Age-related changes in adrenal size during the first year of life in normal newborns, infants and patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: comparison of ultrasound and hormonal parameters

Abstract Context Youth with classical congenital adrenal hyperplasia (CAH) exhibit abnormal adrenomedullary function with decreased epinephrine levels noted in newborns and young infants. Little is known about how this relates to morbidity during the first year of life. Objective To study plasma epinephrine levels in infants with classical CAH and examine the clinical significance of epinephrine deficiency in the first year of life. Design Prospective cohort study. Setting Study participants were recruited from a pediatric tertiary care center. Patients or Other Participants 36 infants with classical CAH due to 21-hydroxylase deficiency and 27 age-matched unaffected controls with congenital hypothyroidism. Main Outcome Measures Plasma epinephrine levels (N=27), CYP21A2 genotype (N=15), and incidence of acute illnesses from birth to 1 year of age (N=28). Results Epinephrine levels in CAH infants independently predicted illness incidence in the first year of life (β=-0.018, R=-0.45, P=0.02) and were negatively correlated with 17-hydroxyprogesterone at diagnosis (R=-0.51, P=0.007). Infants with salt-wasting CAH exhibited lower epinephrine levels as newborns than simple-virilizing infants (P=0.02). CAH patients had lower epinephrine as newborns than controls (P=0.007) and showed decreases in epinephrine from birth to 1 year of age (P=0.04). Null genotype was associated with lower newborn epinephrine and more illness in the first year of life, compared to less severe mutation categories. Conclusions Lower epinephrine levels are associated with increased risk of illness among CAH infants. While not currently part of clinical standard of care, measuring epinephrine levels and assessing genotype may help predict acute illness in the first year of life.

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Blood Pressure in the First Year of Life in Children with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency: A Pilot Study

Hormone Research in Paediatrics ◽

10.1159/000308891 ◽

2010 ◽

Vol 74 (5) ◽

pp. 328-332 ◽

Cited By ~ 7

Author(s):

Christiaan F. Mooij ◽

Livia Kapusta ◽

Barto J. Otten ◽

Hedi L. Claahsen-van der Grinten

Keyword(s):

Blood Pressure ◽

Pilot Study ◽

Congenital Adrenal Hyperplasia ◽

First Year ◽

Adrenal Hyperplasia ◽

Hydroxylase Deficiency ◽

21 Hydroxylase Deficiency ◽

First Year Of Life

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AGE-RELATED CHANGES IN ADRENAL SIZE DURING THE FIRST YEAR OF LIFE: COMPARISON OF ULTRASOUND EVALUATION AND DHEA-S IN NORMAL INFANTS AND A NEWBORN WITH CONGENITAL ADRENAL HYPERPLASIA (CAH)

Pediatric Research ◽

10.1203/00006450-198611000-00053 ◽

1986 ◽

Vol 20 (11) ◽

pp. 1182-1182

Author(s):

B P Hauffa ◽

D Menzel

Keyword(s):

Congenital Adrenal Hyperplasia ◽

First Year ◽

Adrenal Hyperplasia ◽

Ultrasound Evaluation ◽

Age Related ◽

First Year Of Life ◽

Age Related Changes

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Congenital Adrenal Hyperplasia in Children: A Pilot Study of Steroid Hormones Expressed as Sex- and Age-Related Standard Deviation Scores

Hormone Research in Paediatrics ◽

10.1159/000509079 ◽

2020 ◽

Vol 93 (4) ◽

pp. 226-238

Author(s):

Caroline S. Clausen ◽

Marie L. Ljubicic ◽

Katharina M. Main ◽

Anna-Maria Andersson ◽

Jørgen H. Petersen ◽

...

Keyword(s):

Blood Pressure ◽

Standard Deviation ◽

Pilot Study ◽

Congenital Adrenal Hyperplasia ◽

Adrenal Hyperplasia ◽

Hydroxylase Deficiency ◽

Bone Maturation ◽

Age Related ◽

Tertiary Center ◽

21 Hydroxylase Deficiency

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 anthropometry, 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.

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