PMID- 6286442
OWN - NLM
STAT- MEDLINE
DCOM- 19821029
LR  - 20180215
IS  - 0301-0163 (Print)
IS  - 0301-0163 (Linking)
VI  - 16
IP  - 3
DP  - 1982
TI  - Heterozygotes and cryptic patients in families of patients with congenital 
      adrenal hyperplasia (21-hydroxylase deficiency). HLA and glyoxalase I typing and 
      hormonal studies.
PG  - 151-9
AB  - In a group of 18 unrelated Danish children with 21-hydroxylase deficiency (21-OH 
      def.), human leukocyte antigen (HLA) typing revealed a significant increase of 
      Bw47 and a significant decrease of B8. HLA studies of the families of 14 probands 
      predicted among the siblings 11 heterozygote carriers and 3 genetically 
      unaffected. Glyoxalase studies showed a recombination fraction of 8%. 
      ACTH-stimulated 17-OH progesterone is the only hormone value useful in the 
      discrimination between heterozygotes and normals. Two families are described in 
      detail. In one family, one of two HLA-identical brothers had classical virilizing 
      congenital adrenal hyperplasia (CAH), while the other was a normal boy without 
      21-OH def. In another family with 3 girls, one had classical, salt-wasting CAH, 
      one had "late onset' CAH, and the third sister and the father shared the HLA-B14 
      antigen and were shown to have "cryptic' 21-OH def.
FAU - Petersen, K E
AU  - Petersen KE
FAU - Svejgaard, A
AU  - Svejgaard A
FAU - Nielsen, M D
AU  - Nielsen MD
FAU - Dissing, J
AU  - Dissing J
LA  - eng
PT  - Journal Article
PL  - Switzerland
TA  - Horm Res
JT  - Hormone research
JID - 0366126
RN  - 0 (HLA Antigens)
RN  - 0 (Hydroxyprogesterones)
RN  - 9002-60-2 (Adrenocorticotropic Hormone)
RN  - EC 1.14.- (Steroid Hydroxylases)
RN  - EC 4.- (Lyases)
RN  - EC 4.4.1.5 (Lactoylglutathione Lyase)
SB  - IM
MH  - Adolescent
MH  - *Adrenal Hyperplasia, Congenital/*genetics
MH  - Adrenocorticotropic Hormone
MH  - Child
MH  - Child, Preschool
MH  - Female
MH  - HLA Antigens/*genetics
MH  - *Heterozygote
MH  - Humans
MH  - Hydroxyprogesterones/blood
MH  - Lactoylglutathione Lyase/*genetics
MH  - Lyases/*genetics
MH  - Male
MH  - Pedigree
MH  - Steroid Hydroxylases/*deficiency
EDAT- 1982/01/01 00:00
MHDA- 1982/01/01 00:01
CRDT- 1982/01/01 00:00
PHST- 1982/01/01 00:00 [pubmed]
PHST- 1982/01/01 00:01 [medline]
PHST- 1982/01/01 00:00 [entrez]
AID - 10.1159/000179496 [doi]
PST - ppublish
SO  - Horm Res. 1982;16(3):151-9. doi: 10.1159/000179496.