Journal of Korean Endocrine Society 2004;19(1):58-63.
Published online February 1, 2004.
A Case of Congenital Adrenal Hyperplasia due to 11beta-Hydroxylase Deficiency.
Ohk Hyun Ryu, Hye Jin Yoo, Soo Yeon Park, Soon Beom Kwon, Sang Soo Park, Hee Young Kim, Kye Won Lee, Ji A Seo, Jeong Heon Oh, Sin Gon Kim, Nan Hee Kim, Kyung Mook Choi, Sei Hyun Baik, Dong Seop Choi
Department of Internal Medicine, College of Medicine, Korea University, Seoul, Korea.
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: Congenital adrenal hyperplasia, 11beta-hydroxylase, Cortisol

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