Context: Klinefelter Syndrome (KS) patients, defined by a 47 XXY karyotype, were long considered infertile. Testicular sperm extraction (TESE) now allows some of these patients to access fatherhood. The predictive factors for success, however, remain unknown.
Patients and methods: Non-mosaic KS patients with azoospermia or severe cryptozoospermia on two semen analyses without any other spermatogenesis disorder were included. They were sorted into two age groups: youths, between 15 and 22 years of age, and adults over 23. They had two clinical examinations and blood tests before conventional TESE and one after.
Results: One hundred sixty two KS patients were included between April 2010 and May 2018: 63 youths and 57 adults. Thirty-six gave up before biopsy, 72% of whom were youths. Median age at biopsy was 22 years: 18 years for youths and 31 years for adults. Sperm straws were frozen for 50 patients (41.6%): 26 youths (41.3%) and 24 adults (42.1%). Half of the adults who cryopreserved sperm did at least 1 intra-cytoplasmic sperm injection, leading to 6 pregnancies and 7 live births. Clinical features (BMI, age at diagnosis, testosterone treatment, Tanner stage, and testis volume) were similar between patients with and without successful sperm retrieval. FSH, LH, total and bioavailable testosterone, estradiol and inhibin B levels were not predictive of success. Interestingly, median AMH was significantly higher in patients with successful TESE, at 13 pmol/L [4-31] versus 3 pmol/L [0.915.3]; P=0.0049.
Conclusion: Clinical and biological features of a very large cohort of 120 KS patients are described. We show for the first time AMH to be a predictive factor of success for sperm retrieval in non-mosaic KS patients.
18 - 21 May 2019
European Society of Endocrinology