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Monday, July 9 • 15:00 - 15:15
Session 1 | Fetal Therapy: 1-1 The combinative effect of testosterone treatment and the timing of diagnosis on neurocognitive abilities and ADHD in 47,XXY (Klinefelter Syndrome)

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The combinative effect of testosterone treatment and the timing of diagnosis on neurocognitive abilities and ADHD in 47,XXY (Klinefelter Syndrome)
Carole Samango-Sprouse1, Patricia Lasutschinkow2, Selena Chea2, Teresa Sadeghin3, Andrea Gropman4

1George Washington University School of Medicine and Health Sciences, Washington, D.C., United States
2The Focus Foundation, Crofton, MD, United States
3The Focus Foundation, Davidsonville, MD, United States
4Children's National Medical Center, D.C., United States
47,XXY (KS) is the most frequently occurring X & Y chromosomal disorder (1:660). These boys may exhibit motor planning deficits and delays, language-based learning disabilities (LLD), ADHD, and executive dysfunction. Testosterone replacement has been shown to mitigate some neurodevelopmental differences. Few studies have documented the possible beneficial combinative effect of prenatal diagnosis and testosterone treatment on intellectual capabilities and behavior.
288 males with 47,XXY were evaluated using the Child Behavior Checklist (CBCL), Weschler Intelligence Scale for Children (WISC), and the Leiter International Performance Scale (LIPS). 78.5% were prenatally diagnosed with the remainder diagnosed postnatally. 71.5% received some type of testosterone treatment and 28.5% received none. Treatment included early hormonal treatment (E) before five years, hormonal booster treatment (B) between 5 and 10 years, testosterone treatment after 10 years (T), and combinations of the three. Treatment was based on the patient’s pediatric endocrinologist’s assessment of the size of phallus in comparison to neurotypical boys of the same age.
Boys who received both E+B had significantly reduced ADHD symptoms on the CBCL in comparison to boys with B (P=0.007). Treated, prenatally diagnosed boys performed better than treated postnatally diagnosed in PIQ (P=0.038)&PSI (P=0.002). Boys with prenatal diagnosis and treated with any testosterone performed significantly better in VIQ (P=0.005), PRI (P=0.003), PSI (P=0.023), and WMI (P=0.001) than untreated boys. Prenatal boys who received E+B+T did significantly better than untreated boys with prenatal diagnosis (P=0.012) on VIQ&PRI on the WISC. On the LIPS, boys who received E+B+T performed significantly better when compared to untreated boys (P=0.020) and boys with some but not all testosterone treatment (P=0.019).
This study has further expanded our knowledge of the positive impact of testosterone treatment on the neurodevelopmental outcome of boys with 47,XXY and suggests that receiving multiple testosterone treatments (E+B+T) results in the most positive outcome. For the first time, a combinative effect of hormonal treatment and diagnosis suggests that boys with 47,XXY may need treatment at several life stages to optimizes neurodevelopmental outcome. Further exploration of the most advantageous timing and dosage for boys with 47,XXY is warranted. Additional study is required to investigate the relationship between repeated treatments of testosterone during childhood and maximum neurodevelopmental outcome.

avatar for Anna David

Anna David

Director, Elizabeth Garrett Anderson Institute for Women's Health at University College London
Anna David is Director of the Elizabeth Garrett Anderson Institute for Women’s Health at University College London in London. She is also Professor and Honorary Consultant in Obstetrics and Maternal Fetal Medicine at UCL Hospital. Her clinical practice specializes in fetal medicine... Read More →
avatar for Roland Devlieger

Roland Devlieger

Professor, University Hospitals Leuven

avatar for Carole Samango-Sprouse

Carole Samango-Sprouse

Associate Clinical Professor, Department of Pediatrics at George Washington University, Washington, D.C.

Monday July 9, 2018 15:00 - 15:15 CEST
Okapi Room 2&3