Treatment by testicular sperm extraction and intracytoplasmic sperm injection of 65 azoospermic patients with non‐mosaic Klinefelter syndrome with birth of 17 healthy children

Abstract

SUMMARYThe aim of this work was to present the clinical and embryological outcomes of 65 azoospermic patients with non-mosaic Klinefelter syndrome (KS), treated by testicular sperm extraction (TESE), followed by intracytoplasmic sperm injection (ICSI), either with fresh or cryopreserved testicular spermatozoa. In total, spermatozoa were recovered in 25/65 (38.5%) of the cases. Of the 48 patients who choose to perform TESE followed by ICSI using fresh testicular spermatozoa (treatment TESE), spermatozoa was recovered in 19 patients (40%), with birth of 12 newborn. Of the 17 patients who choose to perform TESE followed by testicular sperm cryopreservation, spermatozoa were recovered in six patients (35%), with birth of one child. Of the patients who performed treatment TESE, nine went for a new cycle using cryopreserved spermatozoa. Of these, five patients had a previous failed treatment cycle (two patients, three newborn) and four with a previous success went for a new cycle (one patient, one newborn). Overall, the embryological and clinical rates were as follows: 52% of fertilization, 41% of blastocyst, 27% of implantation, 39% of live birth delivery and 47% of newborn. Of the 16 clinical pregnancies, 14 had a successful delivery (12 girls and 5 boys). The 17 newborns had a mean gestation time of 37.2 weeks (35.3% pre-term) and a mean newborn weight of 2781.3 g (37.5% low weight). Comparisons between cycles with fresh and frozen-thaw spermatozoa revealed higher fertilization and clinical pregnancy rates with fresh spermatozoa, with no differences regarding implantation or newborn rates. Of the 17 newborns, no abnormal karyotypes (n = 3) or numerical abnormalities in chromosomes 13, 18, 21, X and Y (n = 14) as evaluated by Multiplex Ligation-dependent Probe Amplification were observed. In conclusion, this study presents further data that reassures that men with KS have no increased risk of transmitting their genetic problem to the offspring.

Testis Transcriptome Modulation in Klinefelter Patients with Hypospermatogenesis

“…Nowadays, the fertility therapy available for azoospermic KS men is based on TESE (Testicular Sperm Extraction after Biopsy) and assisted reproduction12. The molecular networks involved in KS spermatogenic and testicular failure could represent the basis for the identification of new therapy targets and the set-up of early treatments preserving residual fertility.…”

Identification of the origin of marker chromosomes by two-color fluorescence in situ hybridization and polymerase chain reaction in azoospermic patients

“…ICSI provides the only sufficient treatment to overcome severe forms of male infertility using the primary spermatocyte, round spermatid, elongating spermatid, elongated spermatid, or spermatozoa stages (Hourvitz et al, 1998;Kahraman et al, 1999;Balaban et al, 2001;Madureira et al, 2014). However, male infertility is linked to several genetic problems such as an increased number of chromosomal aberrations, cystic fibrosis transmembrane conductance regulator gene mutations, Y chromosome microdeletions, and androgen receptor mutations.…”

“…The fluorescence in situ hybridization (FISH) technique is a very important tool for cancer cytogenetic studies, genetic gene mapping, and chromosome disease diagnosis at the DNA level (Fu et al, 1996;Yung, 1996). Since intracytoplasmic sperm injection (ICSI) was first reported in 1992 (Palermo et al, 1992), numerous cases of the highly successful use of ICSI have been reported (Balaban et al, 2001;Ludwig et al, 2001;Madureira et al, 2014). ICSI has become the treatment of choice for male factor infertility.…”

Testicular sperm aspiration in men with presumed non-obstructive azoospermia: Analysis of FSH level as a predictor of successful sperm retrieval

“…A review of the literature shows the micro-TESE SRR to be between 38-63% in NOA patients [6][7][8][9] . Given the SRR results from this study particularly in men with normal range FSH ≤ 10IU/L, we found that TESA in our experience had similar results compared to micro-TESE.…”