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Disorders at the Testicular Level

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Andrology

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Abstract

Unilateral or bilateral absence of testicular tissue in genetic males is called anochia. Anorchia has to be differentiated from partial or complete testicular atrophy, e.g. following torsion of orchitis, when, at least histologically, degenerated remains of a male gonad can be found. Anorchia can be congenital of acquired.

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References

  • Abramsky L, Chappie J (1997) 47,XXY (Klinefelter syndrome) and 47,XYY: estimated rates of and indication for postnatal diagnosis with implications for prenatal counselling. Prenat Diagn 17:363–368

    Article  PubMed  CAS  Google Scholar 

  • Adami HO, Arke O, Ekbom A (1997) Epidemiology of testicular cancer. In: Waites GMH, Frick J, Baker GWH (eds) Current advances in andrology (Proceedings of the Vlth International Congress of Andrology). Monduzzi Editore, Bologna, pp 264–266

    Google Scholar 

  • 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

    Article  PubMed  Google Scholar 

  • Bamberg M, Schmoll HJ, Weißbach L (1997) Diagnostik und Therapie von Hodentumoren. Dtsch Ärztebl 94:2050–2056

    Google Scholar 

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

    Article  PubMed  CAS  Google Scholar 

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

    Article  CAS  Google Scholar 

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

    Article  CAS  Google Scholar 

  • Berkovitz GD (1992) Disorders of gonadal determination and differentiation. Semin Perinatol 16:289–298

    PubMed  CAS  Google Scholar 

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

    PubMed  CAS  Google Scholar 

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

    Article  PubMed  CAS  Google Scholar 

  • Breit R (1984) Lower leg ulcers in Klinefelter’s syndrome. In: Bandmann HJ, Breit R (eds) Klinefelter’s syndrome. Springer, Berlin Heidelberg New York, pp 71–79

    Chapter  Google Scholar 

  • Brinkmann B, Brinkmann OA (1993) Orchitis. In: Hertle L, Pohl J (eds) Urologische Therapie. Urban and Schwarzenberg, Munich, pp 454–455

    Google Scholar 

  • Buetow SA (1995) Epidemiology of testicular cancer. Epidemiol Rev 17:433–449

    PubMed  CAS  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

    Article  PubMed  CAS  Google Scholar 

  • Carrell DT, Emery BR, Liu L (1999) Characterization of aneup-loidy 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

    Article  PubMed  CAS  Google Scholar 

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

    PubMed  CAS  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

    Article  PubMed  CAS  Google Scholar 

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

    PubMed  CAS  Google Scholar 

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

    PubMed  CAS  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

    PubMed  CAS  Google Scholar 

  • De Braekeleer M, Dao TM (1991) Cytogenetic studies in male infertility: a review. Hum Reprod 6:245–250

    PubMed  Google Scholar 

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

    Article  Google Scholar 

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

    Google Scholar 

  • Dieckmann KP (1993) Carcinoma in situ (testikuläre intraepitheliale Neoplasie) des Hodens. In: Hertle L, Pohl J (eds) Urologische Therapie. Urban and Schwarzenberg, Munich, pp 456–458

    Google Scholar 

  • Dieckmann KP, Loy V (1993) Testicular intraepithelial neoplasia: the precursor of testicular germ cell tumors. Onkologie 16:61–68

    Article  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

    Article  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

    Article  PubMed  Google Scholar 

  • Evans D, Crichlow RW (1987) Carcinoma of the male breast and Klinefelter’s syndrome. Is there an association? CA Cancer J Clin 37:246–251

    Article  PubMed  CAS  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

    Article  CAS  Google Scholar 

  • Figler TJ, Olson MC, Kinzier GJ (1996) Polyorchidism and rete testis adenoma: ultrasound and MR findings. Abdom Imaging 21:470–472

    Article  PubMed  CAS  Google Scholar 

  • Foresta C, Ferlin A, Garollo A, Moro E, Pistorello M, Barbaux S, Rossato (1998) High frequency of well-defined Y chromosome deletions in idiopathic Sertoli cell-only syndrome. Hum Reprod 13:302–307

    Article  PubMed  CAS  Google Scholar 

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

    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

    Article  PubMed  CAS  Google Scholar 

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

    Article  PubMed  CAS  Google Scholar 

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

    PubMed  CAS  Google Scholar 

  • Ghiacy S (1996) Case report: ultrasound diagnosis of polyorchidism. Br J Radiol 69:78

    Article  PubMed  CAS  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

    PubMed  CAS  Google Scholar 

  • Giwercman A, Clausen OPF, Skakkebaek NE (1988) Carcinoma in situ of the testis: aneuploid cells in semen. Br Med J 296:1762–1764

    Article  CAS  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 Endocrinol Metab 72:596–603

    Article  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

    Article  PubMed  CAS  Google Scholar 

  • Gohji K, Goto A, Takenaka S, Arakawa S, Matumoto O, Hikosaka K, Kamidono S (1989) Extragonadal germ cell tumor in the retrovesical region associated with Klinefelter’s syndrome. A case report and review of the literature. J Urol 141:133–136

    PubMed  CAS  Google Scholar 

  • Greiner R (1982) Die Erholung der Spermatogenese nach fraktionierter, niedrig dosierter Bestrahlung der männlichen Gonaden. Strahlentherapie 158:342–355

    PubMed  CAS  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

    Article  PubMed  CAS  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 (LH) receptor: Differential action of human chorionic gonadotropin and LH. J Clin Endocr Metab 85:2496–2501

    Article  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

    Article  PubMed  CAS  Google Scholar 

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

    Article  PubMed  CAS  Google Scholar 

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

    Article  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

    Article  PubMed  CAS  Google Scholar 

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

    Article  PubMed  CAS  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

    Article  PubMed  CAS  Google Scholar 

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

    Article  PubMed  CAS  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

    Article  CAS  Google Scholar 

  • Hsu LYF (1994) Phenotype/karyotype correlations of Y chromosome aneuploidy with emphasis on structural aberrations in postnatally diagnosed cases. Am J Med Genet 53:108–140

    Article  PubMed  CAS  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

    PubMed  CAS  Google Scholar 

  • Hutson JM, Hasthorpe S, Heyns CF (1997) Anatomical and functional aspects of testicular descent and cryptorchidism. Endocr Rev 18:259–280

    Article  PubMed  CAS  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

    Article  PubMed  CAS  Google Scholar 

  • Jamieson CR, van der Burgt I, Brady AF, van Reen M, Elsawi MM, Hol F, Jeffery S, Patton MA, Mariman E (1994) Map** a gene for Noonan syndrome to the long arm of chromosome 12. Nat Genet 8:357–360

    Article  PubMed  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 populations using allele-specific hybridization and time-resolved fluorometry. J Clin Endocrinol Metab 83:4338–4343

    Article  PubMed  CAS  Google Scholar 

  • Josso N, Boussin L, Knebelmann B, Nihoul-Fékété C, Picard JY (1991) Anti-Müllerian hormone and intersex state. Trends Endocrinol Metab 2:227–233

    Article  PubMed  CAS  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

    Article  PubMed  CAS  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. Hum Reprod 14:2320–2322

    Article  PubMed  CAS  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

    Article  PubMed  CAS  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

    Article  PubMed  CAS  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 tumors in adult men revealed by gynaecomastia. Clin Endocrinol 26:407–416

    Article  CAS  Google Scholar 

  • Lange R, Michelmann HW, Engel W (1990) Chromosomale Ursachen der Infertilität beim Mann. Fertilität 6:17–28

    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. N Engl J Med 334:507–512

    Article  PubMed  CAS  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

    Article  PubMed  CAS  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

    Article  PubMed  CAS  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

    Article  PubMed  CAS  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

    PubMed  CAS  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

    Article  PubMed  CAS  Google Scholar 

  • Lee PA (1993) Fertility in cryptorchidism. Adolesc Endocrinol 22:479–490

    CAS  Google Scholar 

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

    Article  Google Scholar 

  • Leung AK (1988) Polyorchidism. Am Fam Physician 38:153–156

    PubMed  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. N Engl J Med 341:1731–1736

    Article  PubMed  CAS  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

    PubMed  CAS  Google Scholar 

  • Lobocarro 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

    Article  Google Scholar 

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

    PubMed  CAS  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

    PubMed  CAS  Google Scholar 

  • Marsman JWP, Schats R (1994) Review: the subclinical varicocele debate. Hum Reprod 9:1–8

    PubMed  CAS  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

    Article  PubMed  CAS  Google Scholar 

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

    Google Scholar 

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

    Article  PubMed  CAS  Google Scholar 

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

    Article  PubMed  CAS  Google Scholar 

  • Merlino GT, Stahle C, Jhappan C, Linton R, Mahon KA, Willingham MC (1991) Inactivation of an epidermal growth factor receptor transgene whose product is overexpressed and comparmentalized during spermatogenesis. Genes Dev 5:1395–1406

    Article  PubMed  CAS  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, Froster UG, Gullotta F, Nieschlag E (1993) Reproductive failure in a patient with neurofibromatosis-Noonan syndrome. Am J Med Genet 47:346–351

    Article  PubMed  CAS  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

    Article  PubMed  CAS  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 penotype in a case of incomplete male pseudohermaphroditism associated with a mutation of the luteinizing hormone receptor. J Clin Endocrinol Metab 82:2159–2165

    Article  PubMed  CAS  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

    Article  PubMed  CAS  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

    PubMed  CAS  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

    PubMed  CAS  Google Scholar 

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

    PubMed  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

    PubMed  CAS  Google Scholar 

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

    Article  Google Scholar 

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

    Article  PubMed  CAS  Google Scholar 

  • Nieschlag E (1992) Testosteron, Anabolika und aggressives Verhalten bei Männern. Dtsch 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

    Article  PubMed  CAS  Google Scholar 

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

    Article  PubMed  CAS  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

    Article  PubMed  CAS  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

    Article  CAS  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? Br J Urol 51:591

    Article  PubMed  CAS  Google Scholar 

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

    Article  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

    Article  PubMed  Google Scholar 

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

    PubMed  CAS  Google Scholar 

  • Prop** P (1989) Psychiatrische Genetik. Springer, Berlin Heidelberg New York, pp 307–315

    Book  Google Scholar 

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

    Article  Google Scholar 

  • Ratcliffe SG (1994) The psychological and psychiatric consequences of sex chromosome abnormalties in children, based on population studies. In: Poustka F (ed) Basic approaches to genetic and molecularbiolological developmental psychiatry. Quintessenz, Berlin, pp 99–122

    Google Scholar 

  • Reubinoff BE, Abeliovich D, Werner M, Schenker JG, Safran A, Lewin A (1998) A birth in non-mosaic Klinefelter’s syndrome after testicular fine needle aspiration, intracytoplasmic sperm injection and preimplantation genetic diagnosis. Hum Reprod 13:1887–1892

    Article  PubMed  CAS  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

    PubMed  CAS  Google Scholar 

  • Rovet J, Netley C, Bailey J, Keenan M, Stewart D (1995) Intelligence and achievement in children with extra X aneuploidy: a longitudinal perspective. Am J Med Genet (Neuropsychiatr Genet) 60:356–363

    Article  CAS  Google Scholar 

  • Rüther U, Stilz S, Röhl E, Nunnensiek Ch, Rassweiler J, Dörr U, Jipp P (1995) Successful interferon-alpha therapy for a patient with acute mumps orchitis. Eur Urol 27:174–176

    PubMed  Google Scholar 

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

    Article  CAS  Google Scholar 

  • Schoeneich G, Brandie E (1994) Therapiealternativerhalten bei idiopathischer Varicocele testis. Aktuel Urol 25:272–276

    Article  Google Scholar 

  • Schulze W, Thorns 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

    Article  PubMed  Google Scholar 

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

    Article  PubMed  CAS  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

    Article  PubMed  CAS  Google Scholar 

  • Simoni M, Gromoll J, Dworniczak B, Rolf C, Abshagen K, Kamischke A, Carani C, Meschede D, Horst J, Behre HM, Nieschlag E (1997) Screening for deletions of the Y chromosome involving the DAZ (Deleted in Azoospermia) gene in azoospermia and severe oligozoospermia. Fertil Steril 67:542–547

    Article  PubMed  CAS  Google Scholar 

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

    Article  PubMed  CAS  Google Scholar 

  • Simoni M, Bakker E, Eurlings MCM, Matthijs G, Moro E, Müller CR, Vogt PH (1999b) Laboratory guidelines for molecular diagnosis of Y-chromosomal microdeletions. Int J An-drol 22:292–299

    Article  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

    Article  PubMed  CAS  Google Scholar 

  • Staessen C, Coonen E, Van Assche E, Tournaye H, Joris H, Devroey P, Van Steirteghem AC, Liebaers I (1996) Preimplantation diagnosis for X and Y normality in embryos from three Klinefelter patients. Hum Reprod 11:1650–1653

    Article  PubMed  CAS  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

    Article  PubMed  CAS  Google Scholar 

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

    Article  PubMed  CAS  Google Scholar 

  • Templeton A, Cooke I, Shaugh O’Brien PM (eds) (1998) Evidence-based 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

    PubMed  CAS  Google Scholar 

  • Themmen AP, Martens JW, Brunner HG (1998) Activating and inactivating mutations in LH receptors. Mol Cell Endocrinol 145:137–142

    Article  PubMed  CAS  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

    Article  PubMed  CAS  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

    Article  PubMed  Google Scholar 

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

    Google Scholar 

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

    PubMed  CAS  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

    Article  PubMed  CAS  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

    Article  Google Scholar 

  • Wagenseil F (1933) Chinesische Eunuchen (Zugleich ein Beitrag zur Kenntnis der Kastrationsfolgen und der rassialen und körperbaulichen Bedeutung der anthropologischen Merkmale). Z 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 hot-spots for ectopic recombinations leading to XX maleness. Nat Genet 7:414–419

    Article  PubMed  CAS  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

    Article  PubMed  CAS  Google Scholar 

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

    Google Scholar 

  • Wishahi MM (1991) Anatomy of the venous drainage of the human testis: testicular vein cast, microdessection and radiographic demonstratin. A new anatomical concept. Eur Urol 20:154–160

    PubMed  CAS  Google Scholar 

  • WHO Laborhandbuch zur Untersuchung des menschlichen Ejakulats und der Spermien/Zervixschleim-Interaktion (1999). Übersetzung: Nieschlag E, Nieschlag S, Bals-Pratsch M, Behre HM, Knuth UA, Meschede D, Niemeier M, Schick A, 4th edn. Springer, Berlin Heidelberg New York

    Google Scholar 

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

    Article  PubMed  CAS  Google Scholar 

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Authors
  1. E. Nieschlag
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  2. H. M. Behre
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  3. D. Meschede
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  4. A. Kamischke
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Editors and Affiliations

  1. Institute of Reproductive Medicine of the University, Domagkstr. 11, D-48129, Münster, Germany

    Eberhard Nieschlag

  2. Andrology Unit, Department of Urology of the University, Magdeburger Str. 16, D-06097, Halle, Germany

    Hermann M. Behre

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Nieschlag, E., Behre, H.M., Meschede, D., Kamischke, A. (2001). Disorders at the Testicular Level. In: Nieschlag, E., Behre, H.M. (eds) Andrology. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-04491-9_8

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  • DOI: https://doi.org/10.1007/978-3-662-04491-9_8

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