Results 41 to 50 of about 7,344,533 (183)

In Silico Structural and Biochemical Functional Analysis of a Novel CYP21A2 Pathogenic Variant. [PDF]

, 2020
Classical congenital adrenal hyperplasia (CAH) caused by pathogenic variants in the steroid 21-hydroxylase gene (CYP21A2) is a severe life-threatening condition.
Monica Dines, Pignatti, Emanuele, Dov Tiosano, Rachel Kolodny, Dines, Monica, Emanuele Pignatti, Flück, Christa E., Michal Cohen, Adi Mory, Cohen, Michal, Nina Ekhilevitch, Ekhilevitch, Nina, Christa E. Flück, Tiosano, Dov, Mory, Adi, Kolodny, Rachel   +15 more
core   +1 more source

Non-Classical Congenital Adrenal Hyperplasia-Causing Alleles in Adolescent Girls with PCOS and in Risk Group for PCOS Development

Diagnostics, 2021
Background: Polycystic ovary syndrome (PCOS) is the most common endocrinopathy in women. Depending on the diagnostic criteria applied, it occurs in up to 16.6% of the general female population. Congenital adrenal hyperplasia includes a group of autosomal
Lasma Lidaka, Laine Bekere, Gunta Lazdane, Iveta Dzivite-Krisane, Anda Kivite-Urtane, Linda Gailite   +5 more
doaj   +1 more source

Intraspecific Evolution of Human RCCX Copy Number Variation Traced by Haplotypes of the CYP21A2 Gene [PDF]

, 2013
The RCCX region is a complex, multiallelic, tandem copy number variation (CNV). Two complete genes, complement component 4 (C4) and steroid 21-hydroxylase (CYP21A2, formerly CYP21B), reside in its variable region.
Szilágyi, Ágnes, Doleschall, Márton, Prohászka Zoltán, Patócs Attila Balázs, Bánlaki, Zsófia, Patócs, Attila Balázs, Szabo JA, Füst György, Bánlaki Zsófia, Doleschall Márton, Szabó, Julianna Anna, Prohászka, Zoltán, Szilágyi Ágnes, Füst, György   +13 more
core   +1 more source

Non-Classic Congenital Adrenal Hyperplasia in Childhood: A Review

Sexes, 2023
Congenital adrenal hyperplasia (CAH) is a heterogeneous group of autosomal recessive disorders due to defects in adrenal steroid biosynthesis. In about 90% of patients, CAH is caused by pathogenetic variants in CYP21A2 gene, impairing the function of 21 ...
Giulia Bertolucci, Nina Tyutyusheva, Margherita Sepich, Fulvia Baldinotti, Maria Adelaide Caligo, Maria Rita Sessa, Diego Giampiero Peroni, Silvano Bertelloni   +7 more
doaj   +1 more source

Clinical Phenotype and Mutation Spectrum of the CYP21A2 Gene in Patients with Steroid 21-Hydroxylase Deficiency

, 2011
Steroid 21-hydroxylase deficiency is caused by inactivating mutations in the CYP21A2 gene. This paper reports on the mutation spectrum and the genotype-phenotype correlation of 21-hydroxylase deficiency.
G.-H. Kim, C.-W. Jung, J. Ko, J.-J. Lee, H.-W. Yoo, J.-H. Choi, J. Lee, H.-Y. Jin, B. Lee   +8 more
core   +1 more source

Rare nonclassic type of Congenital adrenal hyperplasia due to 21-hydroxylase deficiency and genotype-phenotypic correlation

Heliyon
Objective: To explore the correlation between different CYP21A2 pathogenic gene mutations and clinical phenotypes in Congenital adrenal hyperplasia (CAH) patients.
Yanru Hou, Yian Li, Jiajia Ai, Li Tian
doaj   +1 more source

Marked cortisol production by intracrine ACTH in GIP-treated cultured adrenal cells in which the GIP receptor was exogenously introduced. [PDF]

PLoS ONE, 2014
The ectopic expression of the glucose-dependent insulinotropic polypeptide receptor (GIPR) in the human adrenal gland causes significant hypercortisolemia after ingestion of each meal and leads to Cushing's syndrome, implying that human GIPR activation ...
Hiroko Fujii, Mimi Tamamori-Adachi, Kousuke Uchida, Takao Susa, Takashi Nakakura, Haruo Hagiwara, Masayoshi Iizuka, Hiroko Okinaga, Yuji Tanaka, Tomoki Okazaki   +9 more
doaj   +1 more source

Molecular Diagnosis of Steroid 21-Hydroxylase Deficiency: A Practical Approach

Frontiers in Endocrinology, 2022
Adrenal insufficiency in paediatric patients is mostly due to congenital adrenal hyperplasia (CAH), a severe monogenic disease caused by steroid 21-hydroxylase deficiency (21-OHD, encoded by the CYP21A2 gene) in 95% of cases.
María Arriba, María Arriba, Begoña Ezquieta, Begoña Ezquieta   +3 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, Zorana Grubic, Vesna Kusec, Duje Braovac, Kristina Gotovac, Maja Vinkovic, Maja Vucinic, Miroslav Dumic   +7 more
doaj   +1 more source

Obesity in Classic Congenital Adrenal Hyperplasia: Mechanisms, Complications and Management

Clinical Endocrinology, EarlyView.
ABSTRACT Classic congenital adrenal hyperplasia (CCAH) is an autosomal recessive genetic disorder primarily caused by 21‐hydroxylase deficiency. Although the survival rate of patients has significantly improved with glucocorticoid replacement therapy, long‐term use of supraphysiological doses and multiple factors inherent to the disease itself have led
Jialin Mu, Yue Li, Meng Sun, Yulin Li, Panpan Li, Hui Zou   +5 more
wiley   +1 more source