Görükmez, Orhan2023-02-212023-02-212017-06-12Çekiç, Ş. vd. (2017). ''Delayed puberty and gonadal failure in patients with hax1 mutation''. Journal of Clinical Immunology, 37(6), 524-528.0271-91421573-2592https://doi.org/10.1007/s10875-017-0412-8https://link.springer.com/article/10.1007/s10875-017-0412-8http://hdl.handle.net/11452/31067Homozygous 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.eninfo:eu-repo/semantics/closedAccessImmunologyGrowth retardationHAX1Hypergonadotropic hypogonadismSevere congenital neutropeniaPrimary ovarian insufficiencyKostmann-diseaseGrowth-hormoneSex steroidsDeficiencyIgf-1GeneAdaptor proteins, signal transducingAdolescentAdultChromosome disordersDNA mutational analysisFemaleHomozygoteHumansMaleMutationNeutropeniaOvaryPedigreePuberty, delayedYoung adultArticle0004075976000072-s2.0-8502183497052452837628681255ImmunologyMutation; Granulocyte Colony Stimulating Factor Receptor; Chronic Neutrophilic LeukemiaGonadotropinHCLS1 associated protein X 1ProteinUnclassified drugHAX1 protein, humanSignal transducing adaptor proteinAdolescentAdultAmenorrheaArticleClinical articleDelayed pubertyDisease associationEchographyFemaleGene mutationGonadotropin blood levelHumanHypogonadismMaleOrgan sizeOvaryPremature ovarian failurePriority journalShort statureYoung adultChromosome disorderDelayed pubertyDna mutational analysisGeneticsHomozygoteMutationNeutropeniaPedigreePhysiology