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Anders Juul - One of the best experts on this subject based on the ideXlab platform.

  • low semen volume in 47 adolescents and adults with 47 XXy klinefelter or 46 XX Male Syndrome
    International Journal of Andrology, 2009
    Co-Authors: Lise Aksglaede, Niels Jørgensen, Niels E. Skakkebæk, Anders Juul
    Abstract:

    Summary Klinefelter Syndrome is characterized by progressive testicular failure causing androgen deficiency and azoospermia in most patients. The aim of this study was to evaluate semen quality in consecutive patients with an additional X chromosome as compared with healthy Males. Forty-seven Males with non-mosaic 47,XXY (n = 40) or SRY-positive 46,XX Male (n = 7) karyotypes aged 26.1 (range: 15.0–51.7) years participated. Semen quality was compared with 2136 (control group I) men from the general population aged 18.9 (17.9–28.6) years and with 349 fertile men (control group II) aged 30.9 (22.0–43.8) years. Semen volume adjusted for duration of abstinence was significantly smaller in the patients [2.0 (0.2–5.7) mL] when compared with control group I [3.1 (0.3–12.5) mL, p < 0.0001] and group II [3.6 (0.6–12.5) mL, p < 0.0001]. There was no difference in semen volume between 47,XXY and 46,XX Males. All patients had azoospermia except two 47,XXY Males aged 29 years who had sperm concentrations of 0.5 and 1.6 million/mL, respectively. We found significantly smaller semen volume in the patients when compared with controls, and the presence of motile spermatozoa in two out of 47 patients. The small semen volume supports the notion of 47,XXY patients being androgen insufficient despite serum testosterone levels within the normal range.

  • Low semen volume in 47 adolescents and adults with 47,XXY Klinefelter or 46,XX Male Syndrome.
    International Journal of Andrology, 2008
    Co-Authors: Lise Aksglaede, Niels Jørgensen, Niels E. Skakkebæk, Anders Juul
    Abstract:

    Summary Klinefelter Syndrome is characterized by progressive testicular failure causing androgen deficiency and azoospermia in most patients. The aim of this study was to evaluate semen quality in consecutive patients with an additional X chromosome as compared with healthy Males. Forty-seven Males with non-mosaic 47,XXY (n = 40) or SRY-positive 46,XX Male (n = 7) karyotypes aged 26.1 (range: 15.0–51.7) years participated. Semen quality was compared with 2136 (control group I) men from the general population aged 18.9 (17.9–28.6) years and with 349 fertile men (control group II) aged 30.9 (22.0–43.8) years. Semen volume adjusted for duration of abstinence was significantly smaller in the patients [2.0 (0.2–5.7) mL] when compared with control group I [3.1 (0.3–12.5) mL, p 

Lise Aksglaede - One of the best experts on this subject based on the ideXlab platform.

  • low semen volume in 47 adolescents and adults with 47 XXy klinefelter or 46 XX Male Syndrome
    International Journal of Andrology, 2009
    Co-Authors: Lise Aksglaede, Niels Jørgensen, Niels E. Skakkebæk, Anders Juul
    Abstract:

    Summary Klinefelter Syndrome is characterized by progressive testicular failure causing androgen deficiency and azoospermia in most patients. The aim of this study was to evaluate semen quality in consecutive patients with an additional X chromosome as compared with healthy Males. Forty-seven Males with non-mosaic 47,XXY (n = 40) or SRY-positive 46,XX Male (n = 7) karyotypes aged 26.1 (range: 15.0–51.7) years participated. Semen quality was compared with 2136 (control group I) men from the general population aged 18.9 (17.9–28.6) years and with 349 fertile men (control group II) aged 30.9 (22.0–43.8) years. Semen volume adjusted for duration of abstinence was significantly smaller in the patients [2.0 (0.2–5.7) mL] when compared with control group I [3.1 (0.3–12.5) mL, p < 0.0001] and group II [3.6 (0.6–12.5) mL, p < 0.0001]. There was no difference in semen volume between 47,XXY and 46,XX Males. All patients had azoospermia except two 47,XXY Males aged 29 years who had sperm concentrations of 0.5 and 1.6 million/mL, respectively. We found significantly smaller semen volume in the patients when compared with controls, and the presence of motile spermatozoa in two out of 47 patients. The small semen volume supports the notion of 47,XXY patients being androgen insufficient despite serum testosterone levels within the normal range.

  • Low semen volume in 47 adolescents and adults with 47,XXY Klinefelter or 46,XX Male Syndrome.
    International Journal of Andrology, 2008
    Co-Authors: Lise Aksglaede, Niels Jørgensen, Niels E. Skakkebæk, Anders Juul
    Abstract:

    Summary Klinefelter Syndrome is characterized by progressive testicular failure causing androgen deficiency and azoospermia in most patients. The aim of this study was to evaluate semen quality in consecutive patients with an additional X chromosome as compared with healthy Males. Forty-seven Males with non-mosaic 47,XXY (n = 40) or SRY-positive 46,XX Male (n = 7) karyotypes aged 26.1 (range: 15.0–51.7) years participated. Semen quality was compared with 2136 (control group I) men from the general population aged 18.9 (17.9–28.6) years and with 349 fertile men (control group II) aged 30.9 (22.0–43.8) years. Semen volume adjusted for duration of abstinence was significantly smaller in the patients [2.0 (0.2–5.7) mL] when compared with control group I [3.1 (0.3–12.5) mL, p 

Patrick H. Mckenna - One of the best experts on this subject based on the ideXlab platform.

  • CLINICAL AND MOLECULAR ANALYSIS OF XX SEX REVERSED PATIENTS
    The Journal of urology, 1998
    Co-Authors: Thomas F. Kolon, Fernando A. Ferrer, Patrick H. Mckenna
    Abstract:

    AbstractPurpose: The XX Male Syndrome presents with a spectrum of clinical appearances from phenotypic Male individuals to true hermaphrodites. Previous reports established the sex determining region of the Y chromosome (SRY) gene as the testis determining factor. However, a subset of XX sex reversed Male individuals exists without a translocation of SRY deoxyribonucleic acid (DNA) material to the X chromosome. In addition to clinical or endocrinological criteria, Y DNA probe studies, and radiological and surgical evaluation as indicated are necessary for an accurate diagnosis.Materials and Methods: We evaluated 5 XX sex reversed patients (2 true hermaphrodites and 3 Male individuals) by physical examination, pedigree analysis, endocrinological testing, molecular analysis of Y DNA, radiological studies and surgery (exploration and/or biopsy).Results: All patients were SRY gene negative. Two patients were siblings. Complete endocrinological testing was negative in all cases. Two patients had a normal Male ...

Frank Tüttelmann - One of the best experts on this subject based on the ideXlab platform.

  • MECHANISMS IN ENDOCRINOLOGY: Aberrations of the X chromosome as cause of Male infertility.
    European journal of endocrinology, 2017
    Co-Authors: Albrecht Röpke, Frank Tüttelmann
    Abstract:

    Male infertility is most commonly caused by spermatogenetic failure, clinically noted as oligo- or a-zoospermia. Today, in approximately 20% of azoospermic patients, a causal genetic defect can be identified. The most frequent genetic causes of azoospermia (or severe oligozoospermia) are Klinefelter Syndrome (47,XXY), structural chromosomal abnormalities and Y-chromosomal microdeletions. Consistent with Ohno's law, the human X chromosome is the most stable of all the chromosomes, but contrary to Ohno's law, the X chromosome is loaded with regions of acquired, rapidly evolving genes, which are of special interest because they are predominantly expressed in the testis. Therefore, it is not surprising that the X chromosome, considered as the feMale counterpart of the Male-associated Y chromosome, may actually play an essential role in Male infertility and sperm production. This is supported by the recent description of a significantly increased copy number variation (CNV) burden on both sex chromosomes in infertile men and point mutations in X-chromosomal genes responsible for Male infertility. Thus, the X chromosome seems to be frequently affected in infertile Male patients. Four principal X-chromosomal aberrations have been identified so far: (1) aneuploidy of the X chromosome as found in Klinefelter Syndrome (47,XXY or mosaicism for additional X chromosomes). (2) Translocations involving the X chromosome, e.g. nonsyndromic 46,XX testicular disorders of sex development (XX-Male Syndrome) or X-autosome translocations. (3) CNVs affecting the X chromosome. (4) Point mutations disrupting X-chromosomal genes. All these are reviewed herein and assessed concerning their importance for the clinical routine diagnostic workup of the infertile Male as well as their potential to shape research on spermatogenic failure in the next years.

  • Primary Testicular Failure
    2015
    Co-Authors: Hermann M. Behre, Martin Bergmann, Manuela Simoni, Frank Tüttelmann
    Abstract:

    Primary testicular failure may result in endocrine failure, leading to testosterone deficiency or exocrine failure causing impaired spermatogenesis and subsequently Male infertility. While some aspects of primary testicular failure are described in detail in separate chapters of Endotext.com, this chapter focuses on congenital or acquired anorchia, Leydig cell hypoplasia, and spermatogenic failure including germ cell aplasia (Sertoli cell only Syndrome), spermatogenic arrest, hypospermatogenesis, and mixed atrophy. In addition, genetic causes for primary testicular failure are described such as numerical chromosome aberrations including Klinefelter Syndrome, XX-Male Syndrome, and XYY Syndrome, structural chromosome aberrations of the autosomes or sex chromosomes, and Y chromosome microdeletions. For complete coverage of this and related areas in Endocrinology, please visit our free web-book, www.endotext.org .

Niels E. Skakkebæk - One of the best experts on this subject based on the ideXlab platform.

  • low semen volume in 47 adolescents and adults with 47 XXy klinefelter or 46 XX Male Syndrome
    International Journal of Andrology, 2009
    Co-Authors: Lise Aksglaede, Niels Jørgensen, Niels E. Skakkebæk, Anders Juul
    Abstract:

    Summary Klinefelter Syndrome is characterized by progressive testicular failure causing androgen deficiency and azoospermia in most patients. The aim of this study was to evaluate semen quality in consecutive patients with an additional X chromosome as compared with healthy Males. Forty-seven Males with non-mosaic 47,XXY (n = 40) or SRY-positive 46,XX Male (n = 7) karyotypes aged 26.1 (range: 15.0–51.7) years participated. Semen quality was compared with 2136 (control group I) men from the general population aged 18.9 (17.9–28.6) years and with 349 fertile men (control group II) aged 30.9 (22.0–43.8) years. Semen volume adjusted for duration of abstinence was significantly smaller in the patients [2.0 (0.2–5.7) mL] when compared with control group I [3.1 (0.3–12.5) mL, p < 0.0001] and group II [3.6 (0.6–12.5) mL, p < 0.0001]. There was no difference in semen volume between 47,XXY and 46,XX Males. All patients had azoospermia except two 47,XXY Males aged 29 years who had sperm concentrations of 0.5 and 1.6 million/mL, respectively. We found significantly smaller semen volume in the patients when compared with controls, and the presence of motile spermatozoa in two out of 47 patients. The small semen volume supports the notion of 47,XXY patients being androgen insufficient despite serum testosterone levels within the normal range.

  • Low semen volume in 47 adolescents and adults with 47,XXY Klinefelter or 46,XX Male Syndrome.
    International Journal of Andrology, 2008
    Co-Authors: Lise Aksglaede, Niels Jørgensen, Niels E. Skakkebæk, Anders Juul
    Abstract:

    Summary Klinefelter Syndrome is characterized by progressive testicular failure causing androgen deficiency and azoospermia in most patients. The aim of this study was to evaluate semen quality in consecutive patients with an additional X chromosome as compared with healthy Males. Forty-seven Males with non-mosaic 47,XXY (n = 40) or SRY-positive 46,XX Male (n = 7) karyotypes aged 26.1 (range: 15.0–51.7) years participated. Semen quality was compared with 2136 (control group I) men from the general population aged 18.9 (17.9–28.6) years and with 349 fertile men (control group II) aged 30.9 (22.0–43.8) years. Semen volume adjusted for duration of abstinence was significantly smaller in the patients [2.0 (0.2–5.7) mL] when compared with control group I [3.1 (0.3–12.5) mL, p