# Population Health in Pediatric Sex Chromosome Aneuploidies

> **NIH NIH R03** · UNIVERSITY OF COLORADO DENVER · 2021 · $77,750

## Abstract

PROJECT SUMMARY / ABSTRACT
One in 400 infants have an atypical number of X and Y chromosomes, collectively known as sex chromosome
aneuploidies (SCAs). Despite the number of individuals affected by SCAs, they often go unrecognized and are
vastly understudied, particularly in children. With recent changes in non-invasive prenatal testing
recommendations, more infants with SCAs are being diagnosed. However, our ability to provide accurate
counseling to parents or guidelines for clinical practice is limited. This project utilizes data from a large network
of major children’s healthcare systems across the US (PEDSnet) to study >4,000 youth with SCAs. In Aim 1
we will quantify co-existing mental and physical health diagnoses and healthcare utilization in youth with
Turner, Klinefelter (XXY), Trisomy X, and XYY syndromes compared to the general pediatric population. In Aim
2 we will describe current clinical care practices that children with these conditions are receiving in the US.
Finally, in Aim 3 we will prepare for a future comparative effectiveness study of estradiol in girls with Turner
syndrome by developing and validating an algorithm using multiple data elements to establish an accurate
computable phenotype. Through this novel, population-based approach to study youth with SCAs, we will have
an immediate impact on genetic counseling for patients and families, support and inform the development of
clinical practice guidelines, and prepare for future high-impact studies for infants, children, and adolescents
with these conditions. In addition to advances for SCA research, the data source and methodologies from this
project may be translatable to other genetic syndromes and pediatric rare diseases.

## Key facts

- **NIH application ID:** 10246461
- **Project number:** 5R03HD102773-02
- **Recipient organization:** UNIVERSITY OF COLORADO DENVER
- **Principal Investigator:** Shanlee Davis
- **Activity code:** R03 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2021
- **Award amount:** $77,750
- **Award type:** 5
- **Project period:** 2020-09-01 → 2022-08-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10246461

## Citation

> US National Institutes of Health, RePORTER application 10246461, Population Health in Pediatric Sex Chromosome Aneuploidies (5R03HD102773-02). Retrieved via AI Analytics 2026-05-22 from https://api.ai-analytics.org/grant/nih/10246461. Licensed CC0.

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