The adjustment of 17-hydroxyprogesterone cut-off values for congenital adrenal hyperplasia neonatal screening by GSP according to gestational age and age at sampling.

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Summary of "The adjustment of 17-hydroxyprogesterone cut-off values for congenital adrenal hyperplasia neonatal screening by GSP according to gestational age and age at sampling."

Background Congenital adrenal hyperplasia (CAH) screening is facing great challenges because of a high false-positive rate and a low positive predictive value (PPV). We established and optimized 17-hydroxyprogesterone (17-OHP) cut-off values for CAH neonatal screening using a genetic screening processor (GSP) according to gestational age (GA), birth weight (BW) and age at sampling. Methods The 17-OHP concentrations in dried blood spots were measured by time-resolved immunofluorescence and were grouped in terms of GA, BW and age at sampling for 48,592 newborns. The 99.5th percentile was used to set an initial cut-off value as a reference. Results Significant differences in 17-OHP concentrations were observed among newborns with different GAs and BWs. A significant difference was observed among different sampling age groups. Finally, we defined new multitier cut-off concentrations based on GA and age at sampling. Application of the new cut-off values resulted in a 30% reduction of the positive rate and a 40% increase of the PPV. Conclusions GA, BW and sampling age time influenced the concentrations of 17-OHP. The efficiency of congenital adrenal hyperplasia screening can be substantially improved by adjusting the multitier cut-off value according to GA and age at sampling.


Journal Details

This article was published in the following journal.

Name: Journal of pediatric endocrinology & metabolism : JPEM
ISSN: 2191-0251


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Medical and Biotech [MESH] Definitions

A metabolite of 17-ALPHA-HYDROXYPROGESTERONE, normally produced in small quantities by the GONADS and the ADRENAL GLANDS, found in URINE. An elevated urinary pregnanetriol is associated with CONGENITAL ADRENAL HYPERPLASIA with a deficiency of STEROID 21-HYDROXYLASE.

An adrenal microsomal cytochrome P450 enzyme that catalyzes the 21-hydroxylation of steroids in the presence of molecular oxygen and NADPH-FERRIHEMOPROTEIN REDUCTASE. This enzyme, encoded by CYP21 gene, converts progesterones to precursors of adrenal steroid hormones (CORTICOSTERONE; HYDROCORTISONE). Defects in CYP21 cause congenital adrenal hyperplasia (ADRENAL HYPERPLASIA, CONGENITAL).

A mitochondrial cytochrome P450 enzyme that catalyzes the 11-beta-hydroxylation of steroids in the presence of molecular oxygen and NADPH-FERRIHEMOPROTEIN REDUCTASE. This enzyme, encoded by CYP11B1 gene, is important in the synthesis of CORTICOSTERONE and HYDROCORTISONE. Defects in CYP11B1 cause congenital adrenal hyperplasia (ADRENAL HYPERPLASIA, CONGENITAL).

A group of inherited disorders of the ADRENAL GLANDS, caused by enzyme defects in the synthesis of cortisol (HYDROCORTISONE) and/or ALDOSTERONE leading to accumulation of precursors for ANDROGENS. Depending on the hormone imbalance, congenital adrenal hyperplasia can be classified as salt-wasting, hypertensive, virilizing, or feminizing. The most common defect is in STEROID 21-HYDROXYLASE. Other defects occur in STEROID 11-BETA-HYDROXYLASE; STEROID 17-ALPHA-HYDROXYLASE; or 3-beta-hydroxysteroid dehydrogenase (3-HYDROXYSTEROID DEHYDROGENASES).

Neoplasm derived from displaced cells (rest cells) of the primordial ADRENAL GLANDS, generally in patients with CONGENITAL ADRENAL HYPERPLASIA. Adrenal rest tumors have been identified in TESTES; LIVER; and other tissues. They are dependent on ADRENOCORTICOTROPIN for growth and adrenal steroid secretion.

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