Sperm Retrieval in Adolescents and Young Men with Klinefelter Syndrome: A Prospective Study

Presentation Number: THR-133
Date of Presentation: March 5th, 2015

Leena Nahata*1, Laurie E. Cohen2, Ilina Rosoklija2 and Richard N. Yu2
1Nationwide Children's Hospital, Columbus, OH, 2Boston Children's Hospital, Boston, MA


Objective:  Klinefelter syndrome occurs in 1 in 600 males and >95% experience infertility.  Methods such as micro-dissection sperm extraction (micro-TESE) can be used for sperm retrieval, but these methods are only successful in 40-50% of adults with Klinefelter syndrome. Younger men appear to have higher retrieval rates, suggesting that adolescence may be the optimal time for extraction, but this has not been confirmed by prospective studies.  The primary objective of this clinical trial was to assess sperm retrieval rates in a younger cohort of patients with Klinefelter syndrome, with the ultimate goal of increasing potential for fertility in this patient population.

Design: Patients 12-25 years of age with Klinefelter syndrome (karyotype 47, XXY) who were not on testosterone therapy were recruited for an IRB-approved clinical trial at Boston Children’s Hospital (www.ClinicalTrials.gov NCT01817296).  After undergoing physical examination, biochemical evaluation, and scrotal ultrasonography, patients were encouraged to produce an ejaculate for semen analysis.  Micro-TESE was offered to pubertal patients (LH>0.7 IU/L) who were unable to produce an ejaculate, as well as those who did not have sperm in their ejaculates.  

Results: Fifteen subjects were enrolled in the study, ranging from 15-23 years of age (median 17 years).  Fourteen of these individuals produced an ejaculate; semen analysis showed no sperm in any of these samples.  Ten patients opted to undergo micro-TESE.  Preliminary analysis of the biopsies showed sperm in 40% of these subjects (ages 16, 16, 19, 23).  All six remaining samples, in which no sperm were found on preliminary analysis, are currently being sent to a fertility lab for more detailed analysis via microscopy.          

Conclusions: Based on the preliminary data analysis, sperm retrieval rates via micro-TESE in this younger cohort of patients with Klinefelter syndrome are comparable to what has been reported in older men.


Nothing to Disclose: LN, LEC, IR, RNY