A Case of Congenital Adrenal Hyperplasia due to 11beta-Hydroxylase Deficiency / 대한내분비학회지
Journal of Korean Society of Endocrinology
; : 58-63, 2004.
Article
in Ko
| WPRIM
| ID: wpr-173602
Responsible library:
WPRO
ABSTRACT
Congenital adrenal hyperplasia refers to a group of autosomal recessive disorders that is defective in the synthesis of cortisol. The enzymes most often affected are 21-hydroxylase and 11beta hydroxylase. The low levels of cortisol stimulate the pituitary gland to release ACTH. Chronic elevation of the ACTH level causes bilateral adrenal hyperplasia and a secondary increase in androgen formation. We examined a 19 year-old woman presented with clitoral hypertrophy and vaginal spotting. The subjects basal level of serum cortisol was low, but the serum levels of ACTH, 17a-hydroxyprogesterone, deoxy-corticosterone were elevated. The urinary excretions of 17-ketosteroids and 17-hydroxycorticosteroids were also increased. The karyotyping study and transrectal ultrasonography showed normal findings. The patient underwent clitoris reduction surgery and received hydrocortisone. To the best of our knowledge, this is the first case of 11beta-Hydroxylase deficiency in Korea.
Key words
Full text:
1
Index:
WPRIM
Main subject:
Pituitary Gland
/
Hydrocortisone
/
Steroid 21-Hydroxylase
/
Ultrasonography
/
Clitoris
/
Adrenal Hyperplasia, Congenital
/
Adrenocorticotropic Hormone
/
17-Hydroxycorticosteroids
/
Hyperplasia
/
Hypertrophy
Type of study:
Diagnostic_studies
Limits:
Female
/
Humans
Country/Region as subject:
Asia
Language:
Ko
Journal:
Journal of Korean Society of Endocrinology
Year:
2004
Type:
Article