PMID- 2982907
OWN - NLM
STAT- MEDLINE
DCOM- 19850416
LR  - 20151119
IS  - 0021-972X (Print)
IS  - 0021-972X (Linking)
VI  - 60
IP  - 4
DP  - 1985 Apr
TI  - Genetic differences between the salt-wasting, simple virilizing, and nonclassical 
      types of congenital adrenal hyperplasia.
PG  - 757-63
AB  - Human leukocyte antigen (HLA) alleles and plasma 17-hydroxyprogesterone levels 
      after ACTH stimulation were studied in 134 German families of patients with the 
      salt-wasting (SW), simple virilizing (SV), or nonclassical (NC) late-onset form 
      of congenital adrenal hyperplasia (CAH). Unexpected hormonal evidence for CAH was 
      found in 6 otherwise healthy members of the relatives' group, who, therefore, 
      were considered to be NC cryptic cases. HLA typing revealed a genetic difference 
      between the 2 classical disease forms; SW CAH was strongly associated with Bw47, 
      whereas SV CAH was closely linked to B5(w51). It also confirmed the nearly 
      complete connection of NC CAH with B14. These alleles, especially Bw47 and B14, 
      are mostly components of normally rare haplotypes: A3,Bw47,DR7 and Aw33,B14,DR1, 
      respectively. They do not occur in the families' disease-unaffected haplotypes. 
      Thus, it may be that all or almost all individuals from the general population 
      bearing 1 of them are in fact CAH heterozygotes. Moreover, it seems possible to 
      predict the severity of an infant's disease from his genomic type. The HLA 
      linkage data were consistent with those obtained from ACTH testing, which showed 
      significantly higher 17-hydroxyprogesterone increases in the genetically defined 
      heterozygous relatives of SW patients than in the respective members of SV 
      families. Of the families, 2 were also informative for mapping of the CAH disease 
      gene(s) within the HLA-B to Glo interval.
FAU - Holler, W
AU  - Holler W
FAU - Scholz, S
AU  - Scholz S
FAU - Knorr, D
AU  - Knorr D
FAU - Bidlingmaier, F
AU  - Bidlingmaier F
FAU - Keller, E
AU  - Keller E
FAU - Albert, E D
AU  - Albert ED
LA  - eng
PT  - Comparative Study
PT  - Journal Article
PL  - United States
TA  - J Clin Endocrinol Metab
JT  - The Journal of clinical endocrinology and metabolism
JID - 0375362
RN  - 0 (Genetic Markers)
RN  - 0 (Hydroxyprogesterones)
RN  - 68-96-2 (17-alpha-Hydroxyprogesterone)
RN  - 9002-60-2 (Adrenocorticotropic Hormone)
SB  - IM
MH  - 17-alpha-Hydroxyprogesterone
MH  - Adrenal Hyperplasia, Congenital/classification/complications/*genetics
MH  - Adrenocorticotropic Hormone
MH  - Chromosomes, Human, 6-12 and X
MH  - Female
MH  - Genetic Markers
MH  - Genotype
MH  - Haploidy
MH  - Heterozygote
MH  - Humans
MH  - Hydroxyprogesterones/blood
MH  - Male
MH  - Phenotype
MH  - Virilism/classification/etiology/*genetics
EDAT- 1985/04/01 00:00
MHDA- 1985/04/01 00:01
CRDT- 1985/04/01 00:00
PHST- 1985/04/01 00:00 [pubmed]
PHST- 1985/04/01 00:01 [medline]
PHST- 1985/04/01 00:00 [entrez]
AID - 10.1210/jcem-60-4-757 [doi]
PST - ppublish
SO  - J Clin Endocrinol Metab. 1985 Apr;60(4):757-63. doi: 10.1210/jcem-60-4-757.