EVIDENCE FOR PARTIAL 21-HYDROXYLASE DEFICIENCY AMONG HETEROZYGOTE CARRIERS OF CONGENITAL ADRENAL HYPERPLASIA
| العنوان: | EVIDENCE FOR PARTIAL 21-HYDROXYLASE DEFICIENCY AMONG HETEROZYGOTE CARRIERS OF CONGENITAL ADRENAL HYPERPLASIA |
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| المؤلفون: | Frank J. Gareis, Peter A. Lee |
| المصدر: | The Journal of Clinical Endocrinology & Metabolism. 41:415-418 |
| بيانات النشر: | The Endocrine Society, 1975. |
| سنة النشر: | 1975 |
| مصطلحات موضوعية: | Adult, Male, Heterozygote, endocrine system, Synthetic ACTH, medicine.medical_specialty, Adrenocortical Hyperfunction, Time Factors, Enzyme deficiency, Hydrocortisone, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Biochemistry, Endocrinology, Adrenocorticotropic Hormone, Internal medicine, Infusion Procedure, Cosyntropin, Hydroxyprogesterones, medicine, Humans, Congenital adrenal hyperplasia, Child, Acth stimulation, Adrenal Hyperplasia, Congenital, biology, business.industry, Biochemistry (medical), 21-Hydroxylase, Heterozygote advantage, medicine.disease, Pedigree, Steroid Hydroxylases, biology.protein, Female, business, hormones, hormone substitutes, and hormone antagonists |
| الوصف: | 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. |
| تدمد: | 1945-7197 0021-972X |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::45a2cfc00037bb748f2c9091b2a15389Test https://doi.org/10.1210/jcem-41-2-415Test |
| رقم الانضمام: | edsair.doi.dedup.....45a2cfc00037bb748f2c9091b2a15389 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 19457197 0021972X |
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