Abstract

Purpose: Classical Congenital Adrenal Hyperplasia (CAH) due to 21-hydroxylase deficiency affects 1:15,000 newborns and involves adrenal insufficiency and androgen excess. These hormone abnormalities are evident as early as 7 weeks’ gestation and persist throughout pregnancy. Structural brain abnormalities are also known to occur in CAH, with abnormalities of brain and facial structure occurring together in conditions such as fetal alcohol spectrum disorder and holoprosencephaly. As well, sex differences in facial morphology are well described in healthy individuals. Thus, we aimed to study facial features using artificial intelligence in CAH youth. Methods: We studied frontal images of the face in 57 youth with severe salt-wasting CAH (60% female; 9.4±5.5y), and 38 controls (47% female, 9.7±5.1y), acquired with an iPad v12.1. We included 32 additional controls (43% female; 4-19y) from a …

Date

2020

Authors

Xiao Guo, Hengameh Mirzaalian, Wael Abd-Almageed, Linda M Randolph, Veeraya K Tanawattanacharoen, Mitchell E Geffner, Heather M Ross, Mimi S Kim

Journal

Journal of the Endocrine Society

Volume

4

Issue

Supplement_1

Pages

SAT-087

Publisher

Oxford University Press