Delayed puberty and gonadal failure in patients with hax1 mutation
Date
2017-06-12
Authors
Görükmez, Orhan
Journal Title
Journal ISSN
Volume Title
Publisher
Springer
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. 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.
Description
Keywords
Immunology, Growth retardation, HAX1, Hypergonadotropic hypogonadism, Severe congenital neutropenia, Primary ovarian insufficiency, Kostmann-disease, Growth-hormone, Sex steroids, Deficiency, Igf-1, Gene
Citation
Çekiç, Ş. vd. (2017). ''Delayed puberty and gonadal failure in patients with hax1 mutation''. Journal of Clinical Immunology, 37(6), 524-528.