Results 51 to 60 of about 4,066 (184)
Copy Number Variations in Genetic Diagnosis of Congenital Adrenal Hyperplasia Children
Frontiers in Genetics, 2022 Background: Congenital adrenal hyperplasia (CAH) is a monogenic disorder caused by genetic diversity in the CYP21A2 gene, with 21-hydroxylase deficiency (21-OHD) as the most common type.
Aisha Tolba +11 more
doaj +1 more source
HORMONES, 2022 Background Genetic diversity of mutations in the CYP21A2 gene is the main cause of the monogenic congenital adrenal hyperplasia (CAH) disorder. On chromosome 6p21.3, the CYP21A2 gene is partially overlapped by the TNXB gene, the two residing in tandem ...
P. Fanis +3 more
semanticscholar +1 more source
A Humanized and Viable Animal Model for Congenital Adrenal Hyperplasia–CYP21A2-R484Q Mutant Mouse
International Journal of Molecular SciencesCongenital Adrenal Hyperplasia (CAH) is an autosomal recessive disorder impairing cortisol synthesis due to reduced enzymatic activity. This leads to persistent adrenocortical overstimulation and the accumulation of precursors before the blocked ...
Shamini Ramkumar Thirumalasetty +13 more
semanticscholar +1 more source
CPT: Pharmacometrics &Systems Pharmacology, EarlyView.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
Germ cell and other tumors in individuals with differences in sex development
CA: A Cancer Journal for Clinicians, Volume 75, Issue 6, Page 587-601, November/December 2025.Abstract Approximately one in 3500 to one in 5100 live‐born infants have atypical external genital development, known as differences in sex development (DSD). In 2005, an expert consensus conference thoroughly reviewed aspects of health care for individuals with DSD.
Selma Feldman Witchel +1 more
wiley +1 more source
Phenotypic variability of hyperandrogenemia in females heterozygous for CYP21A2 mutations
Indian Journal of Endocrinology and Metabolism, 2014 Objectives: The objective was to seek evidence on the prevalence and consequences of heterozygous CYP21A2 mutations in girls, adolescent, and adult females with clinical manifestation of androgen excess.
Vassos Neocleous +4 more
openalex +3 more sources
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
Tạp chí Y học Việt NamTăng sản thượng thận bẩm sinh (TSTTBS) là bệnh di truyền lặn trên nhiễm sắc thể thường do thiếu hụt enzyme 21-hydroxylase. Sự thiếu hụt enzyme 21-hydroxylase xảy ra do các đột biến trên gen CYP21A2.
N. Nguyễn +2 more
semanticscholar +1 more source
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
BMC Medical Genetics, 2018 Background Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) is an autosomal recessive disorder caused by mutations in the CYP21A2.
Yılmaz Kor +5 more
doaj +1 more source