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

A. M. Krensky; A. M. Bongiovanni; J. Marino; J. Parks; A. Tenore

doi:10.1016/S0022-3476(77)80561-1

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

A. M. Krensky, A. M. Bongiovanni, J. Marino, J. Parks^*, A. Tenore

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Abstract

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<0.02) and 90 minutes (p<0.05) after stimulation with Cortrosyn than in controls. There is, however, considerable overlap. The results would indicate a partial enzyme deficiency in the parents of diseased subjects. There was no significant difference in the response of plasma cortisol.

Original language	English (US)
Pages (from-to)	930-933
Number of pages	4
Journal	The Journal of pediatrics
Volume	90
Issue number	6
DOIs	https://doi.org/10.1016/S0022-3476(77)80561-1
State	Published - Jun 1977

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health

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title = "Identification of heterozygote carriers of congenital adrenal hyperplasia by radioimmunoassay of serum 17-OH progesterone",

abstract = "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<0.02) and 90 minutes (p<0.05) after stimulation with Cortrosyn than in controls. There is, however, considerable overlap. The results would indicate a partial enzyme deficiency in the parents of diseased subjects. There was no significant difference in the response of plasma cortisol.",

author = "Krensky, {A. M.} and Bongiovanni, {A. M.} and J. Marino and J. Parks and A. Tenore",

note = "Funding Information: From the Department of Pediatrics, University of Pennsylvania. Supported by Research Grant HD-O0371, Training Grant AM-05197, and Clinical Research Center Grant FR-OO240 from the United States Public Health Service. *Reprint address: Endocrine Department, Children's Hospital of Philadelphia, 34th & Civic Center Blvd., Philadelphia, PA 19104.",

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doi = "10.1016/S0022-3476(77)80561-1",

language = "English (US)",

volume = "90",

pages = "930--933",

journal = "The Journal of pediatrics",

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T1 - Identification of heterozygote carriers of congenital adrenal hyperplasia by radioimmunoassay of serum 17-OH progesterone

AU - Krensky, A. M.

AU - Bongiovanni, A. M.

AU - Marino, J.

AU - Parks, J.

AU - Tenore, A.

N1 - Funding Information: From the Department of Pediatrics, University of Pennsylvania. Supported by Research Grant HD-O0371, Training Grant AM-05197, and Clinical Research Center Grant FR-OO240 from the United States Public Health Service. *Reprint address: Endocrine Department, Children's Hospital of Philadelphia, 34th & Civic Center Blvd., Philadelphia, PA 19104.

PY - 1977/6

Y1 - 1977/6

N2 - 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<0.02) and 90 minutes (p<0.05) after stimulation with Cortrosyn than in controls. There is, however, considerable overlap. The results would indicate a partial enzyme deficiency in the parents of diseased subjects. There was no significant difference in the response of plasma cortisol.

AB - 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<0.02) and 90 minutes (p<0.05) after stimulation with Cortrosyn than in controls. There is, however, considerable overlap. The results would indicate a partial enzyme deficiency in the parents of diseased subjects. There was no significant difference in the response of plasma cortisol.

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

Abstract

ASJC Scopus subject areas

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