Delayed Puberty and Gonadal Failure in Patients with HAX1 Mutation

Purpose 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 wi...

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Bibliographic Details
Published in:Journal of clinical immunology 2017-08, Vol.37 (6), p.524-528
Main Authors: Cekic, Sukru, Saglam, Halil, Gorukmez, Orhan, Yakut, Tahsin, Tarim, Omer, Kilic, Sara S.
Format: Article
Language:English
Subjects:
Amenorrhea
Biomedical and Life Sciences
Biomedicine
Gonadotropins
HAX1 gene
Immunology
Infectious Diseases
Internal Medicine
Medical Microbiology
Mutation
Neutropenia
Original Article
Pituitary (anterior)
Point mutation
Puberty
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Summary:Purpose 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. Method Pubertal development, physical and laboratory findings of one male and seven female patients with HAX1 deficiency were evaluated. Results 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. Conclusion 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.
ISSN:0271-9142
1573-2592
DOI:10.1007/s10875-017-0412-8