Skip to main content
SpringerLink
Log in

Störungen im Bereich der Testes

  • Chapter
Andrologie

Zusammenfassung

Eine angeborene doppelseitige Anorchie kommt nur bei einem von 20.000 Männern vor. Die einseitige Anorchie ist etwa viermal so häufig. Vor allem vaskuläre und genetische Störungen, intrauterine Infektionen, Traumata oder teratogene Noxen werden als Ursachen für den Verlust eines oder beider Hoden diskutiert. Eine vermutete Abnormalität in der geschlechtsbestimmenden Region des Y-Chromosoms, dem SRY-Gen, konnte bisher nicht bestätigt werden (Lobacarro et al. 1993). Auch Mutationen in anderen Genen, die für die Entwicklung und den Deszensus der Testes mit verantwortlich sind, konnten bisher nicht eindeutig identifiziert werden (Vinci et al. 2004; Philibert et al. 2007). Gegenwärtig werden intrauterine Hodentorsion und genetische Faktoren als mögliche Ursachen favorisiert.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 219.00
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

Literatur

  • Ahlfeld F (1880) Die Missbildungen des Menschen. Grunow, Leipzig

    Google Scholar 

  • Aittomäki K, Lucena JLD, Pakaranin P, Sistonen P, Tapanainen J, Gromoll J, Kashikari R, Sankila E-M, Lehväslaiho H, Engel AR, Nieschlag E, Huhtaniemi I, de la Chapelle A (1995) Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure. Cell 82:959–959

    PubMed  Google Scholar 

  • Aksglaede L, Wikström AM, Rajpert-De Meyts E, Dunkel L, Skakkebaek NE, Juul A (2006) Natural history of seminiferous tubule degeneration in Klinefelter syndrome. Hum Reprod Update 12:39–48

    PubMed  Google Scholar 

  • Al-Said S, Al-Naimi A, Al-Ansari A, Younis N, Shamsodini A, A-Sadiq K, Shokeir AA (2008) Varicocelectomy for male infertility: a comparative study of open, laparoscopic and microsurgical approaches. J Urol 180:266–270

    PubMed  Google Scholar 

  • Arap MA, Vicentini FC, Cocuzza M, Hallak J, Athayde K, Lucon AM, Arap S, Srougi M (2007) Late hormonal levels, semen parameters and presence of antisperm antibodies in patients treated for testicular torsion. J Androl 28:528–532

    CAS  PubMed  Google Scholar 

  • AWMF-Leitlinie (2009) Hodenhochstand Nr. 006/022

    Google Scholar 

  • Bastida MG, Rey RA, Bergadá I, Bedecarrás P, Andreone L, del Rey G, Boywitt A, Ropelato MG, Cassinelli H, Arcari A, Campo S, Gottlieb S (2007) Establishment of testicular endocrine function impairment during childhood and puberty in boys with Klinefelter syndrome. Clin Endocrinol 67:863–870

    CAS  Google Scholar 

  • Bates SE (1991) Clinical applications of serum tumor markers. Ann Intern Med 115:623–638

    CAS  PubMed  Google Scholar 

  • Bergère M, Wainer R, Nataf V, Bailly M, Gombault M, Ville Y, Selva J (2002) Biopsied testis cells of four 47, XXY patients: flourescence in-situ hybridization and ICSI results. Hum Reprod 17:32–37

    PubMed  Google Scholar 

  • Bergholz R, Koch B, Spieker T, Lohse K (2007) Polyorchidism: a cse report and classification. J Pediatric Surgery 42:1933–1935

    Google Scholar 

  • Bergmann M, Schleicher G, Böcker R, Nieschlag E (1989) True hermaphroditism with bilateral ovotestis: a case report. J Androl 12:139–147

    CAS  Google Scholar 

  • Bergmann M, Behre HM, Nieschlag E (1994) Serum FSH and testicular morphology in male infer tility. Clin Endocrinol 40:133–136

    CAS  Google Scholar 

  • Berthelsen JG, Skakkebaek NE (1983) Gonadal function in men with testis cancer. Fertil Steril 39:68–75

    CAS  PubMed  Google Scholar 

  • Bojesen A, Juul S, Gravholt CH (2003) Prenatal and postnatal prevalence of Klinefelter syndrome: a national registry study. J Clin Endocrinol Metab 88:622–626

    CAS  PubMed  Google Scholar 

  • Bojesen A, Juul S, Birkebaek NH, Gravholt CH (2006a) Morbidity in Klinefelter syndrome: a Danish register study based on hospital discharge diagnoses. J Clin Endocrinol Metab 91:1254–1260

    CAS  PubMed  Google Scholar 

  • Bojesen A, Kristensen K, Birkebaek NH, Fedder J, Mosekilde L, Bennett P, Laurberg P, Frystyk J, Flyvbjerg A, Christiansen JS, Gravholt CH (2006b) The metabolic syndrome is frequent in Klinefelter’s syndrome and is associated with abdominal obesity and hypogonadism. Diab Care 29:1591–1598

    Google Scholar 

  • Bosl GJ, Motzer RJ (1997) Testicular germ-cell cancer. N Engl J Med 337:242–253

    CAS  PubMed  Google Scholar 

  • Bouayed Abdelmoula N, Portnoi MF, Keskes L, Recan D, Bahloul A, Boudawara T, Saad A, Rebai T (2003) Skewed X-chromosome inactivation pattern in SRY positive XX maleness: A case report and review of literature. Ann Genet 46:11–18

    PubMed  Google Scholar 

  • Bukowski TP, Wacksman J, Billmire DA, Lewis AG, Sheldon CA (1995) Testicular autotransplantation: A 17-year review of an effective approach to the management of the intraabdominal testis. J Urol 154:558–561

    CAS  PubMed  Google Scholar 

  • Carrell DT, Emery BR, Liu L (1999) Characterization of aneuploidy rates, protamine levels, ultrastructure, and functional ability of round-headed sperm from two siblings and implications for intracytoplasmic sperm injection. Fertil Steril 71:511–516

    CAS  PubMed  Google Scholar 

  • Chandley AC, Cooke HJ (1994) Human male fertility-Y-linked genes and spermatogenesis. Hum Molec Genet 3:1449–1452

    CAS  PubMed  Google Scholar 

  • Chang B, Borer JG, Tan PE, Diamond DA (1998) Large-cell calcifying Sertoli cell tumor of the testis: case report and review of the literature. Urology 52:520–523

    CAS  PubMed  Google Scholar 

  • Chehval MJ, Purcell RN (1992) Deterioration of semen parameters over time in men with untreated varicocele: evidence of progressive testicular damage. Fertil Steril 57:174

    CAS  PubMed  Google Scholar 

  • Classen J, Dieckmann K, M, Souchon R, Kliesch S, Kuehn M, Loy V; German Testicular Cancer Study Group (2003) Radiotherapy with 16 Gy may fail to eradicate testicular intraepithelial neoplasia: preliminary communication of a dose-reduction trial of the German Testicular Cancer Study Group. 88:828–831

    CAS  Google Scholar 

  • Cools M, Drop SLS, Wolffenbuttel KP, Oosterhuis JW, Looijenga LHJ (2006) Germ cell tumors in the intersex gonad: old paths, new directions, moving frontiers. Endocr Rev 27:468–484

    CAS  PubMed  Google Scholar 

  • Cortes D, Thorup J, Visfeldt J (2000) Hormonal treatment may harm the germ cells in 1 to 3-year-old boys with cryptorchidism. J Urol 163:1290–1292

    CAS  PubMed  Google Scholar 

  • Dadoune JP (1988) Ultrastructural abnormalities of human spermatozoa. Hum Reprod 3:311–318

    CAS  PubMed  Google Scholar 

  • Dam AHDM, Feenstra I, Westphal JR, Ramos L, van Golde RJT, Kremer JAM (2007) Globozoosperia revisited. Hum Reprod Update 13:63–75

    CAS  PubMed  Google Scholar 

  • Davenport M, Brain C, Vandenberg C, Zappala S, Duffy P, Ransley PG, Grant D. (1995) The use of the hCG stimulation test in the endocrine evaluation of cryptorchidism. Br J Urol 76:790–794

    CAS  PubMed  Google Scholar 

  • Del Castillo EB, Trabucco A, de la Balze A (1947) Syndrome produced by ab sence of the germinal epithelium without impairment of the Sertoli or Leydig cells. J Clin Endocr 7:493

    Google Scholar 

  • Deutsche Gesellschaft für Endokrinologie (DGE) (1991) Zur Therapie des Hodenhochstandes. Endokrinologie-Informationen pp 20–22

    Google Scholar 

  • Dieckmann KP, Kulejewski M, Pichlmeier U, Loy V (2007) Diagnosis of contralateral testicular intraepithelial neoplasia (TIN) in patients with testicular germ cell cancer: systematic two-site biopsies are more sensitive than a single random biopsy. Eur Urol 51:175–183

    PubMed  Google Scholar 

  • Donner J, Kliesch S, Brehm R, Bergmann M (2004) From carcinoma in situ to testicular germ cell tumour. APMIS 112:79–88

    PubMed  Google Scholar 

  • von Eckardstein S, Simoni M, Bergmann M, Weinbauer GF, Gassner P, Schepers AG, Nieschlag E (1999). Serum inhibin B in combination with serum follicle-stimulating hormone (FSH) is a more sensitive marker than serum FSH alone for impaired spermatogenesis in men, but cannot predict the presence of sperm in testicular tissue samples. J Clin Endocrinol Metab 84:2496–2501

    Google Scholar 

  • Elsawi MM, Pryor JP, Klufio G, Barnes C, Patton MA (1994) Genital tract function in men with Noonan syndrome. Med Genet 31:468–470

    CAS  Google Scholar 

  • Ergün S, Bruns T, Tauber R (1996) Die vaskuläre Organisation des Plexus pampiniformis beim Mann und ihre Bedeutung bei der antegraden Sklerosierung der Varikozele testis. Urologe A 35:463–467

    PubMed  Google Scholar 

  • European Association of Urology. Guidelines on male infertility. Dohle GR, Weidner W, Jungwirth A, Colpi G, Papp G, Pomerol J, Hargreave TB (2004) Urology online

    Google Scholar 

  • Evers JL, Collins JA (2003) Assessment of efficacy of varicocele repair for male subfertility: a systematic review. Lancet 361:1849–1852

    PubMed  Google Scholar 

  • Evers JH, Collins J, Clarke J (2008) Surgery or embolisation for varicoceles in subfertile men. Cochrane Database Syst Rev CD00479

    Google Scholar 

  • Fechner PY, Marcantonio SM, Jaswaney V, Stetten G, Goodfellow PN, Migeon CJ, Smith KD, Berkovitz GD (1993) The role of the sex-determining region Y gene in the etiology of 46,XX maleness. J Clin Endocrinol Metabol 76:690–695

    CAS  Google Scholar 

  • Ferlin A, Arredi B, Speltra E, Cazzadore C, Selice R, Garolla A, Lenzi A, Foresta C (2007) Molecular and clinical characterization of Y chromosome microdeletions in infertile men: a 10-year experience in Italy. J Clin Endocrinol Metab 92:762–770

    CAS  PubMed  Google Scholar 

  • Forman D, Moller H (1994) Testicular cancer. Cancer Surv 19–20:323–341

    PubMed  Google Scholar 

  • Fragoso MC, Latronico AC, Carvalho FM, Zerbini MC, Marcondes JA, Araujo LM, Lando VS, Frazzatto ET, Mendonca BB, Villares SM (1998) Activating mutation of the stimulatory G protein (gsp) as a putative cause of ovarian and testicular human stromal Leydig cell tumors. J Clin Endocrinol Metab 83:2074–2078

    CAS  PubMed  Google Scholar 

  • Freeman DA (1986) Steroid hormone-producing tumors in man. Endocr Rev 7:204–220

    CAS  PubMed  Google Scholar 

  • Gabrilove JL, Freiberg EK, Leiter E, Nicolis GL (1980) Feminizing and non-feminizing Sertoli cell tumors. J Urol 124:757–767

    CAS  PubMed  Google Scholar 

  • Garner MJ, Turner MC, Ghadirian P, Krewski D (2005) Epidemiology of testicular cancer: an overview. Int J Cancer 116:331–339

    CAS  PubMed  Google Scholar 

  • Giwercman A, von der Maase H, Berthelsen JG, Rorth M, Bertelsen A, Skakkebaek NE (1991) Localized irradiation of testes with carcinoma in situ: effects on Leydig cell function and eradication of malignant germ cells in 20 patients. J Clin Endocr Metab 72:596–603

    Google Scholar 

  • Giwercman A, von der Maase H, Skakkebaek NE (1993) Epidemiological and clinical aspects of carcinoma in situ of the testis. Eur Urol 23:104–114

    CAS  PubMed  Google Scholar 

  • Giwercman A, Thomsen JK, Hertz J, Berthelsen JG, Jensen V, Meinecke B, Thormann L, Storm HH, Skakkebaek NE (1997) Prevalence of carcinoma in situ of the testis in 207 oligozoospermic men from infertile couples: prospective study of testicular biopsies. BMJ 315:989–991

    CAS  PubMed  Google Scholar 

  • Grasso M, Lania C, Castelli M, Galli L, Franzoso F, Rigatti P (2000) Low-grade left varicocele in patients over 30 years old: the effect of spermatic vein ligation on fertility. BJU Int 85:305–307

    CAS  PubMed  Google Scholar 

  • Gromoll J, Simoni M, Nieschlag E (1996) An activating mutation of the follicle-stimulating hormone receptor autonomously sustains spermatogenesis in a hypophysectomized man. J Clin Endocrinol Metab 81:1367–1370

    CAS  PubMed  Google Scholar 

  • Gromoll J, Eiholzer U, Nieschlag E, Simoni M (2000) Male hypogonadism caused by a homozygous deletion of exon 10 of the luteinizing hormone receptor. J Clin Endocr Metab 85:2281–2286

    CAS  PubMed  Google Scholar 

  • Hadziselimovic F, Herzog B (1997) Treatment with a luteinizing hormone-releasing hormone analogue after successful orchiopexy markedly improves the chance of fertility later in life. J Urol 158:1193–1195

    CAS  PubMed  Google Scholar 

  • Hakami M, Mosavy SH (1975) Triorchidism with normal spermatogenesis: an unusual cause for failure of vasectomy. Br J Surg 62:633

    CAS  PubMed  Google Scholar 

  • Hamilton JB, Mestler GE (1969) Mortality and survival: comparison of eunuchs with intact men and women in a mentally retarded population. J Geronterol 24:395–411

    CAS  Google Scholar 

  • Handelsman DJ, Conway AJ, Boylan LM, Turtle JR (1984) Testicular function in potential sperm donors: normal ranges and the effects of smoking and varicocele. Int J Androl 7:369–382

    CAS  PubMed  Google Scholar 

  • Hansen TV, Trykker H, Svennekjaer IL, Hvolby J (1990) Long-term recovery of spermatogenesis after radiotherapy in patients with testicular cancer. Radiother Oncol 18:117–125

    CAS  PubMed  Google Scholar 

  • Hargreave TB (1997) Varicocele: Overview and commentary on the results of the WHO varicocele trial. In: Waites GMH, Frick J, Baker GUH (eds) Current advances in andrology. Monduzzi, Bologna, pp 31–44

    Google Scholar 

  • Hasle H, Mellemgaard A, Nielsen J, Hansen J (1995) Cancer incidence in men with Klinefelter syndrome. Br J Cancer 71:416–420

    CAS  PubMed  Google Scholar 

  • Heidenreich A, Weissbach L, Höltl W, Albers P, Kliesch S, Köhrmann KU, Dieckmann KP; German Testicular Cancer Study Group (2001) Organ sparing surgery of malignant germ cell tumor of the testis. J Urol 166:2161–2165

    CAS  PubMed  Google Scholar 

  • Henna MR, Del Nero RG, Smapaio CZ, Atalah AN, Schettini ST, Castro AA, Soares BG (2004) Hormonal cryptorchidism therapy: systematic review with metanalysis of randomized clinical trials. Pediatr Surg Int 20:357–359

    PubMed  Google Scholar 

  • Hiort O, Wünsch L, Holterhus PM (2005) Differenzialdiagnostische Überlegungen beim Hodenhochstand. Monatsschrift Kinderheilkd 153:430–435

    Google Scholar 

  • Holstein AF, Roosen-Runge EC, Schirren C (1988) Illustrated pathology of human spermatogenesis. Grosse, Berlin

    Google Scholar 

  • Hoorweg-Nijman JJG, Havers HM, Delemarre-van de Waal HA (1994) Effect of human chorionic gonadotrophin (hCG)/follicle-stimulating hormone treatment versushCG treatment alone on testicular descent: a double-blindplacebo-controlled study. Eur J Endocrinol 130:60–64

    CAS  PubMed  Google Scholar 

  • Horing S, Miller FG (2002) Is placebo surgery unethical? N Engl J Med 347:137–139

    Google Scholar 

  • Horowitz M, Wishart JM, O’Loughlin PD, Morris HA, Need AG, Nordin BEC (1992) Osteoporosis and Klinefelter’s syndrome. Clin Endocrinol 36:113–118

    CAS  Google Scholar 

  • Horwich A, Shipley J, Huddart R (2006) Testicular germ-cell cancer. Lancet 367:754–765

    CAS  PubMed  Google Scholar 

  • Hucklenbroich K, Gromoll J, Heinrich M, Hohoff C, Nieshlag E, Simoni M (2005) Partial deletions in the AZFc region of the Y chromosome occur in men with impaired as well as normal spermatogenesis. Hum Reprod 20:191–197

    CAS  PubMed  Google Scholar 

  • Huff DS, Hadziselimovic F, Sayder III HM, Beyth B, Duckett JW (1991) Early postnatal testicular maldevelopment in cryptorchidism. J Urol 146:624–626

    CAS  PubMed  Google Scholar 

  • Hughes IA, Houk C, Ahmed SF, Lee PA: LWPES Consensus Group; ESPE Consensus Group (2006) Consensus statement on management of intersex disorders. Arch Dis Child 91:554–563

    CAS  PubMed  Google Scholar 

  • Hughes IA (2008) Disorders of sex development: a new definition and classification. Best Pract Res Clin Endocrinol Metab 22:119–134

    PubMed  Google Scholar 

  • Huhtaniemi I, Alevizaki M (2006) Gonadotrophin resistance. Best Pract Res Clin Endocrinol Metab 20:561–576

    CAS  PubMed  Google Scholar 

  • Hung AJ, King P, Schlegel PN (2007) Uniform testicular maturation arrest: a unique subset of men with nonobstructive azoospermia. J Urol 178:608–612

    PubMed  Google Scholar 

  • Hutson JM, Hasthorpe S (2005) Testicular descent and cryptorchidism: the state of the art in 2004. J Pediatr Surg 40:297–302

    PubMed  Google Scholar 

  • Ichioka K, Utsunomiya N, Kohei N, Ueda N, Inoue K, Terai A (2006) Adult onset of declining spermatogenesis in a man with nonmosaic Klinefelter’s syndrome. Fertil Steril 85:1511–1512

    PubMed  Google Scholar 

  • Imbeaud S, Belville C, Messika-Zeitoun L, Rey R, di Clemente N, Josso N, Picard J-Y (1996) A 27 base-pair deletion of the anti-Müllerian type II receptor gene is the most common cause of persistent Müllerian duct syndrome. Hum Molec Genet 5:1269–1277

    CAS  PubMed  Google Scholar 

  • Jacobeit J, Kliesch S (2008) Diagnostik und Therapie der Gynäkomastie. DMW 133:2567–2571

    CAS  Google Scholar 

  • Jiang M, Aittomaki K, Nilsson C, Pakarinen P, Iitia A, Torresani T, Simonsen H, Goh V, Petterson K, de la Chapelle A, Huhtaniemi I (1998) The frequency of an inactivating point mutation (566C→T) of the human follicle-stimulating hormone receptor gene in four populationsusing allele-specific hybridization and time-resolved fluorometry. J Clin Endocrinol Metab 83:4338–4343

    CAS  PubMed  Google Scholar 

  • Josso N, Belville C, di Clemente N, Picard JY (2005) AMH and AMH receptor defects in persistent Müllerian duct syndrome. Hum Reprod Update 11:351–156

    CAS  PubMed  Google Scholar 

  • Josso N, Picard JY, Rey R, di Clemente N (2006) Testicular anti-Müllerian hormone: history, genetics, regulation and clinical applications. Pediatr Endocrinol Rev 3:347–358

    PubMed  Google Scholar 

  • Kaleva M, Arsalo A, Louhimo I, Rapola J, Perheentupa J, Henriksen K, Toppari J (1996) Treatment with human chorionic gonadotrophin for cryptorchidism: clinical and histological effects. Int J Androl 19:293–298

    CAS  PubMed  Google Scholar 

  • Kamischke A, Gromoll J, Simoni M, Behre HM, Nieschlag E (1999) Transmission of a Y chromosomal deletion involving the deleted in azoospermia (DAZ) and chromodomain (CDY1) genes from father to son through intracytoplasmic sperm injection: case report. Hum Reprod 14:2320–2322

    CAS  PubMed  Google Scholar 

  • Kamischke A, Nieschlag E (2001) Varicocele treatment in the light of evidence-based andrology. Hum Reprod Update 7:65–69

    CAS  PubMed  Google Scholar 

  • Kamischke A, Baumgardt A, Horst J, Nieschlag E (2003) Clinical and diagnostic features of patients with suspected Klinefelter syndrome: J Androl 24:41–48

    PubMed  Google Scholar 

  • Kliesch S (1998) Tumoren und Fehlbildungen des Nebenhodens und des Samenstranges. In: Krause W, Weidner W (Hrsg) Andrologie —Krankheiten der männlichen Geschlechtsorgane. 3. Aufl Enke, Stuttgart, pp 220–223

    Google Scholar 

  • Kliesch S (2003) Fertilität bei Patienten mit Hodentumorerkrankungen. Der Onkologe 9:955–961

    Google Scholar 

  • Kliesch S (2004) Diagnostik und Primärtherapie des Hodentumors. Urologe 43:1494–1499

    CAS  PubMed  Google Scholar 

  • Kliesch S, Bergmann M, Hertle L, Nieschlag E, Behre HM (1997) Semen parameters and testicular pathology in men with testicular cancer and contralateral carcinoma in situ or bilateral testicular malignancies. Hum Reprod 12:2830–2835

    CAS  PubMed  Google Scholar 

  • Kliesch S, Thomaidis T, Schütte B, Pühse G, Kater B, Roth S, Bergmann M (2003) Update on the diagnostic safety for detection of testicular intraepithelial neoplasia (TIN). APMIS 111:70–74

    PubMed  Google Scholar 

  • Klonisch T, Ivell R, Balvers M, Kliesch S, Fischer B, Bergmann M, Steger K (1999) Expression of relaxin-like factor is down-regulated in human testicular leydig cell neoplasia. Molecular Human Reproduction 5:104–108

    CAS  PubMed  Google Scholar 

  • Kostiner DR, Turek PJ, Reijo RA (1998) Male infertility: analysis of the markers and genes on the human Y chromosome. Hum Reprod 13:3032–3038

    CAS  PubMed  Google Scholar 

  • Krause W, Müller HH, Schäfer H, Weidner W (2002) Does treatment of varicocele improve male fertility? Results of the “Deutsche Varikozelenstudie”, a multicentre study of 14 collaborating centres. Andrologia, 34:164–171

    CAS  PubMed  Google Scholar 

  • Krege S, Beyer J, Souchon R, Albers P, Albrecht W, Algaba F, Bamberg M, Bodrogi I, Bokemeyer C, Cavallin-Ståhl E, Classen J, Clemm C, Cohn-Cedermark G, Culine S, Daugaard G, De Mulder PH, De Santis M, de Wit M, de Wit R, Derigs HG, Dieckmann KP, Dieing A, Droz JP, Fenner M, Fizazi K, Flechon A, Fosså SD, del Muro XG, Gauler T, Geczi L, Gerl A, Germa-Lluch JR, Gillessen S, Hartmann JT, Hartmann M, Heidenreich A, Hoeltl W, Horwich A, Huddart R, Jewett M, Joffe J, Jones WG, Kisbenedek L, Klepp O, Kliesch S, Koehrmann KU, Kollmannsberger C, Kuczyk M, Laguna P, Galvis OL, Loy V, Mason MD, Mead GM, Mueller R, Nichols C, Nicolai N, Oliver T, Ondrus D, Oosterhof GO, Ares LP, Pizzocaro G, Pont J, Pottek T, Powles T, Rick O, Rosti G, Salvioni R, Scheiderbauer J, Schmelz HU, Schmidberger H, Schmoll HJ, Schrader M, Sedlmayer F, Skakkebaek NE, Sohaib A, Tjulandin S, Warde P, Weinknecht S, Weissbach L, Wittekind C, Winter E, Wood L, von der Maase H. (2008) European consensus conference on diagnosis and treatment of germ cell cancer: a report of the second meeting of the European Germ Cell Cancer Consensus group (EGCCCG): Part I. Eur Urol 53:478–496; Part II Eur Urol 53:497–513

    PubMed  Google Scholar 

  • Kremer H, Kraaij R, Toledo SPA, Post M, Fridman JB, Hayashida CY, van Reen M, Milgrom E, Ropers H-H, Mariman E, Themmen APN, Brunner HG (1995) Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene. Nat Genet 9:160–164

    CAS  PubMed  Google Scholar 

  • Ku JH, Kim YH, Jeon YS, Lee NK (1999) The preventive effect of systemic treatment with interferon-alpha2B for infertility from mumps orchitis. BJU Int 84:839–842

    CAS  PubMed  Google Scholar 

  • Kubler A, Schulz G, Cordes U, Beyer J, Krause U (1992) The influence of testosterone substitution on bone mineral density in patients with Klinefelter’s syndrome. Exp Clin Endocrinol 100:129–132

    CAS  PubMed  Google Scholar 

  • Kühnert B, Gromoll J, Kostova E, Tschanter P, Luetjens CM, Simoni M, Nieschlag E (2004) Case report: natural transmission of an AZFc Y-chromosomal microdeletion from father to his sons. Hum Reprod 19:886–888

    PubMed  Google Scholar 

  • Kuhn JM, Mahoudeau JA, Billaud L, Joly J, Rieu M, Gance A, Archambeaud-Mouveroux F, Steg A, Luton JP (1987) Evaluation of diagnostic criteria for Leydig cell tumours in adult men revealed by gynaecomastia. Clin Endocrinol 26:407–416

    CAS  Google Scholar 

  • Kumanov P, Robeva RN, Tomova A (2008) Adolescent varicocele: who is at risk? Pediatrics 121:e53–e57

    PubMed  Google Scholar 

  • Lanfranco F, Kamischke A, Zitzmann M, Nieschlag E (2004) Klinefelter’s syndrome. Lancet 364:273–283

    CAS  PubMed  Google Scholar 

  • Latronico AC, Anasti J, Arnhold IJP, Rapaport R, Menodonca BB, Bloise W, Castro M, Tsigos C, Chrousos GP (1996) Testicular and ovarian resistance to luteinizing hormone caused by inactivating mutations of the luteinizing hormone receptor gene. New Engl J Med 334:507–512

    CAS  PubMed  Google Scholar 

  • Latronico AC, Chai Y, Arnhold IJP, Liu X, Mendonca BB, Segaloff DL (1998) A homozygous microdeletion in helix 7 of the luteinizing hormone receptor associated with familial testicular and ovarian resistance is due to both decreased cell surface expression and impaired effector activation by the cell surface receptor. Mol Endocrinol 12:442–450

    CAS  PubMed  Google Scholar 

  • Laue L, Wu SM, Kudo M, Hsueh AJ, Cutler Jr GB, Griffin JE, Wilson JD, Brain C, Berry AC, Grant DB (1995) A nonsense mutation of the luteinizing hormone receptor gene in Leydig cell hypoplasia. Hum Mol Gen 4:1429–1433

    CAS  PubMed  Google Scholar 

  • Laue L, Wu SM, Kudo M, Bourdony CJ, Cutler GB, Hsueh AJW, Chan WY (1996) Compound heterozygous mutations of the luteinizing hormone receptor gene in Leydig cell hypoplasia. Mol Endocrinol 10:987–997

    CAS  PubMed  Google Scholar 

  • Laven JSE, Haans CF, Mali WPTM, te Velde ER, Wensing CJG, Eimers JM (1992) Effect of varicocele treatment in adolescents: a randomized study. Fertil Steril 58:756

    CAS  PubMed  Google Scholar 

  • Lee JH, Gye MC, Choi KW, Hong JY, Lee YB, Park DW, Lee SJ, Min CK (2007) In vitro differentiation of germ cells from nonobstructive azoospermic patients using three-dimensional culture in a collagen gel matrix. Fertil Steril 87:824–833

    CAS  PubMed  Google Scholar 

  • Lee MM, Donahoe PK, Silverman BL, Hasegawa T, Hasegawa Y, Gustafson ML, Chang Y, MacLaughlin DT (1997) Measurements of serum Müllerian inhibiting substance in the evaluation of children with nonpalpable gonads. N Engl J Med 336:1480–1486

    CAS  PubMed  Google Scholar 

  • Lee PA (2005) Fertility in cryptorchidism: epidemiology and other outcome studies. Urology 66:427–431

    PubMed  Google Scholar 

  • Lemcke B, Zentgraf J, Behre HM, Kliesch S, Nieschlag E (1996) Longterm effects on testicular function of high-dose testosterone treatment for excessively tall stature. J Clin Endocrinol Metab 81:144–152

    Google Scholar 

  • Lenz P, Luetjens CM, Kamischke A, Kühnert B, Kennerknecht I, Nieschlag E (2005) Mosaic status in lymphocytes of infertile men with or without Klinefelter syndrome. Hum Reprod 20:1248–1255

    CAS  PubMed  Google Scholar 

  • Leung AKC (1988) Polyorchidism. AFP 38:153–156

    CAS  Google Scholar 

  • Liu G, Duranteau L, Carel JC, Monroe J, Doyle DA, Shenker A (1999) Leydig cell tumors caused by an activating mutation of the gene encoding the luteinizing hormone receptor. New Engl J Med 341:1731–1736

    CAS  PubMed  Google Scholar 

  • Liu J, Nagy Z, Joris H, Tournaye H, Devroey P, van Steirteghem A (1995) Successful fertilization and establishment of pregnancies after intracytoplasmic sperm injection in patients with globozoospermia. Hum Reprod. 10:626–629

    CAS  PubMed  Google Scholar 

  • Lobacarro J-M, Medlej R, Berta P, Belon C, Galifer R-B, Guthmann J-P, Chevalier C, Czernichow P, Dumas R, Sultan C (1993) PCR analysis and sequencing of the SRY sex determining gene in four patients with bilateral congenital anorchia. Clin Endocrinol 38:197–201

    Google Scholar 

  • Loy V, Dieckmann KP (1993) Prevalence of contralateral testicular intraepithelial neoplasia (carcinoma in situ) in patients with testicular germ cell tumour. Eur Urol 23:120–122

    CAS  PubMed  Google Scholar 

  • Luddi A, Margollicci M, Gambera L, Serafini F, Cioni M, De Leo V, Balestri P, Piomboni P (2009) Spermatogenesis in a man with complete deletion of USP9Y. N Engl J Med 360:881–885

    CAS  PubMed  Google Scholar 

  • Madgar I, Weissenberg R, Lunenfeld B, Karasik A, Goldwasser B (1995) Controlled trial of high spermatic vein ligation for varicocele in infertile men. Fertil Steril 63:120–124

    CAS  PubMed  Google Scholar 

  • Marcus KA, Sweep CG, van der Burgt I, Noordam C (2008) Impaired Sertoli cell function in males diagnosed with Noonan syndrome. J Pediatr Endocrinol Metab 21:1079–1084

    CAS  PubMed  Google Scholar 

  • Marmar JL (2001) Varicocele and male infertility: Part II. The pathophysiology of varicoceles in the light of current molecular and genetic information. Hum Reprod Update 7:461–472

    CAS  PubMed  Google Scholar 

  • Marmar JL, Agarwal A, Prabakaran S, Agarwal R, Short RA, Benoff S, Thomas AJ (2007) Reassessing the valua of varicocelectomy as a treatment for male subfertility with a new meta-analysis. Fertil Steril 88:639–648

    PubMed  Google Scholar 

  • Martens JWM, Verhoef-Post M, Abelin N, Ezabella M, Toledo SPA, Brunner HG, Themmen APN (1998) A homozygous mutation in the luteinizing hormone receptor causes partial Leydig cell hypoplasia: correlation between receptor activity and phenotype. Mol Endocrinol 12:775–784

    CAS  PubMed  Google Scholar 

  • Martin-du Pan RC, Campana A (1993) Physiopathology of spermatogenic arrest. Fertil Steril 60:937–946

    CAS  PubMed  Google Scholar 

  • McEachern R, Houle AM, Garel L, Van Vliet G (2004) Lost and found testes: the importance of the hCG stimulation test and other testicular markers to confirm a surgical declaration of anorchia. Horm Res 62:124–128

    CAS  PubMed  Google Scholar 

  • McElreavey K, Fellous M (1997) Sex-determining genes. Trends Endocr Metab 8:342–346

    CAS  Google Scholar 

  • McElreavey K, Krausz C (1999) Male infertility and the Y chromosome. Am J Hum Genet 64:928–933

    CAS  PubMed  Google Scholar 

  • Meschede D, Horst J (1999) Indikationen, Möglichkeiten, Grenzen und Perspektiven cytogenetischer Untersuchungen für die Reproduktionsmedizin. Med Genetik 11:365–368

    Google Scholar 

  • Meschede D, Louwen F, Eiben B, Horst J (1997) Intracytoplasmic sperm injection pregnancy with fetal trisomy 9p resulting from a balanced paternal translocation. Hum Reprod 12:1913–1914

    CAS  PubMed  Google Scholar 

  • Meschede D, Louwen F, Nippert I, Holzgreve W, Miny P, Horst J (1998) Low rates of pregnancy termination for prenatally diagnosed Klinefelter syndrome and other sex chromosome polysomies. Am J Med Genet 80:330–334

    CAS  PubMed  Google Scholar 

  • Misrahi M, Meduri G, Pissard S, Bouvattier C, Beau I, Loosfelt H, Jolivet A, Rappaport R, Milgrom E, Bougneres P (1997) Comparison of immunocytochemical and molecular features with the phenotype in a case of incomplete male pseudohermaphroditism associated with a mutation of the luteinizing hormone receptor. J Clin Endocrinol Metab 82:2159–2165

    CAS  PubMed  Google Scholar 

  • Mitamura T (1992) Chinese eunuchs. The structure of intimate politics. Tuttle Company, Rutland, Tokyo

    Google Scholar 

  • Montag M, van der Ven K, Ved S, Schmutzler A, Prietl G, Krebs D, Peschka B, Schwanitz G, Albers P, Haidl G, van der Ven H (1997) Success of intracytoplasmic sperm injection in couples with male and/or female chromosome aberrations. Hum Reprod 12:2635–2640

    CAS  PubMed  Google Scholar 

  • Mordel N, Mor-Yosef S, Margalioth EJ et al. (1990) Spermatic vein ligation as treatment for male infertility. J Reprod Med 35:123–127

    CAS  PubMed  Google Scholar 

  • Nagao RR, Plymate SR, Berger RE, Perin EB, Paulsen CA (1986) Comparison of gonadal function between fertile and infertile men with varicoceles. Fertil Steril 46:930–933

    CAS  PubMed  Google Scholar 

  • Narita O, Manba S, Nakanishi T, Ishizuka N (1975) Pregnancy and child-birth in a true hermaphrodite. Obst Gynecol 45:593–595

    CAS  Google Scholar 

  • Neugebauer DCh, Neuwinger J, Jockenhövel F, Nieschlag E (1990) 9+0 axoneme in spermatozoa and some nasal cilia of a patient with totally immotile spermatozoa associated with thickened sheath and short midpiece. Hum Reprod 5:981–986

    CAS  PubMed  Google Scholar 

  • Niedzielski J, Paduch D, Raczynski P (1997) Assessment of adolescent varicocele. Pediatr Surg Int 12:410–413

    CAS  PubMed  Google Scholar 

  • van Niekerk WA (1974) True hermaphroditism. Clinical, morphological and cytogenetic aspects. Harper and Row, New York

    Google Scholar 

  • Nielsen J, Pelsen B, Sornensen K (1988) Follow-up of 30 Klinefelter males treated with testosterone. Clin Genet 33:262–269

    CAS  PubMed  Google Scholar 

  • Nieschlag E (1992) Testosteron, Anabolika und aggressives Verhalten bei Männern. Dt Ärztebl 89:2967–2972

    Google Scholar 

  • Nieschlag E, Behre HM, Schlingheider A, Nashan D, Pohl J, Fischedick AR (1993a) Surgical ligation vs. angiographic embolization of the vena spermatica: a prospective rendomized study for the treatment of varicocele-related infertility. Andrologia 25:233–237

    CAS  PubMed  Google Scholar 

  • Nieschlag E, Nieschlag S, Behre HM (1993b) Lifespan and testosterone. Nature 366:215

    CAS  PubMed  Google Scholar 

  • Nieschlag E, Hertle L, Fischedick A, Abshagen K, Behre HM (1998) Update on treatment of varicocele: counselling as effective as occlusion of the vena spermatica. Hum Reprod 13:2147–2150

    CAS  PubMed  Google Scholar 

  • Nieschlag E, Simoni M, Gromoll J, Weinbauer GF (1999) Role of FSH in the regulation of spermatogenesis: clinical aspects. Clin Endocrinol 51:139–146

    CAS  Google Scholar 

  • Nieschlag E, Kremer, Nieschlag S (2003) Androgens shorten the longevity of women: sopranoslast longer. Exp Clin Endocrinol Diabetes 111:230–231

    CAS  PubMed  Google Scholar 

  • Nilsson S, Edvinsson A, Nilsson B (1979) Improvement of semen and pregnancy rate after ligation and division of the internal spermatic vein: fact or fiction? Brit J Urol 51:591

    CAS  PubMed  Google Scholar 

  • Nöske H-D, Weidner W (1999) Varicocele — a historical perspective. World J Urol 17:151–157

    PubMed  Google Scholar 

  • Noordam MJ, Repping S (2006) The human Y chromosome: a masculine chromosome. Curr Opin Genet Dev 16:225–232

    CAS  PubMed  Google Scholar 

  • Okada H, Goda K, Yamamoto Y, Sofikitis N, Miyagawa I, Mio Y, Koshida M, Horie S (2005) Age as a limiting factor for successful sperm retrieval in patients with nonmosaic Klinefelter’s syndrome. Fertil Steril 84:1662–1664

    PubMed  Google Scholar 

  • Oner AY, Sahin C, Pocan S, Kizilkaya E (2005) Poyorchidism: sonographic and magnetic resonance image findings. Acta Radiol 46:769–771

    CAS  PubMed  Google Scholar 

  • Ortkemper H (1993) Engel wider Willen: Die Welt der Kastraten. Henschel, Berlin

    Google Scholar 

  • O’Sullivan DC, Biyani CS, Heal MR (1995) Polyorchidism: causation and management. Postgrad Med J 71:317–318

    PubMed  Google Scholar 

  • Parma P, Radi O, Vidal V, Chaboissier MC, Dellambra E, Valentini S, Guerra L, Schedl A, Camerino G (2006) R-spondin 1 is essential in sex determination, skin differentiation and malignency. Nat Genet 38:1304–1309

    CAS  PubMed  Google Scholar 

  • Pasqualotto FF, Lucon AM, de Goés PM, Sobreiro BP, Hallak J, Pasqualotto EB, Arap S (2005) Semen profile, tsticular volume, and hormonal levels in infertile patients with varicoceles compared with fertile men with and without varicoceles. Fertil Steril 83:74–77

    PubMed  Google Scholar 

  • Peeraer K, Nijs M, Raick D, Ombelet W (2004) Pregnancy after ICSI with ejaculated immotile spermatozoa from a patient with immotile cilia syndrome: a case report and review of the literature. Reprod Biomed Online 9:659–663

    PubMed  Google Scholar 

  • Petersen PM, Giwercman A, Skakkebaek NE, Rorth M (1998) Gonadal function in men with testicular cancer. Semin Oncol 25:224–233

    CAS  PubMed  Google Scholar 

  • Petersen PM, Giwercman A, Hansen SW, Berthelsen JG, Daugaard G, Rørth M, Skakkebaek NE (1999) Impaired testicular function in patients with carcinoma-in-situ of the testis. J Clin Oncol 17:173–179

    CAS  PubMed  Google Scholar 

  • Petersen PM, Skakkebaek NE, Vistisen K, Rørth M, Giwercman A (1999) Semen quality and reproductive hormones before orchiectomy in men with testicular cancer. J Clin Oncol 17:941–947

    CAS  PubMed  Google Scholar 

  • Pettersson A, Richiardi L, Nordenskjold A, Kaijser M, Akre O (2007) Age at surgery for undescended testis and risk of testsicular cancer. N Engl J Med 356:1835–1841

    CAS  PubMed  Google Scholar 

  • Philibert P, Zenaty D, Lin L, Soskin S, Audran F, Léger J, Achermann JC, Sultan C (2007) Mutational analysis of steroidogenic factor 1 (NR5a1) in 24 boys with bilateral anorchia: a French collaborative study. Hum Reprod 224:3255–3261

    Google Scholar 

  • Pühse G, Secker A., Kemper S, Hertle L., Kliesch S. (2005) Predictability of androgen deficiency in testicular germ cell cancer patients by residual testicular volume. American Urological Association, 100th Annual Meeting, San Antonio, Texas, USA, May 22nd 2005. J Urol 173:119

    Google Scholar 

  • Pyörälä S, Huttunen N-P, Uhari M (1995) A review and meta-analysis of hormonal treatment of cryptorchidism. J Clin Endocrinol Metab 80:2795–2799

    PubMed  Google Scholar 

  • Raman JD, Nobert CF, Goldstein M (2005) Increased incidence of testicular cancer in men presenting with infertility and abnormal semen analysis. 174:1819–1822

    Google Scholar 

  • Ratcliffe S (1999) Long-term outcome in children of sex chromosome abnormalities. Arch Dis Child 80:192–195

    CAS  PubMed  Google Scholar 

  • Ritzen M, Bergh A, Bjerknes R, Christiansen P, Cortes D, Haugen SE, Jörgensen N, Kollin C, Lindahl S, Läckgren G, Mai KM, Nordenskjöld A, Rajpert-De Meyts E, Söder O, Taskinen S, Thorsson A, Thorup J, Toppari J, Virtanen H (2007) Nordic consensus on treatment of undescended testes. Acta Paediatrica 96:638–643

    PubMed  Google Scholar 

  • Rodriguez-Rigau L, Smith K, Steinberger E (1978) Relationship of varicocele to sperm output and fertility of male partners in infertile couples. J Urol 120:691–694

    CAS  PubMed  Google Scholar 

  • Savage MO, Lowe DG (1990) Gonadal neoplasia and abnormal sexual differentiation. Clin Endocrinol 32:519–533

    CAS  Google Scholar 

  • Schiff JD, Palermo GD, Veeck LL, Goldstein M, Rosenwaks Z, Schlegel PN (2005) Success of testicular sperm injection and intracytoplasmic sperm injection in men with Klinefelter syndrome. J Clin Endocrinol Metab 90:6263–6267

    CAS  PubMed  Google Scholar 

  • Schoeneich G, Brändle E (1994) Therapiealternativverhalten bei idiopathischer Varicocele testis. Akt Urol 25:272–276

    Google Scholar 

  • Schulze W, Thoms F, Knuth UA (1999) Testicular sperm extraction: comprehensive analysis with simulataneously performed histology in 1418 biopsies from 766 subfertile men. Hum Reprod 14:82–96

    PubMed  Google Scholar 

  • Schuppe HC, Meinhardt A, Allam JP et al (2008) Chronic orchitis: a neglected cause of male infertility? Andrologia 40:84–91

    PubMed  Google Scholar 

  • Selman H, De Santo M, Sterzik K, Cipollone G, Aragona C, El-Danasouri I (2006) Rescue of spermatogenesis arrest in azoospermic men after long-term gonadotropin treatment. Fertil Steril 86:466–468

    PubMed  Google Scholar 

  • Sharland M, Burch M, McKenna WM, Paton MA (1992) A clinical study of Noonan syndrome. Arch Dis Child 67:178–183

    CAS  PubMed  Google Scholar 

  • Sharland M, Morgan M, Smith G, Burch M, Paton MA (1993) Genetic counselling in Noonan syndrome. Am J Med Genet 45:437–440

    CAS  PubMed  Google Scholar 

  • Sijstermans K, Hack WWM, Meijert RW, van der Voort-Doedens LM (2007) The frequency of undescended testis from birth to adulthood: a review. Int J Androl 31:1–11

    PubMed  Google Scholar 

  • Simm PJ, Zacharin MR (2006) The psychosocial impact of Klinefelter syndrome — a 10 year review. J Ped Endocrinol Metab 19:499–505

    CAS  Google Scholar 

  • Simoni M, Gromoll J, Nieschlag E (1997) The follicle-stimulating hormone receptor: biochemistry, molecular biology, physiology, and pathophysiology. Endocr Rev 18:739–773

    CAS  PubMed  Google Scholar 

  • Simoni M, Gromoll J, Hoppner W, Kamischke A, Krafft T, Stahle D, Nieschlag E (1999) Mutational analysis of the follide-stimulating hormone (FSH) receptor in normal and infertile men: identification and characterization of two discrete FSH receptor isoforms. J Clin Endocrinol Metab 84:751–755

    CAS  PubMed  Google Scholar 

  • Simoni M, Bakker E, Krausz C (2004) EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions. State of the art 2004. Int J Androl 27:240–249

    CAS  PubMed  Google Scholar 

  • Simoni M, Tüttelmann F, Gromoll J, Nieschlag E (2008) Clinical consequences of microdeletions of the Y chromosome: the extended Münster experience. Reprod Biomed Online 16:289–303

    CAS  PubMed  Google Scholar 

  • Skakkebaek NE, Berthelsen JC, Giwercman A, Müller J (1987) Carcinoma-in-situ of the testis: possible origin from gonocytes and precursor of all types of germ cell tumours except spermatocytoma. 10:19–28

    CAS  Google Scholar 

  • Slaney SF, Chalmers, IJ, Affaar NA, Chitty LS (1998) An autosomal or X linked mutation results in true hermaphrodites and 46, XX males in the same family. J Med Genet 35:17–22

    CAS  PubMed  Google Scholar 

  • Stavrou SS, Zhu YS, Cai LQ, Katz MD, Herrera C, Defillo-Ricart M, Imperato-McGinley J (1998) A novel mutation of the human luteinizing hormone receptor in 46XY and 46XX sisters. J Clin Endocrinol Metab 83:2091–2098

    CAS  PubMed  Google Scholar 

  • Storm van’s Gravesande K, Omran H (2005) Primary ciliary dyskinesia: clinical presentation, diagnosis and genetics. Ann Med 37:439–449

    Google Scholar 

  • Swerdlow AJ, Higgins CD, Pike MC (1997) Risk of testicular cancer in cohort of boys with cryptorchidism. BMJ 314:1507–1511

    CAS  PubMed  Google Scholar 

  • Swerdlow AJ, Higgins CD, Schoemaker MJ, Wright AF, Jacobs PA (2005a) Mortality in patients with Klinefelter syndrome in Britain: a cohort study. J Clin Endocrinol Metab 90:6516–6522

    CAS  PubMed  Google Scholar 

  • Swerdlow AJ, Schoemaker MJ, Higgins CD, Wright AF, Jacobs PA (2005b) Cancer incidence and mortality in men with Klinefelter syndrome: a cohort study. J Nat Cancer Inst 97:1204–1210

    PubMed  Google Scholar 

  • Tapanainen JS, Aittomaki K, Min J, Vaskivuo T, Huhtaniemi I (1997) Men homozygous for an inactivating mutation of the follide-stimulating hormone (FSH) receptor gene present variable suppression of spermatogenesis and fertility. Nat Genet 15:205–206

    CAS  PubMed  Google Scholar 

  • Taran I, Elder JS (2006) Results of orchiopexy for the undescended testis. World J Urol 24:231–239

    PubMed  Google Scholar 

  • Templeton A, Cooke I, Shaugh O’Brien PM, eds (1998) Evidencebased fertility treatment. Royal College of Obstetricians and Gynecologists Press, London, p 399

    Google Scholar 

  • Terzoli G, Simoni G, Lalatta F, Colucci G, Lobbiani A (1992) Fertility in a 47,XXY patient: assessment of biological paternity by deoxyribonucleic acid fingerprinting. Fertil Steril 58:821–825

    CAS  PubMed  Google Scholar 

  • Themmen APN, Huhtaniemi IT (2000) Mutations of gonadotropins and gonadotropin receptors. Endocr Rev 21:551–583

    CAS  PubMed  Google Scholar 

  • Toledo SPA, Brunner HG, Kraaij R, Post M, Dahia PLM, Hayashida CY, Kremer H, Themmen APN (1996) An inactivating mutation of the luteinizing hormone receptor causes amenorrhea in a 46,XX female. J Clin Endocrinol Metab 81:3850–3854

    CAS  PubMed  Google Scholar 

  • Unal D, Yeni E, Verit A (2001) Clomiphene citrate versus varicocelectomy in treatment of subclinical varicocele: a prospective randomized study. Int J Urol 8:227–230

    CAS  PubMed  Google Scholar 

  • Van Assche E, Bonduelle M, Tournaye H, Joris H, Verheyen G, Devroey P, van Steirteghem A, Liebaers I (1996) Cytogenetics of infertile men. Hum Reprod 11 (Suppl 4):1–26

    PubMed  Google Scholar 

  • Vermeulen A, Vandeweghe M, Deslypere JP (1986) Prognosis of subfertility in men with corrected or uncorrected varicocele. J Androl 7:147–155

    CAS  PubMed  Google Scholar 

  • Vinci G, Anjot MN, Trivin C, Lottmann H, Brauner R, McElreavey K (2004) An analysis of the genetic factors involved in testicular descent in a cohort of 14 male patients with anorchia. J Clin Endocrinol Metab 89:6282–6285

    CAS  PubMed  Google Scholar 

  • Virtanen HE, Toppari J (2008) Epidemiology and pathogenesis of cryptorchidism. Hum Reprod Update 14:49–58

    CAS  PubMed  Google Scholar 

  • Vogt PH, Edelmann A, Kirsch S, Henegariu O, Hirschmann P, Kiesewetter F, Kohn FM, Schill WB, Farah S, Ramos C, Hartmann M, Hartschuh W, Meschede D, Behre HM, Castel A, Nieschlag E, Weidner W, Grone HJ, Jung A, Engel W, Haidl G (1996) Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11. Hum Mol Genet 5:933–943

    CAS  PubMed  Google Scholar 

  • Vogt PH (2005) AZF deletions and Y chromosomal haplogoups: history and update based on sequence. Hum Reprod Update 11:319–336

    CAS  PubMed  Google Scholar 

  • Vorona E, Zitzmann M, Gromoll J, Schüring AN, Nieschlag E (2007) Clinical, endocrinological, and epigenetic features of the 46,XX male syndrome, compared with 47,XXY Klinefelter patients. J Clin Endocrinol Metab 92:3458–3465

    CAS  PubMed  Google Scholar 

  • Wagneseil F (1933) Chinesische Eunuchen (Zugleich ein Beitrag zur Kenntnis der Kastrationsfolgen und der rassialen und körperbaulichen Bedeutung der anthropologischen Merkmale). Ztschr Morphol Anthropol 32:415–468

    Google Scholar 

  • Weil D, Wang I, Dietrich A, Poustka A, Weissenbach J, Petit C (1994) Highly homologous loci on the X and Y chromosomes are hotspots for ectopic recombinations leading to XX maleness. Nat Genet 7:414–419

    CAS  PubMed  Google Scholar 

  • Weinbauer GF, Behr R, Bergmann M, Nieschlag E (1998) Testicular cAMP responsive element modulator (CREM) protein is expressed in round spermatids but is absent or reduced in men with round spermatid maturation arrest. Mol Hum Reprod 4:9–15

    CAS  PubMed  Google Scholar 

  • Wikström AM, Raivio T, Hadziselimovic F, Wikström S, Tuuri T, Dunkel L (2004) J Clin Endocrinol Metab 89:2263–2270

    PubMed  Google Scholar 

  • Wille R (1991) Kastration in Deutschland. Dt Ärztebl 88:95–96

    Google Scholar 

  • Wilson JD, Roehrborn C (1999) Long-term consequences of castration in men: lessons from the Skoptzy and the eunuchs of the Chinese and Ottoman courts. J Clin Endocrinol Metab 84:4324–4331

    CAS  PubMed  Google Scholar 

  • WHO Laboratory Manual for the Examination and Processing of Human Sperm, Geneva (in press)

    Google Scholar 

  • Wu SM, Hallermeier KM, Laue L, Brain C, Berry AC, Grant DB, Griffin JE, Wilson JD, Cutler Jr GB, Chan WY (1998) Ihactivation of the luteinizing hormone/chorionic gonadotropin receptor by an insertional mutation in Leydig cell hypoplasia. Mol Endocrinol 12:1651–1660

    CAS  PubMed  Google Scholar 

  • Yang Y, Ma MY, Xiao CY, Li L, Li SW, Zhang SZ (2007) Massive deletion in AZFb/b+c and azoospermia with Sertoli cell only and/or maturation arrest. Int J Androl 31:573–578

    PubMed  Google Scholar 

  • Zini A, Boman J, Baazeem A, Jarvi K, Libman J (2007) Natural history of varicocele managemetn in the era of intracytoplasmic sperm injection. Fertil Steril 90:2251–2256

    Google Scholar 

  • Zitzmann M, Deppenbusch M, Gromoll J, Nieschlag E (2004) X-chromosome inactivation patterns and androgen receptor functionality influence phenotype and social characteristics as well as pharmacogenetics of testosterone therapy in Klinefelter patients. J Clin Endocrinol Metab 89:6208–6217

    CAS  PubMed  Google Scholar 

  • Zollner TM, Veraart JC, Wolter M, Hesse S, Villemur B, Wenke A, Werner RJ, Boehncke WH, Jost SS, Scharrer I, Kaufmann R (1997) Leg ulcers in Klinefelter’s syndrome — further evidence for an involvement of plasminogen activator inhibitor-1. Br J Dermatol 136:341–344

    CAS  PubMed  Google Scholar 

  • Zuccarello D, Ferlin A, Cazzadore C, Pepe A, Garolla A, Moretti A, Cordeschi G, Francavilla S, Foresta C (2008) Mutations in dynein genes in patients affected by isolated non-syndromic asthenozoospermia. Hum Reprod 23:1957–1962

    CAS  PubMed  Google Scholar 

  • Zucchi A, Mearini L, Mearini E, Constantini E, Bini V, Porena M (2005) Treatment of varicocele: randomized prospective study on open surgery versus Tauber antegrade sderotherapy. J Androl 26:328–332

    PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Centrum für Reproduktionsmedizin und Andrologie, Universitätsklinikum Münster, Domagkstr. 11, 48149, Münster

    Prof. Dr. med. Dr. h.c. Eberhard Nieschlag

  2. Zentrum für Reproduktionsmedizin und Andrologie, Universitätsklinikum Halle (Saale), Ernst-Grube-Str.40, 06120, Halle

    Prof. Dr. med. Hermann M. Behre

  3. Institut für Humangenetik, Universitätsklinikum Münster, Vesaliusweg 12-14, 48149, Münster

    Prof. Dr. Peter Wieacker

  4. Humangenetische Praxis, Dres. Meschede & Schubert, Herbert-Lewin-Str. 9, 50931, Köln

    Dr. med. Dieter Meschede

  5. Universitäts-Frauenklinik, Ratzeburger Allee 160, 23538, Lübeck

    Prof. Dr. med. Axel Kamischke

  6. Centrum für Reproduktionsmedizin und Andrologie Klinische Andrologie, Domagkstr. 11, 48129, Münster

    Prof. Dr. med. Sabine Kliesch (Chefärztin Klinische Andrologie)

Authors
  1. Prof. Dr. med. Dr. h.c. Eberhard Nieschlag
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Prof. Dr. med. Hermann M. Behre
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Prof. Dr. Peter Wieacker
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Dr. med. Dieter Meschede
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Prof. Dr. med. Axel Kamischke
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Prof. Dr. med. Sabine Kliesch
    View author publications

    You can also search for this author in PubMed Google Scholar

Editor information

Editors and Affiliations

  1. Centrum für Reproduktionsmedizin und Andrologie, Universitätsklinikum Münster, Domagkstr. 11, 48149, Münster

    Eberhard Nieschlag  & Susan Nieschlag M.A.  & 

  2. Zentrum für Reproduktionsmedizin und Andrologie, Universitätsklinikum Halle (Saale), Ernst-Grube-Str.40, 06120, Halle

    Hermann M. Behre

Rights and permissions

Reprints and permissions

Copyright information

© 2009 Springer Medizin Verlag Heidelberg

About this chapter

Cite this chapter

Nieschlag, E., Behre, H.M., Wieacker, P., Meschede, D., Kamischke, A., Kliesch, S. (2009). Störungen im Bereich der Testes. In: Nieschlag, E., Behre, H.M., Nieschlag, S. (eds) Andrologie. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-92963-5_13

Download citation

  • DOI: https://doi.org/10.1007/978-3-540-92963-5_13

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-540-92962-8

  • Online ISBN: 978-3-540-92963-5

  • eBook Packages: Medicine (German Language)

Publish with us

Policies and ethics

Search

Navigation