Identification of heterozygote carriers of congenital adrenal hyperplasia by radioimmunoassay of serum 17-OH progesterone

Identification of heterozygote carriers of congenital adrenal hyperplasia by radioimmunoassay of serum 17-OH progesterone

The response to administered adrenocorticotropin (ACTH, Cortrosyn) of 26 heterozygotes (parents of children with adrenal 21-hydroxylase deficiency) and of 14 controls are compared. The mean plasma levels of 4-pregnene-3, 20-dione-17, 21-diol (17-OH progesterone) were significantly greater in the het...

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Veröffentlicht in:The Journal of pediatrics 1977-06, Vol.90 (6), p.930-933
Hauptverfasser: Krensky, A.M., Bongiovanni, A.M., Marino, J., Parks, J., Tenore, A.
Format: Artikel
Sprache:eng
Schlagworte:
Adrenocortical Hyperfunction - blood
Adrenocortical Hyperfunction - genetics
Female
Heterozygote
Humans
Hydrocortisone - blood
Hydroxyprogesterones - blood
Male
Radioimmunoassay
Steroid Hydroxylases - deficiency
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Zusammenfassung:The response to administered adrenocorticotropin (ACTH, Cortrosyn) of 26 heterozygotes (parents of children with adrenal 21-hydroxylase deficiency) and of 14 controls are compared. The mean plasma levels of 4-pregnene-3, 20-dione-17, 21-diol (17-OH progesterone) were significantly greater in the heterozygotes 60 minutes (p
ISSN:0022-3476
1097-6833
DOI:10.1016/S0022-3476(77)80561-1