Phenotypic differences in mosaic Klinefelters patients as compared with nonmosaic Klinefelters patients

Capsule:
Men with mosaic Klinefelter syndrome (KS) seem to be more well androgenized than their non-mosaic KS counterparts, both with respect to hormones and sperm in the ejaculate.

Authors:
Mary K. Samplaski, M.D., Kirk C. Lo, M.D., Ethan D. Grober, M.D., Adam Millar, M.D., Apostolos Dimitromanolakis,  M.Sc., Keith Jarvi, M.D.

Volume 101, Issue 4, Pages 950-955

Abstract:

Objective:
To determine whether men with Klinefelter syndrome (KS) have the same phenotype as men with mosaic KS.

Design:
Subject identification via prospectively collected database.

Setting:
Male infertility specialty clinic.

Patient(s):
Men undergoing a fertility evaluation from 2005 to 2012 at a single male infertility specialty clinic and having a karyotype demonstrating KS (mosaic or non-mosaic).

Intervention(s):
None.

Main Outcome Measure(s):
Testicular size, and semen and hormone parameters, genetic evaluation, and signs of testosterone (T) deficiency using validated questionnaires.

Result(s):
Of 86 men identified with KS, 6 (6.7%) were mosaic KS, and 80 (93.3%) were non-mosaic KS. Men with mosaic KS had lower baseline luteinizing hormone (LH) levels (10.31 IU/L ± 5.52 vs. 19.89 IU/L ± 6.93), lower estradiol levels (58.71 ± 31.10 pmol/L vs. 108.57 ± 43.45 pmol/L), larger mean testicular volumes (11 ± 7.3 mL vs. 6.35 ± 3.69 mL), and a higher mean total sperm count (4.43 ± 9.86 M/mL vs. 0.18 ± 1.17 M/mL). A higher proportion of men with mosaic KS had sperm in the ejaculate: 3 (50%) of 6 versus 3 (3.75%) of 80. The Sexual Health Inventory for Men (SHIM) and Androgen Deficiency in the Aging Male (ADAM) questionnaire scores were not different between groups.

Conclusion(s):
Men with mosaic KS seem to be more well androgenized than their non-mosaic KS counterparts, both with respect to hormones and sperm in the ejaculate.

  • Good review of KS from the Toronto group. Mosaic KS men are oftentimes distinguishable from normal 46XY men. Although mosaic KS men are not as negatively affected by the condition compared to their non-mosaic KS counterparts, they still suffer from fertility problems as evidenced in this study. With less severe effects on hormonal and semen parameters, paternity can still be achieved either spontaneously, or with less costly ART methods rather than proceeding to TESE/MicroTESE/IVF/ICSI.

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