PMID- 8410868
OWN - NLM
STAT- MEDLINE
DCOM- 19931123
LR  - 20161123
IS  - 0024-7758 (Print)
IS  - 0024-7758 (Linking)
VI  - 38
IP  - 8
DP  - 1993 Aug
TI  - Concordance of 21-hydroxylase gene ratio, human leukocyte antigen haplotyping and 
      adrenal testing results in a family with late-onset adrenal hyperplasia.
PG  - 615-20
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.
FAU - Wells, G
AU  - Wells G
AD  - Department of Obstetrics and Gynecology, University of Alabama at Birmingham 
      35233-7333.
FAU - Acton, R T Jr
AU  - Acton RT Jr
FAU - Azziz, R
AU  - Azziz R
LA  - eng
GR  - DK32767/DK/NIDDK NIH HHS/United States
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - J Reprod Med
JT  - The Journal of reproductive medicine
JID - 0173343
RN  - 0 (HLA Antigens)
RN  - EC 1.14.14.16 (Steroid 21-Hydroxylase)
SB  - IM
GS  - CYP21A
GS  - CYP21B
MH  - Adolescent
MH  - Adrenal Hyperplasia, Congenital/*diagnosis/*genetics
MH  - Chromosomes, Human, Pair 6
MH  - Female
MH  - HLA Antigens/*genetics
MH  - Haplotypes
MH  - Humans
MH  - Male
MH  - Pedigree
MH  - Pseudogenes
MH  - Steroid 21-Hydroxylase/*genetics
EDAT- 1993/08/01 00:00
MHDA- 2001/03/28 10:01
CRDT- 1993/08/01 00:00
PHST- 1993/08/01 00:00 [pubmed]
PHST- 2001/03/28 10:01 [medline]
PHST- 1993/08/01 00:00 [entrez]
PST - ppublish
SO  - J Reprod Med. 1993 Aug;38(8):615-20.