A rare cause of primary amenorrhea: LHCGR gene mutations

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dc.contributor.authorKarakaya, Amine Aktar
dc.contributor.authorCayir, Atilla
dc.contributor.authorUnal, Edip
dc.contributor.authorBestas, Asli
dc.contributor.authorSolmaz, Asli Ece
dc.contributor.authorHaspolat, Yusuf Kenan
dc.date.accessioned2024-04-24T16:11:21Z
dc.date.available2024-04-24T16:11:21Z
dc.date.issued2022
dc.departmentDicle Üniversitesien_US
dc.description.abstractIntroduction: The luteinizing hormone/choriogonadotropin receptor (LHCGR) plays a critical role in sexual differentiation and reproductive functions in men and women. Inactivating mutations in this gene lead to Leydig cell hypoplasia (LCH), and cause disorders of sex development (DSD) in patients with 46,XY. In this study, it was aimed to discuss the clinical, laboratory and molecular genetic analysis results of nine patients with 46,XY karyotype who had mutations in the LHCGR gene.Materials and methods: The ages, complaints, anthropometric measurements and hormonal results (follicle stimulating hormone (FSH), luteinizing hormone (LH), testosterone) of the patients at the time of admission were recorded retrospectively from their medical records. The mutations in the LHCGR gene were investigated using the Sanger sequencing method.Findings: In this study, LHCGR gene mutations were detected in a total of nine patients as a result of the analysis of the index patients presenting with primary amenorrhea from four different families and the examination of the families. In the first three families with no consanguinity between, the same mutation was detected in seven patients in total (Homozygous c.161 + 4A > G). A different mutation was detected in the fourth family (Homozygous p.A483D c.1448C > A).Conclusion: In this study, nine patients with karyotype 46,XY, most of whom presented with the complaint of delayed puberty/primary amenorrhea, were diagnosed with LCH. Especially in patients, in whom the elevation of LH is pronounced and there is no testosterone synthesis, LCH should be considered.en_US
dc.identifier.doi10.1016/j.ejogrb.2022.03.033
dc.identifier.endpage197en_US
dc.identifier.issn0301-2115
dc.identifier.issn1872-7654
dc.identifier.pmid35366614
dc.identifier.scopus2-s2.0-85127137696
dc.identifier.scopusqualityQ2
dc.identifier.startpage193en_US
dc.identifier.urihttps://doi.org/10.1016/j.ejogrb.2022.03.033
dc.identifier.urihttps://hdl.handle.net/11468/15360
dc.identifier.volume272en_US
dc.identifier.wosWOS:000794015200016
dc.identifier.wosqualityQ3
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoenen_US
dc.publisherElsevieren_US
dc.relation.ispartofEuropean Journal of Obstetrics & Gynecology and Reproductive Biology
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectLeydig Cell Hypoplasiaen_US
dc.subjectLhcgren_US
dc.subjectPrimary Amenorrheaen_US
dc.titleA rare cause of primary amenorrhea: LHCGR gene mutationsen_US
dc.titleA rare cause of primary amenorrhea: LHCGR gene mutations
dc.typeArticleen_US

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