SERUM ANDROGEN CONCENTRATIONS IN NEONATES AND YOUNG INFANTS WITH CONGENITAL ADRENAL HYPERPLASIA DUE TO 21-HYDROXYLASE DEFICIENCY

The urinary excretion of two Δ5-3β-OH, 16α-hydnoxysteroids, 16-OH-pregnenolone (16-OH-PG), and 16-OH-dehydroepiandrosterone (16-OH-DHA), has been determined in 18 patients with the C-21 hydroxylase deficiency type of congenital adrenal hyperplasia (CAH). The excretion of 16-OH-PG was generally above the normal range in young infants, fell over the first 4 months and was present in only one of eight control urine samples from patients with CAH over 5 months of age. The excretion of 16-OH-DHA was generally within the normal range in the young infants, fell over the first 4 months, and was not found in urine samples from CAH patients over 5 months of age. ACTH was administered to eight of the CAH patients and caused an increased excretion of both steroids when they were present in control urine samples. Of the five patients receiving ACTH who had neither steroid present in control urine, 16-OH-PG appeared in the two youngest but 16-OH-DHA appeared in none. The ratio of urinary 16-OH-PG/16-OH-DHA was significantly greater in the CAH patients than in the endocninologically normal patients. It was concluded that the pattern of excretion of 16-OH-PG and i6-OH-DHA in patients with CAH is an exaggeration of the normal infant pattern caused by the endogenous ACTH stimulation. The possible role of the fetal zone of the adrenal cortex in the secretion of these steroids was considered but the available evidence indicated that the permanent cartical zone was the site of origin.

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Low Adrenomedullary Function Predicts Acute Illness in Infants with Classical Congenital Adrenal Hyperplasia

The Journal of Clinical Endocrinology & Metabolism ◽

10.1210/clinem/dgab600 ◽

2021 ◽

Author(s):

Jonathan Weber ◽

Veeraya K Tanawattanacharoen ◽

Amy Seagroves ◽

Mark C Liang ◽

Christina M Koppin ◽

...

Keyword(s):

Congenital Adrenal Hyperplasia ◽

Acute Illness ◽

First Year ◽

Plasma Epinephrine ◽

Adrenal Hyperplasia ◽

Hydroxylase Deficiency ◽

Young Infants ◽

Increased Risk ◽

21 Hydroxylase Deficiency ◽

First Year Of Life

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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