Congenital adrenal hyperplasia--a clinical and genetic survey. Are we detecting male salt-losers?
| Autor: | I.A. Hughes, I C Balfour, L.M. Murtaza, J R Sibert |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 1980 |
| Předmět: |
Male
Pathology medicine.medical_specialty Heterozygote Adolescent Physiology Human leukocyte antigen Clinical study Sex Factors Gene Frequency Genetic linkage HLA Antigens medicine Humans Congenital adrenal hyperplasia Allele Child Wales Adrenal Hyperplasia Congenital business.industry Incidence (epidemiology) Sodium medicine.disease Child Preschool Pediatrics Perinatology and Child Health Female business Research Article |
| Popis: | In a genetic and clinical study in Wales of congenital adrenal hyperplasia due to 21-hydroxylase deficiency, 26 cases were found in the period 1966 to 1977. No one was known to have died from the condition in the period. There were 14 female and 5 male salt-losers, and 5 female and 2 male nonsalt-losers. The discrepancy between the sexes suggests that some cases of congenital adrenal hyperplasia in males are not being detected. This is of concern as salt-losing cases may be dying without a diagnosis being established. The carrier incidence of the condition in females, assuming complete ascertainment, is 1:55. Salt-losers in Wales appear to be more than twice as common as nonsalt-losers. HLA typing of certain affected families confirmed a genetic linkage between the congenital adrenal hyperplasia gene and HLA. This linkage appears to exist in both forms of congenital adrenal hyperplasia and suggests that the genes for salt-losing and nonsalt-losing forms of congenital adrenal hyperplasia are alleles. The linkage between congenital adrenal hyperplasia and HLA provides a potential method for antenatal detection. However, only a few parents would wish to take advantage of this method if it were readily available. |
| Databáze: | OpenAIRE |
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