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.

Growth curves for congenital adrenal hyperplasia from a national retrospective cohort

2016 ◽  
Vol 29 (12) ◽  
Author(s):  
Patricia Bretones ◽  
Benjamin Riche ◽  
Emmanuel Pichot ◽  
Michel David ◽  
Pascal Roy ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Adult Height ◽  
Bone Age ◽  
Strong Impact ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Bone Maturation ◽  
The Mean ◽  
Puberty Onset ◽  
21 Hydroxylase Deficiency

Abstract Background: In congenital adrenal hyperplasia (CAH), adjusting hydrocortisone dose during childhood avoids reduced adult height. However, there are currently no CAH-specific charts to monitor growth during treatment. Our objective was to elaborate growth reference charts and bone maturation data for CAH patients. Methods: We conducted a retrospective observational cohort study, in 34 French CAH centers. Patients were 496 children born 1970–1991 with genetically proven 21-hydroxylase deficiency. Their growth and bone maturation data were collected until age 18 together with adult height, puberty onset, parental height, and treatment. The mean (SD) heights were modeled from birth to adulthood. The median±1 SD and ±2 SDs model-generated curves were compared with the French references. A linear model for bone maturation and a logistic regression model for the probability of short adult height were built. Results: Growth charts were built by sex for salt wasting (SW) and simple virilizing (SV) children treated before 1 year of age. In girls and boys, growth was close to that of the general French population up to puberty onset. There was almost no pubertal spurt and the mean adult height was shorter than that of the general population in girls (−1.2 SD, 156.7 cm) and boys (−1.0 SD, 168.8 cm). Advanced bone age at 8 years had a strong impact on the risk of short adult height (OR: 4.5 per year advance). Conclusions: The 8-year bone age is a strong predictor of adult height. It will help monitoring the growth of CAH-affected children.

Growth of patients with congenital adrenal hyperplasia due to 21-hydroxylase in infancy, glucocorticoid requirement and the role of mineralocorticoid therapy

2018 ◽  
Vol 31 (9) ◽  
pp. 1019-1022
Author(s):  
Jack Sellick ◽  
Sarah Aldridge ◽  
Matthew Thomas ◽  
Tim Cheetham
Keyword(s):  
Standard Deviation ◽  
Congenital Adrenal Hyperplasia ◽  
Standard Deviation Score ◽  
Normal Growth ◽  
Height Velocity ◽  
Adrenal Hyperplasia ◽  
Growth Data ◽  
Hydroxylase Deficiency ◽  
21 Hydroxylase Deficiency

Abstract Background The dose of hydrocortisone therapy required to maintain normal growth in infants with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is lower than in later childhood. This reflects the presence of excess non-aromatisable rather than aromatisable androgen but there has been relatively little focus on the role of mineralocorticoid therapy. Methods Growth data of infants with CAH due to 21-hydroxylase deficiency (2008–2016) were reviewed and information regarding hydrocortisone and fludrocortisone regimen was collected. Change in height standard deviation (SD) and height velocity standard deviation score (SDS) were analysed during the first year of life. Results Growth data from 13 children (8 M) were analysed. Height (length) declined from a median of −0.69 SD at 3 months to −1.23 SD at 12 months with a reduction in height velocity SDS from 0.02 between 3 and 6 months to −2.22 between 9 and 12 months (p=0.017) despite a hydrocortisone dose at the lower end of the range as recommended in consensus guidelines. The glucocorticoid activity of hydrocortisone and fludrocortisone was negatively associated with growth velocity (r=−0.55; p=0.049) although renin activity was not suppressed. Conclusions Infants with 21-hydroxylase deficiency can be managed with replacement hydrocortisone. The reasons for this paradigm are now understood although our data confirm that the glucocorticoid activity of fludrocortisone needs to be taken into consideration as well.

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.

Sign in / Sign up

Export Citation Format

Share Document