[1]
JACOBS PA, STRONG JA. A case of human intersexuality having a possible XXY sex-determining mechanism. Nature. 1959 Jan 31:183(4657):302-3
[PubMed PMID: 13632697]
Level 3 (low-level) evidence
[2]
Daly RF. Mental illness and patterns of behavior in 10 XXY males. The Journal of nervous and mental disease. 1969 Oct:149(4):318-27
[PubMed PMID: 5383603]
[3]
Davis S, Howell S, Wilson R, Tanda T, Ross J, Zeitler P, Tartaglia N. Advances in the Interdisciplinary Care of Children with Klinefelter Syndrome. Advances in pediatrics. 2016 Aug:63(1):15-46. doi: 10.1016/j.yapd.2016.04.020. Epub
[PubMed PMID: 27426894]
Level 3 (low-level) evidence
[4]
Ross JL, Kushner H, Kowal K, Bardsley M, Davis S, Reiss AL, Tartaglia N, Roeltgen D. Androgen Treatment Effects on Motor Function, Cognition, and Behavior in Boys with Klinefelter Syndrome. The Journal of pediatrics. 2017 Jun:185():193-199.e4. doi: 10.1016/j.jpeds.2017.02.036. Epub 2017 Mar 10
[PubMed PMID: 28285751]
[5]
Bonomi M, Rochira V, Pasquali D, Balercia G, Jannini EA, Ferlin A, Klinefelter ItaliaN Group (KING). Klinefelter syndrome (KS): genetics, clinical phenotype and hypogonadism. Journal of endocrinological investigation. 2017 Feb:40(2):123-134. doi: 10.1007/s40618-016-0541-6. Epub 2016 Sep 19
[PubMed PMID: 27644703]
[6]
Corona G, Pizzocaro A, Lanfranco F, Garolla A, Pelliccione F, Vignozzi L, Ferlin A, Foresta C, Jannini EA, Maggi M, Lenzi A, Pasquali D, Francavilla S, Klinefelter ItaliaN Group (KING). Sperm recovery and ICSI outcomes in Klinefelter syndrome: a systematic review and meta-analysis. Human reproduction update. 2017 May 1:23(3):265-275. doi: 10.1093/humupd/dmx008. Epub
[PubMed PMID: 28379559]
Level 1 (high-level) evidence
[7]
Chehrazi M, Rahimiforoushani A, Sabbaghian M, Nourijelyani K, Sadighi Gilani MA, Hoseini M, Vesali S, Yaseri M, Alizadeh A, Mohammad K, Samani RO. Sperm Retrieval in Patients with Klinefelter Syndrome: A Skewed Regression Model Analysis. International journal of fertility & sterility. 2017 Jul-Sep:11(2):117-122. doi: 10.22074/ijfs.2017.4702. Epub 2017 Feb 16
[PubMed PMID: 28670430]
[8]
Samango-Sprouse C, Lasutschinkow P, Powell S, Sadeghin T, Gropman A. The incidence of anxiety symptoms in boys with 47,XXY (Klinefelter syndrome) and the possible impact of timing of diagnosis and hormonal replacement therapy. American journal of medical genetics. Part A. 2019 Mar:179(3):423-428. doi: 10.1002/ajmg.a.61038. Epub 2019 Jan 13
[PubMed PMID: 30637954]
[9]
Samango-Sprouse C, Stapleton EJ, Lawson P, Mitchell F, Sadeghin T, Powell S, Gropman AL. Positive effects of early androgen therapy on the behavioral phenotype of boys with 47,XXY. American journal of medical genetics. Part C, Seminars in medical genetics. 2015 Jun:169(2):150-7. doi: 10.1002/ajmg.c.31437. Epub 2015 May 1
[PubMed PMID: 25939399]
[10]
Bhasin S, Brito JP, Cunningham GR, Hayes FJ, Hodis HN, Matsumoto AM, Snyder PJ, Swerdloff RS, Wu FC, Yialamas MA. Testosterone Therapy in Men With Hypogonadism: An Endocrine Society Clinical Practice Guideline. The Journal of clinical endocrinology and metabolism. 2018 May 1:103(5):1715-1744. doi: 10.1210/jc.2018-00229. Epub
[PubMed PMID: 29562364]
Level 1 (high-level) evidence
[11]
Hasle H, Mellemgaard A, Nielsen J, Hansen J. Cancer incidence in men with Klinefelter syndrome. British journal of cancer. 1995 Feb:71(2):416-20
[PubMed PMID: 7841064]
[12]
Thyen U, Ittermann T, Flessa S, Muehlan H, Birnbaum W, Rapp M, Marshall L, Szarras-Capnik M, Bouvattier C, Kreukels BPC, Nordenstroem A, Roehle R, Koehler B, dsd-LIFE group. Quality of health care in adolescents and adults with disorders/differences of sex development (DSD) in six European countries (dsd-LIFE). BMC health services research. 2018 Jul 5:18(1):527. doi: 10.1186/s12913-018-3342-0. Epub 2018 Jul 5
[PubMed PMID: 29976186]
Level 2 (mid-level) evidence
[13]
Christiansen P, Andersson AM, Skakkebaek NE. Longitudinal studies of inhibin B levels in boys and young adults with Klinefelter syndrome. The Journal of clinical endocrinology and metabolism. 2003 Feb:88(2):888-91
[PubMed PMID: 12574229]
[14]
Anawalt BD, Bebb RA, Matsumoto AM, Groome NP, Illingworth PJ, McNeilly AS, Bremner WJ. Serum inhibin B levels reflect Sertoli cell function in normal men and men with testicular dysfunction. The Journal of clinical endocrinology and metabolism. 1996 Sep:81(9):3341-5
[PubMed PMID: 8784094]
[15]
Aksglaede L, Christiansen P, Sørensen K, Boas M, Linneberg A, Main KM, Andersson AM, Skakkebaek NE, Juul A. Serum concentrations of Anti-Müllerian Hormone (AMH) in 95 patients with Klinefelter syndrome with or without cryptorchidism. Acta paediatrica (Oslo, Norway : 1992). 2011 Jun:100(6):839-45. doi: 10.1111/j.1651-2227.2011.02148.x. Epub 2011 Feb 25
[PubMed PMID: 21251056]
[16]
Kolon TF, Herndon CD, Baker LA, Baskin LS, Baxter CG, Cheng EY, Diaz M, Lee PA, Seashore CJ, Tasian GE, Barthold JS, American Urological Assocation. Evaluation and treatment of cryptorchidism: AUA guideline. The Journal of urology. 2014 Aug:192(2):337-45. doi: 10.1016/j.juro.2014.05.005. Epub 2014 May 20
[PubMed PMID: 24857650]
[17]
Mulhall JP, Trost LW, Brannigan RE, Kurtz EG, Redmon JB, Chiles KA, Lightner DJ, Miner MM, Murad MH, Nelson CJ, Platz EA, Ramanathan LV, Lewis RW. Evaluation and Management of Testosterone Deficiency: AUA Guideline. The Journal of urology. 2018 Aug:200(2):423-432. doi: 10.1016/j.juro.2018.03.115. Epub 2018 Mar 28
[PubMed PMID: 29601923]