Search tips
Search criteria 


Logo of archdischArchives of Disease in ChildhoodVisit this articleSubmit a manuscriptReceive email alertsContact usBMJ
Arch Dis Child. 1980 August; 55(8): 622–625.
PMCID: PMC1627026

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


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.

Full text

Full text is available as a scanned copy of the original print version. Get a printable copy (PDF file) of the complete article (506K), or click on a page image below to browse page by page. Links to PubMed are also available for Selected References.

Selected References

These references are in PubMed. This may not be the complete list of references from this article.
  • CHILDS B, GRUMBACH MM, VAN WYK JJ. Virilizing adrenal hyperplasia; a genetic and hormonal study. J Clin Invest. 1956 Feb;35(2):213–222. [PMC free article] [PubMed]
  • Hirschfeld AJ, Fleshman JK. An unusually high incidence of salt-losing congenital adrenal hyperplasia in the Alaskan Eskimo. J Pediatr. 1969 Sep;75(3):492–494. [PubMed]
  • Dupont B, Oberfield SE, Smithwick EM, Lee TD, Levine LS. Close genetic linkage between HLA and congenital adrenal hyperplasia (21-hydroxylase deficiency). Lancet. 1977 Dec 24;2(8052-8053):1309–1312. [PubMed]
  • Hughes IA, Winter JS. The application of a serum 17OH-progesterone radioimmunoassay to the diagnosis and management of congenital adrenal hyperplasia. J Pediatr. 1976 May;88(5):766–773. [PubMed]
  • Hughes IA, Winter JS. Early diagnosis of salt-losing congenital adrenal hyperplasia in a newborn boy. Can Med Assoc J. 1977 Aug 20;117(4):363–365. [PMC free article] [PubMed]
  • Pang S, Hotchkiss J, Drash AL, Levine LS, New MI. Microfilter paper method for 17 alpha-hydroxyprogesterone radioimmunoassay: its application for rapid screening for congenital adrenal hyperplasia. J Clin Endocrinol Metab. 1977 Nov;45(5):1003–1008. [PubMed]
  • Harper PS. Genetic variation in Wales. J R Coll Physicians Lond. 1976 Jul;10(4):321–332. [PubMed]
  • PRADER A, ANDERS GJ, HABICH H. [On the genetics of the congenital adrenogenital syndrome (virilizing adrenal hyperplasia)]. Helv Paediatr Acta. 1962;17:271–284. [PubMed]
  • HLA and congenital adrenal hyperplasia linkage confirmed. Lancet. 1978 Apr 29;1(8070):930–932. [PubMed]
  • Hughes IA, Wilton A, Lole CA, Gray OP. Continuing need for mineralocorticoid therapy in salt-losing congenital adrenal hyperplasia. Arch Dis Child. 1979 May;54(5):350–355. [PMC free article] [PubMed]
  • Hughes IA, Williams DH, Birch AD. Early diagnosis of congenital adrenal hyperplasia. Lancet. 1977 Feb 26;1(8009):487–487. [PubMed]

Articles from Archives of Disease in Childhood are provided here courtesy of BMJ Publishing Group