Klinefelter syndrome and TESE-ICSI.
Until few years ago, Klinefelter syndrome with a homogenous 47,XXY karyotype was considered a model of absolute male sterility. We will discuss first the potential fertility following Testicular Sperm Injection, then the physiopathology of spermatogenic failure and the origin of focal spermatogenesis and risk of aneuploidy in offspring, and third the advantage of searching spermatozoa earlier instead of adult age. The rate of positive sperm extraction seems to be better for younger patients. During childhood, there is a low rate of spermatogonia. The spermagonia, which completes the spermatogenesis, seems resulting from a rare clone of 46,XY gonia, having lost their extra X chromosome. Several arguments suggest that this focal spermatogenesis decreases with age. In addition, androgen treatment, frequently prescribed in case of Klinefelter syndrome, carries a risk of decreasing focal spermatogenesis by lowering gonadotropins. The question arises if it is necessary to expect the sperm cryopreservation before introducing androgen treatment. Further studies are necessary to determine the best age of sperm retrieval in case of Klinefelter syndrome.
Service de médecine de la reproduction, hôpital Femme-Mère-Enfant, France; Laboratoire d'endocrinologie moléculaire et maladies rares, centre de biologie et de pathologie Est, hospices civils de Lyon, groupement hospitalier Est, 59, boulevard Pinel, 69677 Bron cedex, France; Université Claude-Bernard - Lyon 1, 8, avenue Rockfeller, 69008 Lyon, France; Inserm U 846, 18, rue du Doyen-Lepine, 69500 Bron, France. Electronic address: Ingrid.plotton@chu-lyon.fr.
Ingrid
I
Plotton
Service de médecine de la reproduction, hôpital Femme-Mère-Enfant, France.
Aurélie
A
Brosse
Service d'urologie et de transplantation, hôpital Édouard-Herriot, CHU de Lyon, 5, place d'Arsonval, 69437 Lyon cedex 03, France.
Beatrice
B
Cuzin
Service de médecine de la reproduction, hôpital Femme-Mère-Enfant, France; Université Claude-Bernard - Lyon 1, 8, avenue Rockfeller, 69008 Lyon, France; Inserm U 846, 18, rue du Doyen-Lepine, 69500 Bron, France.
Hervé
H
Lejeune
D000293:Adolescent; D000328:Adult; D000728:Androgens / Q000009:adverse effects / Q000494:pharmacology / Q000627:therapeutic use; D015925:Cryopreservation; D005260:Female; D006065:Gonadotropins, Pituitary / Q000037:antagonists & inhibitors / Q000502:physiology; D020249:Hormone Replacement Therapy; D006801:Humans; D007248:Infertility, Male / Q000150:complications / Q000628:therapy*; D007713:Klinefelter Syndrome / Q000150:complications* / Q000473:pathology / Q000503:physiopathology; D008297:Male; D011247:Pregnancy; D018873:Pregnancy Rate; D012306:Risk; D012662:Semen Preservation; D020554:Sperm Injections, Intracytoplasmic / Q000379:methods*; D053625:Sperm Retrieval; D013091:Spermatogenesis / Q000187:drug effects / Q000502:physiology; D013093:Spermatogonia / Q000473:pathology
D000728:Androgens; D006065:Gonadotropins, Pituitary
Fertility; Fertilité; Klinefelter syndrome; Spermatogenesis; Spermatogenèse; Syndrome de Klinefelter