Genetics and biochemical variability of variants of 21 hydroxylase deficiency

In a population and family study we have examined the relationship between HLA types, classical congenital adrenal hyperplasia (CAH), and variants of 21 hydroxylase (21 OH) deficiency detected by increased blood levels of 17 hydroxyprogesterone (17 PO) in response to ACTH after overnight suppression...

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Veröffentlicht in:	Journal of medical genetics 1985-10, Vol.22 (5), p.354-360
Hauptverfasser:	Gordon, M T, Conway, D I, Anderson, D C, Harris, R
Format:	Artikel
Sprache:	eng
Schlagworte:	17-alpha-Hydroxyprogesterone Adrenal Hyperplasia, Congenital - genetics Adrenals. Adrenal axis. Renin-angiotensin system (diseases) Adrenocorticotropic hormone Adrenocorticotropic Hormone - pharmacology Age Factors Antigens Biological and medical sciences Blood levels Complement Factor B - genetics Cosyntropin - pharmacology Dexamethasone Endocrinopathies Female Gene Frequency Genetic Linkage Genetic variability Genotypes Heterozygote Histocompatibility antigen HLA HLA Antigens - genetics Humans Hydroxyprogesterones - metabolism Hyperplasia Lactoylglutathione Lyase - genetics Linkage disequilibrium Male Malignant tumors Medical sciences Pedigree Population studies Progesterone Progesterone - metabolism Research Article Steroid 21-Hydroxylase - genetics Steroid Hydroxylases - genetics
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