Delayed puberty and gonadal failure in patients with hax1 mutation

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dc.contributor.authorGörükmez, Orhan
dc.contributor.buuauthorÇekiç, Şükrü
dc.contributor.buuauthorSaǧlam, Halil
dc.contributor.buuauthorYakut, Tahsin
dc.contributor.buuauthorTarım, Ömer
dc.contributor.buuauthorKılıç, Sara Şebnem
dc.contributor.departmentUludağ Üniversitesi/Tıp Fakültesi/Çocuk İmmünoloji Anabilim Dalı.tr_TR
dc.contributor.departmentUludağ Üniversitesi/Tıp Fakültesi/Çocuk Endokrinoloji Anabilim Dalı.tr_TR
dc.contributor.orcid0000-0002-9574-1842tr_TR
dc.contributor.orcid0000-0003-0710-5422tr_TR
dc.contributor.orcid0000-0001-8571-2581tr_TR
dc.contributor.researcheridL-1933-2017tr_TR
dc.contributor.researcheridC-7392-2019tr_TR
dc.contributor.researcheridAAH-1658-2021tr_TR
dc.contributor.scopusid56117061000tr_TR
dc.contributor.scopusid35612700100tr_TR
dc.contributor.scopusid6602802424tr_TR
dc.contributor.scopusid6701427186tr_TR
dc.contributor.scopusid34975059200tr_TR
dc.date.accessioned2023-02-21T07:36:59Z
dc.date.available2023-02-21T07:36:59Z
dc.date.issued2017-06-12
dc.description.abstractHomozygous mutations in the HAX1 gene cause an autosomal recessive form of severe congenital neutropenia (SCN). There are limited data on cases of gonadal insufficiency that involve the HAX1 gene mutation. We aimed to evaluate the pubertal development and gonadal functions of our patients with a p.Trp44X mutation in the HAX1 gene. Pubertal development, physical and laboratory findings of one male and seven female patients with HAX1 deficiency were evaluated. The age of the patients was between 13 and 25 years. All female patients were diagnosed with primary ovarian insufficiency (POI) based on amenorrhea and elevated gonadotropins. The ovary volumes in female patients were determined to be smaller than normal for their age through sonographic studies. Short stature associated with gonadal insufficiency was also observed in three patients. The HAX1 gene is important for ovarian development, in which a p.Trp44X mutation may cause POI in female patients. It is crucial to follow up and evaluate the gonadal functions of female patients in such cases.en_US
dc.identifier.citationÇekiç, Ş. vd. (2017). ''Delayed puberty and gonadal failure in patients with hax1 mutation''. Journal of Clinical Immunology, 37(6), 524-528.en_US
dc.identifier.endpage528tr_TR
dc.identifier.issn0271-9142
dc.identifier.issn1573-2592
dc.identifier.issue6tr_TR
dc.identifier.pubmed28681255tr_TR
dc.identifier.scopus2-s2.0-85021834970tr_TR
dc.identifier.startpage524tr_TR
dc.identifier.urihttps://doi.org/10.1007/s10875-017-0412-8
dc.identifier.urihttps://link.springer.com/article/10.1007/s10875-017-0412-8
dc.identifier.urihttp://hdl.handle.net/11452/31067
dc.identifier.volume37tr_TR
dc.identifier.wos000407597600007tr_TR
dc.indexed.pubmedPubMeden_US
dc.indexed.scopusScopusen_US
dc.indexed.wosSCIEen_US
dc.language.isoenen_US
dc.publisherSpringeren_US
dc.relation.collaborationSanayitr_TR
dc.relation.journalJournal of Clinical Immunologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergitr_TR
dc.relation.tubitakSBAG-HD-650 (110S513)tr_TR
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectImmunologyen_US
dc.subjectGrowth retardationen_US
dc.subjectHAX1en_US
dc.subjectHypergonadotropic hypogonadismen_US
dc.subjectSevere congenital neutropeniaen_US
dc.subjectPrimary ovarian insufficiencyen_US
dc.subjectKostmann-diseaseen_US
dc.subjectGrowth-hormoneen_US
dc.subjectSex steroidsen_US
dc.subjectDeficiencyen_US
dc.subjectIgf-1en_US
dc.subjectGeneen_US
dc.subject.emtreeGonadotropinen_US
dc.subject.emtreeHCLS1 associated protein X 1en_US
dc.subject.emtreeProteinen_US
dc.subject.emtreeUnclassified drugen_US
dc.subject.emtreeHAX1 protein, humanen_US
dc.subject.emtreeSignal transducing adaptor proteinen_US
dc.subject.emtreeAdolescenten_US
dc.subject.emtreeAdulten_US
dc.subject.emtreeAmenorrheaen_US
dc.subject.emtreeArticleen_US
dc.subject.emtreeClinical articleen_US
dc.subject.emtreeDelayed pubertyen_US
dc.subject.emtreeDisease associationen_US
dc.subject.emtreeEchographyen_US
dc.subject.emtreeFemaleen_US
dc.subject.emtreeGene mutationen_US
dc.subject.emtreeGonadotropin blood levelen_US
dc.subject.emtreeHumanen_US
dc.subject.emtreeHypogonadismen_US
dc.subject.emtreeMaleen_US
dc.subject.emtreeOrgan sizeen_US
dc.subject.emtreeOvaryen_US
dc.subject.emtreePremature ovarian failureen_US
dc.subject.emtreePriority journalen_US
dc.subject.emtreeShort statureen_US
dc.subject.emtreeYoung adulten_US
dc.subject.emtreeChromosome disorderen_US
dc.subject.emtreeDelayed pubertyen_US
dc.subject.emtreeDna mutational analysisen_US
dc.subject.emtreeGeneticsen_US
dc.subject.emtreeHomozygoteen_US
dc.subject.emtreeMutationen_US
dc.subject.emtreeNeutropeniaen_US
dc.subject.emtreePedigreeen_US
dc.subject.emtreePhysiologyen_US
dc.subject.meshAdaptor proteins, signal transducingen_US
dc.subject.meshAdolescenten_US
dc.subject.meshAdulten_US
dc.subject.meshChromosome disordersen_US
dc.subject.meshDNA mutational analysisen_US
dc.subject.meshFemaleen_US
dc.subject.meshHomozygoteen_US
dc.subject.meshHumansen_US
dc.subject.meshMaleen_US
dc.subject.meshMutationen_US
dc.subject.meshNeutropeniaen_US
dc.subject.meshOvaryen_US
dc.subject.meshPedigreeen_US
dc.subject.meshPuberty, delayeden_US
dc.subject.meshYoung adulten_US
dc.subject.scopusMutation; Granulocyte Colony Stimulating Factor Receptor; Chronic Neutrophilic Leukemiaen_US
dc.subject.wosImmunologyen_US
dc.titleDelayed puberty and gonadal failure in patients with hax1 mutationen_US
dc.typeArticle
dc.wos.quartileQ2en_US

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