J Korean Soc Endocrinol.  2004 Feb;19(1):58-63.

A Case of Congenital Adrenal Hyperplasia due to 11beta-Hydroxylase Deficiency

• Ryu OH
• Yoo HJ
• Park SY
• Kwon SB
• Park SS
• Kim HY
• Lee KW
• Seo JA
• Oh JH
• Kim SG
• Kim NH
• Choi KM
• Baik SH
• Choi DS

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.

MeSH Terms

17-Hydroxycorticosteroids
17-Ketosteroids
Adrenal Hyperplasia, Congenital*
Adrenocorticotropic Hormone
Clitoris
Female
Humans
Hydrocortisone
Hyperplasia
Hypertrophy
Karyotyping
Korea
Metrorrhagia
Pituitary Gland
Steroid 21-Hydroxylase
Ultrasonography
Young Adult
17-Hydroxycorticosteroids
17-Ketosteroids
Adrenocorticotropic Hormone
Hydrocortisone
Steroid 21-Hydroxylase