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2024 12
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Page 1
The Genetics of Female and Male Infertility.
Tüttelmann F, Wyrwoll MJ, Steingröver J, Wieacker P. Tüttelmann F, et al. Dtsch Arztebl Int. 2025 Mar 7;122(5):115-120. doi: 10.3238/arztebl.m2024.0259. Dtsch Arztebl Int. 2025. PMID: 39836465 Free PMC article. Review.
If congenital adrenal hyperplasia is suspected, the CYP21A2 gene should be investigated. In men, genetic diagnosis is based primarily on the findings of semen analysis. ...
If congenital adrenal hyperplasia is suspected, the CYP21A2 gene should be investigated. In men, genetic diagnosis is based primarily …
Genetics and Pathophysiology of Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.
Yang M, White PC. Yang M, et al. J Clin Endocrinol Metab. 2025 Jan 21;110(Supplement_1):S1-S12. doi: 10.1210/clinem/dgae535. J Clin Endocrinol Metab. 2025. PMID: 39836621 Free PMC article. Review.
CAH is most commonly caused by 21-hydroxylase deficiency (21OHD) due to mutations in the CYP21A2 gene. Whereas there is a spectrum of disease severity, 21OHD is generally categorized into 3 forms. ...
CAH is most commonly caused by 21-hydroxylase deficiency (21OHD) due to mutations in the CYP21A2 gene. Whereas there is a spectrum of …
Chimeric CYP21A1P/CYP21A2 Genes in 21-Hydroxylase Deficiency Detected by Long-Read Sequencing and Phenotypes Correlation.
Zhang X, Gao Y, Lu L, Cao Y, Zhang W, Wu X, Tong A, Chen S, Wang X, Mao J, Nie M. Zhang X, et al. J Clin Endocrinol Metab. 2025 Sep 16;110(10):e3322-e3333. doi: 10.1210/clinem/dgae819. J Clin Endocrinol Metab. 2025. PMID: 39903210 Free article.
CONTEXT: 21-Hydroxylase deficiency (21-OHD) is caused by pathogenic variants in CYP21A2. High homology between CYP21A2 and its pseudogene CYP21A1P causes mismatches, leading to deletions and CYP21A1P/CYP21A2 chimeras. ...CONCLUSION: LRS is a comprehensive gen …
CONTEXT: 21-Hydroxylase deficiency (21-OHD) is caused by pathogenic variants in CYP21A2. High homology between CYP21A2 and its …
Exploring antigenic variation in autoimmune endocrinopathy.
Mavridou M, Pearce SH. Mavridou M, et al. Front Immunol. 2025 Feb 28;16:1561455. doi: 10.3389/fimmu.2025.1561455. eCollection 2025. Front Immunol. 2025. PMID: 40093006 Free PMC article. Review.
This review will summarise the different ways genetic variations in certain genes encoding endocrine-specific antigens (INS, TSHR, TPO, CYP21A2, PIT-1) may predispose to different autoimmune endocrine conditions....
This review will summarise the different ways genetic variations in certain genes encoding endocrine-specific antigens (INS, TSHR, TPO, C …
Combination therapy of GnRHa, RhGH and anastrozole to improve final adult height deficit in CAH children with CPP.
Liu X, Liu F, Qi Y, Han X, Ma S, Zheng R. Liu X, et al. BMC Pediatr. 2025 May 7;25(1):362. doi: 10.1186/s12887-025-05703-8. BMC Pediatr. 2025. PMID: 40329244 Free PMC article.
RESULTS: All patients showed high levels of 17-hydroxyprogesterone, testosterone and adrenocorticotropic hormone. All patients had CYP21A2 gene mutations, and the newly discovered mutation c.79 A > G (p.Ser27Gly) may change the hydrophilicity of the protein and affect i …
RESULTS: All patients showed high levels of 17-hydroxyprogesterone, testosterone and adrenocorticotropic hormone. All patients had CYP21A …
Assisted Reproduction Technology Treatment Outcomes in Female Carriers of 21-Hydroxylase Deficiency.
Arcaz AC, Hernandez-Nieto C, Lee JA, Cacchione TA, Mukherjee T, Copperman AB. Arcaz AC, et al. J Clin Endocrinol Metab. 2025 Nov 18;110(12):e4169-e4175. doi: 10.1210/clinem/dgaf198. J Clin Endocrinol Metab. 2025. PMID: 40171917 Free article.
CONTEXT: Carriers of a CYP21A2 pathogenic variant exhibit distinct hormonal differences, yet their impact on assisted reproductive technology outcomes remains unknown. OBJECTIVE: To evaluate whether carriers of a CYP21A2 pathogenic variant exhibit differences in ova …
CONTEXT: Carriers of a CYP21A2 pathogenic variant exhibit distinct hormonal differences, yet their impact on assisted reproductive te …
Causal associations between congenital adrenal hyperplasia and neuropsychiatric conditions- a Mendelian Randomization Study.
Liu Y, Gang X, Gao Y, Wang G. Liu Y, et al. Endocrine. 2025 Jul;89(1):291-307. doi: 10.1007/s12020-025-04237-4. Epub 2025 Apr 30. Endocrine. 2025. PMID: 40307628 Free PMC article.
We hypothesized that reduced CYP21A2 expression, reflecting CAH, differentially influences psychiatric outcomes via tissue-specific pathways. METHODS: Using two-sample Mendelian randomization (MR), we analyzed tissue-specific CYP21A2 expression quantitative trait lo …
We hypothesized that reduced CYP21A2 expression, reflecting CAH, differentially influences psychiatric outcomes via tissue-specific p …
Novel rapid molecular diagnosis methods for comprehensive genetic analysis of 21-hydroxylase deficiency.
Xia Y, Yu F, Bai Y, Jiang L, Shi P, Jiang Z, Kong X. Xia Y, et al. Orphanet J Rare Dis. 2024 Oct 28;19(1):397. doi: 10.1186/s13023-024-03414-4. Orphanet J Rare Dis. 2024. PMID: 39468716 Free PMC article.
The aim of this study was to use a novel approach named CNVplex, together with the SNaPshot assay and direct sequencing, to identify CYP21A2 mutations efficiently and comprehensively. Targeted CYP21A2 mutation analysis was performed in 113 patients and 226 parents. …
The aim of this study was to use a novel approach named CNVplex, together with the SNaPshot assay and direct sequencing, to identify CYP2 …
Expanding families: a pilot study on preconception expanded carrier screening in Bahrain.
Skrypnyk C, AlHarmi R, Mathur A, AlHafnawi HH, Chandan Appikonda SH, Matsa LS. Skrypnyk C, et al. BMC Pregnancy Childbirth. 2024 Oct 18;24(1):684. doi: 10.1186/s12884-024-06878-1. BMC Pregnancy Childbirth. 2024. PMID: 39425040 Free PMC article.
The most common variants identified were of HBA, HBB, CYP21A2, and G6PD genes. Most of the detected variants were unknown or unexpected (n = 143, 82.18%). ...
The most common variants identified were of HBA, HBB, CYP21A2, and G6PD genes. Most of the detected variants were unknown or unexpect …
Genomic complexity and clinical significance of the RCCX locus.
Shiryagin VV, Devyatkin AA, Fateev OD, Petriaikina ES, Bogdanov VP, Antysheva ZG, Volchkov PY, Yudin SM, Woroncow M, Skvortsova VI. Shiryagin VV, et al. PeerJ. 2024 Nov 4;12:e18243. doi: 10.7717/peerj.18243. eCollection 2024. PeerJ. 2024. PMID: 39512309 Free PMC article. Review.
As a result, optimal approaches are proposed for the diagnosis of the most common disease caused by lesions in the RCCX-CAH due to CYP21A2 deficiency....
As a result, optimal approaches are proposed for the diagnosis of the most common disease caused by lesions in the RCCX-CAH due to CYP21A …
44 results