An Unusual Presentation of 46,XY Pure Gonadal Dysgenesis: Spontaneous Breast Development and Menstruation

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dc.contributor.authorCatli, Gonul
dc.contributor.authorAlparslan, Caner
dc.contributor.authorCan, P. Sule
dc.contributor.authorAkbay, Sinem
dc.contributor.authorKelekci, Sefa
dc.contributor.authorAtik, Tahir
dc.contributor.authorOzyilmaz, Berk
dc.contributor.authorDundar, Bumin N.
dc.date.accessioned2019-10-27T20:24:45Z
dc.date.available2019-10-27T20:24:45Z
dc.date.issued2015
dc.departmentEge Üniversitesien_US
dc.description.abstract46,XY pure gonadal dysgenesis (Swyer syndrome) is characterized by normal female genitalia at birth. It usually first becomes apparent in adolescence with delayed puberty and amenorrhea. Rarely, patients can present with spontaneous breast development and/or menstruation. A fifteen-year-old girl presented to our clinic with the complaint of primary amenorrhea. On physical examination, her external genitals were completely female. Breast development and pubic hair were compatible with Tanner stage V. Hormonal evaluation revealed a hypergonadotropic state despite a normal estrogen level. Chromosome analysis revealed a 46,XY karyotype. Pelvic ultrasonography showed small gonads and a normal sized uterus for age. SRY gene expression was confirmed by multiplex polymerase chain reaction. Direct sequencing on genomic DNA did not reveal a mutation in the SRY, SF1 and WT1 genes. After the diagnosis of Swyer syndrome was made, the patient started to have spontaneous menstrual cycles and therefore failed to attend her follow-up visits. After nine months, the patient underwent diagnostic laparoscopy. Frozen examination of multiple biopsies from gonad tissues revealed gonadoblastoma. With this report, we emphasize the importance of performing karyotype analysis, which is diagnostic for Swyer syndrome, in all cases with primary or secondary amenorrhea even in the presence of normal breast development. We also suggest that normal pubertal development in patients with Swyer syndrome may be associated with the presence of a hormonally active tumor.en_US
dc.identifier.doi10.4274/jcrpe.1919
dc.identifier.endpage162en_US
dc.identifier.issn1308-5727
dc.identifier.issn1308-5735
dc.identifier.issue2en_US
dc.identifier.pmid26316442en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage159en_US
dc.identifier.urihttps://doi.org/10.4274/jcrpe.1919
dc.identifier.urihttps://hdl.handle.net/11454/42165
dc.identifier.volume7en_US
dc.identifier.wosWOS:000355936400014en_US
dc.identifier.wosqualityQ2en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakTR-Dizinen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherGalenos Yayinciliken_US
dc.relation.ispartofJournal of Clinical Research in Pediatric Endocrinologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subject46,XY pure gonadal dysgenesisen_US
dc.subjectbreast developmenten_US
dc.subjectamenorrheaen_US
dc.subjectmenstruationen_US
dc.titleAn Unusual Presentation of 46,XY Pure Gonadal Dysgenesis: Spontaneous Breast Development and Menstruationen_US
dc.typeArticleen_US

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