Brief ReportBrief Report
Unsuspected Klinefelter Syndrome Diagnosed during Oncologic Evaluation: A Case Series
Margaret M. Eberl, Maria R. Baer, Martin C. Mahoney, Sheila N. J. Sait, AnneMarie W. Block and Carolyn D. Farrell
The Journal of the American Board of Family
Practice March 2005, 18 (2) 132-139; DOI: https://doi.org/10.3122/jabfm.18.2.132
Margaret M. Eberl
MD
Maria R. Baer
MD
Martin C. Mahoney
MD, PhD
Sheila N. J. Sait
PhD
AnneMarie W. Block
PhD
Carolyn D. Farrell
MS, CNP, CGC

References
- ↵Smyth CM, Bremner WJ. Klinefelter syndrome. Arch Intern Med Jun 22 1998; 158: 1309–14.
- Hamerton JL, Canning N, Ray M, Smith S. A cytogenetic survey of 14,069 newborn infants. I. Incidence of chromosome abnormalities. Clin Genet Oct 1975; 8: 223–43.
- Maclean N, Harnden DG, Brown WM, Bond J, Mantle DJ. Sex-chromosome abnormalities in newborn babies. Lancet 1964; 13: 286–90.
- ↵Tyler CV Jr, Kungl PA, Green LA. Genetic diagnosis in adulthood. A case report. J Fam Pract 1998; 47: 227–30.
- ↵Wiesner G, Everman D, Cassidy S. Constitutional Chromosome Disorders in Adults. In: The Genetic Basis of Common Diseases (King R, Rotter J, Motulsky A, editors), 2nd ed. Oxford: Oxford University Press Inc; 2002. p. 989–1019.
- ↵Jacobs PA, Hassold TJ, Whittington E, et al. Klinefelter’s syndrome: an analysis of the origin of the additional sex chromosome using molecular probes. Ann Hum Genet May 1988; 52: 93–109.
- ↵Smyth CM. Diagnosis and treatment of Klinefelter syndrome. Hosp Pract (Off Ed) Sep 15 1999; 34: 111–2, 115–6, 119–20.
- ↵Block AW. Cancer cytogenetics. In: The principles of clinical cytogenetics (Gersen S, Keagle M, editors). Totowa (NJ): Humana Press Inc.; 1999. p. 345–420.
- ↵Baer M. Cytogentics. In: Wintrobe’s clinical hematology (Lee G, editor), vol. 1, 10th ed. Baltimore: Lippincott Williams & Wilkins; 1999. p. 98–123.
- ↵Mitelman F, Johansson B, Mertens F. Mitelman database of chromosome aberrations in cancer [database on the Internet]. Bethesda (MD): National Cancer Institute. c2004 - [cited 2004 Oct 29]. Available from: http://cgap.nci.nih.gov/Chromosomes/Mitelman.
- ↵
- ↵Jacobs PA, Strong JA. A case of human intersexuality having a possible XXY sex-determining mechanism. Nature 1959; 183: 302–3.
- ↵Mandoki MW, Sumner GS, Hoffman RP, Riconda DL. A review of Klinefelter’s syndrome in children and adolescents. J Am Acad Child Adolesc Psychiatry 1991; 30: 167–72.
- ↵Carothers AD, Filippi G. Klinefelter’s syndrome in Sardinia and Scotland. Comparative studies of parental age and other aetiological factors in 47,XXY. Hum Genet 1988; 81: 71–5.
- ↵Bojesen A, Juul S, Gravholt CH. Prenatal and postnatal prevalence of Klinefelter syndrome: a national registry study. J Clin Endocrinol Metab 2003; 88: 622–6.
- ↵Foresta C, Galeazzi C, Bettella A, Stella M, Scandellari C. High incidence of sperm sex chromosomes aneuploidies in two patients with Klinefelter’s syndrome. J Clin Endocrinol Metab 1998; 83: 203–5.
- Rives N, Joly G, Machy A, Simeon N, Leclerc P, Mace B. Assessment of sex chromosome aneuploidy in sperm nuclei from 47,XXY and 46,XY/47,XXY males: comparison with fertile and infertile males with normal karyotype. Mol Hum Reprod Feb 2000; 6: 107–12.
- Blanco J, Egozcue J, Vidal F. Meiotic behaviour of the sex chromosomes in three patients with sex chromosome anomalies (47,XXY, mosaic 46,XY/47,XXY and 47,XYY) assessed by fluorescence in-situ hybridization. Hum Reprod 2001; 16: 887–92.
- ↵Ulug U, Bener F, Akman MA, Bahceci M. Partners of men with Klinefelter syndrome can benefit from assisted reproductive technologies. Fertil Steril Oct 2003; 80: 903–6.
- ↵Luisetto G, Mastrogiacomo I, Bonanni G, et al. Bone mass and mineral metabolism in Klinefelter’s syndrome. Osteoporos Int 1995; 5: 455–61.
- ↵
- ↵Swerdlow AJ, Hermon C, Jacobs PA, et al. Mortality and cancer incidence in persons with numerical sex chromosome abnormalities: a cohort study. Ann Hum Genet Mar 2001; 65: 177–88.
- ↵Hultborn R, Hanson C, Kopf I, Verbiene I, Warnhammar E, Weimarck A. Prevalence of Klinefelter’s syndrome in male breast cancer patients. Anticancer Res 1997; 17: 4293–7.
- ↵Thomas DB, Gao DL, Ray RM, et al. Randomized trial of breast self-examination in Shanghai: final results. J Natl Cancer Inst 2002; 94: 1445–57.
- ↵Semiglazov VF, Moiseenko VM, Uzunova VG, Migmanova N, Popova RT. Results of phase I study of the effectiveness of self-examination in a program of early detection of breast cancer. Vopr Onkol 1985; 31: 18–25.
- ↵
- Screening for breast cancer: recommendations and rationale. Ann Intern Med 2002; 137: 344–6.
- United States Preventive Services Task Force. Screening for breast cancer: recommendations and rationale [monograph on the Internet]. Rockville (MD): Agency for Healthcare Research and Quality; 2002 [cited 2004 Feb 24]. Available from: http://www.ahrq.gov/clinic/3rduspstf/breastcancer/brcanrr.htm.
- ↵Hasle H, Mellemgaard A, Nielsen J, Hansen J. Cancer incidence in men with Klinefelter syndrome. Br J Cancer 1995; 71: 416–20.
- ↵Horsman DE, Pantzar JT, Dill FJ, Kalousek DK. Klinefelter’s syndrome and acute leukemia. Cancer Genet Cytogenet 1987; 26: 375–6.
- ↵
- ↵Connor M, Ferguson-Smith M. Essential medical genetics, 5th ed. Oxford: Blackwell Science Ltd; 1984.
- ↵Pei D, Sheu WH, Jeng CY, Liao WK, Fuh MM. Insulin resistance in patients with Klinefelter’s syndrome and idiopathic gonadotropin deficiency. J Formos Med Assoc 1998; 97: 534–40.
- ↵Veraart JC, Hamulyak K, Neumann HA. Leg ulcers and Klinefelter’s syndrome. Arch Dermatol 1995; 131: 958–9.
In this issue
The Journal of the American Board of Family
Practice
Vol. 18, Issue 2
1 Mar 2005
Unsuspected Klinefelter Syndrome Diagnosed during Oncologic Evaluation: A Case Series
Margaret M. Eberl, Maria R. Baer, Martin C. Mahoney, Sheila N. J. Sait, AnneMarie W. Block, Carolyn D. Farrell
The Journal of the American Board of Family
Practice Mar 2005, 18 (2) 132-139; DOI: 10.3122/jabfm.18.2.132
Unsuspected Klinefelter Syndrome Diagnosed during Oncologic Evaluation: A Case Series
Margaret M. Eberl, Maria R. Baer, Martin C. Mahoney, Sheila N. J. Sait, AnneMarie W. Block, Carolyn D. Farrell
The Journal of the American Board of Family
Practice Mar 2005, 18 (2) 132-139; DOI: 10.3122/jabfm.18.2.132
Jump to section
Related Articles
- No related articles found.
Cited By...
- No citing articles found.