Congenital Adrenal Hyperplasia in Children : A Pilot Study of Steroid Hormones Expressed as Sex- and Age-Related Standard Deviation Scores
© 2020 S. Karger AG, Basel..
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.
| Errataetall: |
ErratumIn: Horm Res Paediatr. 2022;95(1):100. - PMID 37497938 |
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| Medienart: |
E-Artikel |
| Erscheinungsjahr: |
2020 |
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| Erschienen: |
2020 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:93 |
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| Enthalten in: |
Hormone research in paediatrics - 93(2020), 4 vom: 20., Seite 226-238 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Clausen, Caroline S [VerfasserIn] |
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| Links: |
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| Themen: |
21-Hydroxylase deficiency |
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| Anmerkungen: |
Date Completed 13.08.2021 Date Revised 27.07.2023 published: Print-Electronic ErratumIn: Horm Res Paediatr. 2022;95(1):100. - PMID 37497938 Citation Status MEDLINE |
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| doi: |
10.1159/000509079 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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NLM315880724 |
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| 100 | 1 | |a Clausen, Caroline S |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Congenital Adrenal Hyperplasia in Children |b A Pilot Study of Steroid Hormones Expressed as Sex- and Age-Related Standard Deviation Scores |
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| 500 | |a Date Completed 13.08.2021 | ||
| 500 | |a Date Revised 27.07.2023 | ||
| 500 | |a published: Print-Electronic | ||
| 500 | |a ErratumIn: Horm Res Paediatr. 2022;95(1):100. - PMID 37497938 | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a © 2020 S. Karger AG, Basel. | ||
| 520 | |a 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 | ||
| 520 | |a 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 | ||
| 520 | |a 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 | ||
| 520 | |a 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 | ||
| 520 | |a 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 | ||
| 650 | 4 | |a Journal Article | |
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| 650 | 4 | |a Adrenal gland | |
| 650 | 4 | |a Adrenal metabolites | |
| 650 | 4 | |a Congenital adrenal hyperplasia | |
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| 700 | 1 | |a Main, Katharina M |e verfasserin |4 aut | |
| 700 | 1 | |a Andersson, Anna-Maria |e verfasserin |4 aut | |
| 700 | 1 | |a Petersen, Jørgen H |e verfasserin |4 aut | |
| 700 | 1 | |a Frederiksen, Hanne |e verfasserin |4 aut | |
| 700 | 1 | |a Duno, Morten |e verfasserin |4 aut | |
| 700 | 1 | |a Johannsen, Trine H |e verfasserin |4 aut | |
| 700 | 1 | |a Juul, Anders |e verfasserin |4 aut | |
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