Isolated 17,20-lyase (desmolase) deficiency in a 46,XX female presenting with delayed puberty

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dc.authorid0000-0001-8787-6272en_US
dc.authorid0000-0003-0120-9976en_US
dc.contributor.authorŞimşek, Enver
dc.contributor.authorÖzdemir, İsmail
dc.contributor.authorLin, Lin
dc.contributor.authorAchermann, John C.
dc.date.accessioned2021-06-23T19:18:26Z
dc.date.available2021-06-23T19:18:26Z
dc.date.issued2005
dc.departmentBAİBÜ, Tıp Fakültesi, Cerrahi Tıp Bilimleri Bölümüen_US
dc.departmentBAİBÜ, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü
dc.description.abstractMain Outcome Measure(s): Detailed biochemical, radiological, and molecular analysis, including pelvic ultrasound, basal steroid hormone analysis in serum and aspirated follicle fluid, serum steroid measurement after ACTH (Synachten) and human chorionic gonadotropin (hCG) stimulation, and molecular analysis of CYP17. Result(s): This girl with hypergonadotropic hypogonadism (LH 65 U/L, FSH 50 U/L) had a 46,XX karyotype, small uterus and enlarged cystic ovaries, and markedly delayed bone age (9 years). Basal (serum, follicular) and stimulated (serum) steroid hormone levels were consistent with isolated 17,20-lyase deficiency whereas relatively normal P and 17-hydroxyprogesterone concentrations were detected together with very low androstenedione, T, and E2 levels. Conclusion(s): Isolated 17,20-lyase deficiency should be considered in the differential diagnosis of hypergonadotropic hypogonadism in 46,XX females, and follicular fluid steroid analysis is a useful adjuvant test. Failure to detect mutations in CYP17 raises the possibility of a novel association of these phenotypes.en_US
dc.identifier.endpage1548en_US
dc.identifier.issn0015-0282
dc.identifier.issue5en_US
dc.identifier.pmid15866602en_US
dc.identifier.scopus2-s2.0-18144390873en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.startpage1548en_US
dc.identifier.urihttps://hdl.handle.net/20.500.12491/5729
dc.identifier.urihttps://doi.org/10.1016/j.fertnstert.2004.11.063
dc.identifier.volume83en_US
dc.identifier.wosWOS:000229010500040en_US
dc.identifier.wosqualityQ1en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.institutionauthorŞimşek, Enver
dc.institutionauthorÖzdemir, İsmail
dc.language.isoenen_US
dc.publisherElsevier Science Incen_US
dc.relation.ispartofFertility And Sterilityen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectIsolated 17,20-lyase Deficiencyen_US
dc.subjectDelayed Puberty
dc.titleIsolated 17,20-lyase (desmolase) deficiency in a 46,XX female presenting with delayed pubertyen_US
dc.typeArticleen_US

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