Advanced Science, Volume 13, Issue 9, 13 February 2026.This study highlights the significance of non‐canonical splicing variants in male infertility, a factor often overlooked during the analysis of high‐throughput sequencing data. Incorporating the non‐canonical splicing variants prioritization in the genetic analysis pipeline will increase the genetic diagnosis of patients with male infertility ...
Kuokuo Li +22 more
wiley +1 more source
Growth Pattern of Untreated Boys with Simple Virilizing Congenital Adrenal Hyperplasia Indicates Relative Androgen Insensitivity during the First Six Months of Life [PDF]
, 2010 Context: Mild forms of simple virilizing congenital adrenal hyperplasia (CAH) may be missed in newborn screening. In the pre-newborn-screening era, missed diagnosis of simple virilizing CAH was not infrequent in boys.
Bonfig, W., Schwarz, H. P.
core +1 more source
High frequency of copy number variations and sequence variants at CYP21A2 locus: implication for the genetic diagnosis of 21-hydroxylase deficiency. [PDF]
PLoS ONE, 2008 The systematic study of the human genome indicates that the inter-individual variability is greater than expected and it is not only related to sequence polymorphisms but also to gene copy number variants (CNVs).
Silvia Parajes +3 more
doaj +1 more source
Clinical Case Reports, Volume 14, Issue 1, January 2026.ABSTRACT Aldosterone synthase deficiency is a rare cause of neonatal salt‐wasting and failure to thrive. Routine newborn electrolyte screening after 5 days of life is vital for early detection and prevention of life‐threatening crises. Genetic confirmation enables targeted fludrocortisone therapy, ensuring favorable growth and developmental outcomes.
Mian Muhammad Hassan Ahmed +4 more
wiley +1 more source
Ultralow-dose dexamethasone to preserve endogenous cortisol stress response in nonclassical congenital adrenal hyperplasia: A new promising treatment [PDF]
, 2014 Introduction: Nonclassical congenital adrenal hyperplasia (CAH) is characterized by sufficient cortisol and aldosterone production at the cost of androgen overproduction.
Akker, E.L.T. (Erica) van den +1 more
core +1 more source
Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency through molecular genetic analysis of the CYP21A2 gene [PDF]
Annals of Pediatric Endocrinology & MetabolismPurpose Deficiency of 21-hydroxylase (21-OHD) is an autosomal recessively inherited disorder that is characterized by adrenal insufficiency and androgen excess.
Ji-Hee Yoon +5 more
doaj +1 more source
ANALYSIS CYP21A2 GENE MUTATIONS TECHNIQUE IN PATIENTS WITH CONGENITAL ADRENAL HYPERPLASIA [PDF]
Biotechnologia Acta, 2014 The technique of CYP21A2 gene mutation analysis, which can be applicable for pre- and postnatal diagnosis of congenital adrenal hyperplasia various types was developed.
Chernushyn S. Yu., Livshits L. A.
doaj +1 more source
Reproductive Medicine and Biology, Volume 25, Issue 1, January/December 2026.ABSTRACT Purpose This study aimed to evaluate the utility of long‐read sequencing (LRS) in identifying variants of congenital adrenal hyperplasia (CAH) and autosomal dominant polycystic kidney disease (ADPKD) in infertile men, which may help further clarify genetic diagnosis and support genetic counseling and reproductive management. Methods A total of
Xiao Li +6 more
wiley +1 more source
A CYP21A2 based whole-cell system in Escherichia coli for the biotechnological production of premedrol [PDF]
, 2015 Additional file 4: Fig. S4. In vitro conversion of medrane with the redox systems AdR/Adx/CYP21A2 or arh1/Adx/CYP21A2 with either NADH or NADPH. 400 ÎźM Medrane was converted in a reconstituted in vitro assay with Adx based redox systems containing AdR ...
Bernd Janocha +4 more
core +5 more sources
Frontiers in GeneticsBackground21-Hydroxylase deficiency (21-OHD) is caused by mutations in the CYP21A2 gene. Due to the complex structure and the high genetic heterogeneity of the CYP21A2 gene, genetic testing for 21-OHD is currently facing challenges.
Tian Lan +5 more
doaj +1 more source