J Clin Immunol (2017) 37:524–528 DOI 10.1007/s10875-017-0412-8 ORIGINAL ARTICLE Delayed Puberty and Gonadal Failure in Patients with HAX1 Mutation 1 2 3 4 2 Sukru Cekic & Halil Saglam & Orhan Gorukmez & Tahsin Yakut & Omer Tarim & Sara S. Kilic Received: 7 November 2016 /Accepted: 12 June 2017 /Published online: 5 July 2017 Springer Science+Business Media, LLC 2017 Abstract female patients. It is crucial to follow up and evaluate the Purpose Homozygous mutations in the HAX1 gene cause gonadal functions of female patients in such cases. an autosomal recessive form of severe congenital neutro- penia (SCN). There are limited data on cases of gonadal . . insufficiency that involve the HAX1 gene mutation. We Keywords Severe congenital neutropenia HAX1 aimed to evaluate the pubertal development and gonadal hypergonadotropic hypogonadism growth retardation functions of our patients with a p.Trp44X mutation in the HAX1 gene. Method Pubertal development, physical and laboratory find- ings of one male and seven female patients with HAX1 defi- Introduction ciency were evaluated. Results The age of the patients was between 13 and 25 Severe congenital neutropenia (SCN) was described in a years. All female patients were diagnosed with primary Swedish family by Rolf Kostmann
Journal of Clinical Immunology – Springer Journals
Published: Jul 5, 2017
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