Results 81 to 90 of about 26,513 (179)

Genotype–phenotype correlation study and mutational and hormonal analysis in a Chinese cohort with 21‐hydroxylase deficiency

Molecular Genetics & Genomic Medicine, 2019
Background Steroid 21‐hydroxylase deficiency (21OHD) is the most common enzymatic defect, but the genotype–phenotype associations have not been well established in Chinese patients.
Chao Xu, Wenyu Jia, Xiangdeng Cheng, Hui Ying, Jing Chen, Jin Xu, Qingbo Guan, Xinli Zhou, Dongmei Zheng, Guimei Li, Jiajun Zhao   +10 more
doaj   +1 more source

Comprehensive characterization of 21-hydroxylase deficiency in a Chinese pediatric cohort: phenotype, steroid profiles and genetics

Frontiers in Endocrinology
ObjectiveThis study aimed to investigate the clinical, steroid hormones and genetic characteristics of Chinese children with 21-hydroxylase deficiency (21OHD).MethodsThis retrospective study included 115 children with 21OHD.
Hemeng Chong, Guocui Xue, Yalei Pi, Yanan Zhang, Yuqian Li, Yutong Xing, Baorong Chen, Huifeng Zhang   +7 more
doaj   +1 more source

Steroid 21-Hydroxylase Deficiency in New Zealand

, 1999
The autosomal recessive disease steroid 21-hydroxylase deficiency (21-OHD) accounts for over 90% of congenital adrenal hyperplasia (CAH) cases. CAH patients have impaired cortisol biosynthesis and produce excess androgens which may result in ambiguous ...
Fitness, Jodene Elizabeth
core  

21-Hydroxylase deficiency in the neonate - Trends in steroid anabolism and catabolism during the first weeks of life

, 2013
Deficiency of 21-hydroxylase provides an in vivo model of intrauterine induction of enzymes participating in steroid anabolism and catabolism. Quantitative data for 93 steroid metabolites in urine from 111 patients and 7 controls (25 samples) were ...
Christakoudi, Sofia, Taylor, Norman F., Christakudis, Georgios, Cowan, David A.   +3 more
core   +1 more source

[Efficacy of letrozole in treatment of children with congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency]. [PDF]

Zhejiang Da Xue Xue Bao Yi Xue Ban, 2020
Wang Q, Zhang S, Ma X, Li G, Wang Z, Wang F.   +5 more
europepmc   +1 more source

Bone health in adolescents with congenital adrenal hyperplasia: exploring the interplay between glucocorticoid therapy, hormonal imbalance and puberty

Frontiers in Adolescent Medicine
Congenital adrenal hyperplasia (CAH) comprises a group of autosomal recessive disorders requiring lifelong glucocorticoid (GC) therapy. Skeletal health remains incompletely characterized, particularly during adolescence.
Irene Tizianel, Irene Tizianel, Filippo Ceccato, Filippo Ceccato, Mattia Barbot, Mattia Barbot   +5 more
doaj   +1 more source

Epicardial fat thickness in children with CAH

Minia Journal of Medical Research
Background: Congenital adrenal hyperplasia (CAH) was an autosomal recessive disorder originating from abnormalities in enzymes necessary for adrenal steroid production. 21-hydroxylase deficiency was predominant enzymatic abnormality responsible for (CAH).
Samira Sayed, Ghada Abdelaziz, Amr Setohi Abdelhafez, Noura ElBakry   +3 more
doaj   +1 more source

Measuring the structural impact of mutations on cytochrome P450 21A2, the major steroid 21-hydroxylase related to congenital adrenal hyperplasia

, 2019
Congenital adrenal hyperplasia is an inherited autosomal recessive disorder related to deficient cortisol synthesis. The deficiency of steroid 21-hydroxylase (cytochrome P450 21A2), an enzyme involved in cortisol synthesis, is responsible for ∼95% of ...
Kauê Santana da Costa (7271048), Tarcísio André Amorim de Carvalho (6649880), Nelson Alberto Nascimento de Alencar (6649883), Jorddy Neves Cruz (6649877)   +3 more
core   +1 more source

Steroid metabolites producing adenoma: a case report

Ожирение и метаболизм
Hyperandrogenism is the most prevalent cause of menstrual cycle abnormalities and infertility in women. Here, we present a case of a 32-year-old woman with a 7-year history of menstrual irregularity and infertility.
K. V. Ivashchenko, K. A. Komshilova, N. V. Molashenko, A. A. Lavreniuk, A. M. Lapshina, I. V. Kim, V. A. Ioutsi, M. A. Antsupova, M. V. Utkina, N. M. Platonova, E. A. Troshina, N. G. Mokrysheva   +11 more
doaj   +1 more source

High frequency of cytolytic 21-hydroxylase-specific CD8+ T cells in autoimmune Addison's disease patients.

, 2014
The mechanisms behind destruction of the adrenal glands in autoimmune Addison's disease remain unclear. Autoantibodies against steroid 21-hydroxylase, an intracellular key enzyme of the adrenal cortex, are found in >90% of patients, but these ...
Tarlton, Andrea, Bensing, Sophie, Badenhoop, K, Bratland, E, Gan, EH, Husebye, ES, Chen, Ji-Li, Dawoodji, Amina, Tarlton, A, Husebye, Eystein S., Cerundolo, Vincenzo, Mitchell, Anna L., Chen, JL, Gan, Earn H., Alimohammadi, M, Cerundolo, V, Kämpe, Olle,, Mitchell, AL, Meyer, Gesine, Alimohammadi, Mohammad, Bratland, Eirik, Bensing, S, Dawoodji, A, Meyer, G, Dalin, F, Kämpe, O, Badenhoop, Klaus, Pearce, SH, Penna-Martinez, Marissa, Pearce, Simon H., Shepherd, D, Penna-Martinez, M, Shepherd, Dawn, Dalin, Frida,   +33 more
core   +1 more source