A Case of Cogenital Adrenal Hyperplasia with Concomitant Abnormalities of Steroid 21- and 11β-hydroxylase Activities

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Title ( eng )
A Case of Cogenital Adrenal Hyperplasia with Concomitant Abnormalities of Steroid 21- and 11β-hydroxylase Activities
Creator
Egusa Genshi
Mori Hiroshi
Yamane Kiminori
Okamura Midori
Oda Kiyoshi
Ishida Sakurako
Kado Seijiro
Hara Hitoshi
Yamakido Michio
Source Title
Hiroshima Journal of Medical Sciences
Volume 39
Issue 4
Start Page 145
End Page 147
Journal Identifire
[PISSN] 0018-2052
[EISSN] 2433-7668
[NCID] AA00664312
Abstract
Abnormalities in the steroid 21-hydroxylase and 11β-hydroxylase activities were suspeted in a 25-year-old female with congenital adrenal hyperplasia (CAH). The patient showed signs of masculinization such as hirsutism, amenorrhea, and enlarged clitoris, but the blood pressure was normal. Adrenocorticotropic was increased to 200 pg/ml. Plasma levels of deoxycorticosterone and 11-deoxyortisol as well as progesterone and 17-hydroxyprogesterone were elevated. Plasma cortisol level was normal at 5.8 μg/dl. CT scan revealed enlargement of the bilataral adrenal glands.   

This case suggests that enzyme abnormalities in CAH are more diverse than have been generally considered.
Keywords
Congenital adrenal hyperplasia
21-hydroxylase
11β-hydroxylase
NDC
Medical sciences [ 490 ]
Language
eng
Resource Type departmental bulletin paper
Publisher
Hiroshima University Medical Press
Date of Issued 1990-12
Publish Type Version of Record
Access Rights open access
Source Identifier
[ISSN] 0018-2052
[NCID] AA00664312
[PMID] 2086566