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Fertil Steril. 2014 Apr;101(4):950-5. doi: 10.1016/j.fertnstert.2013.12.051. Epub 2014 Feb 4.

Phenotypic differences in mosaic Klinefelter patients as compared with non-mosaic Klinefelter patients.

Author information

  • 1Division of Urology, Department of Surgery, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.
  • 2Division of Urology, Department of Surgery, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada; Faculty of Medicine, Institute of Medical Science, University of Toronto, Toronto, Ontario, Canada.
  • 3Division of Endocrinology and Metabolism, Department of Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.
  • 4Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.
  • 5Division of Urology, Department of Surgery, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada; Faculty of Medicine, Institute of Medical Science, University of Toronto, Toronto, Ontario, Canada; Lunenfeld Tannenbaum Research Institute, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada. Electronic address: kjarvi@mtsinai.on.ca.

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.

Copyright © 2014 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

KEYWORDS:

Hypogonadism; Klinefelter(s) syndrome; XXY; male infertility; spermatogenesis

PMID:
24502895
[PubMed - indexed for MEDLINE]
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