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  3. Σχολή Επιστημών Υγείας
  4. Τμήμα Ιατρικής
  5. Άρθρα σε επιστημονικά περιοδικά ( Ανοικτά) - ΙΑΤ
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Please use this identifier to cite or link to this item: https://olympias.lib.uoi.gr/jspui/handle/123456789/18847
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dc.contributor.authorGoulis, D. G.en
dc.contributor.authorIliadou, P. K.en
dc.contributor.authorPapanicolaou, A.en
dc.contributor.authorGeorgiou, I.en
dc.contributor.authorChatzikyriakidou, A.en
dc.contributor.authorGerou, S.en
dc.contributor.authorBondis, I. N.en
dc.contributor.authorPapadimas, I.en
dc.date.accessioned2015-11-24T18:55:17Z-
dc.date.available2015-11-24T18:55:17Z-
dc.identifier.issn1109-3099-
dc.identifier.urihttps://olympias.lib.uoi.gr/jspui/handle/123456789/18847-
dc.rightsDefault Licence-
dc.subjectAdolescenten
dc.subjectAndrogen-Insensitivity Syndrome/*complications/*geneticsen
dc.subjectAnti-Mullerian Hormoneen
dc.subjectDihydrotestosterone/blooden
dc.subjectFemaleen
dc.subjectFollicle Stimulating Hormone/blooden
dc.subjectGlycoproteins/blooden
dc.subjectHamartoma/*complications/*diagnosis/geneticsen
dc.subjectHumansen
dc.subjectKaryotypingen
dc.subjectLeydig Cells/ultrastructureen
dc.subjectMaleen
dc.subjectPhenotypeen
dc.subject*Point Mutationen
dc.subjectReceptors, Androgen/*geneticsen
dc.subjectSertoli Cells/ultrastructureen
dc.subjectTesticular Diseases/*complications/diagnosis/geneticsen
dc.subjectTesticular Hormones/blooden
dc.titleR831X mutation of the androgen receptor gene in an adolescent with complete androgen insensitivity syndrome and bilateral testicular hamartomataen
heal.typejournalArticle-
heal.type.enJournal articleen
heal.type.elΆρθρο Περιοδικούel
heal.identifier.secondaryhttp://www.ncbi.nlm.nih.gov/pubmed/16950754-
heal.languageen-
heal.accesscampus-
heal.recordProviderΠανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικήςel
heal.publicationDate2006-
heal.abstractAn 18-year old, phenotypically female individual was examined for primary amenorrhea. Three months before her referral, the patient underwent surgery and a pelvic mass was removed. The physical examination revealed normal female external genitalia, normal breast development, sparse pubic hair and absence of axillary hair. The gynecological examination revealed a short blind vagina pouch and absence of cervix and uterus. Serum testosterone and dihydrotestosterone levels were very high. Karyotype was that of a normal male (46,XY). The transabdominal ultrasound, computed tomography (CT) and Magnetic resonance imaging (MRI) showed absence of uterus and fallopian tubes and revealed testis-like gonads located at the internal opening of the inguinal canal bilaterally. Bilateral gonadectomy was subsequently performed. The pathology report was that of "hamartomatous testes" and associated paratesticular leiomyoma. The clinical, laboratory, imaging, genetic and histological findings confirmed the diagnosis of complete androgen insensitivity syndrome. DNA analysis revealed a R831X mutation in exon 7 of the androgen receptor gene. A Sertoli-cell dynamic test showed elevated basal serum inhibin-B and anti-Mullerian hormone levels without further rise following FSH stimulation. The patient was started on hormone replacement therapy with conjugated estrogens. Complete androgen insensitivity syndrome must be considered in any case of primary amenorrhea. Gonadectomy must be planned to eliminate the risk of gonadal malignancy.en
heal.journalNameHormones (Athens)en
heal.journalTypepeer-reviewed-
heal.fullTextAvailabilityTRUE-
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