PDF(Pubmed)
Abstract：
BACKGROUND: The nucleoside transport capabilities of the human equilibrative nucleoside transporter-3 (hENT3) are disrupted by mutations in SLC29A3 (10q22.2), which are genes for the nucleoside transporter and are the cause of the unusual autosomal recessive disease known as H syndrome. As a result, histiocytic cells invade a number of organs.
METHODS: A 17-year-old Syrian male was admitted to the internal medicine department with a one-month history of polyuria, polydipsia, general weakness, and pallor. He had a history of progressive bilateral sensorineural hearing loss and failure to gain weight for three years. Physical examination revealed various abnormalities, including scrotal mass, small penis and testicles, absence of pubic and axillary hair, joint abnormalities, short stature, hallux valgus, fibrous protrusion near the navel, and hyperpigmented non-itchy painful skin plaques. Clinical signs along with laboratory test results confirmed hyperglycemia, primary hypogonadism, osteopenia, and growth hormone deficiency. After a review of the relevant medical literature, this patient\'s presentation of hyperglycemia with hypogonadism, hyperpigmentation, hallux valgus, hearing loss, hematological abnormalities, and short stature suggested the diagnosis of H syndrome. The patient received treatment with insulin and testosterone, leading to a significant improvement in his presenting symptoms.
CONCLUSIONS: H syndrome is a very rare condition, and the fact that the first case has only recently been reported in Syria serves to emphasize how rare it is. H Syndrome should be suspected if a patient has short stature with signs of hyperglycemia and other endocrine and cutaneous abnormalities. We are reporting this case to increase physicians\' awareness of this exceedingly rare and unique syndrome.
METHODS: A 17-year-old Syrian male was admitted to the internal medicine department with a one-month history of polyuria, polydipsia, general weakness, and pallor. He had a history of progressive bilateral sensorineural hearing loss and failure to gain weight for three years. Physical examination revealed various abnormalities, including scrotal mass, small penis and testicles, absence of pubic and axillary hair, joint abnormalities, short stature, hallux valgus, fibrous protrusion near the navel, and hyperpigmented non-itchy painful skin plaques. Clinical signs along with laboratory test results confirmed hyperglycemia, primary hypogonadism, osteopenia, and growth hormone deficiency. After a review of the relevant medical literature, this patient\'s presentation of hyperglycemia with hypogonadism, hyperpigmentation, hallux valgus, hearing loss, hematological abnormalities, and short stature suggested the diagnosis of H syndrome. The patient received treatment with insulin and testosterone, leading to a significant improvement in his presenting symptoms.
CONCLUSIONS: H syndrome is a very rare condition, and the fact that the first case has only recently been reported in Syria serves to emphasize how rare it is. H Syndrome should be suspected if a patient has short stature with signs of hyperglycemia and other endocrine and cutaneous abnormalities. We are reporting this case to increase physicians\' awareness of this exceedingly rare and unique syndrome.
摘要：
背景：人平衡核苷转运蛋白3（hENT3）的核苷转运能力被SLC29A3（10q22.2）中的突变破坏，这些基因是核苷转运蛋白的基因，是导致称为H综合征的不寻常常染色体隐性疾病的原因。因此,组织细胞侵入许多器官。
方法：一名17岁的叙利亚男性因一个月多尿史入院内科，多饮,一般的弱点，脸色苍白.他有进行性双侧感觉神经性听力损失和体重增加三年的病史。体格检查发现各种异常，包括阴囊肿块,小阴茎和睾丸,没有阴毛和腋毛，关节异常,身材矮小,外翻,肚脐附近的纤维突起，和色素沉着不瘙痒疼痛的皮肤斑块。临床症状和实验室检查结果证实高血糖，原发性性腺功能减退,骨质减少,生长激素缺乏症.在回顾了相关的医学文献后，该患者表现为伴有性腺功能减退的高血糖症，色素沉着过度,外翻,听力损失,血液学异常,身材矮小提示H综合征的诊断。患者接受胰岛素和睾酮治疗，导致他的症状明显改善。
结论：H综合征是一种非常罕见的疾病，事实上，第一例只是最近才在叙利亚报告，这强调了它是多么罕见。如果患者身材矮小，伴有高血糖和其他内分泌和皮肤异常，应怀疑H综合征。我们报告这种情况是为了提高医生对这种极其罕见和独特的综合征的认识。
方法：一名17岁的叙利亚男性因一个月多尿史入院内科，多饮,一般的弱点，脸色苍白.他有进行性双侧感觉神经性听力损失和体重增加三年的病史。体格检查发现各种异常，包括阴囊肿块,小阴茎和睾丸,没有阴毛和腋毛，关节异常,身材矮小,外翻,肚脐附近的纤维突起，和色素沉着不瘙痒疼痛的皮肤斑块。临床症状和实验室检查结果证实高血糖，原发性性腺功能减退,骨质减少,生长激素缺乏症.在回顾了相关的医学文献后，该患者表现为伴有性腺功能减退的高血糖症，色素沉着过度,外翻,听力损失,血液学异常,身材矮小提示H综合征的诊断。患者接受胰岛素和睾酮治疗，导致他的症状明显改善。
结论：H综合征是一种非常罕见的疾病，事实上，第一例只是最近才在叙利亚报告，这强调了它是多么罕见。如果患者身材矮小，伴有高血糖和其他内分泌和皮肤异常，应怀疑H综合征。我们报告这种情况是为了提高医生对这种极其罕见和独特的综合征的认识。
