx-FNA DiscrepancyDiscrepancy

27% FNA 27% FNA ++

Bx Bx --

IntratestisIntratestis VariabilityVariability

-- ++

25% of testes25% of testes

IntertestisIntertestisVariabilityVariability

-- ++

19% of testes19% of testes

How “Patchy” or “Focal” is Sperm Production?

Office FNA MapOffice FNA Map

Sperm Found?Sperm Found?

YesYes NoNo

IVF/ICSIIVF/ICSI"Directed" TESE"Directed" TESE

Donor SpermDonor SpermAdoptionAdoption

Testis FNA Mapping

Fine Needle Aspiration (FNA) Mapping

Other Sexual Dysfunction:Other Sexual Dysfunction:

Erectile dysfunction

Premature ejaculation

Retrograde ejaculation

Low libido (sex drive)

Massachusetts Male Aging Study:Relationship of Prevalence/Degree of ED to Age

DEGREE OF ED

AGE (yr)

0 0.5 1

70

65

60

55

50

45

40

PROBABILITY

Mechanism of ErectionMechanism of Erection

Arterial Dilation Sinusoids fill Venous compression

History + Physical exam + LabHistory + Physical exam + Lab

Appraise pt’s goal, expectation & profileAppraise pt’s goal, expectation & profileDiscuss diagnostic and treatment optionsDiscuss diagnostic and treatment options

Therapeutic trial Further diagnostic testing

Definitive treatment

Evaluation of Erectile Dysfunction

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

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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