A patient with congenital lipoid adrenal hyperplasia evaluated by serial abdominal ultrasonography.
Adrenal enlargement was followed by serial ultrasonography in an infant with congenital lipoid adrenal hyperplasia (lipoid CAH) from day 12 until 2 years and 4 months of age, when they were no longer detectable. Contrary to other types of CAH in which the configuration changes soon after replacement therapy, this infant with lipoid CAH showed persistent adrenal cortex enlargement due to massive accumulation of lipids and cholesterol resulting in a damaged glandular cyto-architecture.


CONCLUSIONS
ultrasonographically persistent enlargement of the adrenals after replacement therapy is suggestive of the lipoid form of CAH.
Department of Paediatrics, Kansai Medical University, Moriguchi, Osaka, Japan.
J
J
Takaya
R
R
Ishihara
M
M
Kino
H
H
Higashino
Y
Y
Kobayashi
D000302:Adrenal Cortex / Q000000981:diagnostic imaging*; D000312:Adrenal Hyperplasia, Congenital / Q000000981:diagnostic imaging* / Q000235:genetics / Q000503:physiopathology; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007223:Infant; D050356:Lipid Metabolism; D014463:Ultrasonography