Fertility Preservation in Cases of Klinefelter Syndrome. (FERTIPRESERVE)

Fertility Preservation in Cases of Spermatogenesis Failure : Prospective Study for Klinefelter Syndrome With Non-mosaic Karyotype (47, XXY, Homogeneous)

Klinefelter Syndrome (KS) is the most common sex chromosomal abnormalities (1/600 newborn males), and is characterized by a hypergonadism hypogonadism. Until few years ago, mostly non-mosaic KS was considered as a model of a complete male infertility although few KS (4-8%) have an oligospermia. Recent studies in adult with non-mosaic KS reported the possibility of sperm retrieval by testicular biopsy (TESE) in around 50% cases and more than some pregnancies have been obtained after TESE with Intracytoplasmic Sperm Injection (ICSI). Since 1997, more than one hundred births are described. As some studies shown a decrease of successful sperm retrieval with the increasing of age, we plan to compare the potential of sperm retrieval between two groups "adult" (23-55 years) and "young" after the onset of puberty (15-22 years). The study will be performed by searching spermatozoa on two seminal analyses spaced out 3 months followed by a testicular biopsy if the azoospermia is confirmed on semen analyses.

Two seminal analyses spaced out 3 months followed by a testicular biopsy if the azoospermia is confirmed on semen analyses.

Improvement of sperm retrieval rate by Testicular Sperm extraction (TESE) in the "Young" group compare to "Adult" group.

Influence of antecedent of androgenotherapy before Testicular Sperm extraction (TESE) : treatment or not, duration of treatment

Identification of prognosis factors of sperm retrieval (by TESE) in the two groups "Young" and "Adult"

Histopathologist analyses of testicular biopsy in the two groups "Young" and "Adult". In the 2 groups, comparison of cases with and without sperm.

Inclusion Criteria: Klinefelter Syndrome with 47,XXY non-mosaic Androgenotherapy stopped since more than 6 months Exclusion Criteria: Antecedent of Radiotherapy or chemotherapy Psychological trouble Treatment interfering with spermatogenesis Androgenotherapy non stopped

Service d'Endocrinologie Moléculaire et Maladies Rares, Centre de Biologie Est, Hospices Civils de Lyon

Renault L, Labrune E, Giscard d'Estaing S, Cuzin B, Lapoirie M, Benchaib M, Lornage J, Soignon G, de Souza A, Dijoud F, Fraison E, Pral-Chatillon L, Bordes A, Sanlaville D, Schluth-Bolard C, Salle B, Ecochard R, Lejeune H, Plotton I. Delaying testicular sperm extraction in 47,XXY Klinefelter patients does not impair the sperm retrieval rate, and AMH levels are higher when TESE is positive. Hum Reprod. 2022 Oct 31;37(11):2518-2531. doi: 10.1093/humrep/deac203.

Plotton I, Giscard d'Estaing S, Cuzin B, Brosse A, Benchaib M, Lornage J, Ecochard R, Dijoud F, Lejeune H; FERTIPRESERVE group. Preliminary results of a prospective study of testicular sperm extraction in young versus adult patients with nonmosaic 47,XXY Klinefelter syndrome. J Clin Endocrinol Metab. 2015 Mar;100(3):961-7. doi: 10.1210/jc.2014-3083. Epub 2014 Nov 25.