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Udredning af infertile mænd

Udredning af infertile mænd. Jens Fedder, U-kursus i Reproduktionsmedicin, Odense, 29.-31. januar 2014. Diagnosekoder - andrologi. DN469 Sterilitas masculina DN469B Azoospermia DN469C Oligo( zoo )spermia DN469D Oligo-tera( to )zoospermia DN469E Sterilitas masculina (tidl. steriliseret)

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Udredning af infertile mænd

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  1. Udredning af infertile mænd Jens Fedder, U-kursus i Reproduktionsmedicin, Odense, 29.-31. januar 2014

  2. Diagnosekoder - andrologi • DN469 Sterilitas masculina • DN469BAzoospermia • DN469COligo(zoo)spermia • DN469D Oligo-tera(to)zoospermia • DN469E Sterilitas masculina (tidl. steriliseret) • DN520A Retrograd ejakulation • DZ316 Behov for almen rådgivn. og vejl. • DQ984 Klinefelters syndrom uden specifikation

  3. Hvorfor kønnet formering?Jørgensen PB et al.: Age dependence of relative telomere length during spermatogenesis in man. Maturitas 2013; 75: 380-5.

  4. What determines sex • Genetics(sex chromosomes, SRY) • Immunology (H-Y antigen) • Hormones (quail, chicken) • Temperature (turtle) • Social factors (berggylt m.fl.) • Insemination intervals (sheep, deer)

  5. Karyotypes

  6. Y chromosome

  7. Swyers syndrome Gonadal dysgenesis (pure, mixed, or partiel) Mutation in the SRY gene Female external genitalia, SMALL UTERUS, Fallopian tubes and dysgenetic or streak gonads Normal gonadotrophin and androgen levels Morris syndrome Androgen Insensitivity Syndrome Androgen receptor defect Female external genitalia (clitoris hypertrophy), blind vagina pouch, and NO UTERUS or Fallopian tubes. High gonadotrophin and low androgen levels 46,XY females

  8. Xiphophorus montezumae

  9. Semen quality & sexuality • Roger Short: Gorillaer, chimpanser, tandhvaler.

  10. Case 1 • Uddeles!

  11. Undersøgelse af sædprøver • Udseende, konsistens • Volumen (Normalt: ____-____ ml) • Koncentration af sædceller (min ____ mio/ml) og rundceller (max ____ mio leukocytter/ml) • Motilitet (≥ ___%motile, gradering, CASA, penetrationstest. NB: temp.!) • Morfologi (”strict criteria”: Caput: 4.0-6.0μm x 2.4-3.5μm, Acrosom: 40-70% af caput, Ingen midpiece- eller haledefekter, Kun små cytoplasma-droplets max ½ caput) (Normalt: min ____% morfologisk normale, ”strict criteria”) • ”Capacitation” (hyperaktivering), acrosom-reaktion og andre sperm-function tests • Anti-spermatozo antistoffer (agglutinationstests) • SCSA (Sperm Chromatin Structure Assay) • Rundceller i sæden (kimceller, leukocytter & epithelceller) • Oprensning af sædprøver?

  12. Sædundersøgelse

  13. Ved ”dårlig” sædprøve – Husk: • Abstinenstid? • Temperaturforhøjelse? (febrilia?, sauna?) • Sexual arousal? • Livsstilsfaktorer?

  14. Rammer for udredningsprogram (azoospermi) • Anamnese: kryptorchisme, infektioner i sædvejene, traumer, andre sygdomme. • Objektiv undersøgelse: konstitution, behåring, evt. scrotal- og/eller rectalscanning. • Endokrinologi: FSH, LH, testosteron. (Levertal, PSA?) • Genetik: karyotype, Y-deletioner, CF-mutationer. • Diagnostisk testisbiopsi (frisk, fixeret, nedfrysning). • Fedder et al., Fertil Steril 82: 1463-5 (2004)

  15. Obstructive azoospermiaFedder et al., Fertil Steril 82:1463-5 (2004) • (Vasectomy) • CFTR carrier (40% of non-vasectomized) • Embryological cause (utricular cyst, malformation) • Epididymitis (Chlamydia trachomatis) • Surgical cause • Trauma (traffic accident, torture, accidential shot) • Unexplained

  16. CF mutationer • Undersøgelsen indiceret ved obstruktiv azoospermi og specielt ved congenit bilateral manglende ductus deferens. • Ved påvisning af CF-mutation hos manden er der indikation for også at undersøge hans kvindelige partner forud for behandling. • Hvis begge parter bærer en CF-mutation, kan parret tilbydes præimplantationsdiagnostik. • Man kender over 800 CF-mutationer. Især ca. 20 har klinisk betydning, og hos indfødte danskere kan man påvise >90% bærere ved at undersøge for ganske få mutationer (spec: ΔF508).

  17. Non-obstructive azoospermiaFedder et al., Fertil Steril 82: 1463-5 (2004) • Klinefelter’s syndrome (XXY)(10%) • Other karyotype aberations (46,XX; translocations) • Y microdeletions (10-15%) • Orchitis, torsio testis, anabolic steroids, Hodgkin lymphoma, chemotherapy, radiotheraphy. • Unexplained

  18. 1/600 boys Only 25% are detected (Bojesen et al., J Clin Endocrinol Metab 88: 622-6 (2003). Increased risk for metabolic syndrome, osteoporosis and cardiovascular disease when untreated. Avoid testosterone substitution before examination/treatment in fertility clinic. Klinefelter’s syndrome (47,XXY)

  19. Y deletioner • Y deletioner kan af og til afsløres ved karyotype-analyse, men Y mikrodeletioner kun ved DNA-undersøgelse. • 3-regioner: AZFa (Azoospermia factor a), AZFb & AZFc. Det er specielt ved deletioner i AZFc at man stadig kan påvise spermatozo-produktion. • Y deletioner videregives til drengebørn.

  20. Frequencies of retrograde ejaculation, aspermia, and azoospermia in diabetic men and controls. Numbers who Numbers with Numbers with Numbers with Total numbers delivered ejaculates azoospermia retrograde ejaculation aspermia Diabetes mellitus 27 26 1 9 2 Controls 18 16 1 0 0 Fedder et al., Andrology 1: 361-364 (2013)

  21. Sexuel tilfredshed hos mænd med retrograd ejakulation (INH-15) • DM & +RE: No=9, mean score 3.8 • DM & -RE: No=18, mean score 4.5 • Controls (-DM): No= 18, mean score 5.1 • Pt. Med RE havde haft DM signifikant længere end DM-pt uden RE (20 y><12 y)!

  22. Open testicular biopsy

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