Testis Development and Fertility Potential in Boys with Klinefelter Syndrome

被引：45
作者：
Davis, Shanlee M. [1 ]
Rogol, Alan D. [2 ]
Ross, Judith L. [3 ,4 ]
机构：
[1] Univ Colorado, Childrens Hosp Colorado, Dept Pediat, Aurora, CO 80045 USA
[2] Univ Virginia, Dept Pediat, Charlottesville, VA 22911 USA
[3] Alfred I DuPont Hosp Children, Dept Pediat Endocrinol, Wilmington, DE 19803 USA
[4] Thomas Jefferson Univ, Dept Pediat, Philadelphia, PA 19107 USA
来源：
ENDOCRINOLOGY AND METABOLISM CLINICS OF NORTH AMERICA | 2015年 / 44卷 / 04期
关键词：
Testis development; Reproductive options; Klinefelter syndrome; Testicular function; Spermatogenesis; X-chromosome; Sex chromosome aneuploidy; TESTICULAR SPERM EXTRACTION; ANTI-MULLERIAN HORMONE; AMNIOTIC-FLUID TESTOSTERONE; INSULIN-LIKE FACTOR-3; 47; XXY KLINEFELTER; METABOLIC SYNDROME; ANDROGEN RECEPTOR; NONOBSTRUCTIVE AZOOSPERMIA; SERUM TESTOSTERONE; BODY-COMPOSITION;
D O I：
10.1016/j.ecl.2015.07.008
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
Klinefelter syndrome (KS) is the leading genetic cause of primary hypogonadism and infertility in men. The clinical phenotype has expanded beyond the original description of infertility, small testes, and gynecomastia. Animal models, epidemiologic studies, and clinical research of male subjects with KS throughout the lifespan have allowed the better characterization of the variable phenotype of this condition. This review provides an overview on what is known of the epidemiology, clinical features, and pathophysiology of KS, followed by a more focused discussion of testicular development and the clinical management of hypogonadism and fertility in boys and men with KS.
引用
收藏
页码：843 / +
页数：25
相关论文
共 152 条
  • [1] PRENATAL SEX DIAGNOSIS - TESTOSTERONE AND FSH-LEVELS IN MID-TRIMESTER AMNIOTIC FLUIDS
    ABELIOVICH, D
    LEIBERMAN, JR
    TEUERSTEIN, I
    LEVY, J
    [J]. PRENATAL DIAGNOSIS, 1984, 4 (05) : 347 - 353
  • [2] Abramsky L, 1997, PRENATAL DIAG, V17, P363, DOI 10.1002/(SICI)1097-0223(199704)17:4<363::AID-PD79>3.0.CO
  • [3] 2-O
  • [4] ADAMOPOULOS DA, 1971, J REPROD FERTIL, V25, P409
  • [5] Normal bone mineral content but unfavourable muscle/fat ratio in Klinefelter syndrome
    Aksglaede, L.
    Molgaard, C.
    Skakkebaek, N. E.
    Juul, A.
    [J]. ARCHIVES OF DISEASE IN CHILDHOOD, 2008, 93 (01) : 30 - 34
  • [6] Changes in Anti-Mullerian Hormone (AMH) throughout the Life Span: A Population-Based Study of 1027 Healthy Males from Birth (Cord Blood) to the Age of 69 Years
    Aksglaede, L.
    Sorensen, K.
    Boas, M.
    Mouritsen, A.
    Hagen, C. P.
    Jensen, R. B.
    Petersen, J. H.
    Linneberg, A.
    Andersson, A. -M.
    Main, K. M.
    Skakkebaek, N. E.
    Juul, A.
    [J]. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2010, 95 (12) : 5357 - 5364
  • [7] Low semen volume in 47 adolescents and adults with 47,XXY Klinefelter or 46,XX male syndrome
    Aksglaede, L.
    Jorgensen, N.
    Skakkebaek, N. E.
    Juul, A.
    [J]. INTERNATIONAL JOURNAL OF ANDROLOGY, 2009, 32 (04): : 376 - 384
  • [8] High normal testosterone levels in infants with non-mosaic Klinefelter's syndrome
    Aksglaede, Lise
    Petersen, Jorgen H.
    Main, Katharina M.
    Skakkebaek, Niels E.
    Juul, Anders
    [J]. EUROPEAN JOURNAL OF ENDOCRINOLOGY, 2007, 157 (03) : 345 - 350
  • [9] Clinical and biological parameters in 166 boys, adolescents and adults with nonmosaic Klinefelter syndrome: a Copenhagen experience
    Aksglaede, Lise
    Skakkebk, Niels E.
    Almstrup, Kristian
    Juul, Anders
    [J]. ACTA PAEDIATRICA, 2011, 100 (06) : 793 - 806
  • [10] Serum concentrations of Anti-Mullerian Hormone (AMH) in 95 patients with Klinefelter syndrome with or without cryptorchidism
    Aksglaede, Lise
    Christiansen, Peter
    Sorensen, Kaspar
    Boas, Malene
    Linneberg, Allan
    Main, Katharina M.
    Andersson, Anna-Maria
    Skakkebaek, Niels E.
    Juul, Anders
    [J]. ACTA PAEDIATRICA, 2011, 100 (06) : 839 - 845
12345678910