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

2010 ◽  
Vol 74 (5) ◽  
pp. 328-332 ◽  
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

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.

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

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

<b><i>Introduction:</i></b> 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. <b><i>Objective:</i></b> 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. <b><i>Methods:</i></b> 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. <b><i>Results:</i></b> 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/m<sup>2</sup>. Androstenedione concentrations were mostly within ±2 SD, whereas DHEAS values were below –2 SD in 47% of patients. <b><i>Conclusions:</i></b> 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.

Congenital adrenal hyperplasia due to 11 β-hydroxylase deficiency: final diagnosis in adult age in three patients

1980 ◽  
Vol 93 (1) ◽  
pp. 94-99 ◽  
Author(s):  
A. Glenthøj ◽  
M. Damkjær Nielsen ◽  
J. Starup
Keyword(s):  
Blood Pressure ◽  
Congenital Adrenal Hyperplasia ◽  
Male Patient ◽  
Antihypertensive Drugs ◽  
Correct Diagnosis ◽  
Additional Treatment ◽  
Cortisone Acetate ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
21 Hydroxylase Deficiency

Abstract. Three patients, one male and two females, in whom the diagnosis of congenital adrenal hyperplasia (CAH) was made in early childhood were studied. The two females were treated with cortisone acetate from the age of 2 and 4 years, respectively, and later they both proved to be fertile. The male patient was only treated sporadically with cortisone acetate until the age of 33 years. He also became fertile when a more consistent treatment with prednisolone was started. The two female patients had a slight hypertension in childhood before the treatment was initiated but became normotensive on treatment. The male patient revealed a blood pressure of 180/130 mmHg at the age of 33 years. In this patient the treatment with prednisolone produced a moderate decrease in the blood pressure, but additional treatment with antihypertensive drugs was needed to make him normotensive. All three patients were originally thought to have a 21-hydroxylase deficiency and the correct diagnosis of an 11β-hydroxylase deficiency was first established between the age of 26 and 33 years. It is concluded that an early diagnosis and an uninterrupted treatment with glucocorticoids are important in order to prevent hypertension and infertility problems.

A pilot study on newborn screening for congenital adrenal hyperplasia in Beijing

2019 ◽  
Vol 32 (3) ◽  
pp. 253-258 ◽  
Author(s):  
Li-fei Gong ◽  
Xiao Gao ◽  
Nan Yang ◽  
Jin-qi Zhao ◽  
Hai-he Yang ◽  
...  
Keyword(s):  
Pilot Study ◽  
Congenital Adrenal Hyperplasia ◽  
Newborn Screening ◽  
Clinical Characteristics ◽  
Skin Pigmentation ◽  
Clinical Signs ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Feeding Difficulties ◽  
21 Hydroxylase Deficiency

Abstract Background A provisionary screening programme for 21-hydroxylase deficiency (21-OHD) was initiated in Beijing in 2014. The aim of this study was to investigate the incidence and the associated clinical characteristics of neonatal congenital adrenal hyperplasia (CAH) in Beijing and to provide evidence-based guidance for its application in CAH screening. Methods Live birth newborns (n=44,360) were screened for CAH in Beijing from July 2014 to April 2018. The levels of 17-hydroxyprogesterone (17-OHP) in the blood were estimated using the time-resolved fluoroimmunoassay. Neonates with a positive result and a level >30 nmol/L of 17-OHP were called for a retest. CAH was diagnosed based on further laboratory findings combined with clinical signs, such as weight loss, feeding difficulties, skin pigmentation, and atypical genitalia. Through a review of medical records, the clinical findings including molecular data were reported. Results Of the 44,360 neonates screened, 280 cases were deemed positive. Of these, 203 neonates were recalled for further tests and six patients (three boys and three girls) were diagnosed with CAH. Five cases of classic salt-wasting and one case of simple virilising 21-OHD were identified. The incidence of CAH in Beijing was 1:7393. The most frequent 21-OHD mutation was c.293-13C/A>G. Conclusions The incidence of CAH in Beijing was higher than the national average. The results support the need for neonatal CAH screening in Beijing. This pilot study demonstrates the clinical characteristics of 21-OHD through newborn screening. Early detection and treatment through neonatal screening may reduce mortality rates and optimise developmental outcomes.

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