References
Key articles
Butler G, Srirangalingam U, Faithfull J, et al. Klinefelter syndrome: going beyond the diagnosis. Arch Dis Child. 2023 Mar;108(3):166-71. Abstract
Zitzmann M, Aksglaede L, Corona G, et al. European Academy of Andrology guidelines on Klinefelter syndrome. Endorsing organization: European Society of Endocrinology. Andrology. 2021 Jan;9(1):145-67.Full text Abstract
Gravholt CH, Chang S, Wallentin M, et al. Klinefelter syndrome: integrating genetics, neuropsychology, and endocrinology. Endocr Rev. 2018 Aug 1;39(4):389-423.Full text Abstract
Jayasena CN, Anderson RA, Llahana S, et al. Society for Endocrinology guidelines for testosterone replacement therapy in male hypogonadism. Clin Endocrinol (Oxf). 2022 Feb;96(2):200-19.Full text Abstract
Bhasin S, Brito JP, Cunningham GR, et al. Testosterone therapy in men with hypogonadism: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab. 2018 May 1;103(5):1715-44.Full text Abstract
Reference articles
1. Groth KA, Skakkebæk A, Høst C, et al. Clinical review: Klinefelter syndrome - a clinical update. J Clin Endocrinol Metab. 2013 Jan;98(1):20-30.Full text Abstract
2. Butler G, Srirangalingam U, Faithfull J, et al. Klinefelter syndrome: going beyond the diagnosis. Arch Dis Child. 2023 Mar;108(3):166-71. Abstract
3. Zitzmann M, Aksglaede L, Corona G, et al. European Academy of Andrology guidelines on Klinefelter syndrome. Endorsing organization: European Society of Endocrinology. Andrology. 2021 Jan;9(1):145-67.Full text Abstract
4. Gravholt CH, Chang S, Wallentin M, et al. Klinefelter syndrome: integrating genetics, neuropsychology, and endocrinology. Endocr Rev. 2018 Aug 1;39(4):389-423.Full text Abstract
5. Gravholt CH, Ferlin A, Gromoll J, et al. New developments and future trajectories in supernumerary sex chromosome abnormalities: a summary of the 2022 3rd International Workshop on Klinefelter Syndrome, Trisomy X, and XYY. Endocr Connect. 2023 Mar 1;12(3):e220500.Full text Abstract
6. Zhao Y, Gardner EJ, Tuke MA, et al. Detection and characterization of male sex chromosome abnormalities in the UK Biobank study. Genet Med. 2022 Sep;24(9):1909-19.Full text Abstract
7. Ridder LO, Berglund A, Stochholm K, et al. Morbidity, mortality, and socioeconomics in Klinefelter syndrome and 47,XYY syndrome: a comparative review. Endocr Connect. 2023 May 1;12(5):e230024.Full text Abstract
8. American College of Obstetricians and Gynecologists. Screening for fetal chromosomal abnormalities: ACOG practice bulletin, number 226. Obstet Gynecol. 2020 Oct;136(4):e48-e69.Full text Abstract
9. Dungan JS, Klugman S, Darilek S, et al. Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2023 Feb;25(2):100336.Full text Abstract
10. Johnston M, Warton C, Pertile MD, et al. Ethical issues associated with prenatal screening using non-invasive prenatal testing for sex chromosome aneuploidy. Prenat Diagn. 2023 Feb;43(2):226-34.Full text Abstract
11. Viuff M, Skakkebæk A, Johannsen EB, et al. X chromosome dosage and the genetic impact across human tissues. Genome Med. 2023 Mar 28;15(1):21.Full text Abstract
12. van Rijn S, Swaab H, Aleman A, et al. X chromosomal effects on social cognitive processing and emotion regulation: a study with Klinefelter men (47,XXY). Schizophr Res. 2006 Jun;84(2-3):194-203. Abstract
13. van Rijn S. A review of neurocognitive functioning and risk for psychopathology in sex chromosome trisomy (47,XXY, 47,XXX, 47, XYY). Curr Opin Psychiatry. 2019 Mar;32(2):79-84.Full text Abstract
14. Rogol AD. Human sex chromosome aneuploidies: The hypothalamic-pituitary-gonadal axis. Am J Med Genet C Semin Med Genet. 2020 Jun;184(2):313-9. Abstract
15. Juul A, Gravholt CH, De Vos M, et al. Individuals with numerical and structural variations of sex chromosomes: interdisciplinary management with focus on fertility potential. Front Endocrinol (Lausanne). 2023;14:1160884.Full text Abstract
16. Thirumalai A, Anawalt BD. Epidemiology of male hypogonadism. Endocrinol Metab Clin North Am. 2022 Mar;51(1):1-27. Abstract
17. Bouw N, Swaab H, Tartaglia N, et al. Early social behavior in young children with sex chromosome trisomies (XXX, XXY, XYY): profiles of observed social interactions and social impairments associated with autism spectrum disorder (ASD). J Autism Dev Disord. 2023 Aug;53(8):3194-207.Full text Abstract
18. Davis S, Howell S, Wilson R, et al. Advances in the interdisciplinary care of children with Klinefelter syndrome. Adv Pediatr. 2016 Aug;63(1):15-46. Abstract
19. van Rijn S, de Sonneville L, Swaab H. The nature of social cognitive deficits in children and adults with Klinefelter syndrome (47,XXY). Genes Brain Behav. 2018 Jul;17(6):e12465.Full text Abstract
20. Tartaglia N, Ayari N, Howell S, et al. 48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome. Acta Paediatr. 2011 Jun;100(6):851-60. Abstract
21. St John M, Ponchard C, van Reyk O, et al. Speech and language in children with Klinefelter syndrome. J Commun Disord. 2019 Mar-Apr;78:84-96. Abstract
22. Butler G. Incidence of gynaecomastia in Klinefelter syndrome adolescents and outcome of testosterone treatment. Eur J Pediatr. 2021 Oct;180(10):3201-7. Abstract
23. Jayasena CN, Anderson RA, Llahana S, et al. Society for Endocrinology guidelines for testosterone replacement therapy in male hypogonadism. Clin Endocrinol (Oxf). 2022 Feb;96(2):200-19.Full text Abstract
24. Sánchez XC, Montalbano S, Vaez M, et al. Associations of psychiatric disorders with sex chromosome aneuploidies in the Danish iPSYCH2015 dataset: a case-cohort study. Lancet Psychiatry. 2023 Feb;10(2):129-38. Abstract
25. Kreukels BPC, Köhler B, Nordenström A, et al. Gender dysphoria and gender change in disorders of sex development/intersex conditions: results from the dsd-LIFE dtudy. J Sex Med. 2018 May;15(5):777-85. Abstract
26. Aksglaede L, Skakkebaek NE, Almstrup K, et al. Clinical and biological parameters in 166 boys, adolescents and adults with nonmosaic Klinefelter syndrome: a Copenhagen experience. Acta Paediatr. 2011 Jun;100(6):793-806. Abstract
27. Rose NC, Barrie ES, Malinowski J, et al. Systematic evidence-based review: the application of noninvasive prenatal screening using cell-free DNA in general-risk pregnancies. Genet Med. 2022 Jul;24(7):1379-91.Full text Abstract
28. Badeau M, Lindsay C, Blais J, et al. Genomics-based non-invasive prenatal testing for detection of fetal chromosomal aneuploidy in pregnant women. Cochrane Database Syst Rev. 2017 Nov 10;11(11):CD011767.Full text Abstract
29. Ramasamy R, Chiba K, Butler P, et al. Male biological clock: a critical analysis of advanced paternal age. Fertil Steril. 2015 Jun;103(6):1402-6.Full text Abstract
30. 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. 1988 May;52(2):93-109. Abstract
31. De Souza E, Morris JK, EUROCAT Working Group. Case-control analysis of paternal age and trisomic anomalies. Arch Dis Child. 2010 Nov;95(11):893-7. Abstract
32. Bhasin S, Brito JP, Cunningham GR, et al. Testosterone therapy in men with hypogonadism: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab. 2018 May 1;103(5):1715-44.Full text Abstract
33. Linden MG, Bender BG, Robinson A. Sex chromosome tetrasomy and pentasomy. Pediatrics. 1995 Oct;96(4 pt 1):672-82. Abstract
34. Beighton P, de Paepe A, Danks D, et al. International nosology of heritable disorders of connective tissue, Berlin, 1986. Am J Med Genet. 1988 Mar;29(3):581-94. Abstract
35. De Paepe A, Devereux RB, Dietz HC, et al. Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet. 1996 Apr 24;62(4):417-26. Abstract
36. Hannema SE, Sävendahl L. The evaluation and management of tall stature. Horm Res Paediatr. 2016;85(5):347-52.Full text Abstract
37. Nordenström A, Ahmed SF, van den Akker E, et al. Pubertal induction and transition to adult sex hormone replacement in patients with congenital pituitary or gonadal reproductive hormone deficiency: an Endo-ERN clinical practice guideline. Eur J Endocrinol. 2022 Apr 21;186(6):G9-G49.Full text Abstract
38. British Society for Paediatric Endocrinology and Diabetes. BSPED guideline: testosterone therapy in infancy and adolescence. April 2019 [internet publication].Full text
39. Stancampiano MR, Lucas-Herald AK, Russo G, et al. Testosterone therapy in adolescent boys: the need for a structured approach. Horm Res Paediatr. 2019;92(4):215-28.Full text Abstract
40. Vogiatzi M, Tursi JP, Jaffe JS, et al. Testosterone use in adolescent males: current practice and unmet needs. J Endocr Soc. 2021 Jan 1;5(1):bvaa161.Full text Abstract
41. Corona G, Pizzocaro A, Lanfranco F, et al. Sperm recovery and ICSI outcomes in Klinefelter syndrome: a systematic review and meta-analysis. Hum Reprod Update. 2017 May 1;23(3):265-75.Full text Abstract
42. Deebel NA, Galdon G, Zarandi NP, et al. Age-related presence of spermatogonia in patients with Klinefelter syndrome: a systematic review and meta-analysis. Hum Reprod Update. 2020 Jan 1;26(1):58-72.Full text Abstract
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