- About this Journal ·
- Abstracting and Indexing ·
- Advance Access ·
- Aims and Scope ·
- Annual Issues ·
- Article Processing Charges ·
- Articles in Press ·
- Author Guidelines ·
- Bibliographic Information ·
- Citations to this Journal ·
- Contact Information ·
- Editorial Board ·
- Editorial Workflow ·
- Free eTOC Alerts ·
- Publication Ethics ·
- Reviewers Acknowledgment ·
- Submit a Manuscript ·
- Subscription Information ·
- Table of Contents
International Journal of Endocrinology
Volume 2012 (2012), Article ID 324835, 6 pages
Clinical Presentation of Klinefelter's Syndrome: Differences According to Age
1Servicio de Endocrinología y Metabolismo, Unidad Asistencial “Dr. César Milstein”, Buenos Aires, Argentina
2Sección Endocrinología, Crecimiento y Desarrollo, Departamento de Pediatría, Hospital Italiano de Buenos Aires, Buenos Aires, Argentina
3División de Endocrinología, Hospital de Niños Dr. Ricardo Gutiérrez and, Centro de Investigaciones Endocrinológicas (CEDIE, CONICET), Buenos Aires, Argentina
4Servicio de Endocrinología, Metabolismo y Medicina Nuclear, Hospital Italiano de Buenos Aires, Buenos Aires, Argentina
5Consultorio de Endocrinología, Centro Médico Haedo, Haedo, Argentina
6Sección Andrología, División Endocrinología, Hospital Durand, Buenos Aires, Argentina
Received 29 July 2011; Accepted 8 October 2011
Academic Editor: Ana Claudia Latronico
Copyright © 2012 Néstor Pacenza et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
- H. F. Klinefelter, E. C. Reifenstein, and F. Albright, “Syndrome characterized by gynecomastia, aspermatogenesis without a-Leydigism, and increased excretion of follicle-stimulating hormone,” Journal of Clinical Endocrinology and Metabolism, vol. 2, pp. 615–627, 1942.
- P. A. Jacobs and J. A. Strong, “A case of human intersexuality having a possible XXY sex-determining mechanism,” Nature, vol. 183, no. 4657, pp. 302–303, 1959.
- A. Bojesen, S. Juul, and C. H. Gravholt, “Prenatal and postnatal prevalence of Klinefelter syndrome: a national registry study,” Journal of Clinical Endocrinology and Metabolism, vol. 88, no. 2, pp. 622–626, 2003.
- P. A. Lee, C. P. Houk, S. F. Ahmed et al., “Consensus statement on management of intersex disorders,” Pediatrics, vol. 118, no. 2, pp. e488–e500, 2006.
- I. A. Hughes, C. Houk, S. F. Ahmed, and P. A. Lee, “Consensus statement on management of intersex disorders,” Archives of Disease in Childhood, vol. 91, no. 7, pp. 554–563, 2006.
- R. P. Grinspon and R. A. Rey, “Anti-müllerian hormone and sertoli cell function in paediatric male hypogonadism,” Hormone Research in Paediatrics, vol. 73, no. 2, pp. 81–92, 2010.
- A. M. Wikström, T. Raivio, F. Hadziselimovic, S. Wikström, T. Tuuri, and L. Dunkel, “Klinefelter Syndrome in adolescence: onset of puberty is associated with accelerated germ cell depletion,” Journal of Clinical Endocrinology and Metabolism, vol. 89, no. 5, pp. 2263–2270, 2004.
- L. Aksglæde, A. M. Wikström, E. R. D. Meyts, L. Dunkel, N. E. Skakkebæk, and A. Juul, “Natural history of seminiferous tubule degeneration in Klinefelter syndrome,” Human Reproduction Update, vol. 12, no. 1, pp. 39–48, 2006.
- M. G. Bastida, R. A. Rey, I. Bergadá et al., “Establishment of testicular endocrine function impairment during childhood and puberty in boys with Klinefelter syndrome,” Clinical Endocrinology, vol. 67, no. 6, pp. 863–870, 2007.
- A. Bojesen and C. H. Gravholt, “Klinefelter syndrome in clinical practice,” Nature Clinical Practice Urology, vol. 4, no. 4, pp. 192–204, 2007.
- C. Bergadá, N. E. Farias, B. M. Romero de Behar, and M. Cullen, “Abnormal sex chromatin pattern in cryptorchidism, girls with short stature and other endocrine patients,” Helvetica Paediatrica Acta, vol. 24, no. 4, pp. 372–377, 1969.
- S. Gottlieb, R. A. Rey, and S. Malozowski, “Klinefelter syndrome and cryptorchidism,” The Journal of the American Medical Association, vol. 301, no. 14, pp. 1436–1437, 2009.
- F. Lanfranco, A. Kamischke, M. Zitzmann, and P. E. Nieschlag, “Klinefelter's syndrome,” The Lancet, vol. 364, no. 9430, pp. 273–283, 2004.
- A. Ferlin, D. Zuccarello, B. Zuccarello, M. R. Chirico, G. F. Zanon, and C. Foresta, “Genetic alterations associated with cryptorchidism,” The Journal of the American Medical Association, vol. 300, no. 19, pp. 2271–2276, 2008.
- S. Ratcliffe, “Long term outcome in children of sex chromosome abnormalities,” Archives of Disease in Childhood, vol. 80, no. 2, pp. 192–195, 1999.
- L. Aksglaede, N. E. Skakkebaek, and A. Juul, “Abnormal sex chromosome constitution and longitudinal growth: Serum levels of insulin-like growth factor (IGF)-I, IGF binding protein-3, luteinizing hormone, and testosterone in 109 males with 47,XXY, 47,XYY, or sex-determining region of the Y chromosome (SRY)-positive 46,XX karyotypes,” Journal of Clinical Endocrinology and Metabolism, vol. 93, no. 1, pp. 169–176, 2008.
- T. Ogata, N. Matsuo, and G. Nishimura, “SHOX haploinsufficiency and overdosage: impact of gonadal function status,” Journal of Medical Genetics, vol. 38, no. 1, pp. 1–6, 2001.
- N. Lahlou, I. Fennoy, J. C. Carel, and M. Roger, “Inhibin B and anti-müllerian hormone, but not testosterone levels, are normal in infants with nonmosaic klinefelter syndrome,” Journal of Clinical Endocrinology and Metabolism, vol. 89, no. 4, pp. 1864–1868, 2004.
- L. Aksglaede, P. Christiansen, K. Sørensen, et al., “Serum concentrations of Anti-Müllerian Hormone (AMH) in 95 patients with Klinefelter syndrome with or without cryptorchidism,” Acta Paediatrica, vol. 100, pp. 839–845, 2011.
- A. D. Rogol and N. Tartaglia, “Considerations for androgen therapy in children and adolescents with Klinefelter syndrome (47, XXY),” Pediatric Endocrinology Reviews, vol. 8, supplement 1, pp. 145–150, 2010.
- A. M. Wikström, K. Bay, M. Hero, A. M. Andersson, and L. Dunkel, “Serum insulin-like factor 3 levels during puberty in healthy boys and boys with Klinefelter syndrome,” Journal of Clinical Endocrinology and Metabolism, vol. 91, no. 11, pp. 4705–4708, 2006.
- S. Cabrol, J. L. Ross, I. Fennoy, et al., “Assessment of Leydig and Sertoli cell functions in infants with nonmosaic Klinefelter syndrome: insulin-like peptide 3 levels are normal and positively correlated with LH levels,” Journal of Clinical Endocrinology Metabolism, vol. 96, pp. E746–E753, 2011.
- A. M. Wikström, C. E. Hoei-Hansen, L. Dunkel, and E. R. D. Meyts, “Immunoexpression of androgen receptor and nine markers of maturation in the testes of adolescent boys with Klinefelter syndrome: evidence for degeneration of germ cells at the onset of meiosis,” Journal of Clinical Endocrinology and Metabolism, vol. 92, no. 2, pp. 714–719, 2007.
- J. D. Schiff, G. D. Palermo, L. L. Veeck, M. Goldstein, Z. Rosenwaks, and P. N. Schlegel, “Success of testicular sperm injection and intracytoplasmic sperm injection in men with Klinefelter syndrome,” Journal of Clinical Endocrinology and Metabolism, vol. 90, no. 11, pp. 6263–6267, 2005.
- A. Bojesen, K. Kristensen, N. H. Birkebaek et al., “The metabolic syndrome is frequent in Klinefelter's syndrome and is associated with abdominal obesity and hypogonadism,” Diabetes Care, vol. 29, no. 7, pp. 1591–1598, 2006.
- J. T. Seo, J. S. Lee, T. H. Oh, and K. J. Joo, “The clinical significance of bone mineral density and testosterone levels in Korean men with non-mosaic Klinefelter's syndrome,” BJU International, vol. 99, no. 1, pp. 141–146, 2007.