A novel variant in LCHGR gene in 3 siblings with type 1 leydig cell hypoplasia

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dc.authorid0000-0002-5299-9480en_US
dc.authorid0000-0001-7004-6803en_US
dc.authorid0000-0002-9809-0977en_US
dc.authorid0000-0003-2438-0602en_US
dc.contributor.authorKarakaya, Amine Aktar
dc.contributor.authorÜnal, Edip
dc.contributor.authorBeştaş, Aslı
dc.contributor.authorTaş, Funda
dc.contributor.authorOnay, Hüseyin
dc.contributor.authorHaspolat, Yusuf Kenan
dc.date.accessioned2021-11-30T13:28:23Z
dc.date.available2021-11-30T13:28:23Z
dc.date.issued2020en_US
dc.departmentDicle Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Çocuk Sağlığı ve Hastalıkları Ana Bilim Dalıen_US
dc.description.abstractIntroduction: Leydig cell hypoplasia (LCH) is an autosomal recessive disease that causes 46, XY sex development disorder. The patients with LCH are usually in the female phenotype and are presented with the complaints of no breast development and primary amenorrhea. In this article, the cases of three siblings who presented with primary amenorrhea and who had LCH were presented. Case: A 16-year-old patient with female phenotype is presented with primary amenorrhea. Breast development was at Tanner stage 1, the external genitalia were completely in female phenotype. The karyotype was determined as 46, XY. The hormonal analyses revealed that the testosterone synthesis was insufficient despite the high level of luteinizing hormone (LH). Cortisol, ACTH, 17-Hydroxyprogesterone, and AMH levels were normal. LCH diagnosis was considered in the patient with elevated LH and no testosterone synthesis. A new mutation of homozygous c.161 + 4A > G was detected in LHCGR gene. The same mutation was detected in the patient's two siblings with female phenotype and 46, XY karyotype. Conclusion: In patients presenting with primary amenorrhea and karyotype 46, XY, there is no testosterone synthesis and if there is LH elevation, LCH should be considered. We found a novel variant in the LHCGR gene in three siblings with karyotype 46, XY and female phenotype.en_US
dc.identifier.citationKarakaya, A. A., Ünal, E., Beştaş, A., Taş, F., Onay, H., Haspolat, Y. K. ve diğerleri. (2020). A novel variant in LCHGR gene in 3 siblings with type 1 leydig cell hypoplasia. Gynecological Endocrinology, 36(12), 1136-1139.en_US
dc.identifier.doi10.1080/09513590.2020.1789859
dc.identifier.endpage1139en_US
dc.identifier.issue12en_US
dc.identifier.pmid32654531
dc.identifier.scopus2-s2.0-85087780900
dc.identifier.scopusqualityQ2
dc.identifier.startpage1136en_US
dc.identifier.urihttps://hdl.handle.net/11468/8340
dc.identifier.volume36en_US
dc.identifier.wosWOS:000547624100001
dc.identifier.wosqualityQ3
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.institutionauthorKarakaya, Amine Aktar
dc.institutionauthorÜnal, Edip
dc.institutionauthorBeştaş, Aslı
dc.institutionauthorTaş, Funda
dc.institutionauthorHaspolat, Yusuf Kenan
dc.language.isoenen_US
dc.publisherTaylor & Francis Groupen_US
dc.relation.ispartofGynecological Endocrinology
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectLHCGR mutationen_US
dc.subjectLeydig cell hypoplasiaen_US
dc.subjectPrimary amenorrheaen_US
dc.titleA novel variant in LCHGR gene in 3 siblings with type 1 leydig cell hypoplasiaen_US
dc.titleA novel variant in LCHGR gene in 3 siblings with type 1 leydig cell hypoplasia
dc.typeArticleen_US

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