Article
[Congenital adrenal hyperplasia due to 21-hydroxylase deficiency].
Nihon rinsho. Japanese journal of clinical medicine - 1 Feb 2004
Fujieda Kenji, Mukai Tokuo
Abstract excerpt
21-hydroxylase deficiency occurring in one of 15,000 live births represents the most frequent disorder in female pseudohermaphroditism. Molecular genetic analysis is useful for ascertaining disease condition. Newborn mass-screening has been conducted in Japan. Prenatal diagnosis and treatment is feasible.
Topics
- Adrenal Hyperplasia, Congenital
- Dexamethasone
- Diagnosis, Differential
- Disorders of Sex Development
- Female
- Fetal Diseases
- Gestational Age
- Humans
- Infant, Newborn
- Molecular Diagnostic Techniques
- Mutation
- Neonatal Screening
- Pregnancy
- Prenatal Diagnosis
- Steroid 21-Hydroxylase