I came across this study on Pubmed and wondered if someone with more knowledge on genetics could tell me what it means exactly.

1: J Reprod Med. 1993 Aug;38(8):615-20.  Related Articles, Links 
Concordance of 21-hydroxylase gene ratio, human leukocyte antigen haplotyping and adrenal testing results in a family with late-onset adrenal hyperplasia.

Wells G, Acton RT Jr, Azziz R.

Department of Obstetrics and Gynecology, University of Alabama at Birmingham 35233-7333.

Late-onset adrenal hyperplasia (LOAH) due to 21-hydroxylase (21-OH) deficiency is one of the most common autosomal recessive disorders. There appear to be two 21-OH genes, CYP21A (a pseudogene) and CYP21B (the functional gene), which lie in close proximity to the human leukocyte antigen (HLA) encoding region on the short arm of chromosome 6. While the CYP21A/CYP21B ratio is normally 1:1, ratio abnormalities are frequent in LOAH, suggesting gene deletion, duplication or conversion. The objective of this study was to determine whether an abnormal CYP21A/CYP21B ratio could predict carriers of LOAH, as determined by endocrine and HLA results. The probands appear to be compound heterozygotes carrying a 21-OH gene for LOAH and a deletion of the homologous gene. However, concordance between an abnormal 21-OH gene ratio and the inheritance of the LOAH gene does not appear to be complete, as demonstrated by this family study. Further studies of the feasability of screening carriers for 21-OH deficiencies with CYP21A/CY21B ratio or other molecule probes must be performed.

 

Publication Types:
Case Reports

PMID: 8410868 [PubMed - indexed for MEDLINE]
 

Is 21 Hydroxylase deficiency referred to as CYP21A or CY21B?    Does anyone using the board know of any follow on studies of this paper or have any idea where one would enquire about the reasoning behind this study and if there have been any studies done at all?

I asked the question last week if one could theoretically have LOCAH as opposed to being a "carrier" for CAH and if that person could actually conceive a SWCAH child if the father was a carrier for SWCAH.  Someone mentioned that they were doing studies into some carriers and their symptoms etc. 

I’m not up on genetics sorry and the above study is absolute gobbledy gook.  But I’d like to know if it would support the need for further tests for LOCAH as a parent of a child with CAH if your having LOCAH symptoms on a mild level.