Congenital Adrenal Hyperplasia in Children: A Pilot Study of Steroid Hormones Expressed as Sex-and Age-Related Standard Deviation Scores
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Congenital Adrenal Hyperplasia in Children : A Pilot Study of Steroid Hormones Expressed as Sex-and Age-Related Standard Deviation Scores. / Clausen, Caroline S.; Ljubicic, Marie L.; Main, Katharina M.; Andersson, Anna Maria; Petersen, Jørgen H.; Frederiksen, Hanne; Dunø, Morten; Johannsen, Trine H.; Juul, Anders.
In: Hormone Research in Paediatrics, Vol. 93, 2020, p. 226–238.Research output: Contribution to journal › Journal article › Research › peer-review
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TY - JOUR
T1 - Congenital Adrenal Hyperplasia in Children
T2 - A Pilot Study of Steroid Hormones Expressed as Sex-and Age-Related Standard Deviation Scores
AU - Clausen, Caroline S.
AU - Ljubicic, Marie L.
AU - Main, Katharina M.
AU - Andersson, Anna Maria
AU - Petersen, Jørgen H.
AU - Frederiksen, Hanne
AU - Dunø, Morten
AU - Johannsen, Trine H.
AU - Juul, Anders
PY - 2020
Y1 - 2020
N2 - Introduction: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease predominantly caused by 21-hydroxylase deficiency. Clinical management in children includes glucocorticoid and often mineralocorticoid treatment alongside monitoring outcomes such as an-Thro-po-metry, pubertal status, blood pressure, and biochemistry. Objective: The objective of this pilot study was to present the use of 17-hydroxyprogesterone (17-OHP) and androgen metabolites expressed as standard deviation (SD) scores rather than actual concentrations as a tool in the management of children with CAH as well as in research settings. Methods: The study was a retrospective, longitudinal study that took place in a single, tertiary center and included 38 children and adolescents aged 3-18 years with CAH due to 21-hydroxylase deficiency. Biochemical measurements of 17-OHP, androstenedione, dehydroepiandrosterone-sulphate (DHEAS), and testosterone using liquid chromatography-Tandem mass spectrometry were expressed as SD scores, and outcomes such as genotype, height, bone maturation, blood pressure, and treatment doses were extracted from patient files. Results: The majority (86%) of CAH patients had 17-OHP measurements above +2 SD during standard hydrocortisone therapy, receiving an average daily hydrocortisone dose of 12.6 mg/m2. Androstenedione concentrations were mostly within ±2 SD, whereas DHEAS values were below-2 SD in 47% of patients. Conclusions: Applying sex-and age-related SD scores to 17-OHP and androgen metabolite concentrations allows for monitoring of hydrocortisone treatment independent of age, sex, assay, and center. We propose that 17-OHP and androgen metabolites expressed as SD scores be implemented as a unifying tool that simplifies research and, in the future, also optimal management of treatment.
AB - Introduction: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease predominantly caused by 21-hydroxylase deficiency. Clinical management in children includes glucocorticoid and often mineralocorticoid treatment alongside monitoring outcomes such as an-Thro-po-metry, pubertal status, blood pressure, and biochemistry. Objective: The objective of this pilot study was to present the use of 17-hydroxyprogesterone (17-OHP) and androgen metabolites expressed as standard deviation (SD) scores rather than actual concentrations as a tool in the management of children with CAH as well as in research settings. Methods: The study was a retrospective, longitudinal study that took place in a single, tertiary center and included 38 children and adolescents aged 3-18 years with CAH due to 21-hydroxylase deficiency. Biochemical measurements of 17-OHP, androstenedione, dehydroepiandrosterone-sulphate (DHEAS), and testosterone using liquid chromatography-Tandem mass spectrometry were expressed as SD scores, and outcomes such as genotype, height, bone maturation, blood pressure, and treatment doses were extracted from patient files. Results: The majority (86%) of CAH patients had 17-OHP measurements above +2 SD during standard hydrocortisone therapy, receiving an average daily hydrocortisone dose of 12.6 mg/m2. Androstenedione concentrations were mostly within ±2 SD, whereas DHEAS values were below-2 SD in 47% of patients. Conclusions: Applying sex-and age-related SD scores to 17-OHP and androgen metabolite concentrations allows for monitoring of hydrocortisone treatment independent of age, sex, assay, and center. We propose that 17-OHP and androgen metabolites expressed as SD scores be implemented as a unifying tool that simplifies research and, in the future, also optimal management of treatment.
U2 - 10.1159/000509079
DO - 10.1159/000509079
M3 - Journal article
C2 - 33017824
AN - SCOPUS:85092799873
VL - 93
SP - 226
EP - 238
JO - Hormone Research in Paediatrics
JF - Hormone Research in Paediatrics
SN - 1663-2818
ER -
ID: 250914672