Abstract：
BACKGROUND: The H syndrome is an autosomal recessive disease characterized by hyperpigmentation, hypertrichosis and sensorineural hearing loss.
METHODS: A mutation in the coding of the human equilibrative nucleoside transporter 3 (hENT3) within the SLC29A3 gene on chromosome 10q22 leads to the manifestation of this disease. In this report, we present two cases of H syndrome.
RESULTS: The first patient exhibits hyperpigmentation, hypogonadism, Type 1 diabetes mellitus, arthritis and osteoporosis. The second patient experiences hyperpigmentation, hypertrichosis, osteopenia and hypogonadism.
CONCLUSIONS: Our objective is to broaden the clinical spectrum of H syndrome, highlighting the involvement of arthritis, hyperinflammation and low bone mineral density in individuals with this disorder.
METHODS: A mutation in the coding of the human equilibrative nucleoside transporter 3 (hENT3) within the SLC29A3 gene on chromosome 10q22 leads to the manifestation of this disease. In this report, we present two cases of H syndrome.
RESULTS: The first patient exhibits hyperpigmentation, hypogonadism, Type 1 diabetes mellitus, arthritis and osteoporosis. The second patient experiences hyperpigmentation, hypertrichosis, osteopenia and hypogonadism.
CONCLUSIONS: Our objective is to broaden the clinical spectrum of H syndrome, highlighting the involvement of arthritis, hyperinflammation and low bone mineral density in individuals with this disorder.
摘要：
背景：H综合征是一种以色素沉着过度为特征的常染色体隐性疾病，多毛症和感音神经性听力损失。
方法：染色体10q22上的SLC29A3基因内的人平衡核苷转运蛋白3（hENT3）的编码突变导致这种疾病的表现。在这份报告中,我们介绍了2例H综合征。
结果：首例患者出现色素沉着过度，性腺功能减退,1型糖尿病,关节炎和骨质疏松症。第二位患者出现色素沉着过度,多毛症,骨质减少和性腺功能减退。
结论：我们的目标是拓宽H综合征的临床范围，强调关节炎的参与，这种疾病患者的炎症过度和骨矿物质密度低。
方法：染色体10q22上的SLC29A3基因内的人平衡核苷转运蛋白3（hENT3）的编码突变导致这种疾病的表现。在这份报告中,我们介绍了2例H综合征。
结果：首例患者出现色素沉着过度，性腺功能减退,1型糖尿病,关节炎和骨质疏松症。第二位患者出现色素沉着过度,多毛症,骨质减少和性腺功能减退。
结论：我们的目标是拓宽H综合征的临床范围，强调关节炎的参与，这种疾病患者的炎症过度和骨矿物质密度低。
