Fertility and Sterility
Volume 90, Issue 5 , Pages 2011.e17-2011.e21 , November 2008

A case of 45,X male: genetic reevaluation and hormonal and metabolic follow-up in adult age

  • Antonio Mancini, M.D.

      Affiliations

    • Chair of Endocrinology, Catholic University of the Sacred Heart, Rome, Italy
    • Corresponding Author InformationReprint requests: Antonio Mancini, M.D., Chair of Endocrinology, Catholic University of the Sacred Heart, Largo A. Gemelli 8, 00168, Rome, Italy (FAX: 39-06-35500486).
    • ,
  • Marcella Zollino, M.D.

      Affiliations

    • Institute of Human Genetics, “A. Gemelli” University Hospital, Catholic University of the Sacred Heart, Rome, Italy
    • ,
  • Erika Leone, M.D.

      Affiliations

    • Chair of Endocrinology, Catholic University of the Sacred Heart, Rome, Italy
    • ,
  • Giuseppe Grande, M.D.

      Affiliations

    • Chair of Endocrinology, Catholic University of the Sacred Heart, Rome, Italy
    • ,
  • Roberto Festa, M.D.

      Affiliations

    • Chair of Endocrinology, Catholic University of the Sacred Heart, Rome, Italy
    • ,
  • Rosetta Lecce, B.D.

      Affiliations

    • Institute of Human Genetics, “A. Gemelli” University Hospital, Catholic University of the Sacred Heart, Rome, Italy
    • ,
  • Alfredo Pontecorvi, M.D.

      Affiliations

    • Chair of Endocrinology, Catholic University of the Sacred Heart, Rome, Italy
    • ,
  • Giovanni Neri, M.D.

      Affiliations

    • Institute of Human Genetics, “A. Gemelli” University Hospital, Catholic University of the Sacred Heart, Rome, Italy

Received 8 June 2008 ,Revised 4 July 2008 ,Accepted 9 July 2008.

References 

  1. De la Chapelle A, Page DC, Brown L, Kaski U, Parvinen T, Tippett PA. The origin of 45, X males. Am J Hum Genet. 1986;38:330–340
  2. Abbas N, Novelli G, Stella NC, Triolo O, Corrado F, Fellous M, et al. A 45, X male with molecular evidence of translocation of Y euchromatic onto chromosome 1. Hum Genet. 1990;86:94–98
  3. Sun F, Oliver-Bonet M, Turek PJ, Ko E, Martin RH. Meiotic studies in an azoospermic human translocation (Y;1) carrier. Mol Human Reprod. 2005;11:361–364
  4. Klein OD, Backstrand K, Cotter PD, Marco E, Sherr E, Slavotinek A. Case report: Y;6 translocation with deletion of 6p. Clin Dysmorphol. 2005;14:93–96
  5. Brisset S, Izard V, Misrahi M, Aboura A, Madoux S, Ferlicot S, et al. Cytogenetic, molecular and testicular tissue studies in an infertile 45,X male carrying an unbalanced (Y;22) translocation: case report. Hum Reprod. 2005;20:2168–2172
  6. Disteche CM, Brown L, Saal H, Friedman C, Thuline HC, Hoar DI, et al. Molecular detection of a translocation (Y;15) in a 45, X male. Hum Genet. 1986;74:372–377
  7. Maserati E, Waibel F, Weber B, Fraccaro M, Gal A, Pasquali F, et al. A 45,X male with a Yp/18 translocation. Hum Genet. 1986;74:126–132
  8. Gimelli G, Cinti R, Varone P, Naselli A, Di Battista E, Pezzolo A. The phenotype of a 45,X male with a Y/18 translocation. Clin Genet. 1996;49:37–41
  9. Arnemann J, Schnittger S, Hinkel GK, Tolkendorf E, Schmidtke J, Hansmann I. A sterile male with 45, X0 and a Y;22 translocation. Hum Genet. 1991;87:134–138
  10. Buonadonna AL, Cariola F, Caroppo E, Di Carlo A, Fiorente P, Valenzano MC, et al. Molecular and cytogenetic characterization of an azoospermic male with a de-novo Y;14 translocation and alternate centromere inactivation. Hum Reprod. 2002;17:564–569
  11. Delobel B, Djlelati R, Gabriel-Robez O, Croquette MF, Rousseaux-Prevost R, Rousseaux J, et al. Y-autosome translocation and infertility: usefulness of molecular, cytogenetic and meiotic studies. Hum Genet. 1998;102:98–102
  12. Schempp W, Weber B, Serra A, Neri G, Gal A, Wolf U. A 45, X male with evidence of a translocation of Y euchromatin onto chromosome 15. Hum Genet. 1985;71:150–154
  13. Gal A, Weber B, Neri G, Serra A, Muller U, Schempp W, et al. A 45, X male with Y-specific DNA translocated onto chromosome 15. Am J Hum Genet. 1987;40:477–488
  14. Bonora E, Targher G, Alberiche M, Bonadonna RC, Saggiani F, Zenere MB, et al. Homeostasis model assessment closely mirrors the glucose clamp technique in the assessment of insulin sensitivity: studies in subjects with various degrees of glucose tolerance and insulin sensitivity. Diabetes Care. 2000;23:57–63
  15. World Health Organization . Laboratory manual for the examination of human semen and semen-cervical mucus interaction. 4th ed.. New York: Cambridge University Press; 1999;1–138
  16. Tacchino RM, Mancini A, Perrelli M, Bianchi A, Giampietro A, Milardi D, et al. Body composition and energy expenditure: relationship and changes in obese subjects before and after biliopancreatic diversion. Metabolism. 2003;52:552–558
  17. Simoni M, Bakker E, Krausz C. EAA/EMQN best practice guidelines for molecular diagnosis of y-chromosomal microdeletions. State of the art. Int J Androl. 2004;27:240–249
  18. Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults. Executive summary of the third report of the National Cholesterol Education Program (NCEP) Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults (Adult Treatment Panel III). JAMA. 2001;285:2486–2497
  19. Haffner SM, Valdez RA, Mykkanen L, Stern MP, Katz MS. Decreased testosterone and dehydroepiandrosterone sulphate concentrations are associated with increased insulin and glucose concentrations in non-diabetic men. Metabolism. 1994;43:599–603
  20. Haffner SM, Karhapaa P, Mykkanen L, Laakso M. Insulin resistance, body fat distribution, and sex hormone in men. Diabetes. 1994;43:212–219
  21. Channer KS, Jones TH. Cardiovascular effects of testosterone: implications of the “male menopause”. Heart. 2003;89:121–122
  22. English KM, Mandour O, Steeds RP, Diver MJ, Jones TH, Channer KS. Men with coronary artery disease have lower levels of testosterone than those with normal coronary angiograms. Eur Heart J. 2000;21:890–895
  23. Morris P, Pugh PJ, Hall J. The relationship between smoking, statin therapy and testosterone in men with coronary artery disease. Endocrine Abstracts. 2002;3:248
  24. English K, Steeds RP, Jones TH, Channer KS. Testosterone and ischaemic heart disease: is there a link?. QJM. 1997;90:787–791
  25. Alexandersen P, Haarbo J, Byrjalsen I, Lawaetz H, Christiansen C. Natural androgens inhibit male atherosclerosis. A study of castrated, cholesterol fed rabbits. Circ Res. 1999;84:813–819
  26. English KM, Jones RD, Jones TH, Morice AH, Channer KS. Testosterone acts as a coronary vasodilator by a calcium channel antagonist action. J Endocrinol Invest. 2002;25:455–458
  27. Webb CM, McNeill JG, Hayward CS, de Zeigler D, Collins P. Effects of testosterone on coronary vasomotor regulation in men with coronary heart disease. Circulation. 1999;100:1690–1696
  28. Webb CM, Adamson DL, de Zeigler D, Collins P. Effect of acute testosterone on myocardial ischaemia in men with coronary artery disease. Am J Cardiol. 1999;83:437–439
  29. Wu FCW, von Eckardstein A. Androgens and coronary artery disease. Endocr Rev. 2002;24:183–217
  30. Liu PY, Death AK, Handelsman DJ. Androgens and cardiovascular disease. Endocr Rev. 2003;24:313–340

 A.M. has nothing to disclose. M.Z. has nothing to disclose. E.L. has nothing to disclose. G.G. has nothing to disclose. R.F. has nothing to disclose. R.L. has nothing to disclose. A.P. has nothing to disclose. G.N. has nothing to disclose.

PII: S0015-0282(08)01498-2

doi: 10.1016/j.fertnstert.2008.07.1723

Fertility and Sterility
Volume 90, Issue 5 , Pages 2011.e17-2011.e21 , November 2008

Article Tools

* Image Usage & Resolution