Population Health in Children and Adolescents with Sex and Gender Differences
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Abstract
Study aimed to describe clinical outcomes in youth with sex chromosome aneuploidies (SCAs) and the care these individuals receive. The study specifically aims to quantify co-existing diagnoses and healthcare utilization associated with a diagnosis of SCA compared to the general pediatric population; to describe and compare the current clinical care practices from youth with SCA; and to develop a computable phenotype to identify a specific model SCA population, TS girls on estradiol (E2) by route of administration, in preparation for a future comparative effectiveness study.
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Description
This study describes the prevalence and demographic characteristics of children diagnosed with a sex or gender difference and changes. The study aims to describe the clinical management for children diagnosed with a sex or gender difference and changes, with a focus on hormone prescribing patterns, surgical interventions, and ordering for screening studies. Finally, the study also examines the morbidity associated with a diagnosis of a sex or gender difference compared to population controls of similar age, race/ethnicity, insurance status and location.
Significance
- Sex Chromosome Aneuploidies (SCAs) are common, and the rate of early diagnosis is rapidly increasing as prenatal screening becomes standard of care, but research is lagging.
- SCAs affect mental and physical health.
- Lack of guidelines to inform clinical care in pediatrics negatively affects patient outcomes.
Study Design
This is an observational study using a national sample of pediatric patients at tertiary care children’s health systems (PEDSnet). Patients with a diagnosis of SCA in PEDSnet will be used to:
- Quantify morbidity and healthcare utilization relative to a matched control group (nested case-control design).
- Describe current clinical care practices.
- Prepare for future comparative effectiveness studies.
Study Aims
Aim 1: Quantify co-existing diagnoses and healthcare utilization associated with a diagnosis of SCA compared to the general pediatric population.
Aim 2: Describe and compare the current clinical care practices for youth with SCA across the US.
Aim 3: Develop a computable phenotype to identify a specific SCA population, TS girls on estradiol (E2), in preparation for a future comparative effectiveness study using PEDSnet data.
Cohort Definition
Aim 1 analyses will include individuals in the PEDSnet database with an outpatient encounter (E&M code for outpatient service) who were 0-26 years of age between 2009 – 2019.
Aim 2 will build upon this cohort but will only include the four primary groups: TS, XXY, XXX, and XYY. TS and XXY groups will be stratified by site (XXX and XYY will likely have too few to evaluate by site, but overall care practices will still be described).
Aim 3 analyses will only include females in PEDSnet with TS >10 years of age as identified in Aims 1 and 2.
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Related Publications
Sewell R, Buchanan CL, Davis S, Christakis DA, Dempsey A, et al. December 2021. “Behavioral Health Diagnoses in Youth with Differences of Sex Development or Congenital Adrenal Hyperplasia Compared with Controls: A PEDSnet Study.” J Pediatr. 239:175-181.e2.
DOI: 10.1016/j.jpeds.2021.08.066
Nunes-Moreno M, Buchanan C, Cole F, Davis S, et al. 2022. “Behavioral Health Diagnoses in Youth with Gender Dysphoria Compared with Controls: A PEDSnet Study.” The Journal of Pediatrics Volume 241, Pages 147-153.e1. ISSN 0022-3476.
DOI: 10.1016/j.jpeds.2021.09.032.
Nunes-Moreno M, Buchanan C, Cole FS, Davis S, Dempsey A, et al. February 2022. “Behavioral Health Diagnoses in Youth with Gender Dysphoria Compared with Controls: A PEDSnet Study.” J Pediatr. 241:147-153.e1.
DOI: 10.1016/j.jpeds.2021.09.032
Davis SM, Nokoff NJ, Furniss A, Pyle L, Valentine A, et al. April 2022. “Population-based Assessment of Cardiometabolic-related Diagnoses in Youth With Klinefelter Syndrome: A PEDSnet Study.” J Clin Endocrinol Metab. 107(5):e1850-e1859.
DOI: 10.1210/clinem/dgac056
Singh I, Noel G, Barker J, Chatfield K, Furniss A, Khanna A, et al. July 2022. “Hepatic Abnormalities in Youth with Turner Syndrome.” Liver International.
DOI: 10.1111/liv.15358
Valentine A, Davis S, Furniss A, Dowshen N, Kazak A. October 2022. "Multicenter Analysis of Cardiometabolic-related Diagnoses in Transgender and Gender-Diverse Youth: A PEDSnet Study. The Journal of Clinical Endocrinology & Metabolism. Volume 107. Issue 10. Pages 4004-4014.
DOI: 10.1210/clinem/dgac469
Huang SD, Bamba V, Bothwell S, Fechner PY, Furniss A, et al. July 2023. “Development and Validation of a Computable Phenotype for Turner Syndrome Utilizing Electronic Health Records from a National Pediatric Network.” medRxiv [Preprint]. 23292889.
DOI: 10.1101/2023.07.19.23292889.
Update in: Am J Med Genet A. 2024 Apr;194(4):e63495.
DOI: 10.1002/ajmg.a.63495
Chen LM, Valentine A, Davis SM, Graber E, Fechner PY, et al. May 2024. “Multicenter Analysis of Cardiometabolic-Related Diagnoses in Youth with Congenital Adrenal Hyperplasia: a PEDSnet study.” J Clin Endocrinol Metab. dgae362.
DOI: 10.1210/clinem/dgae362
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