Page 50 - Read Online
P. 50
Page 84 Schmidt et al. J Transl Genet Genom 2024;8:77-84 https://dx.doi.org/10.20517/jtgg.2023.43
3. Smyth CM, Bremner WJ. Klinefelter syndrome. Arch Intern Med 1998;158:1309-14. DOI PubMed
4. Pacenza N, Pasqualini T, Gottlieb S, et al. Clinical presentation of klinefelter’s syndrome: differences according to age. Int J
Endocrinol 2012;2012:324835. DOI PubMed PMC
5. Visootsak J, Graham JM Jr. Klinefelter syndrome and other sex chromosomal aneuploidies. Orphanet J Rare Dis 2006;1:42. DOI
PubMed PMC
6. Samango-Sprouse CA, Counts DR, Tran SL, Lasutschinkow PC, Porter GF, Gropman AL. Update on the clinical perspectives and care
of the child with 47,XXY (klinefelter syndrome). Appl Clin Genet 2019;12:191-202. DOI PubMed PMC
7. Kamischke A, Baumgardt A, Horst J, Nieschlag E. Clinical and diagnostic features of patients with suspected klinefelter syndrome. J
Androl 2013;24:41-8. PubMed
8. Tanner JM, Prader A, Habich H, Ferguson-Smith MA. Genes on the Y chromosome influencing rate of maturation in man: skeletal age
studies in children with klinefelter’s (XXY) and Turner’s (XO) syndromes. Lancet 1959;274:141-4. DOI
9. Hsueh WA, Hsu TH, Federman DD. Endocrine features of klinefelter’s syndrome. Medicine 1978;57:447-62. DOI
10. Allan CA, McLachlan RI. Testosterone deficiency in men. Diagnosis and management. Aust Fam Physician 2003;32:422-7. PubMed
11. Becker M, Hesse V. Minipuberty: why does it happen? Horm Res Paediatr 2020;93:76-84. DOI PubMed
12. Kung KT, Browne WV, Constantinescu M, Noorderhaven RM, Hines M. Early postnatal testosterone predicts sex-related differences
in early expressive vocabulary. Psychoneuroendocrinology 2016;68:111-6. DOI PubMed
13. Hines M, Spencer D, Kung KT, Browne WV, Constantinescu M, Noorderhaven RM. The early postnatal period, mini-puberty,
provides a window on the role of testosterone in human neurobehavioural development. Curr Opin Neurobiol 2016;38:69-73. DOI
PubMed
14. Cabrol S, Ross JL, Fennoy I, Bouvattier C, Roger M, Lahlou N. 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. J Clin Endocrinol
Metab 2011;96:E746-53. DOI PubMed PMC
15. Samango-Sprouse CA, Yu C, Porter GF, Tipton ES, Lasutschinkow PC, Gropman AL. A review of the intriguing interaction between
testosterone and neurocognitive development in males with 47,XXY. Curr Opin Obstet Gynecol 2020;32:140-6. DOI
16. World Health Organization. Child growth standards. Available from: https://www.who.int/tools/child-growth-standards/standards
[Last accessed on 28 Feb 2023].
17. Ratcliffe SG, Masera N, Pan H, McKie M. Head circumference and IQ of children with sex chromosome abnormalities. Dev Med
Child Neurol 1994;36:533-44. DOI PubMed
18. Ratcliffe S. Long-term outcome in children of sex chromosome abnormalities. Arch Dis Child 1999;80:192-5. DOI PubMed PMC
19. Davis SM, Reynolds RM, Dabelea DM, Zeitler PS, Tartaglia NR. Testosterone treatment in infants with 47,XXY: effects on body
composition. J Endocr Soc 2019;3:2276-85. DOI PubMed PMC
20. Schibler D, Brook CG, Kind HP, Zachmann M, Prader A. Growth and body proportions in 54 boys and men with Klinefelter’s
syndrome. Helv Paediat Acta 1974;29:325-33. PubMed
21. Ratcliffe SG, Pan H, McKie M. Growth during puberty in the XYY boy. Ann Hum Biol 1992;19:579-87. DOI
22. Samango-Sprouse C, Stapleton EJ, Lawson P, et al. Positive effects of early androgen therapy on the behavioral phenotype of boys
with 47,XXY. Am J Med Genet C Semin Med Genet 2015;169:150-7. DOI

