Work

O14: A polygenic score for height to distinguish between children with idiopathic and pathologic short stature

Year: 2024

Type: article

Abstract: Pediatric short stature, defined as a height more than 2 standard deviations below the mean, can result from diverse pathologies such as growth hormone deficiency or inflammatory bowel disease. Many cases of short stature are due to a heritable (familial) predisposition, which is confirmed by comparing a child’s height to their mid-parental height (MPH) estimate. Children with non-familial short stature often undergo extensive testing to identify underlying pathology. Despite this, around 30% of children evaluated for short stature remain without a diagnosis and are classified as having idiopathic short stature (ISS).

Source: Genetics in Medicine Open

DOI: 10.1016/j.gimo.2024.101016

Authors: John Shelley, Mingjian Shi, Josh Peterson, Sara Van Driest, Jill Simmons, Jonathan Mosley

Institutions: Vanderbilt University, Vanderbilt University Medical Center

Language: English

Topic: Growth Hormone and Insulin-like Growth Factors

Subfield: Endocrinology, Diabetes and Metabolism

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $3,200