Jump to ContentJump to Main Navigation
Show Summary Details
More options …

Journal of Pediatric Endocrinology and Metabolism

Editor-in-Chief: Kiess, Wieland

Ed. by Bereket, Abdullah / Darendeliler, Feyza / Dattani, Mehul / Gustafsson, Jan / Luo, Fei Hong / Mericq, Veronica / Toppari, Jorma

IMPACT FACTOR 2018: 1.239

CiteScore 2018: 1.22

SCImago Journal Rank (SJR) 2018: 0.507
Source Normalized Impact per Paper (SNIP) 2018: 0.562

See all formats and pricing
More options …
Volume 30, Issue 1


Monitoring steroid replacement therapy in children with congenital adrenal hyperplasia

Niels H. Birkebaek
  • Corresponding author
  • Department of Paediatrics, Aarhus University Hospital, 8200 Aarhus N, Denmark, Phone: +45 78451423
  • Email
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ David M. Hougaard
  • Department of Congenital Disorders, Center of Neonatal Screening, Statens Serum Institut, Artillerivej 5, 2300 S, Copenhagen, Denmark
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Arieh S. Cohen
  • Department of Congenital Disorders, Center of Neonatal Screening, Statens Serum Institut, Artillerivej 5, 2300 S, Copenhagen, Denmark
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
Published Online: 2016-12-15 | DOI: https://doi.org/10.1515/jpem-2016-0203



The objective of this study was to compare the analysis of 17-hydroxyprogesterone (17-OHP) by radio-immunoassay (RIA) in serum with analysis by liquid chromatography tandem mass spectrometry (LC-MS/MS) on dried blood spot samples (DBSS) for monitoring therapy in children with congenital adrenal hyperplasia (CAH), and to investigate differences in 17-OHP values during the day.


Fourteen children (8 females), median age 4.2 (0.3–16.0) years, were studied. Serum samples and DBSS were drawn before hydrocortisone dosing.


17-OHP by LC-MS/MS in DBSS were highly correlated to 17-OHP by RIA in serum, r=0.956, p<0.01. A total of 26 three-time-point series were investigated. Using only the afternoon 17-OHP values to determine the hydrocortisone doses would have led to overdosing seven times and underdosing six times.


Good agreement was demonstrated between 17-OHP determination by RIA in serum and LC-MS/MS on DBSS. Multiple 17-OHP measurements per day are required to ensure sufficient hydrocortisone dose adjustment.

Keywords: 17-hydroxyprogesterone; adrenal; congenital; hyperplasia; LC-MS/MS


  • 1.

    Speiser PW, Azziz R, Baskin LS, Ghizzoni L, Hensle TW, et al. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an endocrine society clinical practice guideline. J Clin Endocrinol Metab 2010;95:4133–66.Google Scholar

  • 2.

    Turcu AF, Rege J, Chomic R, Liu J, Nishimoto HK, et al. Profiles of 21-carbon steroids in 21-hydroxylase deficiency. J Clin Endocrinol Metab 2015;100:2283–90.Google Scholar

  • 3.

    New MI, Abrahama M, Gonzaleza B, Dumic M, Razzaghy-Azar M, et al. Genotype–phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency. Proc Natl Acad Sci USA 2013;110:2611–6.Google Scholar

  • 4.

    Kim MS, Ryabets-Lienhard A, Geffner ME. Management of congenital adrenal hyperplasia in childhood. Curr Opin Endocrinol Diabetes Obes 2012;19:483–8.Google Scholar

  • 5.

    Gan EH, Quinton R. Physiological significance of the rhythmic secretion of hypothalamic and pituitary hormones. Prog Brain Res 2010;181:111–26.Google Scholar

  • 6.

    Dauber A, Kellogg M, Majzoub JA. Monitoring of therapy in congenital adrenal hyperplasia. Clin Chem 2010;56:1245–51.Google Scholar

  • 7.

    Lacey JM, Minutti CZ, Magera MJ, Tauscher AL, Casetta B, et al. Improved specificity of newborn screening for congenital adrenal hyperplasia by second-tier steroid profiling using tandem mass spectrometry. Clin Chem 2004;50:621–5.Google Scholar

  • 8.

    Faurschou S, Mouritsen A, Johannsen TH, Hougaard DM, Cohen A, et al. Hormonal disturbances due to severe and mild forms of congenital adrenal hyperplasia are already detectable in neonatal life. Acta Paediatr 2015;104:e57–62.Google Scholar

  • 9.

    Higashi T, Suzuki M, Inagaki S, Inagaki S, Min JZ, et al. A specific LC/ESI- MS/MS method for determination of 25-hydroxyvitamin D3 in neonatal dried blood spots containing a potential interfering metabolite, 3-epi-25-hydroxyvitamin D3. J Sep Sci 2011;34:725–32.Google Scholar

  • 10.

    Hindmarsh PC, Charmandari E. Variation in absorption and half-life of hydrocortisone influence plasma cortisol concentrations. Clin Endocrinol 2015;82:557–61.Google Scholar

  • 11.

    Hindmarsh PC. The child with difficult to control congenital adrenal hyperplasia: is there a place for continuous subcutaneous hydrocortisone therapy. Clin Endocrinol 2014;81:15–8.Google Scholar

  • 12.

    Frisch H, Parth K, Schober E, Swoboda W. Circadian patterns of plasma cortisol, 17- Hydroxyprogesterone, and testosterone in congenital adrenal hyperplasia. Arch Dis Child 1981;56:208–13.Google Scholar

  • 13.

    Shimon I, Kaiserman I, Sack J. Home monitoring of 17a-hydroxyprogesterone levels by filter paper blood spots in patients with 21 hydroxylase deficiency. Horm Res 1995;44:247–52.Google Scholar

  • 14.

    Bode HH, Rivkees SA, Cowley DM, Pardy K, Johnsons S. Home monitoring of 17-hydroxyprogesterone levels in congenital adrenal hyperplasia with filter paper blood samples. J Paediatr 1999;134:185–9.Google Scholar

  • 15.

    Wieacker I, Peter M, Borucki K, Empting S, Roehl FW, et al. Therapy monitoring in congenital adrenal hyperplasia by dried blood samples. J Pediatr Endocr Met 2015;28:867–71.Google Scholar

  • 16.

    Sarafoglou K, Himes JH, Lacey JM, Netzel BC, Singh RJ, et al. Comparison of multiple steroid concentrations in serum and dried blood spots throughout the day of patients with congenital adrenal hyperplasia. Horm Res Paediatri 2011;75:19–25.Google Scholar

About the article

Received: 2016-05-22

Accepted: 2016-11-03

Published Online: 2016-12-15

Published in Print: 2017-01-01

Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.

Research funding: None declared.

Employment or leadership: None declared.

Honorarium: None declared.

Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis and interpretation of data; in the writing of the report or in the decision to submit the report for publication.

Citation Information: Journal of Pediatric Endocrinology and Metabolism, Volume 30, Issue 1, Pages 85–88, ISSN (Online) 2191-0251, ISSN (Print) 0334-018X, DOI: https://doi.org/10.1515/jpem-2016-0203.

Export Citation

©2017 Walter de Gruyter GmbH, Berlin/Boston.Get Permission

Citing Articles

Here you can find all Crossref-listed publications in which this article is cited. If you would like to receive automatic email messages as soon as this article is cited in other publications, simply activate the “Citation Alert” on the top of this page.

Eric Pussard, Simon Travers, Claire Bouvattier, Qiong-Yao Xue, Claudine Cosson, Say Viengchareun, Laetitia Martinerie, and Marc Lombès
The Journal of Steroid Biochemistry and Molecular Biology, 2019, Page 105553

Comments (0)

Please log in or register to comment.
Log in