Division of Pediatric Immunology, Uludag University Faculty of Medicine, Görükle, 16059, Bursa, Turkey.
Division of Pediatric Endocrinology, Uludag University Faculty of Medicine, Görükle, 16059, Bursa, Turkey.
J Clin Immunol. 2017 Aug;37(6):524-528. doi: 10.1007/s10875-017-0412-8. Epub 2017 Jul 5.
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.
HAX1 基因中的纯合突变导致常染色体隐性严重先天性中性粒细胞减少症（SCN）。关于涉及 HAX1 基因突变的性腺功能不全病例的数据有限。我们旨在评估携带 HAX1 基因 p.Trp44X 突变的患者的青春期发育和性腺功能。
评估了 1 名男性和 7 名 HAX1 缺乏症女性患者的青春期发育、体格检查和实验室检查结果。
患者年龄在 13 至 25 岁之间。所有女性患者均因闭经和促性腺激素升高而被诊断为原发性卵巢功能不全（POI）。通过超声研究确定女性患者的卵巢体积小于其年龄的正常大小。三名患者还存在与性腺功能不全相关的身材矮小。
HAX1 基因对卵巢发育很重要，p.Trp44X 突变可能导致女性患者的 POI。在这种情况下，对女性患者的性腺功能进行随访和评估至关重要。
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