Leydig cell hypoplasia type 1 diagnosed in early childhood with inactivating mutation in LHCGR gene

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dc.authoridÖzgüç Çömlek, Fatma/0000-0002-2752-3480
dc.authoridYILDIZ, Raif/0000-0003-1636-1241
dc.authorwosidÖzgüç Çömlek, Fatma/ABS-9242-2022
dc.authorwosidYILDIZ, Raif/AAS-6045-2020
dc.contributor.authorComlek, Fatma Ozguc
dc.contributor.authorYildiz, Raif
dc.contributor.authorSeyrek, Fatma
dc.contributor.authorTutunculer, Filiz
dc.date.accessioned2024-06-12T11:07:38Z
dc.date.available2024-06-12T11:07:38Z
dc.date.issued2021
dc.departmentTrakya Üniversitesien_US
dc.description.abstractLeydig cell aplasia/hypoplasia is an autosomal recessive condition. In its complete form, these patients are 46XY but are cryptorchid and phenotypically female. Most cases reported in literature presented with in adolescence with pubertal delay. We reported a case with a predefined mutation in the LHCGR gene, presenting with swelling in the inguinal region and therefore diagnosed in early childhood. We wanted to emphasize the necessity of keeping Leydig cell hypoplasia in mind in the differential diagnosis of sexual development disorders in early childhood.en_US
dc.identifier.doi10.1093/omcr/omab015
dc.identifier.endpage155en_US
dc.identifier.issn2053-8855
dc.identifier.issue4en_US
dc.identifier.pmid33948188en_US
dc.identifier.scopus2-s2.0-85126688564en_US
dc.identifier.scopusqualityQ4en_US
dc.identifier.startpage153en_US
dc.identifier.urihttps://doi.org/10.1093/omcr/omab015
dc.identifier.urihttps://hdl.handle.net/20.500.14551/22116
dc.identifier.wosWOS:000698981300010en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherOxford Univ Pressen_US
dc.relation.ispartofOxford Medical Case Reportsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectLeydig Cellen_US
dc.subjectHypoplasiaen_US
dc.subjectSex Developmenten_US
dc.subjectLuteinizing-Hormone-Receptoren_US
dc.titleLeydig cell hypoplasia type 1 diagnosed in early childhood with inactivating mutation in LHCGR geneen_US
dc.typeArticleen_US

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