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
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
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
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
Gan EH, Quinton R. Physiological significance of the rhythmic secretion of hypothalamic and pituitary hormones. Prog Brain Res 2010;181:111–26.Google Scholar
Dauber A, Kellogg M, Majzoub JA. Monitoring of therapy in congenital adrenal hyperplasia. Clin Chem 2010;56:1245–51.Google Scholar
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
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
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
Hindmarsh PC, Charmandari E. Variation in absorption and half-life of hydrocortisone influence plasma cortisol concentrations. Clin Endocrinol 2015;82:557–61.Google Scholar
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
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
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
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
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
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
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.