PMID: 6969062Aug 1, 1980Paper

Congenital adrenal hyperplasia--a clinical and genetic survey. Are we detecting male salt-losers?

Archives of Disease in Childhood
L MurtazaI C Balfour

Abstract

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.

References

Feb 26, 1977·Lancet·I A HughesA D Birch
May 1, 1979·Archives of Disease in Childhood·I A HughesO P Gray
Sep 1, 1969·The Journal of Pediatrics·A J Hirschfeld, J K Fleshman
Feb 1, 1956·The Journal of Clinical Investigation·B CHILDSJ J VAN WYK
Oct 1, 1958·The Journal of Pediatrics·J N ETTELDORFW FLEISCHMANN

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Citations

Jan 1, 1986·Journal of Inherited Metabolic Disease·I A Hughes
Jan 1, 1986·Journal of Inherited Metabolic Disease·N K Virdi, A Green
Sep 19, 1987·Lancet
Apr 1, 1982·Archives of Disease in Childhood·M O SavageD B Grant
Mar 1, 1989·Archives of Disease in Childhood·J Sólyom, I A Hughes
Mar 1, 1990·European Journal of Pediatrics·M M LubaniE A Ismail
Mar 1, 1982·Clinics in Endocrinology and Metabolism·I A Hughes
Jan 3, 2007·Hormone Research·Scott D Grosse, Guy Van Vliet
Feb 7, 2008·Hormone Research·Ieuan A Hughes
Sep 1, 1989·Jinrui idengaku zasshi. The Japanese journal of human genetics·D KanjilalS Popescu
May 19, 2021·Médecine sciences : M/S·Dulanjalee KariyawasamMichel Polak

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