My research interests include cardiometabolic health and gonadal function in infants, children and adolescents with X and Y chromosome variations, including Klinefelter and Turner syndromes.
Publications
Huang SD, Bamba V, Bothwell S, Fechner PY, Furniss A, Ikomi C, Nahata L, Nokoff NJ, Pyle L, Seyoum H, Davis SM. Development and validation of a computable phenotype for Turner syndrome utilizing electronic health records from a national pediatric network. Am J Med Genet A. 2023 Dec 8. [Epub ahead of print] PubMed PMID: 38066696
Pham TT, Davis SM, Tong S, Campa KA, Friedman NR, Gitomer SA. High Prevalence of Obstructive Sleep-Disordered Breathing in Pediatric Patients With Turner Syndrome. Otolaryngol Head Neck Surg. 2023 Nov 8. [Epub ahead of print] PubMed PMID: 37937707
Kanakatti Shankar R, Carl A, Law JR, Bamba V, Brickman WJ, Prakash SK, Dowlut McElroy T, Howell S, Gutmark Little I, Klein KO, Pinnaro CT, Ranallo K, Good M, Davis SM. Inspiring New Science to Guide Healthcare in Turner Syndrome: Rationale, design, and methods for the InsighTS Registry. Am J Med Genet A. 2023 Oct 12. [Epub ahead of print] PubMed PMID: 37827984
Stochholm K, Holmgård C, Davis SM, Gravholt CH, Berglund A. Incidence, prevalence, age at diagnosis, and mortality in individuals with 45,X/46,XY mosaicism: A population-based registry study. Genet Med. 2023 Sep 28;26(1):100987. [Epub ahead of print] PubMed PMID: 37781900
Thompson T, Tisher J, Davis S, Miller C, Kirk J, Tartaglia N, Howell S. The emotional journey of adapting to prenatally identified trisomy X. J Genet Couns. 2023 Sep 10. [Epub ahead of print] PubMed PMID: 37691399
Miller VA, Miller C, Davis SM, Nokoff NJ, Buchanan C, Friedrich EA, Carl A, Strine S, Vogiatzi MG. Information needs and health status in adolescents and young adults with differences of sex development or sex chromosome aneuploidies. J Pediatr Urol. 2023 Oct;19(5):586-595. PubMed PMID: 37308330
Davis SM, Urban R, D'Alessandro A, Reisz JA, Chan CL, Kelsey M, Howell S, Tartaglia N, Zeitler P, Baker Ii P. Unique plasma metabolite signature for adolescents with Klinefelter syndrome reveals altered fatty acid metabolism. Endocr Connect. 2023 May 1;12(5). PubMed PMID: 36884262
San Roman AK, Godfrey AK, Skaletsky H, Bellott DW, Groff AF, Harris HL, Blanton LV, Hughes JF, Brown L, Phou S, Buscetta A, Kruszka P, Banks N, Dutra A, Pak E, Lasutschinkow PC, Keen C, Davis SM, Tartaglia NR, Samango-Sprouse C, Muenke M, Page DC. The human inactive X chromosome modulates expression of the active X chromosome. Cell Genom. 2023 Feb 8;3(2):100259. PubMed PMID: 36819663
Davis SM, Teerlink C, Lynch JA, Gorman BR, Pagadala M, Liu A, Panizzon MS, Merritt VC, Genovese G, Pyarajan S, Ross JL, Hauger RL. Prevalence, Morbidity, and Mortality of 1,609 Men with Sex Chromosome Aneuploidy: Results from the Diverse Million Veteran Program Cohort. medRxiv. 2023 Jul 16. PubMed PMID: 37502926
Kremen J, Davis SM, Nahata L, Kapa HM, Dattilo TM, Liu E, Hutaff-Lee C, Tishelman AC, Crerand CE. Neuropsychological and mental health concerns in a multicenter clinical sample of youth with turner syndrome. Am J Med Genet A. 2023 Apr;191(4):962-976. PubMed PMID: 36608170
Howell S, Davis SM, Thompson T, Brown M, Tanda T, Kowal K, Alston A, Ross J, Tartaglia NR. Noninvasive prenatal screening (NIPS) results for participants of the eXtraordinarY babies study: Screening, counseling, diagnosis, and discordance. J Genet Couns. 2023 Feb;32(1):250-259. PubMed PMID: 36204975
Howell S, Davis SM, Thompson T, Brown M, Tanda T, Kowal K, Alston A, Ross J, Tartaglia NR. Noninvasive prenatal screening (NIPS) results for participants of the eXtraordinarY babies study: Screening, counseling, diagnosis, and discordance. J Genet Couns. 2022 Oct 6. [Epub ahead of print] PubMed PMID: 36204975
Valentine A, Davis S, Furniss A, Dowshen N, Kazak AE, Lewis C, Loeb DF, Nahata L, Pyle L, Schilling LM, Sequeira GM, Nokoff N. Multicenter Analysis of Cardiometabolic-related Diagnoses in Transgender and Gender-Diverse Youth: A PEDSnet Study. J Clin Endocrinol Metab. 2022 Sep 28;107(10):e4004-e4014. PubMed PMID: 35945152
Singh I, Noel G, Barker JM, Chatfield KC, Furniss A, Khanna AD, Nokoff NJ, Patel S, Pyle L, Nahata L, Cole FS, Ikomi C, Bamba V, Fechner PY, Davis SM. Hepatic abnormalities in youth with Turner syndrome. Liver Int. 2022 Oct;42(10):2237-2246. PubMed PMID: 35785515
Theroux CI, Elliott V, Davis S, Crerand CE, Kremen J, Tishelman A, Hutaff-Lee C, Nahata L. Fertility Counseling Practices for Patients with Turner Syndrome in Pediatric Endocrine Clinics: Results of a Pediatric Endocrine Society Survey. Horm Res Paediatr. 2022;95(4):321-330. PubMed PMID: 35413716
Auchus RJ, Sarafoglou K, Fechner PY, Vogiatzi MG, Imel EA, Davis SM, Giri N, Sturgeon J, Roberts E, Chan JL, Farber RH. Crinecerfont Lowers Elevated Hormone Markers in Adults With 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia. J Clin Endocrinol Metab. 2022 Feb 17;107(3):801-812. PubMed PMID: 34653252
Patel N, Klamer B, Davis S, Nahata L. Patient-parent perceptions of transition readiness in Turner syndrome and associated factors. Clin Endocrinol (Oxf). 2022 Feb;96(2):155-164. PubMed PMID: 34553783
Cung S, Pyle L, Nadeau K, Dabelea D, Cree-Green M, Davis SM. In-vivo skeletal muscle mitochondrial function in Klinefelter syndrome. J Investig Med. 2022 Jan;70(1):104-107. PubMed PMID: 34493629
Thompson T, Davis S, Janusz J, Frith E, Pyle L, Howell S, Boada R, Wilson R, Tartaglia N. Supporting students with sex chromosome aneuploidies in educational settings: Results of a nationwide survey. J Sch Psychol. 2022 Aug;93:28-40. PubMed PMID: 35934449
Dowlut-McElroy T, Davis S, Howell S, Gutmark-Little I, Bamba V, Prakash S, Patel S, Fadoju D, Vijayakanthi N, Haag M, Hennerich D, Dugoff L, Shankar RK. Cell-free DNA screening positive for monosomy X: clinical evaluation and management of suspected maternal or fetal Turner syndrome. Am J Obstet Gynecol. 2022 Dec;227(6):862-870. PubMed PMID: 35841934
Thompson T, Stinnett N, Tartaglia N, Davis S, Janusz J. 'I Wish the School Had a Better Understanding of the Diagnosis': parent perspectives on educational needs of students with sex chromosome aneuploidies. J Res Spec Educ Needs. 2022 Apr;22(2):175-187. PubMed PMID: 35529320
Davis SM, Nokoff NJ, Furniss A, Pyle L, Valentine A, Fechner P, Ikomi C, Magnusen B, Nahata L, Vogiatzi MG, Dempsey A. Population-based Assessment of Cardiometabolic-related Diagnoses in Youth With Klinefelter Syndrome: A PEDSnet Study. J Clin Endocrinol Metab. 2022 Apr 19;107(5):e1850-e1859. PubMed PMID: 35106546
Nunes-Moreno M, Buchanan C, Cole FS, Davis S, Dempsey A, Dowshen N, Furniss A, Kazak AE, Kerlek AJ, Margolis P, Pyle L, Razzaghi H, Reirden DH, Schwartz B, Sequeira GM, Nokoff NJ. Behavioral Health Diagnoses in Youth with Gender Dysphoria Compared with Controls: A PEDSnet Study. J Pediatr. 2022 Feb;241:147-153.e1. PubMed PMID: 34571022
Howell S, Buchanan C, Davis SM, Miyazawa H, Furuta GT, Tartaglia NR, Nguyen N. Eosinophilic esophagitis in individuals with sex chromosome aneuploidies: Clinical presentations and management implications. Mol Genet Genomic Med. 2021 Nov 5;:e1833. [Epub ahead of print] PubMed PMID: 34738344
Auchus RJ, Sarafoglou K, Fechner PY, Vogiatzi MG, Imel EA, Davis SM, Giri N, Sturgeon J, Roberts E, Chan JL, Farber RH. Crinecerfont Lowers Elevated Hormone Markers in Adults with 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia. J Clin Endocrinol Metab. 2021 Oct 15. [Epub ahead of print] PubMed PMID: 34653252
Nunes-Moreno M, Buchanan C, Cole FS, Davis S, Dempsey A, Dowshen N, Furniss A, Kazak AE, Kerlek AJ, Margolis P, Pyle L, Razzaghi H, Reirden DH, Schwartz B, Sequeira GM, Nokoff NJ. Behavioral Health Diagnoses in Youth with Gender Dysphoria Compared with Controls: A PEDSnet Study. J Pediatr. 2021 Sep 24. [Epub ahead of print] PubMed PMID: 34571022
Patel N, Klamer B, Davis S, Nahata L. Patient-parent perceptions of transition readiness in Turner syndrome and associated factors. Clin Endocrinol (Oxf). 2021 Sep 23. [Epub ahead of print] PubMed PMID: 34553783
Cung S, Pyle L, Nadeau K, Dabelea D, Cree-Green M, Davis SM. In-vivo skeletal muscle mitochondrial function in Klinefelter syndrome. J Investig Med. 2021 Sep 7. [Epub ahead of print] PubMed PMID: 34493629
Sewell R, Buchanan CL, Davis S, Christakis DA, Dempsey A, Furniss A, Kazak AE, Kerlek AJ, Magnusen B, Pajor NM, Pyle L, Pyle LC, Razzaghi H, Schwartz BI, Vogiatzi MG, Nokoff NJ. Behavioral Health Diagnoses in Youth with Differences of Sex Development or Congenital Adrenal Hyperplasia Compared with Controls: A PEDSnet Study. J Pediatr. 2021 Aug 27. [Epub ahead of print] PubMed PMID: 34461062
Vogiatzi MG, Davis SM, Ross JL. Cortical Bone Mass is Low in Boys with Klinefelter Syndrome and Improves with Oxandrolone. J Endocr Soc. 2021 Apr 1;5(4):bvab016. PubMed PMID: 33733020
Guzewicz L, Howell S, Crerand CE, Umbaugh H, Nokoff NJ, Barker J, Davis SM. Clinical phenotype and management of individuals with mosaic monosomy X with Y chromosome material stratified by genital phenotype. Am J Med Genet A. 2021 May;185(5):1437-1447. PubMed PMID: 33616298
Patel N, Davis S, Nahata L. TRANSITION-RELATED DISCUSSIONS AMONG ADOLESCENT FEMALES WITH TURNER SYNDROME: CURRENT PRACTICES AND ASSOCIATED FACTORS. Endocr Pract. 2021 Jan;27(1):56-62. PubMed PMID: 33475502
Cree-Green M, Carreau AM, Davis SM, Frohnert BI, Kaar JL, Ma NS, Nokoff NJ, Reusch JEB, Simon SL, Nadeau KJ. Peer mentoring for professional and personal growth in academic medicine. J Investig Med. 2020 Aug;68(6):1128-1134. PubMed PMID: 32641352
Davis SM, Soares K, Howell S, Cree-Green M, Buyers E, Johnson J, Tartaglia NR. Diminished Ovarian Reserve in Girls and Adolescents with Trisomy X Syndrome. Reprod Sci. 2020 Nov;27(11):1985-1991. PubMed PMID: 32578162
Davis SM, Bloy L, Roberts TPL, Kowal K, Alston A, Tahsin A, Truxon A, Ross JL. Testicular function in boys with 47,XYY and relationship to phenotype. Am J Med Genet C Semin Med Genet. 2020 Jun;184(2):371-385. PubMed PMID: 32544298
Davis SM, DeKlotz S, Nadeau KJ, Kelsey MM, Zeitler PS, Tartaglia NR. High prevalence of cardiometabolic risk features in adolescents with 47,XXY/Klinefelter syndrome. Am J Med Genet C Semin Med Genet. 2020 Jun;184(2):327-333. PubMed PMID: 32542985
Tartaglia N, Howell S, Davis S, Kowal K, Tanda T, Brown M, Boada C, Alston A, Crawford L, Thompson T, van Rijn S, Wilson R, Janusz J, Ross J. 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. Am J Med Genet C Semin Med Genet. 2020 Jun;184(2):428-443. PubMed PMID: 32506668
Chang S, Skakkebaek A, Davis SM, Gravholt CH. Morbidity in Klinefelter syndrome and the effect of testosterone treatment. Am J Med Genet C Semin Med Genet. 2020 Jun;184(2):344-355. PubMed PMID: 32496001
Aksglaede L, Davis SM, Ross JL, Juul A. Minipuberty in Klinefelter syndrome: Current status and future directions. Am J Med Genet C Semin Med Genet. 2020 Jun;184(2):320-326. PubMed PMID: 32476267
Hallgrímsson B, Aponte JD, Katz DC, Bannister JJ, Riccardi SL, Mahasuwan N, McInnes BL, Ferrara TM, Lipman DM, Neves AB, Spitzmacher JAJ, Larson JR, Bellus GA, Pham AM, Aboujaoude E, Benke TA, Chatfield KC, Davis SM, Elias ER, Enzenauer RW, French BM, Pickler LL, Shieh JTC, Slavotinek A, Harrop AR, Innes AM, McCandless SE, McCourt EA, Meeks NJL, Tartaglia NR, Tsai AC, Wyse JPH, Bernstein JA, Sanchez-Lara PA, Forkert ND, Bernier FP, Spritz RA, Klein OD. Automated syndrome diagnosis by three-dimensional facial imaging. Genet Med. 2020 Oct;22(10):1682-1693. PubMed PMID: 32475986
Thompson T, Howell S, Davis S, Wilson R, Janusz J, Boada R, Pyle L, Tartaglia N. Current survey of early childhood intervention services in infants and young children with sex chromosome aneuploidies. Am J Med Genet C Semin Med Genet. 2020 Jun;184(2):414-427. PubMed PMID: 32449585
Thompson T, Zieba B, Howell S, Karakash W, Davis S. A mixed methods study of physical activity and quality of life in adolescents with Turner syndrome. Am J Med Genet A. 2020 Feb;182(2):386-396. PubMed PMID: 31814298
Davis S, Ware MA, Zeiger J, Deardorff MA, Grand K, Grimberg A, Hsu S, Kelsey M, Majidi S, Matthew RP, Napier M, Nokoff N, Prasad C, Riggs AC, McKinnon ML, Mirzaa G. Growth hormone deficiency in megalencephaly-capillary malformation syndrome: An association with activating mutations in PIK3CA. Am J Med Genet A. 2020 Jan;182(1):162-168. PubMed PMID: 31729162
Davis S, Crerand C, Hutaff-Lee C, Thompson T, Tishelman A, Samara O, Umbaugh H, Nahata L, Kremen J. Neurodevelopmental and Mental Health Screening for Patients with Turner Syndrome in Pediatric Endocrine Clinics: Results of a Pediatric Endocrine Society Survey. Horm Res Paediatr. 2020;93(11-12):643-650. PubMed PMID: 33915553
Martin S, Cordeiro L, Richardson P, Davis S, Tartaglia N. Motor Skills and Adaptive Functioning in Children and Youth with XXY/Klinefelter and XXYY Syndromes. Physical & Occupational Therapy in Pediatrics, 2019; 39(4):446-459. PMID 30592247
Davis SM, Reynolds RM, Dabelea DM, Zeitler PS, Tartaglia NR. Testosterone Treatment in Infants With 47,XXY: Effects on Body Composition. J Endocr Soc. 2019 Dec 1;3(12):2276-2285. PubMed PMID: 31737857
Davis SM, Kaar JL, Ringham BM, Hockett CW, Glueck DH, Dabelea D. Sex differences in infant body composition emerge in the first 5 months of life. J Pediatr Endocrinol Metab. 2019 Nov 26;32(11):1235-1239. PubMed PMID: 31483758
Davis SM, Geffner ME. Cardiometabolic health in Turner syndrome. Am J Med Genet C Semin Med Genet. 2019 Mar;181(1):52-58. PubMed PMID: 30775849
Prakash SK, Lugo-Ruiz S, Rivera-Dávila M, Rubio N Jr, Shah AN, Knickmeyer RC, Scurlock C, Crenshaw M, Davis SM, Lorigan GA, Dorfman AT, Rubin K, Maslen C, Bamba V, Kruszka P, Silberbach M. The Turner syndrome research registry: Creating equipoise between investigators and participants. Am J Med Genet C Semin Med Genet. 2019 Mar;181(1):135-140. PubMed PMID: 30758128
Dabrowski E, Johnson EK, Patel V, Hsu Y, Davis S, Goetsch AL, Habiby R, Brickman WJ, Finlayson C. Turner Syndrome with Y Chromosome: Spontaneous Thelarche, Menarche, and Risk of Malignancy. J Pediatr Adolesc Gynecol. 2019 Aug 26. [Epub ahead of print] PubMed PMID: 31465855
Morgan TL, Kapa HM, Crerand CE, Kremen J, Tishelman A, Davis S, Nahata L. Fertility counseling and preservation discussions for females with Turner syndrome in pediatric centers: practice patterns and predictors. Fertil Steril. 2019 Oct;112(4):740-748. PubMed PMID: 31272723
Hsu SC, Bartz S, Pyle L, Fete M, Davis S, Ohman-Hanson R, Fete TJ, Motil KJ. Growth failure in focal dermal hypoplasia. Am J Med Genet A. 2019 Apr;179(4):628-633. PubMed PMID: 30693654
Davis SM, Lahlou N, Cox-Martin M, Kowal K, Zeitler PS, Ross JL. Oxandrolone Treatment Results in an Increased Risk of Gonadarche in Prepubertal Boys With Klinefelter Syndrome. J Clin Endocrinol Metab. 2018 Sep 1;103(9):3449-3455. PubMed PMID: 29931143
Davis S and Ross J. “Klinefelter Syndrome.” Encyclopedia of Endocrine Diseases, 2nd Edition. Elsevier. Editor Ilpo Huhtaniemi. October 2018. ISBN 978012812199
Tartaglia NR, Wilson R, Miller JS, Rafalko J, Cordeiro L, Davis S, Hessl D, Ross J. Autism Spectrum Disorder in Males with Sex Chromosome Aneuploidy: XXY/Klinefelter Syndrome, XYY, and XXYY. J Dev Behav Pediatr. 2017 Apr;38(3):197-207. PubMed PMID: 28333849
Ross JL, Kushner H, Kowal K, Bardsley M, Davis S, Reiss AL, Tartaglia N, Roeltgen D. Androgen Treatment Effects on Motor Function, Cognition, and Behavior in Boys with Klinefelter Syndrome. J Pediatr. 2017 Jun;185:193-199.e4. PubMed PMID: 28285751
Davis SM, Cox-Martin MG, Bardsley MZ, Kowal K, Zeitler PS, Ross JL. Effects of Oxandrolone on Cardiometabolic Health in Boys With Klinefelter Syndrome: A Randomized Controlled Trial. J Clin Endocrinol Metab. 2017 Jan 1;102(1):176-184. PubMed PMID: 27802097
Clinical Interests
My clinical and research interests include caring for infants, children and adolescents with X & Y chromosome variations, including XXY / Klinefelter syndrome and Turner syndrome, and other genetic syndromes that are associated with endocrine conditions.
Care Philosophy
I value working on interdisciplinary teams to provide comprehensive care for children and families with complex medical conditions.
Public Speaking Yes
Puberty and X & Y chromosome variations
General Information
Medical Schools:
MD, Mayo Medical School
(2010)
Graduate Schools:
MSCS, University of Colorado Denver
(2016)
PhD, University of Colorado Health Sciences Center
(2020)
Undergraduate Schools:
BA/BS, University of California–Davis (CA)
(2006)
Internships:
University of Colorado (Children's Hospital Colorado) Program
(2011)
Residency Programs:
University of Colorado (Children's Hospital Colorado) Program, Pediatrics (2013)
Fellowships:
University of Colorado (Children's Hospital Colorado) Program, Pediatric Endocrinology
(2016)
University of Colorado (Children's Hospital Colorado) Program, Clinical Research in X & Y Chromosome Variations
(2017)