Mary K Samplaski1, Kirk C Lo2, Ethan D Grober1, Adam Millar3, Apostolos Dimitromanolakis4, Keith A Jarvi5. 1. Division of Urology, Department of Surgery, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada. 2. Division 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. 3. Division of Endocrinology and Metabolism, Department of Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada. 4. Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada. 5. Division 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.
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.
Authors: D Liberato; S Granato; D Grimaldi; F M Rossi; N Tahani; D Gianfrilli; A Anzuini; A Lenzi; G Cavaggioni; A F Radicioni Journal: J Endocrinol Invest Date: 2017-04-11 Impact factor: 4.256
Authors: Filipe Tenorio Lira Neto; Phil Vu Bach; Bobby Baback Najari; Philip Shihua Li; Marc Goldstein Journal: Curr Urol Rep Date: 2016-10 Impact factor: 3.092