Results 61 to 70 of about 5,009 (204)
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
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
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
Suboptimal psychosocial outcomes in patients with congenital adrenal hyperplasia : epidemiological studies in a nonbiased national cohort in Sweden [PDF]
, 2014 Context: Congenital adrenal hyperplasia (CAH), CYP21A2 deficiency, results in cortisol and aldosterone deficiency and increased production of androgens, with a good genotype phenotype correlation.
Falhammar, Henrik +8 more
core +1 more source
Increased mortality in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency [PDF]
, 2017 Context: Reports on mortality in patients with congenital adrenal hyperplasia (CAH) are lacking. Objective: To study mortality and causes of death in CAH.
Almqvist, C. +6 more
core +1 more source
Reproductive Medicine and Biology, Volume 25, Issue 1, January/December 2026.Thyroid autoimmunity may exert a subtle influence on ovarian reserve through complex endocrine and immune mechanisms, with age‐specific variation. Although AMH alterations are observed, their clinical relevance for primary ovarian insufficiency, fertility, and treatment outcomes of assisted reproduction remains unclear, highlighting the need for ...
Akira Iwase +9 more
wiley +1 more source
Indian Journal of Endocrinology and MetabolismCongenital adrenal hyperplasia (CAH) comprises a heterogeneous group of autosomal recessive disorders impairing adrenal steroidogenesis. Most cases are caused by mutations in the CYP21A2 gene resulting in 21-hydroxylase (21-OH) deficiency (21-OHD).
Lavanya Ravichandran +4 more
doaj +1 more source
The prevalence and genotype of 21-hydroxylase deficiency in the Croatian Romani population
Frontiers in Endocrinology, 2023 ObjectiveCongenital adrenal hyperplasia (CAH) owing to 21-hydroxylase deficiency (21-OHD) is a rare autosomal recessive disorder caused by pathological variants in the CYP21A2 gene.
Katja K. Dumic +7 more
doaj +1 more source
Late onset congenital adrenal hyperplasia due to 21-hydroxylase deficiency: revision of literature and preconception genetic study of five couples [PDF]
, 2011 The deficiency of the enzyme 21-hydroxylase (21-HO) is responsible for about 90% to 95% of all cases of congenital adrenal hyperplasia (HCSR). This disorder is one of the most frequent hereditary illnesses of autosomal recessive trait. The illness can be
Baptista, C +7 more
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