Abstract
Congenital adrenal hyperplasia is a rare, genetic disorder. In Denmark about 90 cases have been diagnosed over the last 20 years. It is potentially life-threatening in early childhood, and must be intensively controlled in order to achieve a normal growth, pubertal maturation and fertility. This article reviews the pathogenesis and genetic and clinical characteristics underlying congenital adrenal hyperplasia, and outlines pre- and postnatal approaches to the diagnosis and monitoring, with special emphasis on 21-hydroxylase defect.
Translated title of the contribution | Adrenogenital syndrome--diagnosis, treatment and therapeutic control |
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Original language | Danish |
Journal | Ugeskrift for Laeger |
Volume | 157 |
Issue number | 16 |
Pages (from-to) | 2306-10 |
Number of pages | 5 |
ISSN | 0041-5782 |
Publication status | Published - 17 Apr 1995 |
Externally published | Yes |