J Korean Endocr Soc.
2007 Aug;22(4):299-304. 10.3803/jkes.2007.22.4.299.
Two Cases of Simple Virilizing Congenital Adrenal Hyperplasia with Compound Heterozygous Mutations of CYP21 Gene
- Affiliations
-
- 1Department of Internal Medicine, Chungnam National University College of Medicine.
- 2Department of Internal Medicine, Eulji University College of Medicine.
- KMID: 2063542
- DOI: http://doi.org/10.3803/jkes.2007.22.4.299
Abstract
- Steroid 21-hydroxylase deficiency is the most frequent cause of congenital adrenal hyperplasia (CAH), which is an inherited inability to synthesize cortisol. Actually, CAH is caused by mutations in the CYP21 gene encoding the steroid 21-hydroxylase enzyme. In some cases, discordance has been observed between the genotype and the phenotype. We recently experienced two cases of simple virilizing congenital adrenal hyperplasia with compound heterozygous mutations of the CYP21 gene. The patients had primary amenorrhea and showed virilization. We have described these two cases along with a review of the literature.
- Full Text Links
-
- Actions
-
Cited
- CITED
-
- Close
- Share
-
- Similar articles
-
- Three Cases of Congenital Adrenal Hyperplasia Owing to Multiple Mutations of CYP21 Gene
- Molecular Diagnosis of 21-hydroxylase (CYP21) Gene mutations in Congenital Adrenal Hyperplasia
- Hormone profile in patients with simple virilizing congenital adrenal hyperplasia due to 21-hydroxylase deficiency
- A Study on the Relationship Between Genotype and Phenotype in Korean Patients with Congenital Adrenogenital Syndrome Caused by 21-hydroxylase Deficiency
- Growth pattern and final height in congenital adrenal hyperplasia
