Delayed Puberty and Gonadal Failure in Patients with HAX1 Mutation

ÇEKİÇ Ş., SAĞLAM H., Gorukmez O., Yakut T., Tarim Ö. F. , Kilic S. Ş.

JOURNAL OF CLINICAL IMMUNOLOGY, vol.37, no.6, pp.524-528, 2017 (Peer-Reviewed Journal) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 37 Issue: 6
  • Publication Date: 2017
  • Doi Number: 10.1007/s10875-017-0412-8
  • Journal Indexes: Science Citation Index Expanded, Scopus
  • Page Numbers: pp.524-528
  • Keywords: Severe congenital neutropenia, HAX1, hypergonadotropic hypogonadism, growth retardation, SEVERE CONGENITAL NEUTROPENIA, PRIMARY OVARIAN INSUFFICIENCY, KOSTMANN-DISEASE, GROWTH-HORMONE, SEX STEROIDS, DEFICIENCY, IGF-1, GENE


Homozygous 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.