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 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 37 Issue: 6
  • Publication Date: 2017
  • Doi Number: 10.1007/s10875-017-0412-8
  • Journal Name: JOURNAL OF CLINICAL IMMUNOLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-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
  • Bursa Uludag University Affiliated: Yes

Abstract

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.