Results 71 to 80 of about 4,073 (218)
CPT: Pharmacometrics &Systems Pharmacology, Volume 14, Issue 11, Page 1869-1881, November 2025.ABSTRACT Congenital adrenal hyperplasia (CAH) is a genetic disorder characterized by impaired cortisol production and consequent elevated adrenocorticotropic hormone (ACTH): CAH patients often require lifelong hydrocortisone therapy. Disease severity reflects residual 21‐hydroxylase enzyme activity, crucial for cortisol synthesis.
Davide Bindellini +7 more
wiley +1 more source
Molecular and Cytogenetic Analysis of Romanian Patients with Differences in Sex Development
Diagnostics, 2021 Differences in sex development (DSD) are often correlated with a genetic etiology. This study aimed to assess the etiology of DSD patients following a protocol of genetic testing. Materials and methods.
Diana Miclea +9 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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Cancer Medicine, Volume 14, Issue 20, October 2025.A transcriptome‐wide association study identified 40 genes associated with the risk of lung cancer, leveraging gene expression and genotype data from the Genotype‐Tissue Expression (GTEx) project and summary statistics of a genome‐wide association study on lung cancer.
Tianying Zhao +13 more
wiley +1 more source
Orphanet Journal of Rare DiseasesBackground Molecular analysis of the CYP21A2 gene is highly important for understanding the aetiology of 21-hydroxylase deficiency (21-OHD). The aim of this study was to use a novel approach named CNVplex, together with the SNaPshot assay and direct ...
Yanjie Xia +6 more
doaj +1 more source
The Journal of Reproduction and Development, 2020 We investigated gene expression profiles of the corpus luteum (CL) at the time of maternal recognition to evaluate the functional changes of the CL during early pregnancy in cows and help improve reproductive efficiency and avoid defective fetuses ...
Ryosuke SAKUMOTO +4 more
doaj +1 more source
DNA methylation profiling of the human major histocompatibility complex: A pilot study for the Human Epigenome Project [PDF]
, 2004 The Human Epigenome Project aims to identify, catalogue, and interpret genome-wide DNA methylation phenomena. Occurring naturally on cytosine bases at cytosine-guanine dinucleotides, DNA methylation is intimately involved in diverse biological processes ...
Andrews, TD +13 more
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Congenital adrenal hyperplasia in the adult women: management of old and new challenges [PDF]
, 2014 Due to major improvements in the management and therapy of patients with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency (21OHD) along childhood and adolescence, affected women are able to reach adulthood.
Costa-Barbosa, Flávia A. +2 more
core +3 more sources
Society for Endocrinology Clinical Practice Guideline for the Evaluation of Androgen Excess in Women
Clinical Endocrinology, Volume 103, Issue 4, Page 540-566, October 2025.ABSTRACT Context Androgen excess is common in women and refers to clinical or biochemical evidence of elevated androgenic steroids such as testosterone. It is associated with underlying polycystic ovary syndrome in the majority of cases. However severe androgen excess is less common and may indicate the presence of underlying adrenal or ovarian ...
Yasir S. Elhassan +14 more
wiley +1 more source
Spectrum of molecular alterations detected in the CYP21A2 gene associated with 21-hydroxylase deficiency [PDF]
, 2018 A maioria dos doentes com hiperplasia suprarrenal congénita (HSC) apresenta alterações moleculares no gene CYP21A2, o qual codifica a enzima 21-hidroxilase (21-OH).
Amaral, Daniela +22 more
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