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Professional paper - Review paper
Sindrom potpune neosjetljivosti na androgene
Medicinski vjesnik, 39 (2007), 1-4; 35-44. urn:nbn:hr:239:481243
Wagner, Jasenka; Škrlec, Ivana; Štibi, Sanela; Viljetić, Barbara; Pušeljić, Silvija; Stipoljev, Fedora; Heffer-Lauc, Marija

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Wagner, J., Škrlec, I., Štibi, S., Viljetić, B., Pušeljić, S., Stipoljev, F. & Heffer Lauc, M. (2007). Sindrom potpune neosjetljivosti na androgene. Medicinski vjesnik, 39. (1-4), 35-44. Retrieved from https://urn.nsk.hr/urn:nbn:hr:239:481243

Wagner, Jasenka, et al. "Sindrom potpune neosjetljivosti na androgene." Medicinski vjesnik, vol. 39, no. 1-4, 2007, pp. 35-44. https://urn.nsk.hr/urn:nbn:hr:239:481243

Wagner, Jasenka, Ivana Škrlec, Sanela Štibi, Barbara Viljetić, Silvija Pušeljić, Fedora Stipoljev and Marija Heffer Lauc. "Sindrom potpune neosjetljivosti na androgene." Medicinski vjesnik 39, no. 1-4 (2007): 35-44. https://urn.nsk.hr/urn:nbn:hr:239:481243

Wagner, J., et al. (2007) 'Sindrom potpune neosjetljivosti na androgene', Medicinski vjesnik, 39(1-4), pp. 35-44. Available at: https://urn.nsk.hr/urn:nbn:hr:239:481243 (Accessed 16 November 2024)

Wagner J, Škrlec I, Štibi S, Viljetić B, Pušeljić S, Stipoljev F, and sur.. Sindrom potpune neosjetljivosti na androgene. Medicinski vjesnik [Internet]. 2007 [cited 2024 November 16];39(1-4):35-44. Available at: https://urn.nsk.hr/urn:nbn:hr:239:481243

J. Wagner, et al., "Sindrom potpune neosjetljivosti na androgene", Medicinski vjesnik, vol. 39, no. 1-4, pp. 35-44, 2007. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:239:481243. [Accessed: 16 November 2024]

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Metadata
Title (croatian)Sindrom potpune neosjetljivosti na androgene
Title (english)Complete Androgen Insensitivity Syndrome
AuthorJasenka Wagner
MBZ: 268083
AuthorIvana Škrlec
MBZ: 366802
AuthorSanela Štibi
AuthorBarbara Viljetić
MBZ: 268094
AuthorSilvija Pušeljić
MBZ: 263190
AuthorFedora Stipoljev
MBZ: 231504
AuthorMarija Heffer-Lauc
MBZ: 178985
Author's institution(Clinical hospital center Osijek)
Author's institutionJosip Juraj Strossmayer University of Osijek
Faculty of Medicine Osijek
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Gynecology and Obstetrics
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Pediatrics
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Basic Medical Sciences
Human Genetics, Genomics and Proteomics
Abstract (croatian)
Sindrom potpune neosjetljivosti na anđrogene otkriva se u djevojčica adolescentne dobi s izostankom menarhe ili djevojčica mlađe dobi s ingvinalnom hernijom. Ginekološki nalaz otkriva izostanak razvoja struktura koje nastaju od Miillerovih kanala (maternice, jajovoda i gornjega dijela vagine). Fenotipski to su djevojčice, ali s muškim spolnim komplementom (46,XY). Klasični se kariogram nadopunjuje probom FISFI SRY. Gen SRY kod tih je djevojčica posve normalne funkcije te one imaju normalno razvijene testise koji su smješteni intraabdominalno ili ingvinalno. Sindrom je posljedica mutacije gena za receptor androgena koja se nasljeđuje X-vezano recesivno i potvrđuje molekulamo-genetičkom analizom. Iako se radi o potpuno zdravim osobama, njihova dijagnoza ima psihosocijalne posljedice koje zahtijevaju multidisciplinami pristup.
Abstract (english)
Complete Androgen Insensitivity Syndrome is found in adolescent girls with the absence of menarche or in younger girls with inguinal hernia. The absence of structures that develop from Müllerian ducts (uterus, oviducts and upper part of vagina) was found during gynecological examination. Phenotypically they are female, but with a male genotype (46, XY). Classical karyogram is supplemented with FISH SRY probe. SRY gene functions normally in these girls, so that they have normal male gonads situated intraabdominally or inguinally. Syndrome is caused by the mutation of androgen receptor that is inherited X-linked recessively and confirmed by molecular genetic analysis. Although they are completely healthy persons, their diagnosis has psychosocial consequences that require a multi-disciplinary approach.
Keywords (croatian)
Keywords (english)
Languagecroatian
Publication typeProfessional paper - Review paper
Publication statusPublished
Peer reviewPeer review - international
Publication versionPublished version
Journal titleMedicinski vjesnik
Numberingvol. 39, no. 1-4, pp. 35-44
p-ISSN0350-6487
URN:NBNurn:nbn:hr:239:481243
Publication2007
Document URLhttps://hrcak.srce.hr/index.php?show=clanak&id_clanak_jezik=282288
Type of resourceText
Access conditionsOpen access
Terms of useLicence Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0) icon
Created on2020-04-01 09:08:27