Abstract
This paper describes the successful use of abdominal computed tomography (CT) scan in diagnosing congenital lipoid adrenal hyperplasia in a Japanese male with no virilization at 9 days of age. The CT unequivocally delineated massively enlarged adrenal glands of fat-tissue attenuation, enabling early replacement therapy.
MeSH terms
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Adrenal Hyperplasia, Congenital / blood
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Adrenal Hyperplasia, Congenital / diagnostic imaging*
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Adrenal Hyperplasia, Congenital / drug therapy
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Cholesterol Side-Chain Cleavage Enzyme / deficiency*
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Diagnosis, Differential
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Female
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Hormones / therapeutic use
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Humans
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Infant, Newborn
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Male
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Sex Determination Analysis
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Time Factors
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Tomography, X-Ray Computed*
Substances
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Hormones
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Cholesterol Side-Chain Cleavage Enzyme