Congenital adrenal hyperplasia (CAH) is genetic disorder with serious life-long health implications. Face2CAH considers using the face as a phenotypic biomarker that can be easily used by physicians to adjust medications for CAH patients to improve their quality of life.
JAMA Network Open
Congenital adrenal hyperplasia (CAH) is a genetic disorder that causes abnormal function of the adrenal gland. Despite being often discovered during pregnancy, CAH is not treatable, and patients must be on hormone therapy for their entire life. As of today, there does not exist robust phenotypical biomarkers (i.e. observable characteristics or traits,) with which physicians can adjust medication, without asking patients to undergo other types of tests, such as blood work, which could be expensive and/or time consuming and inefficient.
It has been shown that sex hormones (i.e. testosterone, estrogen) influence the development of sexually dimorphic facial features, with differential morphologic features in adults associated with umbilical cord blood testosterone levels. This lack of robust phenotypic biomarkers leads us to consider the human face, which contains a wealth of information, including health status and differences by sex. Our hope is to be able to develop a phenotypic biomarker that can be easily used by physicians to adjust medications for CAH patients to improve their quality of life.