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Clinical, Biochemical and Molecular Characteristics of Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency.
J Clin Res Pediatr Endocrinol
January 2025
Ankara University Faculty of Medicine, Department of Pediatric Endocrinology, Ankara, Turkey
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease caused by the deficiency of one of the enzymes involved in cortisol synthesis. Between 90% and 99% of cases of CAH are caused by 21-hydroxylase deficiency (21-OHD) caused by mutations in . Although 21-OHD has been historically divided into classical and non-classical forms, it is now thought to show a continuous phenotype.
View Article and Find Full Text PDF21-Hydroxylase Deficiency Detected in Neonatal Screening: High Probability of False Negativity in Late Onset Form.
Exp Clin Endocrinol Diabetes
January 2025
Department of Children and Adolescents, Third Faculty of Medicine, Charles University and University Hospital Kralovske Vinohrady, Prague, Czech Republic.
Aim: Despite the high sensitivity of neonatal screening in detecting the classical form of congenital adrenal hyperplasia due to 21-hydroxylase deficiency, one of the unclear issues is identifying asymptomatic children with late onset forms. The aim of this nationwide study was to analyse the association between genotype and screened level of 17-hydroxyprogesterone in patients with the late onset form of 21-hydroxylase deficiency and to quantify false negativity.
Methods: In the Czech Republic, 1,866,129 neonates were screened (2006-2022).
Plasma 21-deoxycortisone: a sensitive additive tool in 21-hydroxylase deficiency in newborns.
Eur J Endocrinol
August 2024
Département de Métabolomique Clinique, Hôpital Saint Antoine, AP-HP.Sorbonne Université, 27 Rue Chaligny, 75012 Paris, France.
Objective, Design, And Methods: Although 17-hydroxyprogesterone (17OHP) has historically been the steroid assayed in the diagnosis of congenital adrenal 21-hydroxylase deficiency (CAH-21D), its C11-hydroxylated metabolite, 21-deoxycortisol (21DF), which is strictly of adrenal origin, is assayed in parallel in this pathology. This steroid (21DF) is oxidized by 11beta-hydroxysteroid dehydrogenase type 2 into 21-deoxycortisone (21DE). In the context of CAH-21D confirmation testing, confounding factors (such as intensive care unit admission, stress, prematurity, early sampling, and variations of sex development) can interfere with the interpretation of the gold-standard biomarkers (17OHP and 21DF).
View Article and Find Full Text PDFGreen method for 17-hydroxyprogesterone extraction and determination using PDMS stir bar sorptive extraction coupled with HPLC: optimization by response surface methodology.
Sci Rep
July 2024
Department of Analytical Chemistry, Faculty of Chemistry, Alzahra University, Vanak, Tehran, Iran.
Quantifying small amounts of the 17-hydroxyprogesterone in various matrix is crucial for different purposes. In this study, a commercial polydimethylsiloxane stir bar was used to extract hormone from water and urine samples. Analysis was performed by high-performance liquid chromatography using a UV detector.
View Article and Find Full Text PDFStability of steroid hormones in dried blood spots (DBS).
Clin Chem Lab Med
November 2024
Endocrine Laboratory, Department of Laboratory Medicine, Amsterdam UMC, Location University of Amsterdam and Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.
Objectives: Steroid hormone levels of patients may be monitored via dried blood spot (DBS) sampling at home. Stability of steroid hormones in DBS samples, however, needs to be established.
Methods: DBS samples from healthy volunteers were collected and stored at various temperatures.
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