scholarly journals Blood Pressure and Left Ventricular Characteristics in Young Patients with Classical Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

2009 ◽  
Vol 2009 ◽  
pp. 1-6 ◽  
Author(s):  
Graziamaria Ubertini ◽  
Carla Bizzarri ◽  
Armando Grossi ◽  
Fabrizio Gimigliano ◽  
Lucilla Ravà ◽  
...  
Keyword(s):  
Blood Pressure ◽  
Congenital Adrenal Hyperplasia ◽  
Young Patients ◽  
Left Ventricular ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
21 Hydroxylase Deficiency

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.

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.

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