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Quoted phrase not found in phrase index: "46,XY Disorder of Androgen Action"
Page 1
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.
Eggers S, Sadedin S, van den Bergen JA, Robevska G, Ohnesorg T, Hewitt J, Lambeth L, Bouty A, Knarston IM, Tan TY, Cameron F, Werther G, Hutson J, O'Connell M, Grover SR, Heloury Y, Zacharin M, Bergman P, Kimber C, Brown J, Webb N, Hunter MF, Srinivasan S, Titmuss A, Verge CF, Mowat D, Smith G, Smith J, Ewans L, Shalhoub C, Crock P, Cowell C, Leong GM, Ono M, Lafferty AR, Huynh T, Visser U, Choong CS, McKenzie F, Pachter N, Thompson EM, Couper J, Baxendale A, Gecz J, Wheeler BJ, Jefferies C, MacKenzie K, Hofman P, Carter P, King RI, Krausz C, van Ravenswaaij-Arts CM, Looijenga L, Drop S, Riedl S, Cools M, Dawson A, Juniarto AZ, Khadilkar V, Khadilkar A, Bhatia V, Dũng VC, Atta I, Raza J, Thi Diem Chi N, Hao TK, Harley V, Koopman P, Warne G, Faradz S, Oshlack A, Ayers KL, Sinclair AH. Eggers S, et al. Genome Biol. 2016 Nov 29;17(1):243. doi: 10.1186/s13059-016-1105-y. Genome Biol. 2016. PMID: 27899157 Free PMC article.
RESULTS: We analyzed DNA from the largest reported international cohort of patients with DSD (278 patients with 46,XY DSD and 48 with 46,XX DSD). Our targeted gene panel compares favorably with other sequencing platforms. ...Overall, we identified a likely genetic d …
RESULTS: We analyzed DNA from the largest reported international cohort of patients with DSD (278 patients with 46,XY DSD and …
Gonadal malignancy risk and prophylactic gonadectomy in disorders of sexual development.
Abacı A, Çatlı G, Berberoğlu M. Abacı A, et al. J Pediatr Endocrinol Metab. 2015 Sep;28(9-10):1019-27. doi: 10.1515/jpem-2014-0522. J Pediatr Endocrinol Metab. 2015. PMID: 25879315 Review.
Germ cell tumor risk is lowest (<5%) in patients with defects in androgene action or synthesis (such as complete androgen insensitivity syndrome, 5alpha-reductase deficiency), whereas the highest risk (15%-60%) is observed in 46,XY gon …
Germ cell tumor risk is lowest (<5%) in patients with defects in androgene action or synthesis (such as complete androge …
Etiological classification and clinical spectrum of Egyptian pediatric patients with disorder of sex development, single center experience.
Shamma RA, Atef S, Arafa N. Shamma RA, et al. Endokrynol Pol. 2021;72(5):558-565. doi: 10.5603/EP.a2021.0045. Epub 2021 May 19. Endokrynol Pol. 2021. PMID: 34010442 Free article.
The most common cause of 46XY DSD was due to either defect in androgen synthesis or action (40%) with the majority due to androgen insensitivity syndrome (28%). ...CONCLUSION: Our series revealed that 46XY DSD was the most frequent DSD aetiological diagnosis, …
The most common cause of 46XY DSD was due to either defect in androgen synthesis or action (40%) with the majority due to a …
Molecular basis of androgen insensitivity.
Brinkmann AO. Brinkmann AO. Mol Cell Endocrinol. 2001 Jun 20;179(1-2):105-9. doi: 10.1016/s0303-7207(01)00466-x. Mol Cell Endocrinol. 2001. PMID: 11420135 Review.
The actions of androgens are mediated by the androgen receptor. This ligand dependent transcription factor belongs to the superfamily of nuclear receptors, including those for the other steroid hormones. ...It is generally accepted that defects in the andr …
The actions of androgens are mediated by the androgen receptor. This ligand dependent transcription factor belongs to t …
Birth Weight in Different Etiologies of Disorders of Sex Development.
Poyrazoglu S, Darendeliler F, Ahmed SF, Hughes I, Bryce J, Jiang J, Rodie M, Hiort O, Hannema SE, Bertelloni S, Lisa L, Guran T, Cools M, Desloovere A, Claahsen-van der Grinten HL, Nordenstrom A, Holterhus PM, Kohler B, Niedziela M, Krone N. Poyrazoglu S, et al. J Clin Endocrinol Metab. 2017 Mar 1;102(3):1044-1050. doi: 10.1210/jc.2016-3460. J Clin Endocrinol Metab. 2017. PMID: 28359094 Free article.
Cases were evaluated according to disorder classification in I-DSD (i.e., disorders of gonadal development, androgen excess, androgen synthesis, androgen action, nonspecific disorder of undermasculinization groups, and Leydig cell …
Cases were evaluated according to disorder classification in I-DSD (i.e., disorders of gonadal development, androgen ex …
Biological assessment of abnormal genitalia.
Hughes IA, Morel Y, McElreavey K, Rogol A. Hughes IA, et al. J Pediatr Urol. 2012 Dec;8(6):592-6. doi: 10.1016/j.jpurol.2012.10.002. Epub 2012 Nov 15. J Pediatr Urol. 2012. PMID: 23168057
In essence, this is successful in up to 20% of cases from analysis of SRY and SF1 (NR5A1) genes. In contrast, gene mutation analysis is highly successful in 46,XY DSD due to defects in androgen synthesis or action. The era of next generation sequencing …
In essence, this is successful in up to 20% of cases from analysis of SRY and SF1 (NR5A1) genes. In contrast, gene mutation analysis is high …
SRD5A2 gene analysis in an Italian population of under-masculinized 46,XY subjects.
Nicoletti A, Baldazzi L, Balsamo A, Barp L, Pirazzoli P, Gennari M, Radetti G, Cacciari E, Cicognani A. Nicoletti A, et al. Clin Endocrinol (Oxf). 2005 Oct;63(4):375-80. doi: 10.1111/j.1365-2265.2005.02348.x. Clin Endocrinol (Oxf). 2005. PMID: 16181229
To characterize an Italian population of under-masculinized males, we performed the molecular analysis of the SRD5A2 gene (2p23), encoding the 5alpha-reductase-2 enzyme that converts testosterone (T) to dihydrotestosterone (DHT), and is required for full masculinization of the ma …
To characterize an Italian population of under-masculinized males, we performed the molecular analysis of the SRD5A2 gene (2p23), encoding t …
Hormonal evaluation in relation to phenotype and genotype in 286 patients with a disorder of sex development from Indonesia.
Juniarto AZ, van der Zwan YG, Santosa A, Ariani MD, Eggers S, Hersmus R, Themmen AP, Bruggenwirth HT, Wolffenbuttel KP, Sinclair A, White SJ, Looijenga LH, de Jong FH, Faradz SM, Drop SL. Juniarto AZ, et al. Clin Endocrinol (Oxf). 2016 Aug;85(2):247-57. doi: 10.1111/cen.13051. Epub 2016 Apr 4. Clin Endocrinol (Oxf). 2016. PMID: 26935236
In 46,XY DSD, diagnostic groups were identified based on the external masculinization score: androgen action disorder (AAD), unknown male undermasculinization (UMU), and gonadal dysgenesis (GD). ...The most informative parameters were ser …
In 46,XY DSD, diagnostic groups were identified based on the external masculinization score: androgen action …
Extreme androgen resistance in a kindred with a novel insertion/deletion mutation in exon 5 of the androgen receptor gene.
Vilchis F, Ramos L, Kofman-Alfaro S, Zenteno JC, Méndez JP, Chávez B. Vilchis F, et al. J Hum Genet. 2003;48(7):346-51. doi: 10.1007/s10038-003-0036-0. Epub 2003 Jun 7. J Hum Genet. 2003. PMID: 12908100
Androgen insensitivy syndrome (AIS) is the most frequent cause of male pseudohermaphroditism resulting from target-organ resistance to androgen action. ...In the present study, four 46,XY patients born in two generations from a kindred with a hi …
Androgen insensitivy syndrome (AIS) is the most frequent cause of male pseudohermaphroditism resulting from target-organ resistance t …
Osteopenia as a feature of the androgen insensitivity syndrome.
Soule SG, Conway G, Prelevic GM, Prentice M, Ginsburg J, Jacobs HS. Soule SG, et al. Clin Endocrinol (Oxf). 1995 Dec;43(6):671-5. doi: 10.1111/j.1365-2265.1995.tb00533.x. Clin Endocrinol (Oxf). 1995. PMID: 8736267
The defect in these 46 XY patients resides in the androgen receptor gene, with consequent defective androgen action and abnormal sexual differentiation. ...These observations have implications for the management of patients with androg …
The defect in these 46 XY patients resides in the androgen receptor gene, with consequent defective androgen …
13 results