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Licensed Unlicensed Requires Authentication Published by De Gruyter August 29, 2013

Steroid profiling for congenital adrenal hyperplasia by tandem mass spectrometry as a second-tier test reduces follow-up burdens in a tertiary care hospital: A retrospective and prospective evaluation

  • Ja Young Seo , Hyung-Doo Park , Jong Won Kim , Hyeon Ju Oh , Jeong Soo Yang , Yun Sil Chang , Won Soon Park EMAIL logo and Soo-Youn Lee EMAIL logo

Abstract

Background: Newborn screening for congenital adrenal hyperplasia (CAH) based on measuring 17-hydroxyprogesterone (17-OHP) by immunoassay generates a number of false-positive results, especially in preterm neonates. We applied steroid profiling by using liquid chromatography-tandem mass spectrometry (LC-MS/MS) as a second-tier test in newborns with positive CAH screening and evaluated its clinical utility in a tertiary care hospital setting.

Methods: By performing a 4-year retrospective data review, we were able to test 121 dried blood spots from newborns with positive CAH screening for 17-OHP, androstenedione and cortisol levels by LC-MS/MS. We prospectively evaluated the clinical utility of steroid profiling after the implementation of steroid profiling as a second-tier test in our routine clinical practice. During the 2-year prospective study period, 104 cases with positive initial screening by FIA were tested by LC-MS/MS. Clinical and laboratory follow-up were performed for at least 6 months.

Results: The preterm neonates accounted for 50.7% (76/150) and 70.4% (88/125) of screening-positive cases in retrospective and prospective cohorts, respectively. By applying steroid profiling as a second-tier test for positive CAH screening, we eliminated all false-positive results and decreased the median follow-up time from 75 to 8 days.

Conclusions: Our data showed that steroid profiling reduced the burden of follow-up exams by improving the positive predictive value of the CAH screening program. The use of steroid profiling as a second-tier test for positive CAH screening will improve clinical practice particularly in a tertiary care hospital setting where positive CAH screening from preterm neonates is frequently encountered.


Corresponding authors: Won Soon Park, MD, PhD, Professor, Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 135-710, Korea, Tel.: +82 2 3410 3523, Fax: +82 2 3410 0043, E-mail: ; Soo-Youn Lee, MD, PhD, Associate Professor, Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 135-710, Korea, Tel.: +82 2 3410 1834, Fax: +82 2 3410 2719, E-mail:

This study was supported by a grant from the Korea Health Technology R&D Project, Ministry of Health and Welfare, Republic of Korea (A120030).

Conflict of interests statement

No potential conflict of interest relevant to this article was reported.

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The authors stated that there are no conflicts of interest regarding the publication of this article.

Received: 2013-6-26
Accepted: 2013-8-6
Published Online: 2013-08-29
Published in Print: 2014-01-01

©2014 by Walter de Gruyter Berlin Boston

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