11β-수산화효소 결핍에 의한 선천성 부신증식증 1예 : A Case of Congenital Adrenal Hyperplasia due to 11β-Hydroxylase Deficiency
A Case of Congenital Adrenal Hyperplasia due to 11β-Hydroxylase Deficiency
- 주제(키워드) Congenital adrenal hyperplasia , 11β-hydroxylase , Cortisol , Congenital adrenal hyperplasia , 11β-hydroxylase , Cortisol
- 발행기관 대한내분비학회
- 발행년도 2004
- 총서유형 Journal
- UCI G704-001505.2004.19.1.009
- KCI ID ART001171191
초록/요약
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 11β- 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 11β-hydroxylase deficiency in Korea(J Kor Soc Endocrinol 19:58～63, 2004).
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