Judith L. Ross, MD, MD

Endocrinologist and clinical researcher

Nemours Children's Hospital, Delaware 1600 Rockland Road Wilmington, DE 19803

Biography

My research goals have been to dissect the clinical, genetic, and neurobiological pathways related to X and Y chromosome disorders including Klinefelter syndrome (47,XXY), XYY syndrome, and Turner syndrome. For the male X-chromosome disorder, Klinefelter syndrome, I successfully initiated and completed a recent NINDS-funded clinical trial investigating the effects of early androgen replacement on motor function, cognition, and brain imaging. The results of this study will provide significant evidence-based recommendations about childhood androgen replacement in boys with testicular failure and prevention of obesity and cardiovascular morbidities in this at risk population. In boys with XYY, we hypothesized that the increased autism risk is related to increased Y chromosome gene copy number and over-expression of Y-linked genes related to brain development and function.

Fellowship

  • Developmental Endocrinology - National Institutes of Health, 1983

Internship Residency

  • Pediatrics - Children's Hospital of Pittsburgh, 1980

Medical/Dental School

  • BA - Wellesley College, Molecular Biology, 1972
  • MD - University of Chicago Pritzker School of Medicine, Medicine, 1977

Board Certifications

  • American Board of Pediatrics/General Pediatrics
  • American Board of Pediatrics/Endocrinology

  • Diabetes
  • Endocrinology
  • Genetics
  • Pediatrics

  • Knight, L., Pahud, B. A., Scheffler, M., Euteneuer, J. C., Allen, C., Ross, J., & the Environmental Influences on Child Health Outcomes (ECHO) Institutional Development Award (IDeA) States Pediatric Clinical Trials Network. (2022). Capacity Building in a New Clinical Trials Network through Inter-Network Collaboration. Journal of Pediatrics, 240, 5-8. doi:10.1016/j.jpeds.2021.04.062

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  • Knight, L., Pahud, B. A., Scheffler, M., Euteneuer, J. C., Allen, C., Ross, J., & the Environmental Influences on Child Health Outcomes (ECHO) Institutional Development Award (IDeA) States Pediatric Clinical Trials Network. (2022). Capacity Building in a New Clinical Trials Network through Inter-Network Collaboration. Journal of Pediatrics, 240, 5-8. doi:10.1016/j.jpeds.2021.04.062

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  • Savendahl, L., Polak, M., Backeljauw, P., Blair, J. C., Miller, B. S., Rohrer, T. R., & Ross, J. (2021). Long-Term Safety of Growth Hormone Treatment in Childhood: Two Large Observational Studies: NordiNet IOS and ANSWER. Journal of Clinical Endocrinology and Metabolism, 106(6), 1728-1741. doi:10.1210/clinem/dgab080

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  • Merhar, S. L., Ounpraseuth, S., Devlin, L. A., Poindexter, B. B., Young, L. W., Berkey, S. D., & the Eunice Kennedy Shriver National Institute of Child Health and Human Development Neonatal Research Network and the NIH Environmental Influences on Child Health Outcomes (ECHO) Program Institutional Development Awards States Pediatric Clinical Trials Network. (2021). Phenobarbital and clonidine as secondary medications for neonatal opioid withdrawal syndrome. Pediatrics, 147(3). doi:10.1542/PEDS.2020-017830

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  • Aksglaede, L., Davis, S., Ross, J. L., & Juul, A. (2021). Congenital Causes of Hypergonadotropic Hypogonadism: Anorchia and Klinefelter Syndrome. In Trends in Andrology and Sexual Medicine (bll 127-145). doi:10.1007/978-3-030-80015-4_8

  • Roberts, T. P. L., Bloy, L., Miller, J. S., Blaskey, L., & Ross, J. (2021). Decreased levels of y-aminobutyric acid in temporal lobe of children with 47,XYY syndrome. NeuroReport, 541-547. doi:10.1097/WNR.0000000000001628

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  • Chen, D., Strang, J. F., Kolbuck, V. D., Rosenthal, S. M., Wallen, K., Waber, D. P., & Garofalo, R. (2020). Consensus Parameter: Research Methodologies to Evaluate Neurodevelopmental Effects of Pubertal Suppression in Transgender Youth. Transgender Health, 5(4), 246-257. doi:10.1089/trgh.2020.0006

  • Annett, R. D., Chervinskiy, S., Chun, T. H., Cowan, K., Foster, K., Goodrich, N., & Atz, A. M. (2020). IDeA States Pediatric Clinical Trials Network for Underserved and Rural Communities. Pediatrics, 146(4). doi:10.1542/peds.2020-0290

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  • Davis, S. M., Bloy, L., Roberts, T. P. L., Kowal, K., Alston, A., Tahsin, A., & Ross, J. L. (2020). Testicular function in boys with 47,XYY and relationship to phenotype. American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, 184(2), 371-385. doi:10.1002/ajmg.c.31790

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  • Tartaglia, N., Howell, S., Davis, S., Kowal, K., Tanda, T., Brown, M., & Ross, J. (2020). Early neurodevelopmental and medical profile in children with sex chromosome trisomies: Background for the prospective eXtraordinarY babies study to identify early risk factors and targets for intervention. American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, 184(2), 428-443. doi:10.1002/ajmg.c.31807

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  • Aksglaede, L., Davis, S. M., Ross, J. L., & Juul, A. (2020). Minipuberty in Klinefelter syndrome: Current status and future directions. American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, 184(2), 320-326. doi:10.1002/ajmg.c.31794

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  • Bizzell, E., Ross, J., Rosenthal, C., Dumont, R., & Schaaf, R. (2020). Sensory Features as a Marker of Autism Spectrum Disorders. Journal of Autism and Developmental Disorders, 50(6), 2240-2246. doi:10.1007/s10803-019-03948-8

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  • Mauras, N., Torres-Santiago, L., Santen, R., Mericq, V., Ross, J., Colon-Otero, G., & Blair, I. A. (2019). Impact of route of administration on genotoxic oestrogens concentrations using oral vs transdermal oestradiol in girls with Turner syndrome. Clinical Endocrinology, 90(1), 155-161. doi:10.1111/cen.13869

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  • Conradt, E., Flannery, T., Aschner, J. L., Annett, R. D., Croen, L. A., Duarte, C. S., & Lester, B. M. (2019). Prenatal opioid exposure: Neurodevelopmental consequences and future research priorities. Pediatrics, 144(3). doi:10.1542/peds.2019-0128

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  • Bloemeke, J., Balacano Valdez, R., Mauras, N., Mericq, V., Ross, J., Permuy, J., & Bullinger, M. (2019). Psychometric performance of the Quality of Life in Short Stature Youth (QoLISSY) questionnaire in a randomized open-label comparator trial in idiopathic short stature. Journal of Pediatric Endocrinology and Metabolism. doi:10.1515/jpem-2019-0137

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  • Foland-Ross, L. C., Ross, J. L., & Reiss, A. L. (2019). Androgen treatment effects on hippocampus structure in boys with Klinefelter syndrome. Psychoneuroendocrinology, 100, 223-228. doi:10.1016/j.psyneuen.2018.09.039

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  • Bullinger, M., Bloemeke, J., Mericq, V., Sommer, R., Gaete, X., Ross, J. L., & Mauras, N. (2019). Quality of Life in Adolescent Boys with Idiopathic Short Stature: Positive Impact of Growth Hormone and Aromatase Inhibitors. Hormone Research in Paediatrics, 90(6), 381-392. doi:10.1159/000496353

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  • Bloy, L., Ku, M., Edgar, J. C., Miller, J. S., Blaskey, L., Ross, J., & Roberts, T. P. L. (2019). Auditory evoked response delays in children with 47,XYY syndrome. NeuroReport, 30(7), 504-509. doi:10.1097/WNR.0000000000001233

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  • Matsuzaki, J., Bloy, L., Blaskey, L., Miller, J., Kuschner, E. S., Ku, M., & Roberts, T. P. L. (2019). Abnormal Auditory Mismatch Fields in Children and Adolescents with 47,XYY Syndrome. Developmental Neuroscience, 41(1-2), 123-131. doi:10.1159/000500799

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  • Savendahl, L., Polak, M., Backeljauw, P., Blair, J., Miller, B. S., Rohrer, T. R., & Ross, J. (2019). Treatment of Children with GH in the United States and Europe: Long-Term Follow-Up from NordiNet(R) IOS and ANSWER Program. Journal of Clinical Endocrinology and Metabolism, 104(10), 4730-4742. doi:10.1210/jc.2019-00775

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  • Davis, S. M., Lahlou, N., Cox-Martin, M., Kowal, K., Zeitler, P. S., & Ross, J. L. (2018). Oxandrolone Treatment Results in an Increased Risk of Gonadarche in Prepubertal Boys with Klinefelter Syndrome. Journal of Clinical Endocrinology and Metabolism, 103(9), 3449-3455. doi:10.1210/jc.2018-00682

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  • Rapaport, R., Lee, P. A., Ross, J. L., Saenger, P., Ostrow, V., & Piccoli, G. (2018). Three years of growth hormone therapy in children born small for gestational age: Results from the answer program. Endocrine Connections, 7(10), 1096-1104. doi:10.1530/EC-18-0286

  • Benabbad, I., Rosilio, M., Child, C. J., Carel, J.-C., Ross, J. L., Deal, C. L., & Blum, W. F. (2017). Safety Outcomes and Near-Adult Height Gain of Growth Hormone-Treated Children with SHOX Deficiency: Data from an Observational Study and a Clinical Trial. Hormone Research in Paediatrics, 87(1), 42-50. doi:10.1159/000452973

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  • Davis, S. M., Cox-Martin, M. G., Bardsley, M. Z., Kowal, K., Zeitler, P. S., & Ross, J. L. (2017). Effects of oxandrolone on cardiometabolic health in boys with klinefelter syndrome: A randomized controlled trial. Journal of Clinical Endocrinology and Metabolism, 102(1), 176-184. doi:10.1210/jc.2016-2904

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  • Ross, J. L., Kushner, H., Kowal, K., Bardsley, M., Davis, S., Reiss, A. L., & Roeltgen, D. (2017). Androgen Treatment Effects on Motor Function, Cognition, and Behavior in Boys with Klinefelter Syndrome. Journal of Pediatrics, 185, 193-199.e4. doi:10.1016/j.jpeds.2017.02.036

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  • Gravholt, C. H., Andersen, N. H., Conway, G. S., Dekkers, O. M., Geffner, M. E., Klein, K. O., & On behalf of the International Turner Syndrome Consensus Group. (2017). Clinical practice guidelines for the care of girls and women with Turner syndrome: Proceedings from the 2016 Cincinnati International Turner Syndrome Meeting. European Journal of Endocrinology, 177(3), G1-G70. doi:10.1530/EJE-17-0430

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  • Pierce, J. S., Aroian, K., Caldwell, C., Ross, J. L., Lee, J. M., Schifano, E., & Wysocki, T. (2017). The ups and downs of parenting young children with type 1 diabetes: A crowdsourcing study. Journal of Pediatric Psychology, 42(8), 846-860. doi:10.1093/jpepsy/jsx056

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  • Wysocki, T., Hirschfeld, F., Miller, L., Izenberg, N., Dowshen, S. A., Taylor, A., & Lawson, M. L. (2016). Consideration of Insulin Pumps or Continuous Glucose Monitors by Adolescents With Type 1 Diabetes and Their Parents: Stakeholder Engagement in the Design of Web-Based Decision Aids. Diabetes Educator, 42(4), 395-407. doi:10.1177/0145721716647492

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  • Davis, S., Howell, S., Wilson, R., Tanda, T., Ross, J., Zeitler, P., & Tartaglia, N. (2016). Advances in the Interdisciplinary Care of Children with Klinefelter Syndrome. In Advances in Pediatrics (Vol 63, bll 15-46). doi:10.1016/j.yapd.2016.04.020

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  • Davis, S., Lahlou, N., Bardsley, M., Temple, M.-C., Kowal, K., Pyle, L., & Ross, J. (2016). Gonadal function is associated with cardiometabolic health in pre-pubertal boys with Klinefelter syndrome. Andrology, 4(6), 1169-1177. doi:10.1111/andr.12275

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  • Mauras, N., Ross, J. L., Gagliardi, P., Yu, Y. M., Hossain, J., Permuy, J., & Mericq, V. (2016). Randomized trial of aromatase inhibitors, growth hormone, or combination in pubertal boys with idiopathic, short stature. Journal of Clinical Endocrinology and Metabolism, 101(12), 4984-4993. doi:10.1210/jc.2016-2891

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  • Ross, J. L., Lee, P. A., Gut, R., & Germak, J. (2015). Attaining genetic height potential: Analysis of height outcomes from the ANSWER Program in children treated with growth hormone over 5 years. Growth Hormone and IGF Research, 25(6), 286-293. doi:10.1016/j.ghir.2015.08.006

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  • Davis, S. M., Rogol, A. D., & Ross, J. L. (2015). Testis Development and Fertility Potential in Boys with Klinefelter Syndrome. Endocrinology and Metabolism Clinics of North America, 44(4), 843-865. doi:10.1016/j.ecl.2015.07.008

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  • Bullinger, M., Sommer, R., Pleil, A., Mauras, N., Ross, J., Newfield, R., & Quitmann, J. (2015). Evaluation of the american-english quality of life in short stature youth (QoLISSY) questionnaire in the United States. Health and Quality of Life Outcomes, 13(1). doi:10.1186/s12955-015-0236-2

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  • Rosenfield, R. L., Dimeglio, L. A., Mauras, N., Ross, J., Shaw, N. D., Greeley, S. A. W., & Rhodes, E. T. (2015). Commentary: Launch of a quality improvement network for evidence-based management of uncommon pediatric endocrine disorders: Turner syndrome as a prototype. Journal of Clinical Endocrinology and Metabolism, 100(4), 1234-1236. doi:10.1210/jc.2014-3845

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  • Mcculloch, M. A., Mauras, N., Canas, J. A., Hossain, J., Sikes, K. M., Damaso, L. C., & Gidding, S. S. (2015). Magnetic resonance imaging measures of decreased aortic strain and distensibility are proportionate to insulin resistance in adolescents with type 1 diabetes mellitus. Pediatric Diabetes, 16(2), 90-97. doi:10.1111/pedi.12241

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  • Canas, J. A., Ross, J. L., Taboada, M. V., Sikes, K. M., Damaso, L. C., Hossain, J., & Mauras, N. (2015). A randomized, double blind, placebo-controlled pilot trial of the safety and efficacy of atorvastatin in children with elevated low-density lipoprotein cholesterol (LDL-C) and type 1 diabetes. Pediatric Diabetes, 16(2), 79-89. doi:10.1111/pedi.12245

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  • Ross, J. L., Tartaglia, N., Merry, D. E., Dalva, M., & Zinn, A. R. (2015). Behavioral phenotypes in males with XYY and possible role of increased NLGN4Y expression in autism features. Genes, Brain and Behavior, 14(2), 137-144. doi:10.1111/gbb.12200

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