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Delayed Puberty and Gonadal Failure in Patients with HAX1 Mutation

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Abstract

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.

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Acknowledgments

This study was supported through “The Scientific and Technological Research Council of Turkey (TUBITAK)”. TUBITAK-Project No.: SBAG-HD-650 (110S513).

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Authors and Affiliations

  1. Division of Pediatric Immunology, Uludag University Faculty of Medicine, Görükle, 16059, Bursa, Turkey

    Sukru Cekic & Sara S. Kilic

  2. Division of Pediatric Endocrinology, Uludag University Faculty of Medicine, Görükle, 16059, Bursa, Turkey

    Halil Saglam & Omer Tarim

  3. Bursa High Specialty Training and Research Hospital, Department of Medical Genetics, Yildirim, 16310, Bursa, Turkey

    Orhan Gorukmez

  4. Department of Medical Genetics, Uludag University Faculty of Medicine, Görükle, 16059, Bursa, Turkey

    Tahsin Yakut

Authors
  1. Sukru Cekic
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  2. Halil Saglam
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  3. Orhan Gorukmez
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  4. Tahsin Yakut
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  5. Omer Tarim
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  6. Sara S. Kilic
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Corresponding author

Correspondence to Sara S. Kilic.

Ethics declarations

The study was approved by the ethical committee of the Uludag University Faculty of Medicine.

Conflict of Interest

The authors declare that they have no conflicts of interest.

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Cekic, S., Saglam, H., Gorukmez, O. et al. Delayed Puberty and Gonadal Failure in Patients with HAX1 Mutation. J Clin Immunol 37, 524–528 (2017). https://doi.org/10.1007/s10875-017-0412-8

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  • DOI: https://doi.org/10.1007/s10875-017-0412-8

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