The Focus Foundation fosters innovative, fast-paced, safe and creative research. Our scientific studies have patient centered outcomes and often our parents prompt the studies through their questions and concerns. Our research articles are published in peer reviewed journals that are reputable, well-respected and responsible in their various disciplines. The Focus Foundation is firmly committed to highlighting the strengths and challenges of our children through sound scientific studies and exploring the potential impact of targeted and novel treatments. Results of these studies and utilized to promote targeted treatments, prompt recovery, and the well-being of our patients.
New Research - Dr. Carole Samango-Sprouse Shows the Incidence of 47, XXY is now 1 in 380
New Research Article - Dr. Carole Samango-Sprouse Shows the Incidence of 47, XXY is now 1 in 380
47, XXY (Klinefelter syndrome) is a chromosomal disorder that has a diagnosis rate of less than 25% in which a male is born with 47 chromosomes instead of 46 XY. This was once thought to affect 1 in 650 live male births. Now, based on the recent research study completed by Dr.Samango-Sprouse and her colleagues in Ultrasound in Obstetrics & Gynecology – Wiley Online Library, 47, XXY has been found to have an instance of potentially 1 in 380, making it nearly two times more prevalent than Down Syndrome, which was thought to be the most common chromosomal disorder.
The full article is available to read for free online here: Incidence of sex chromosome aneuploidy in Northern Italy: 27‐year longitudinal study – Samango‐Sprouse – Ultrasound in Obstetrics & Gynecology – Wiley Online Library
View the full article PDF here.
X & Y Chromosomal Variations (Publication)
Now stocked in more than 200 medical institutions across the country, this popular book is now available in paperback!
… a wonderful review of the clinical knowledge associated with Karyoptypic abnormalities of the X and Y Chromosomes.
Luis Escobar, M.D., M.S.
A Wonderful Review
… there is no comparable book on the market.
Doody Enterprises, Inc
Nothing Compares
We suggest you consider offering a copy of this book to your team of physicians so they can more clearly understand your child’s diagnosis and today’s treatment options.
It is available to buy here. Even better, our XY families receive a 25% discount with the coupon code XYPARENT. (Also available on all major book sites, but discount code only valid through publisher.)
Published Books and Chapters
Title | Author | Journal (Year) |
---|---|---|
Chapter 35: 47,XXY (Klinefelter Syndrome) and related X and Y Chromosomal Conditions. Management of Genetic Syndromes. 4th Edition | Samango-Sprouse, C.; Graham, J.; Swerdloff, R.; Visootsak, J. Eds. Cassidy, S.B.; Allanson, J.E. | Wiley-Liss, 2020 |
Book: X and Y Chromosomal Variations: Hormones, Brain Development, and Neurodevelopmental Performance | Samango-Sprouse, C.; Gropman, A. | The Colloquium Digital Library of Life Sciences. October 11, 2016 |
Chapter: “Frontal Lobe Development in Childhood”, The Human Frontal Lobe: Functions and Disorders, 2nd Edition | Samango-Sprouse, C. Eds. Miller, BL and Cummings, JL | Guilford Press, New York, 2007 |
Published Peer-reviewed Articles
Title | Author | Journal (Year) |
---|---|---|
A Comprehensive Investigation of the Anthropometric Measurements in Males with 47,XXY (Klinefelter Syndrome) and the Impact of Early Hormonal Treatment (EHT) | Kara Schmidt; Andrea Gropman; Teresa Sadeghin; Toreh Alysandra Jackson; Carol Samango-Sprouse | Accepted February 26, 2024 to special issue: Genetic Neurodevelopmental Diseases |
The human Y and inactive X chromosomes similarly modulate autosomal gene expression | San Roman, A., Skaletsky, H. Godfrey, A…Samango-Sprouse, C, Muenke, M., Page, C. | Cell Genomics December, 2023, Open access: https://doi.org/10.1016/j.xgen.2023.100462 |
The Behavioral Profile of 49,XXXXY and the Potential Impact of Testosterone Replacement Therapy (TRT) | Samango-Sprouse CA, Hamzik MP, Gropman E, Brooks MR, Powell S, Taylor AM, Sadeghin T, Gropman AL, | Genetics in Medicine (2023), doi: https://doi.org/10.1016/j.gim.2023.100847. |
Reading skills in males with 47,XXY: Risk factors and the influence of hormonal replacement therapy (HRT) | Brooks, Michaela , Andrea L Gropman, Mary P Hamzik, Kosar Khaksari, Sherida Powell, Teresa Sadeghin, Alexa M Taylor, Carole Samango-Sprouse | Genet Med. 2023 Aug;25(8):100864. doi:10.1016/j.gim.2023.100864. Epub 2023 Apr 28. |
The Effect of Hormonal Therapy on the Behavioral Outcomes in 47,XXY (Klinefelter Syndrome) between 7 and 12 Years of Age. | Hamzik, M.P.; Gropman, A.L.; Brooks, M.R.; Powell, S.; Sadeghin, T.; Samango Sprouse, C.A. | Genes 2023, 14, 1402. https://doi.org/10.3390/genes14071402. |
Incidence of sex chromosome aneuploidy in Northern Italy: 27-year longitudinal study. | Samango-Sprouse C.A., F. R. Grati, M. Brooks, M. P. Hamzik, K. Khaksari, A. Gropman, A. Taylor, F. Malvestiti, B. Grimi, R. Liuti, S. Milani, S. Chinetti, A. Trotta, C. Agrati, E. Repetti, K. A. Martin. | Published in Ultrasound in Obstetrics & Gynecology. 17 March 2023 https://doi.org/10.1002/uog.26201 |
The Behavioral Profile of 49,XXXXY and the Potential Impact of Testosterone Replacement Therapy (TRT), | Samango-Sprouse CA, Hamzik MP, Gropman E, Brooks MR, Powell S, Taylor AM, Sadeghin T, Gropman AL, | Genetics in Medicine (2023), doi: https://doi.org/10.1016/j.gim.2023.100847. |
Novel Neurocognitive Profile in a Minority of Boys with 47,XXY (Klinefelter Syndrome) | Samango-Sprouse, EdD, Carole A., Mary P. Hamzik, BS, Kosar Khaksari, PhD, Michaela R. Brooks, BA, Teresa Sadeghin, MSEd, Andrea L. Gropman, MD. | J Dev Behav Pediatr 00:1–6, 2022 |
A longitudinal perspective of hormone replacement therapies (HRTs) on neuromotor capabilities in males with 47,XXY (Klinefelter syndrome) | Samango-Sprouse, Carole. Michaela Reiko Brooks, Debra Counts, Mary Pat Hamzik, Sophia Song, Sherida Powell, Teresa Sadeghin, Andrea L. Gropman. | Genetics in Medicine. March, 2022. doi: https://doi.org/10.1016/j.gim.2022.03.004 1098-3600 |
An exploration of the impact of Hormonal Replacement Therapy (HRT) upon vocabulary skills in males with 49,XXXXY. | Hamzik, Mary, Andrea Gropman, Teresa Sadeghin, Carole Samango-Sprouse. | https//doi.org/10.1016/j.gim.2022.01.172 Abstract only Volume 24, issue 3, supplement, S84, March 01, 2022 ACMG Genetics in Medicine |
A longitudinal perspective of hormone replacement therapies (HRTs) on neuromotor capabilities in males with 47,XXY (Klinefelter syndrome) | Samango-Sprouse, C.A., Brooks, M.R., Counts, D., Hamzik, M.P., Song, S.Q., Powell, S., Sadeghin, T., Gropman, A.L. | Frontiers in Genetics, 2022, section Genetics of Common and Rare Diseases. Manuscript ID: 808006 |
Case Report: A Case Study on the Neurodevelopmental Profile of a Child With Pallister–Killian Syndrome and His Unaffected Twin | Samango-Sprouse CA, Hamzik MP, Rosenbaum K, Khaksari K, Mitchell F, Kommareddi R, Brooks MR, Tipton E, Sadeghin T and Gropman AL | Frontiers in Pediatrics 15 March 2022 10:817133. doi: 10.3389/fped.2022.817133 |
Case Report: Infant with Congenital Adrenal Hyperplasia and 47,XXY (Klinefelter syndrome) | Song, S Q, A Gropman, R Benjamin, F Mitchell, M Brooks, MP Hamzik, K Sampson, R Kommareddi, T Sadeghin, Carole Samango-Sprouse | Frontiers in Genetics, 2022, section Genetics of Common and Rare Diseases. Manuscript ID: 808006 |
A gene-by-gene mosaic of dosage compensation strategies on the human X chromosome. | San Roman, Adrianna K. …et al. Carole Samango-Sprouse, Maximilian Muenke, and David C. Page. | bioRxiv preprint doi: https://doi.org/10.1101/2021.08.09.455676; version posted August 9, 2021. |
The effect of early hormonal treatment (EHT) on expressive and receptive language capabilities in boys with 47,XXY (Klinefelter syndrome) during infancy and early childhood. | Samango-Sprouse, C; Brooks, MR.; Lasutchinkow, P; Sadeghin, T; Powell, S; Hamzik, MP; Song, Sa; and Gropman, AL. | Genetics in Medicine. Published online 24 February 2021. https://doi.org/10.1038/s41436-021-01098-w |
Klinefelter Syndrome and Turner Syndrome, in Brief. | Samango-Sprouse C, S. Song, A. Lin, C. Powell, A. Gropman. | Pediatrics in Review 2021;42;272 DOI: 10.1542/pir.2020-004028 |
Correspondence: Insight versus hindsight: What we have learned after 17 years of research with sex chromosome abnormalities. | Samango-Sprouse, C., Counts, D., Gropman, A. | Am J Med Genet. 2021;185A:1004–1005. |
Detection of maternal X chromosome abnormalities using single nucleotide polymorphism based noninvasive prenatal testing | Martin KA, Samango-Sprouse CA, Kantor V, et al. | American Journal of Obstetrics and Gynecology 2020 |
Speech and Language Development in children with 49,XXXXY syndrome | Samango-Sprouse CA, Lasutschinkow PC, McLeod M, et al. | American Journal of Medical Genetics: Part A June 2020 |
Neurodevelopmental outcome of prenatally diagnosed boys with 47,XXY (Klinefelter syndrome) and the potential influence of early hormonal therapy | Samango-Sprouse CA, Tran SL, Lasutschinkow PC, et al. | American Journal of Medical Genetics: Part A. July 2020 |
Evidence of intrauterine growth restriction and growth hormone deficiency in 49,XXXXY syndrome | Counts DR, Yu C, Lasutschinkow PC, Sadeghin T, Gropman A, Samango-Sprouse CA | American Journal of Medical Genetics: Part A 2020 |
Behavioral Phenotype of 49,XXXXY Syndrome: Presence of Anxiety-Related Symptoms and Intact Social Awareness | Lasutschinkow, P.C., Gropman, A., Sadeghin, T., & Samango-Sprouse, C. | American Journal of Medical Genetics: 2020 |
49,XXXXY syndrome: A study of neurological function in this uncommon X and Y chromosomal disorder | Samango-Sprouse, C.; Lasutschinkow, P. C.; Mitchell, F.; Porter, G.; Hendrie, P.; Powell, S.; Sadeghin, T.; Gropman, A | American Journal of Medical Genetics: Part A 2020 |
Musculoskeletal abnormalities in a large international cohort of boys with 49,XXXXY | Tosi L, Mitchell F, Porter GF, et al. | American Journal of Medical Genetics: Part A 2020 |
A Review of the Intriguing Interaction Between Testosterone and Neurocognitive Development in males with 47,XXY | Samango-Sprouse, C., Yu, C., Porter, G., Tipton, L., Lasutschinkow, P., Sadeghin, T | Current Opinion in Obstetrics and Gynecology Volume 32, Number 2, April 2020. |
Neurodevelopmental Outcome of Prenatally Diagnosed Boys with 47,XXY (Klinefelter syndrome) and the Potential Influence of Early Hormonal Therapy (EHT) | Samango-Sprouse, C.A., Tran, S., Lasutschinkow, P.C., Sadeghin. T., Powell, S., Mitchell, F., and Gropman, A. | The American Journal of Medical Genetics: Part A. 2020 |
A Review of the Intriguing Interaction Between Testosterone and Neurocognitive Development in males with 47,XXY | Samango-Sprouse, C., Yu, C., Porter, G., Tipton, L., Lasutschinkow, P., Sadeghin, T. | Current Opinion in Obstetrics and Gynecology. 2020 |
Investigating the impact of early diagnosis and noninvasive prenatal testing (NIPT): Knowledge, attitudes, and experiences of parents of children with sex chromosome aneuploidies (SCAs) | Samango-Sprouse, C., Porter, G., Lasutschinkow, P., Tran, S, Sadeghin, T., Gropman, A. | Prenatal Diagnosis. 2019 |
Update on the clinical perspectives and care of the child with 47,XXY (Klinefelter syndrome) | Samango-Sprouse, C.A., Counts, D.R., Tran, S.L., Lasutschinkow, P.C., Porter, G.F., Gropman, A.L. | The Application of Clinical Genetics. 2019 |
Hormonal replacement therapy (HRT) and its potential influence on working memory (WM) and competency/adaptive functioning (CAF) in 47,XY (Klinefelter syndrome). | Tran, S., Samango-Sprouse, C., Sadeghin, T., Powell, S., Gropman, A. | American Journal of Medical Genetics Pt A. 2019 |
The incidence of anxiety symptoms in boys with 47,XXY (Klinefelter syndrome) and the possible impact of timing of diagnosis and hormonal replacement therapy | Samango-Sprouse, C., Lasutschinkow, P., Powell, S., Sadeghin, T. & Gropman, A. | Am J of Med Genet Part A (2019) |
International Investigation of Neurocognitive and Behavioral Phenotype in 47, XXY (Klinefelter syndrome): Predicting Individual Differences | Samango-Sprouse, C., Stapleton, E.J., Chea, S., et al. | Am J Med Genet Part A (2018) |
The Benefits and Limitations of cell-free DNA screening for 47, XXY (Klinefelter syndrome) | Samango-Sprouse, C. | Prenatal Diagnosis (2017) |
10-year-old Female with Intragenic KANSL1 Mutation, no KANSL1-related Intellectual Disability, and Preserved Verbal Intelligence | Keen, C. Samango-Sprouse, C. Dubbs, H. Zackai, E. | Am J Med Genet Part A (2017) |
X & Y chromosomal variations : hormones, brain development, and neurodevelopmental performance | Samango-Sprouse, C., & Gropman, A. L | Morgan & Claypool Publishers (2017 |
Incidence of X and Y Chromosomal Aneuploidy in a Large Child Bearing Population. | Samango-Sprouse, C; Hall, MP; Kırkızlar, E; Curnow, K; Demko, Z; Lawson, P; Gross,S; Gropman, A. | Public Library of Science (2016) |
Expanding the Phenotypic Profile of Kleefstra Syndrome: A Female with Normal Intelligence and Childhood Apraxia of Speech | Samango-Sprouse, Carole ; Lawson, P; Sprouse, C; Stapleton, E; Sadeghin, T; Gropman, A | Am J Med Genet Part A. (2016) |
Neurodevelopmental variability in three young girls with a rare chromosomal disorder, 48, XXXX | Samango-Sprouse C, Keen C, Mitchell F, Sadeghin T, Gropman A | Am J Med Genet Part A (2015) |
Positive effects of early androgen therapy on the behavioral phenotype of boys with 47,XXY. | Samango-Sprouse, C., Stapleton, E. J., Lawson, P., Mitchell, F., Sadeghin, T., Powell, S., & Gropman, A. L. (2015) | Am J Med Genet C Semin Med Genet (2015) |
Early Identification of Infants and Toddlers At Risk for Autism Spectrum Disorder (ASD) and Developmental Language Disorder (DLD) | Samango-Sprouse, C. A., Stapleton, E., Aliabadi, F., Graw, R., Vickers, R., Haskell, K., Sadeghin, T., Jameson, R., Parmele, C. L., Gropman, A. L | Autism (2014) |
Positive Effects of Short Course Androgen Therapy on the Neurodevelopmental Outcome In Boys with 47, XXY Syndrome at 36 and 72 Months of Age | Samango-Sprouse CA, Sadeghin T, Mitchell FL, Dixon T, Stapleton E, Kingery M, Gropman AL | Am J Med Genet Part A (2014) |
Expanding the Phenotypic Profile of Boys with XXY – Is it all about the X? | Samango-Sprouse, C. A., Stapleton, E., Mitchell, F. L., Sadeghin, T., Donahue, T. P., Gropman, A. L. | Am J Med Genet Part A (2014) |
Neurocognitive variance and neurological underpinnings of the X and Y chromosomal variations | Gropman A, Samango-Sprouse CA | Am J Med Genet C Semin Med Genet (2013) |
Immunodeficiency in patients with 49,XXXXY chromosomal variation | Keller MD, Sadeghin T, Samango-Sprouse C, Orange JS | Am J Med Genet C Semin Med Genet (2013) |
SNP-based non-invasive prenatal testing detects sex chromosome aneuploidies with high accuracy | Samango-Sprouse C, Banjevic M, Ryan A, Sigurjonsson S, Zimmermann B, Hill M, Hall MP, Westemeyer M, Saucier J, Demko Z, Rabinowitz M. | Prenat Diagn (2013) |
Introduction: Past, present, and future care of individuals with XXY | Samango-Sprouse CA, Gropman AL | Am J Med Genet Part C Semin Med Genet (2013) |
Is it all the X: Familial learning dysfunction and the impact of behavioral aspects of the phenotypic presentation of XXY? | Samango-Sprouse CA, Stapleton E, Sadeghin T, Gropman AL | Am J Med Genet Part C Semin Med Genet (2013) |
Prenatal diagnosis and 47,XXY | Simpson JL, Samango-Sprouse C | Am J Med Genet C Semin Med Genet (2013) |
Musculoskeletal anomalies in a large cohort of boys with 49, XXXXY | Sprouse C, Tosi L, Stapleton E, Gropman AL, Mitchell FL, Peret R, Sadeghin T, Haskell K, Samango-Sprouse CA | Am J Med Genet C Semin Med Genet (2013) |
Expanding the phenotypic profile of boys with XXY – is it all about the X? | Samango-Sprouse CA, Stapleton EJ, Mitchell FL, Sadeghin T, Gropman AL. | J Intellect Disabil Res (2012) |
Early Effects of Short Course Androgen Therapy on Children with 49, XXXXY Syndrome on Neurodevelopmental Profile | Samango-Sprouse, CA; Gropman, A; Sadeghin, T; Kingery, M; Lutz-Armstrong, M; Rogol, A | Acta Pædiatrica (2011) |
Clinical variability and novel neurodevelopmental findings in 49, XXXXY syndrome | Gropman AL, Rogol A, Fennoy I, Sadeghin T, Sinn S, Jameson R, Mitchell F, Clabaugh J, Lutz-Armstrong M, Samango-Sprouse CA | Am J Med Genet Part A (2010) |
Expansion of the phenotypic profile of the young child with XXY | Samango-Sprouse, CA | Pediatr Endocrinol Rev (2010) |
Klinefelter Syndrome | Visootsak, Jeannie; Graham, John M., Samango-Sprouse, C., Swerdloff, R., Simpson, J.L | Management of Genetic Syndromes (2008) |
Effect of ascertainment and genetic features on the phenotype of Klinefelter syndrome | Zeger, M.P., Zinn, A.R., Lahou, N, Ramos, P, Kowal, K, Samango-Sprouse C., Ross J.L. | Journal of Pediatrics (2008) |
XXY (Klinefelter Syndrome): a Pediatric Quantitative Magnetic Resonance Imaging Study | Giedd, Jay N., Clasen, L.S., Wallace, G.L., Molloy, E.A., Blumenthal, J.D., Nelson, J.E., Tossell, J.W., Staver, C., Samango-Sprouse, C.A. | Pediatrics (2007) |
Frontal Lobe Development in Childhood | Samango-Sprouse, C.A | The Human Frontal Lobe: Functions and Disorders (2007) |
Puberty-related influences on brain development | Giedd, JN, Clasen, LS, Lenroot, R, Greenstein, D, Wallace GL, Ordaz, S, Molloy, EA, Blementhal, JD, Tossell, JW, Stayer, C, Samango-Sprouse, CA, Shen, D, Davatzikos, C, Merke, D, and Chrousos, G. | Molecular and Cellular Endocrinology (2006) |
Autism, Developmental Dyspraxia and Technology: A Window of Opportunity | Samango-Sprouse, Carole | The Neurological Resource Center Newsletter (2006) |
Early Androgen Deficiency in Infants and Young Boys with 47,XXY Klinefelter Syndrome | Ross, Judith L., Samango-Sprouse, C.A., Lahlou, N., Kowal, N., Elder, F.F. Andrew, Zinn, R | Hormone Research (2005) |
Klinefelter Syndrome | Simpson, J.L., Graham, J.M., Samango-Sprouse, C.A., Swerdloff, R | Management of Genetic Syndromes (2005) |
Androgen Receptor CAGn Repeat Length Influences Phenotype of 47XXY (Klinefelter) Syndrome | Zinn, A. R., Ramos, P., Elder, F.F., Kowal, K., Samango-Sprouse, C., Ross, J.L. | Journal of Clinical Endocrinology and Metabolism (2005) |
Outcome Measures for Clinical Drug Trials in Autism | Aman, M.G., Novotny, S., Samango-Sprouse C.A. et al. | CNS Spectrums (2004) |
Klinefelter Syndrome: Expanding the Phenotype and Identifying New Research Directions | Simpson, J.L., De la Cruz, F., Swerdloff, R., Samango-Sprouse, C.A., et al | Genetics in Medicine (2003) |
XXY: The Hidden Disability and Prototype for Infantile Presentation of Developmental Dyspraxia (IDD) | Samango-Sprouse, C.A., and Rogol, A | Infants and Young Children (2002) |
Further Characterization and Expansion and the Neurobehavioral Phenotype of Children with Sex Chromosome Variations. | Samango-Sprouse, C.A., Tsang, T. and Huddleston, J | The American Journal of Human Genetics (Abstract) (2002) |
47,XXY, 47,XXX and 47, XYY: Hidden disabilities within the Speech and Language Community | Aylstock, M. and Samango-Sprouse, C.A | CSHA Magazine (2002) |
A Genomewide Screen for Autism Suspectiblity Loci | Liu, J., Nyholt, D., Magnussen, P., Parano, E., Geschwind, D. et al | American Journal of Human Genetics (2001) |
The Neurocognitive Profile of the Young Child with XXY | Samango-Sprouse, C.A. | European Journal of Human Genetics (2001) |
The Mental Development in Polysomy X Klinefelter Syndrome (47 XXY; 48 XXXY): effects of Incomplete X-Activation | The Mental Development in Polysomy X Klinefelter Syndrome (47 XXY; 48 XXXY): effects of Incomplete X-Activation | Seminars of Reproductive Medicine (2001) |
MR Imaging of the Corpus Callosum in Pediatric Patients with Neurofibromatosis- Type 1 | Dubovsky, E.C. Booth, T.N., Vezina, G, Samango-Sprouse, C. Palmer, K.M. and Brasseux, C | American Journal of Neuroradiology (2001) |
Neurodevelopmental Evaluations of Newborns and Infants with Genetic Disorders | Samango-Sprouse, C.A. | Chromosome Deletion Outreach (2000) |
Neurodevelopmental and Neuroimaging Correlates in Nonsyndromal Microcephalic Children | Custer, D, Vezina, G, Vaught, D, Brasseux, C, Samango-Sprouse, CA, Cohen, M and Rosenbaum, K | Developmental and Behavioral Pediatrics (2000) |