A review of the literature on common CYP17A1 mutations in adults with 17-hydroxylase/17, 20-lyase deficiency, a case series of such mutations among Koreans and …
Abstract Objective 17α-hydroxylase/17, 20-lyase deficiency is a rare form of congenital
adrenal hyperplasia, characterized by hypertension and sexual infantilism and caused by …
adrenal hyperplasia, characterized by hypertension and sexual infantilism and caused by …
Insights into interactions of human cytochrome P450 17A1: a review
Cytochrome P450s are a widespread and vast superfamily of hemeprotein
monooxygenases that metabolize physiologically essential chemicals necessary for most …
monooxygenases that metabolize physiologically essential chemicals necessary for most …
[PDF][PDF] A rare cause of congenital adrenal hyperplasia: clinical and genetic findings and follow-up characteristics of six patients with 17-hydroxylase deficiency …
Objective: 17α-hydroxylase/17, 20 lyase deficiency (17OHD) is a rare form of congenital
adrenal hyperplasia (CAH), characterized by hypertension and varying degrees of …
adrenal hyperplasia (CAH), characterized by hypertension and varying degrees of …
[HTML][HTML] Clinical, hormonal, ovarian, and genetic aspects of 46, XX patients with congenital adrenal hyperplasia due to CYP17A1 defects
Objective To perform a clinical, biochemical, and molecular evaluation of patients with
CYP17A1 defects, including ovarian imaging. Design Retrospective study. Setting Tertiary …
CYP17A1 defects, including ovarian imaging. Design Retrospective study. Setting Tertiary …
High incidence of hypertension-mediated organ damage in a series of Chinese patients with 17α-hydroxylase deficiency
Z Zhao, L Lu, O Wang, X Wu, B Sun, W Zhang, X Wang… - Endocrine, 2022 - Springer
Objective To analyze the prevalence of hypertension-mediated organ damage (HMOD) and
its relationship with enzyme activity of mutant CYP17A1 and other risk factors in patients with …
its relationship with enzyme activity of mutant CYP17A1 and other risk factors in patients with …
CYP17A1 Pathogenic Variants in 26 Chinese Patients With 17α-Hydroxylase Deficiency by Targeted Long-Read Sequencing
Y Cao, Z Zhao, L Lu, X Zhang, W Zhang… - The Journal of …, 2024 - academic.oup.com
Abstract Background 17α-hydroxylase/17, 20-lyase deficiency (17-OHD) is a rare subtype of
congenital adrenal hyperplasia caused by homozygous or compound heterozygous …
congenital adrenal hyperplasia caused by homozygous or compound heterozygous …
New genetic abnormalities in non-21α-hydroxylase-deficiency congenital adrenal hyperplasia
Congenital adrenal hyperplasia comprises a group of autosomal recessive disorders of
sexual differentiation and development that occur due to deficiencies in steroidogenic …
sexual differentiation and development that occur due to deficiencies in steroidogenic …
Discordant genotypic sex and phenotype variations in two Spanish siblings with 17α-hydroxylase/17, 20-lyase deficiency carrying the most prevalent mutated …
M Fernández-Cancio, E García-García… - Sexual …, 2017 - karger.com
Abstract 17α-hydroxylase/17, 20-lyase deficiency is a rare form of congenital adrenal
hyperplasia caused by mutations in CYP17A1. Two phenotypic female sisters, aged 17 and …
hyperplasia caused by mutations in CYP17A1. Two phenotypic female sisters, aged 17 and …
Mécanisme d'action de la kinase AMPK et de certains perturbateurs endocriniens dans la répression de la stéroïdogenèse dans les cellules de Leydig
ZB Demmouche - 2023 - corpus.ulaval.ca
Résumé La stéroïdogenèse doit être méticuleusement régulée, car l'insuffisance ou l'excès
d'hormones stéroïdiennes est associé à diverses affections pathologiques telles que les …
d'hormones stéroïdiennes est associé à diverses affections pathologiques telles que les …
Primary amenorrhea in two sisters: description of a Mexican family with 17α hydroxylase-17 lyase deficiency caused by arginine–stop mutation
MA Escamilla-Márquez… - Gynecological …, 2012 - Taylor & Francis
A rare cause of congental adrenal hyperplasia is 17α-hydroxylase deficiency. It results in
sexual infantilism, primary amenorrhea in females, pseudohermaphroditism in males …
sexual infantilism, primary amenorrhea in females, pseudohermaphroditism in males …