TY - JOUR
T1 - Concordance of 21-hydroxylase gene ratio, human leukocyte antigen haplotyping and adrenal testing results in a family with late-onset adrenal hyperplasia
AU - Wells, G.
AU - Acton, R. T.
AU - Azziz, R.
PY - 1993
Y1 - 1993
N2 - 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 feasibility of screening carriers for 21-OH deficiencies with the CYP21A/CYP21B ratio or other molecular probes must be performed.
AB - 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 feasibility of screening carriers for 21-OH deficiencies with the CYP21A/CYP21B ratio or other molecular probes must be performed.
UR - http://www.scopus.com/inward/record.url?scp=0027247988&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0027247988&partnerID=8YFLogxK
M3 - Article
C2 - 8410868
AN - SCOPUS:0027247988
SN - 0024-7758
VL - 38
SP - 615
EP - 620
JO - Journal of Reproductive Medicine for the Obstetrician and Gynecologist
JF - Journal of Reproductive Medicine for the Obstetrician and Gynecologist
IS - 8
ER -