Results 41 to 50 of about 4,947 (206)

CYP21A2 Mutations in Women with Polycystic Ovary Syndrome (PCOS)

Hormone and Metabolic Research, 2013
The question of the contribution of CYP21A2 heterozygosity to the development of polycystic ovary syndrome (PCOS) has repeatedly been raised in the literature. The available data, however, do not offer a satisfactory answer. The discrepancy must be attributed, primarily, to the small number of subjects in the various studies, the type of selected ...
Settas, N., Dracopoulou-Vabouli, M., Dastamani, A., Katsikis, I., Chrousos, G., Panidis, D., Dacou-Voutetakis, C.   +6 more
openaire   +3 more sources

Novel variants of CYP21A2 in Vietnamese patients with congenital adrenal hyperplasia [PDF]

Molecular Genetics & Genomic Medicine, 2019
AbstractBackgroundCongenital adrenal hyperplasia (CAH) (OMIM #201910) is a complex disease most often caused by pathogenic variant of the CYP21A2 gene. We have designed an efficient multistep approach to diagnose and classify CAH cases due to CYP21A2 variant and to study the genotype‐phenotype relationship.MethodsA large cohort of 212 Vietnamese ...
Vũ Chí Dũng, Thinh Huy Tran, Đức Hinh Nguyễn, Long Hoang Luong, Phuong Thi Le, Minh Hieu Ta, Huong Thi Thanh Ngo, Mai P. Nguyen, Tuan Pham Le-Anh, Dat Nguyen, The‐Hung Bui, Van Thanh Ta, Van Khanh Tran   +12 more
openaire   +2 more sources

Adrenogenital syndrome: molecular mechanisms of development [PDF]

, 2017
Резюме. На довгому, багатоступінчастому шляху біосинтезу стероїдних гормонів від холестеролу до кортизолу, тестостерону й естрадіолу внаслідок мутацій генів виникає недостатність ферментів стероїдогенезу в надниркових залозах: холестерол-десмолази, 3β ...
Пішак, В.П., Ризничук, М.О.   +1 more
core   +1 more source

Structure–phenotype correlations of human CYP21A2 mutations in congenital adrenal hyperplasia [PDF]

Proceedings of the National Academy of Sciences, 2013
Mutations in the cytochrome p450 (CYP)21A2 gene, which encodes the enzyme steroid 21-hydroxylase, cause the majority of cases in congenital adrenal hyperplasia, an autosomal recessive disorder. To date, more than 100 CYP21A2 mutations have been reported.
Haider, Shozeb, Islam, Barira, D'Atri, Valentina, Sgobba, Miriam, Poojari, Chetan, Sun, Li, Yuen, Tony, Zaidi, Mone, New, Maria   +8 more
openaire   +3 more sources

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., Kater, Claudio Elias, Telles-Silveira, Mariana   +2 more
core   +3 more sources

Steroidogenic compensation and lipid deficiency with enhanced NAD+ salvage in small‐for‐gestational‐age placenta

The FEBS Journal, EarlyView.
Fetal growth restriction is associated with placental metabolic adaptations. In small‐for‐gestational‐age placenta (SGA), cholesterol receptors and steroidogenic enzymes are upregulated, enhancing steroidogenesis. NAD salvage pathway is also increased to support NADP+/NADPH requirements.
Serena Xodo, Lorenza Driul, Vanessa Tolotto, Eros Di Giorgio, Luigi E. Xodo   +4 more
wiley   +1 more source

Novel rapid molecular diagnosis methods for comprehensive genetic analysis of 21-hydroxylase deficiency

Orphanet Journal of Rare Diseases
Background 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, Feng Yu, Ying Bai, Lili Jiang, Panlai Shi, Zhengwen Jiang, Xiangdong Kong   +6 more
doaj   +1 more source

Phenotype heterogeneity of congenital adrenal hyperplasia due to genetic mosaicism and concomitant nephrogenic diabetes insipidus in a sibling

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, Minjing Zou, Roua A. Al-Rijjal, Dorota Monies, Brian F. Meyer, Yufei Shi   +5 more
doaj   +1 more source

Pregnancy-associated changes of peroxisome proliferator-activated receptor delta (PPARD) and cytochrome P450 family 21 subfamily A member 2 (CYP21A2) expression in the bovine corpus luteum

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, Ken-Go HAYASHI, Misa HOSOE, Kosuke IGA, Keiichiro KIZAKI   +4 more
doaj   +1 more source

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, Iman Mandour, Noha Musa, Fatma Elmougy, Mona Hafez, Sahar Abdelatty, Amany Ibrahim, Hend Soliman, Bahaaeldin Labib, Yasmine Elshiwy, Tarek Ramzy, Marwa Elsharkawy   +11 more
doaj   +1 more source