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Spermatogenesis in two patients with the fragile X syndrome

I. Histology: light and electron microscopy

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Summary

Light and electron microscopic studies on testicular biopsies were carried out in two men, 40 and 44 year old, with the fra(X) form of mental retardation and macroorchidism. Distinct interstitial edema, an increased amount of lysosomal inclusions in Sertoli cells, and disturbance of spermatid differentiation were found in both probands. Additionally, some extent of tubular atrophy was demonstrated in one patient. The impairment of spermatogenesis is discussed with respect to pressure effects on the germinal epithelium due to the edema.

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References

  • Berkovitz GD, Wilson DP, Carpenter NJ, Brown TR, Migeon CJ (1986) Gonadal function in men with the Martin-Bell (fragile-X) syndrome. Am J Med Genet 23:227–239

    Google Scholar 

  • Bowen P, Biederman B, Swallow KA (1978) The X-linked syndrome of macroorchidism and mental retardation: further observations. Am J Med Genet 2:409–414

    Google Scholar 

  • Breen DH, Braunstein GD, Neufeld N, Kudish H (1981) Benign macro-orchidism in a pubescent boy. J Urol 125:589–591

    Google Scholar 

  • Cantú JM, Scaglia HE, Medina M, González-Diddi M, Morato T, Moreno ME, Pérez-Palacios G (1976) Inherited congenital normofunctional testicular hyperplasia and mental deficiency. Hum Genet 33:23–33

    Google Scholar 

  • Cantú JM, Scaglia HE, González-Diddi M, Hernández-Jáuregui P, Morato T, Moreno ME, Giner J, Alcántar A, Herrera D, Pérez-Palacios G (1978) Inherited congenital normofunctional testicular hyperplasia and mental deficiency. A corroborative study. Hum Genet 41:331–339

    Google Scholar 

  • Carmi R, Meryash DL, Wood J, Gerald PS (1984) Fragile-X syndrome ascertained by the presence of macro-orchidism in a 5-month-old infant. Pediatrics 74:883–886

    Google Scholar 

  • Chandley AC (1984) Infertility and chromosome abnormality. In: Clarke JR (ed) Oxford reviews of reproductive biology, vol 6. Clarendon Press, Oxford, pp 1–46

    Google Scholar 

  • Chandley AC, Edmond P, Christie S, Gowans L, Fletcher J, Franckiewicz A, Newton M (1975) Cytogenetics and infertility in man. I. karyotype and seminal analysis. Results of a five-year survey of men attending a subfertility clinic. Ann Hum Genet 39:231–254

    Google Scholar 

  • De Kretser DM, Kerr JB, Paulsen CA (1981) Evaluation of the ultrastructural changes in the human Sertoli cell in testicular disorders and the relationship of the changes to the levels of serum FSH. Int J Androl 4:129–144

    Google Scholar 

  • Del Pozo BC, Millard PR (1983) Demonstration of the fra(X) in lymphocytes, fibroblasts, and bone marrow in a patient with testicular tumour. J Med Genet 20:225–227

    Google Scholar 

  • Gupta AS, Kothari LK, Dhruva A, Bapna R (1975) Surgical sterilization by vasectomy and its effect on the structure and function of the testis in man. Br J Surg 62:59–63

    Google Scholar 

  • Holstein AF (1975) Morphologische Studien an abnormen Spermatiden und Spermatozoen des Menschen. Virchows Arch [A] 367: 93–112

    Google Scholar 

  • Helstein AF, Roosen-Runge EC (1981) Atlas of human spermatogenesis, Grosse, Berlin

    Google Scholar 

  • Hutton L, Rankin RN, Pozsonyi J (1985) High resolution ultrasound of macro-orchidism in mental retardation. J Clin Ultrasound 13: 19–22

    Google Scholar 

  • Jacobs PA, Glover TW, Mayer M, Fox P, Gerrard JW, Dunn HG, Herbst DS (1980) X-linked mental retardation: a study of 7 families. Am J Med Genet 7:471–489

    Google Scholar 

  • Jenkins IL, Muir VY, Blacklock NJ, Turk JL, Hanley HG (1979) Consequences of vasectomy: an immunological and histological study related to subsequent fertility. Br J Urol 51:406–410

    Google Scholar 

  • Jenkins EC, Brown WT, Brooks J, Duncan CJ, Rudelli RD, Wisniewski HM (1984) Experience with prenatal fragile X detection. Am J Med Genet 17:215–239

    Google Scholar 

  • Kubota R (1969) Electron microscopic studies on the testis after vasectomy in rats and men. Jpn J Urol 60:373–397

    Google Scholar 

  • Majumdar SK, Van Buskirk M, Kalenscher F (1977) Electron microscopic studies of gerbil testis after vasectomy. In: Yates RD, Gordon M (eds) Male reproductive system. Fine structure analysis by scanning and transmission electron microscopy. Masson, New York Paris Barcelona, pp 101–114

    Google Scholar 

  • Rudelli RD, Jenkins EC, Wisniewski K, Moretz R, Byrne J, Brown WT (1983) Testicular size in fetal fragile X syndrome. Lancet I:1221–1222

    Google Scholar 

  • Rudelli RD, Brown WT, Wisniewski K, Jenkins EC, Laure-Kamionowska M, Connell F, Wisniewski HM (1985) Adult fragile X syndrome. Clinico-neuropathologic findings. Acta Neuropathol (Berl) 67:289–295

    Google Scholar 

  • Ruvalcaba RHA, Myhre SA, Roosen-Runge EC, Beckwith JB (1977) X-linked mental deficiency megalotestes syndrome. JAMA 238:1646–1650

    Google Scholar 

  • Schulze C (1974) On the morphology of the human Sertoli cell. Cell Tissue Res 153:339–355

    Google Scholar 

  • Schwinger E, Froster-Iskenius U (1984) Das Marker-X-Syndrom. Enke, Stuttgart

    Google Scholar 

  • Shapiro LR, Hasen J, Gordon G, Southren AL, Wilmot PL, Brenholz P (1982) Testicular insufficiency and disordered thyroid metabolism in the fragile X chromosome syndrome. Am J Hum Genet 34:110A

    Google Scholar 

  • Siew S, Troen P, Nankin HR (1977) Ultrastructure of testicular biopsies from infertile men. In: Troen P, Nankin HR (eds) The testis in normal and infertile men. Raven Press, New York, pp 137–152

    Google Scholar 

  • Stieve H (1930) Männliche Genitalorgane. In: von Möllendorff W (ed) Handbuch der mikroskopischen Anatomie des Menschen, vol 7, part 2. Springer, Berlin

    Google Scholar 

  • Turleau C, Czernichow P, Gorin R, Royer P, de Grouchy J (1979) Debilité mentale liée au sexe, visage particulier, macroorchidie et zone de fragilité de l'X. Ann Génét (Paris) 22:205–209

    Google Scholar 

  • Turner G, Eastman C, Casey J, McLeay A, Procopis P, Turner B (1975) X-linked mental retardation associated with macroorchidism. J Med Genet 12:367–371

    Google Scholar 

  • Turner G, Till R, Daniel A (1978) Marker X chromosomes, mental retardation and macro-orchidism. N Engl J Med 299:1472

    Google Scholar 

  • Turner G, Daniel A, Frost M (1980) X-linked mental retardation, macro-orchidism, and the Xq27 fragile site. J Pediatr 96:837–841

    Google Scholar 

  • Turner G, Opitz JM, Brown WT, Davies KE, Jacobs PA, Jenkins EC, Mikkelsen M, Partington MW, Sutherland GR (1986) Conference report: Second International Workshop on the Fragile X and on X-linked Mental Retardation. Am J Med Genet 23:11–67

    Google Scholar 

  • Viehberger G, Lunglmayr G, Kratzik C (1984) Lysosomale Aktivität der Sertoli Zelle bei idiopathischen Hodendysfunktionen. In: Schirren C, Semm K (eds) Fortschritte der Fertilitätsforschung, vol 12. Grosse, Berlin, pp 193–199

    Google Scholar 

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Authors and Affiliations

  1. Institut für Pathologie der Medizinischen Universität zu Lübeck, Ratzeburger Allee 160, D-2400, Lübeck, Federal Republic of Germany

    R. Johannisson

  2. Institut für Humangenetik der Medizinischen Universität zu Lübeck, Ratzeburger Allee 160, D-2400, Lübeck, Federal Republic of Germany

    H. Rehder & E. Schwinger

  3. Klinik für Dermatologie und Venerologie der Medizinischen Universität zu Lübeck, Ratzeburger Allee 160, D-2400, Lübeck, Federal Republic of Germany

    V. Wendt

Authors
  1. R. Johannisson
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  2. H. Rehder
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  3. V. Wendt
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  4. E. Schwinger
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Johannisson, R., Rehder, H., Wendt, V. et al. Spermatogenesis in two patients with the fragile X syndrome. Hum Genet 76, 141–147 (1987). https://doi.org/10.1007/BF00284911

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