Evidence for partial 21-hydroxylase deficiency among heterozygote carriers of congenital adrenal hyperplasia

Concentrations of 17-hydroxyprogesterone are significantly greater in heterozygous carriers of CVAH than in controls 30 and 60 minutes after an infusion of 25 units of synthetic ACTH 1-24 and 2 hours after beginning a 4-hour infusion of 50 units ACTH. The majority of carriers were clearly above the...

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Bibliographic Details
Published inThe journal of clinical endocrinology and metabolism Vol. 41; no. 2; p. 415
Main Authors Lee, P A, Gareis, J F
Format Journal Article
LanguageEnglish
Published United States 01.08.1975
Subjects
Adrenal Hyperplasia, Congenital
Adrenocortical Hyperfunction - metabolism
Adrenocorticotropic Hormone - pharmacology
Adult
Child
Female
Heterozygote
Humans
Hydrocortisone - blood
Hydroxyprogesterones - blood
Male
Pedigree
Steroid Hydroxylases - metabolism
Time Factors
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Summary:Concentrations of 17-hydroxyprogesterone are significantly greater in heterozygous carriers of CVAH than in controls 30 and 60 minutes after an infusion of 25 units of synthetic ACTH 1-24 and 2 hours after beginning a 4-hour infusion of 50 units ACTH. The majority of carriers were clearly above the control range at these collection times. Hence, heterozygous carriers have a partial enzyme deficiency although all cannot be diagnosed based on 17-hydroxyprogesterone levels after ACTH stimulation.
ISSN:0021-972X
DOI:10.1210/jcem-41-2-415