A Case of Congenital Lipoid Adrenal Hyperplasia
Journal of the Korean Pediatric Society
; : 567-573, 1995.
Article
in Ko
| WPRIM
| ID: wpr-197063
Responsible library:
WPRO
ABSTRACT
Congenital lipoid adrenal hyperplasia is the rarest type among salt losing types of congenital adrenal hyperplasia. The defect of this disorder is in the cholesterol side chain cleavage enzyme(P450SCC)which converts cholesterol to pregnenolone. W experienced a case of 20,22 desmolse deficiency in a 21-day old phenotypically female who was admitted to our hospital due to lethargy and dark skin pigmentation. The characteristic findings were decreased serum cortisol, aldosterone, testosterone, increased ACTH. The ACTH and hCG stimulation test were performed and there were no response. The sex chromosomal analysis showed made XY. One year later after hormone therapy, growth and development are normal.
Key words
Full text:
1
Index:
WPRIM
Main subject:
Pregnenolone
/
Testosterone
/
Skin Pigmentation
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Hydrocortisone
/
Cholesterol
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Adrenal Hyperplasia, Congenital
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Adrenocorticotropic Hormone
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Growth and Development
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Aldosterone
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Lethargy
Limits:
Female
/
Humans
Language:
Ko
Journal:
Journal of the Korean Pediatric Society
Year:
1995
Type:
Article