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

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.

THE EXCRETION OF TWO Δ5-3β-OH, 16α-HYDROXYSTEROIDS BY PATIENTS WITH CONGENITAL ADRENAL HYPERPLASIA

PEDIATRICS ◽  
1965 ◽  
Vol 36 (4) ◽  
pp. 583-591
Author(s):  
John W. Reynolds
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Urine Samples ◽  
Normal Infant ◽  
Adrenal Hyperplasia ◽  
Normal Range ◽  
Acth Stimulation ◽  
Hydroxylase Deficiency ◽  
Young Infants ◽  
Deficiency Type ◽  
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.

scholarly journals Cardiovascular risk, metabolic profile, and body composition in adult males with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

2011 ◽  
Vol 164 (2) ◽  
pp. 285-293 ◽  
Author(s):  
Henrik Falhammar ◽  
Helena Filipsson Nyström ◽  
Anna Wedell ◽  
Marja Thorén
Keyword(s):  
Cardiovascular Risk ◽  
Congenital Adrenal Hyperplasia ◽  
Older Patients ◽  
Liver Function Tests ◽  
Oral Glucose ◽  
Adult Males ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Increased Risk ◽  
21 Hydroxylase Deficiency

ObjectiveLifelong glucocorticoid therapy in patients with congenital adrenal hyperplasia (CAH) or the disease per se may result in increased cardiovascular risk. We therefore investigated cardiovascular and metabolic risk profiles in adult CAH males.Subjects and methodsWe compared CAH males (n=30), 19–67 years old, with age- and sex-matched controls (n=32). Subgroups of different ages (<30 years or older) and CYP21A2 genotypes (null, I2splice, and I172N as the mildest mutation) were studied. Anthropometry, fat and lean mass measured by dual-energy X-ray absorptiometry, lipids, liver function tests, homocysteine, lipoprotein-(a), glucose and insulin during an oral glucose tolerance test (OGTT), urine albumin, adrenal hormones, and 24 h ambulatory blood pressure measurements were studied.ResultsCAH males were shorter. Waist/hip ratio and fat mass were higher in older patients and the I172N group. Heart rate was faster in older patients, the I2splice, and I172N groups. Insulin levels were increased during OGTT in all patients and in the I172N group. γ-glutamyl transpeptidase was increased in older patients and in the I172N group. Testosterone was lower in older patients. Homocysteine was lower in younger patients, which may be cardioprotective. The cardiovascular risk seemed higher with hydrocortisone/cortisone acetate than prednisolone. Urinary epinephrine was lower in all groups of patients except in I172N.ConclusionsIndications of increased risk were found in CAH males ≥30 years old and in the I172N group. In contrast, younger CAH males did not differ from age-matched controls. This is likely to reflect a better management in recent years.

scholarly journals A Case Report on Congenital Adrenal Hyperplasia, Varicella Zoster Infection, Varicella Encephalopathy & Cerebellitis

2021 ◽  
Vol 6 (2) ◽  
pp. 308-311
Author(s):  
Aswathy M Shaji ◽  
A. Priya ◽  
S Suwitha
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Neuronal Damage ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Cyp21a2 Gene ◽  
Varicella Zoster ◽  
Adrenal Steroidogenesis ◽  
Increased Risk ◽  
21 Hydroxylase Deficiency ◽  
Varicella Zoster Infection

Congenital adrenal hyperplasia (CAH) comprises a family of autosomal recessive disorder and it will disrupt adrenal steroidogenesis. The most common form of CAH is due to 21-hydroxylase deficiency associated with mutations in the cyp21a2 gene which is located at chromosome 6p21. The clinical features associated with this adrenal steroidogenesis represent a clinical spectrum reflecting to the consequences of the specific mutations. Treatment goals include normal linear growth velocity and “on-time” puberty in affected children. [1] Infection with Varicella zoster virus (vzv) causes chickenpox means Varicella that can be severe in immunocompromised individuals, infants and adults. The primary infection is followed by latency in ganglionic neurons. During this time, no virus particles will produce and no obvious neuronal damage occurs. Reactivation of virus leads to virus replication, which will causes zoster (shingles) in tissues innervated by the involved neurons, inflammation and cell death [2]. Potential complications of this infection are involved in the central nervous system causing encephalitis. An increased risk of this complication is associated with the immunocompromised patient. [3] Keywords: congenital adrenal hyperplasia, varicella zoster infection, varicella encephalopathy, cerebellitis.

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