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.

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