Smyth CM, Bremner WJ (Jun 22 1998) Klinefelter syndrome. Arch Intern Med 158(12):1309–1314. https://doi.org/10.1001/archinte.158.12.1309

Samango-Sprouse CA, Counts DR, Tran SL, Lasutschinkow PC, Porter GF, Gropman AL (2019) Update on the clinical perspectives and care of the child with 47,XXY (Klinefelter Syndrome). Appl Clin Genet 12:191–202. https://doi.org/10.2147/TACG.S180450

Article  CAS  PubMed  PubMed Central  Google Scholar 

Klinefelter HF, Reifenstein ECJ, Albright F (1942) Syndrome characterized by Gynecomastia, Aspermatogenesis without A-Leydigism, and increased excretion of follicle-stimulating Hormone1. J Clin Endocrinol Metab 2:615–627

Article  CAS  Google Scholar 

Skakkebaek A, Gravholt CH, Chang S, Moore PJ, Wallentin M (Jun 2020) Psychological functioning, brain morphology, and functional neuroimaging in Klinefelter syndrome. Am J Med Genet C Semin Med Genet 184(2):506–517. https://doi.org/10.1002/ajmg.c.31806

Tartaglia N, Cordeiro L, Howell S, Wilson R, Janusz J The spectrum of the behavioral phenotype in boys and adolescents 47,XXY (Klinefelter syndrome), Pediatr Endocrinol Rev, vol. 8 Suppl 1, no. 0 1, pp. 151-9, Dec 2010. [Online]. Available: https://www.ncbi.nlm.nih.gov/pubmed/21217607

Ross JL et al (2012) Behavioral and social phenotypes in boys with 47,XYY syndrome or 47,XXY Klinefelter syndrome, Pediatrics, vol. 129, no. 4, pp. 769 – 78, Apr https://doi.org/10.1542/peds.2011-0719

van Rijn S (Mar 2019) A review of neurocognitive functioning and risk for psychopathology in sex chromosome trisomy (47,XXY, 47,XXX, 47, XYY). Curr Opin Psychiatry 32(2):79–84. https://doi.org/10.1097/YCO.0000000000000471

Leggett V, Jacobs P, Nation K, Scerif G, Bishop DV (2010) Neurocognitive outcomes of individuals with a sex chromosome trisomy: XXX, XYY, or XXY: a systematic review, Dev Med Child Neurol, vol. 52, no. 2, pp. 119 – 29, Feb https://doi.org/10.1111/j.1469-8749.2009.03545.x

Boada R, Janusz J, Hutaff-Lee C, Tartaglia N (2009) The cognitive phenotype in Klinefelter syndrome: a review of the literature including genetic and hormonal factors, Dev Disabil Res Rev, vol. 15, no. 4, pp. 284 – 94, https://doi.org/10.1002/ddrr.83

Bryant DM et al (May 4 2011) Neuroanatomical phenotype of Klinefelter syndrome in childhood: a voxel-based morphometry study. J Neurosci 31(18):6654–6660. https://doi.org/10.1523/JNEUROSCI.5899-10.2011

Raznahan A et al (2016) Globally Divergent but Locally Convergent X- and Y-Chromosome Influences on Cortical Development, Cereb Cortex, vol. 26, no. 1, pp. 70 – 9, Jan https://doi.org/10.1093/cercor/bhu174

Mankiw C et al (May 24 2017) Allometric analysis detects brain size-independent effects of Sex and Sex chromosome complement on human cerebellar Organization. J Neurosci 37(21):5221–5231. https://doi.org/10.1523/JNEUROSCI.2158-16.2017

Hong DS et al (2014) Influence of the X-chromosome on neuroanatomy: evidence from Turner and Klinefelter syndromes, J Neurosci, vol. 34, no. 10, pp. 3509-16, Mar 5 https://doi.org/10.1523/JNEUROSCI.2790-13.2014

Skakkebaek A et al (2014) Neuroanatomical correlates of Klinefelter syndrome studied in relation to the neuropsychological profile. Neuroimage Clin 4:1–9. https://doi.org/10.1016/j.nicl.2013.10.013

Article  PubMed  Google Scholar 

Bryant DM et al (Dec 2012) Sex chromosomes and the brain: a study of neuroanatomy in XYY syndrome. Dev Med Child Neurol 54(12):1149–1156. https://doi.org/10.1111/j.1469-8749.2012.04418.x

Wallentin M et al (2016) Klinefelter syndrome has increased brain responses to auditory stimuli and motor output, but not to visual stimuli or Stroop adaptation. Neuroimage Clin 11:239–251. https://doi.org/10.1016/j.nicl.2016.02.002

Article  PubMed  PubMed Central  Google Scholar 

van Rijn S, Aleman A, Swaab H, Vink M, Sommer I, Kahn RS (Apr 2008) Effects of an extra X chromosome on language lateralization: an fMRI study with Klinefelter men (47,XXY). Schizophr Res 101:1–3. https://doi.org/10.1016/j.schres.2008.02.001

van Rijn S, Swaab H, Baas D, de Haan E, Kahn RS, Aleman A (Aug 2012) Neural systems for social cognition in Klinefelter syndrome (47,XXY): evidence from fMRI. Soc Cogn Affect Neurosci 7:689–697. https://doi.org/10.1093/scan/nsr041

Brandenburg-Goddard MN, van Rijn S, Rombouts SA, Veer IM, Swaab H (Dec 2014) A comparison of neural correlates underlying social cognition in Klinefelter syndrome and autism. Soc Cogn Affect Neurosci 9(12):1926–1933. https://doi.org/10.1093/scan/nst190

Whitman ET et al Resting-state functional connectivity and psychopathology in Klinefelter Syndrome (47, XXY). Cereb Cortex, 31, 9, pp. 4180–4190, Jul 29 2021, https://doi.org/10.1093/cercor/bhab077

Itti E et al (Apr 2006) The structural brain correlates of cognitive deficits in adults with Klinefelter’s syndrome. J Clin Endocrinol Metab 91(4):1423–1427. https://doi.org/10.1210/jc.2005-1596

Foland-Ross LC, Gil M, Shrestha SB, Chromik LC, Hong D, Reiss AL (Jul 30 2021) Cortical gray matter structure in boys with Klinefelter syndrome. Psychiatry Res Neuroimaging 313:111299. https://doi.org/10.1016/j.pscychresns.2021.111299

Goddard MN, Swaab H, Rombouts SA, van Rijn S (Sep 2016) Neural systems for social cognition: gray matter volume abnormalities in boys at high genetic risk of autism symptoms, and a comparison with idiopathic autism spectrum disorder. Eur Arch Psychiatry Clin Neurosci 266:523–531. https://doi.org/10.1007/s00406-015-0623-z

Giedd JN et al (2007) XXY (Klinefelter syndrome): a pediatric quantitative brain magnetic resonance imaging case-control study, Pediatrics, vol. 119, no. 1, pp. e232-40, Jan https://doi.org/10.1542/peds.2005-2969

Sato T et al (Feb 10 2004) Brain masculinization requires androgen receptor function. Proc Natl Acad Sci U S A 101(6):1673–1678. https://doi.org/10.1073/pnas.0305303101

Nunez JL, Huppenbauer CB, McAbee MD, Juraska JM, DonCarlos LL (Sep 5 2003) Androgen receptor expression in the developing male and female rat visual and prefrontal cortex. J Neurobiol 56(3):293–302. https://doi.org/10.1002/neu.10236

Raznahan A et al (Sep 28 2010) Longitudinally mapping the influence of sex and androgen signaling on the dynamics of human cortical maturation in adolescence. Proc Natl Acad Sci U S A 107(39):16988–16993. https://doi.org/10.1073/pnas.1006025107

Foland-Ross LC, Ross JL, Reiss AL (2019) Androgen treatment effects on hippocampus structure in boys with Klinefelter syndrome, Psychoneuroendocrinology, vol. 100, pp. 223–228, Feb https://doi.org/10.1016/j.psyneuen.2018.09.039

Ross JL et al (2017) Androgen Treatment Effects on Motor Function, Cognition, and Behavior in Boys with Klinefelter Syndrome, J Pediatr, vol. 185, pp. 193–199 e4, Jun https://doi.org/10.1016/j.jpeds.2017.02.036

Reynolds C, Kamphaus R (2015) Behavior assessment system for children–Third Edition (BASC-3). Bloomingt MN: Pearson

Gioia GA, Isquith PK, Guy SC, Kenworthy L (2015) BRIEF-2: behavior rating inventory of executive function. Psychological Assessment Resources Lutz, FL

Constantino JN, Gruber CP (2012) Social Responsiveness Scale Second Edition (SRS-2): Manual. Western Psychological Services (WPS)

Ursula K-K, Deimann P, Felzmann A (2022) Wechsler Intelligence Scale for Children–Fifth Edition (WISC-V). Hogrefe

Chao-Gan Y, Yu-Feng Z (2010) A MATLAB Toolbox for Pipeline Data Analysis of resting-state fMRI. Front Syst Neurosci 4:13. https://doi.org/10.3389/fnsys.2010.00013

Article  PubMed  PubMed Central  Google Scholar 

Friston KJ, Williams S, Howard R, Frackowiak RS, Turner R (1996) Movement-related effects in fMRI time-series, Magnetic resonance in medicine, vol. 35, no. 3, pp. 346 – 55, Mar https://doi.org/10.1002/mrm.1910350312

Ashburner J A fast diffeomorphic image registration algorithm, Neuroimage, vol. 38, no. 1, pp. 95–113, Oct 15 2007, https://doi.org/10.1016/j.neuroimage.2007.07.007

Tzourio-Mazoyer N et al (2002) Automated anatomical labeling of activations in SPM using a macroscopic anatomical parcellation of the MNI MRI single-subject brain, Neuroimage, vol. 15, no. 1, pp. 273 – 89, Jan https://doi.org/10.1006/nimg.2001.0978

Desikan RS et al (2006) An automated labeling system for subdividing the human cerebral cortex on MRI scans into gyral based regions of interest, Neuroimage, vol. 31, no. 3, pp. 968 – 80, Jul 1 https://doi.org/10.1016/j.neuroimage.2006.01.021

Zou QH et al An improved approach to detection of amplitude of low-frequency fluctuation (ALFF) for resting-state fMRI: fractional ALFF. J Neurosci Methods, 172, 1, pp. 137 – 41, Jul 15 2008, https://doi.org/10.1016/j.jneumeth.2008.04.012

Zang Y, Jiang T, Lu Y, He Y, Tian L (2004) Regional homogeneity approach to fMRI data analysis, Neuroimage, vol. 22, no. 1, pp. 394–400, May https://doi.org/10.1016/j.neuroimage.2003.12.030

Jenkinson M, Bannister P, Brady M, Smith S (2002) Improved optimization for the robust and accurate linear registration and motion correction of brain images, Neuroimage, vol. 17, no. 2, pp. 825 – 41, Oct https://doi.org/10.1016/s1053-8119(02)91132-8

Benjamini Y, Hochberg Y (2018) Controlling the false Discovery rate: a practical and powerful Approach to multiple testing. J Roy Stat Soc: Ser B (Methodol) 57(1):289–300. https://doi.org/10.1111/j.2517-6161.1995.tb02031.x

Article  Google Scholar 

Cai W, Griffiths K, Korgaonkar MS, Williams LM, Menon V (Aug 2021) Inhibition-related modulation of salience and frontoparietal networks predicts cognitive control ability and inattention symptoms in children with ADHD. Mol Psychiatry 26(8):4016–4025. https://doi.org/10.1038/s41380-019-0564-4

Liu N, Cui X, Bryant DM, Glover GH, Reiss AL (Mar 1 2015) Inferring deep-brain activity from cortical activity using functional near-infrared spectroscopy. Biomed Opt Express 6(3):1074–1089. https://doi.org/10.1364/BOE.6.001074

Balters S et al (Dec 2021) Functional near-infrared spectroscopy brain imaging predicts symptom severity in youth exposed to traumatic stress. J Psychiatr Res 144:494–502. https://doi.org/10.1016/j.jpsychires.2021.10.020

Yeo BT et al (Sep 2011) The organization of the human cerebral cortex estimated by intrinsic functional connectivity. J Neurophysiol 106(3):1125–1165. https://doi.org/10.1152/jn.00338.2011

Menon V, Uddin LQ (2010) Saliency, switching, attention and control: a network model of insula function. Brain Struct Funct 214:5–6 655 – 67, Jun. https://doi.org/10.1007/s00429-010-0262-0

Article  Google Scholar 

Gogolla N, Takesian AE, Feng G, Fagiolini M, Hensch TK (2014) Sensory integration in mouse insular cortex reflects GABA circuit maturation, Neuron, vol. 83, no. 4, pp. 894–905, Aug 20 https://doi.org/10.1016/j.neuron.2014.06.033

Craig AD (Jan 2009) How do you feel–now? The anterior insula and human awareness. Nat Rev Neurosci 10(1):59–70. https://doi.org/10.1038/nrn2555

Rajmohan V, Mohandas E (Apr 2007) The limbic system. Indian J Psychiatry 49(2):132–139. https://doi.org/10.4103/0019-5545.33264

Nishitani N, Schurmann M, Amunts K, Hari R (2005) Broca’s region: from action to language, Physiology (Bethesda), vol. 20, pp. 60 – 9, Feb https://doi.org/10.1152/physiol.00043.2004

Binder JR The Wernicke area: Modern evidence and a reinterpretation, Neurology, vol. 85, no. 24, pp. 2170-5, Dec 15 2015, https://doi.org/10.1212/WNL.0000000000002219

Lukic S et al (2021) Common and distinct neural substrates of sentence production and comprehension, Neuroimage, vol. 224, p. 117374, Jan 1 https://doi.org/10.1016/j.neuroimage.2020.117374

Bender BG, Puck MH, Salbenblatt JA, Robinson A (1984) The development of four unselected 47,XYY boys, Clin Genet, vol. 25, no. 5, pp. 435 – 45, May https://doi.org/10.1111/j.1399-0004.1984.tb02013.x

Geerts M, Steyaert J, Fryns JP The XYY syndrome: a follow-up study on 38 boys, Genet Couns, vol. 14, no. 3, pp. 267 – 79, 2003. [Online]. Available: https://www.ncbi.nlm.nih.gov/pubmed/14577671

Ratcliffe S (Feb 1999) Long-term outcome in children of sex chromosome abnormalities. Arch Dis Child 80(2):192–195. https://doi.org/10.1136/adc.80.2.192

Ratcliffe SG, Tierney I, Nshaho J, Smith L, Springbett A, Callan S (1982) The Edinburgh study of growth and development of children with sex chromosome abnormalities, Birth Defects Orig Artic Ser, vol. 18, no. 4, pp. 41–60, [Online]. Available: https://www.ncbi.nlm.nih.gov/pubmed/7159722

Alexander GE, DeLong MR, Strick PL (1986) Parallel organization of functionally segregated circuits linking basal ganglia and cortex. Annu Rev Neurosci 9:357–381. https://doi.org/10.1146/annurev.ne.09.030186.002041

Article  CAS  PubMed  Google Scholar 

Bender BG, Harmon RJ, Linden MG, Robinson A (1995) Psychosocial adaptation of 39 adolescents with sex chromosome abnormalities, Pediatrics, vol. 96, no. 2 Pt 1, pp. 302-8, Aug [Online]. Available: https://www.ncbi.nlm.nih.gov/pubmed/7630689

Mandoki MW, Sumner GS, Hoffman RP, Riconda DL (1991) A review of Klinefelter’s syndrome in children and adolescents, J Am Acad Child Adolesc Psychiatry, vol. 30, no. 2, pp. 167 – 72, Mar https://doi.org/10.1097/00004583-199103000-00001

Neufang S et al (2009) Sex differences and the impact of steroid hormones on the developing human brain, Cereb Cortex, vol. 19, no. 2, pp. 464 – 73, Feb https://doi.org/10.1093/cercor/bhn100

Peper JS et al (Jul 2009) Heritability of regional and global brain structure at the onset of puberty: a magnetic resonance imaging study in 9-year-old twin pairs. Hum Brain Mapp 30(7):2184–2196. https://doi.org/10.1002/hbm.20660

Bramen JE et al (2011) Puberty influences medial temporal lobe and cortical gray matter maturation differently in boys than girls matched for sexual maturity, Cereb Cortex, vol. 21, no. 3, pp. 636 – 46, Mar https://doi.org/10.1093/cercor/bhq137

Marek S et al (Mar 2022) Reproducible brain-wide association studies require thousands of individuals. Nature 603(7902):654–660. https://doi.org/10.1038/s41586-022-04492-9

Rohayem J, Nieschlag E, Zitzmann M, Kliesch S (2016) Testicular function during puberty and young adulthood in patients with Klinefelter’s syndrome with and without spermatozoa in seminal fluid, Andrology, vol. 4, no. 6, pp. 1178–1186, Nov https://doi.org/10.1111/andr.12249