Homozygous α-thalassaemia and hypospadias -: common aetiology or incidental association?: Long-term survival of Hb Bart's hydrops syndrome leads to new aspects for counselling of α-thalassaemic traits
Homozygous α-thalassaemia and hypospadias -: common aetiology or incidental association?: Long-term survival of Hb Bart's hydrops syndrome leads to new aspects for counselling of α-thalassaemic traits
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DOI：
10.1007/s004310051053
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发表时间：
1999-03-01
影响因子：
3.6
通讯作者：
Bartmann, P
中科院分区：
文献类型：
--
作者：
Dame, C;Albers, N;Bartmann, P
患有纯合子α-地中海贫血的胎儿发展为Hb Bart水肿胎儿综合征，其通常导致流产或胎儿/新生儿死亡。我们报告的诊断，宫内输血治疗，新生儿重症监护管理和长期随访的越南婴儿谁幸存的血红蛋白巴特水肿胎儿综合征。在最初的两年里，孩子的发育正常。此外，患者表现出阴茎阴囊尿道下裂。尽管进行了彻底的内分泌检查，但无法阐明生殖器模糊的病因。文献回顾显示，在所有幸存的男性儿童的纯合子α-地中海贫血和尿道下裂的关联，这表明一个共同的病因为两个Entities.Conclusion根据我们的研究结果，我们推测，一个未知的基因在染色体16负责生殖器的形成是改变纯合子α-地中海贫血。
Fetuses with homozygous a-thalassaemia develop Hb Bart's hydrops fetalis syndrome, which usually leads either to abortion or fetal/neonatal death. We report diagnosis, intrauterine transfusion therapy, neonatal intensive care management and long-term follow-up of a Vietnamese infant who survived Hb Bart's hydrops fetalis syndrome. During the first 2 years the child had normal development. Tn addition, the patient exhibited penoscrotal hypospadias. Despite a thorough endocrinological work-up the aetiology of genital ambiguity could not be elucidated. A review of the literature showed an association of homozygous alpha-thalassaemia and hypospadias in all surviving male children, suggesting a common aetiology for both entities.Conclusion On the basis of our findings,we speculate that an unknown gene on chromosome 16 responsible for genital formation is altered in homozygous alpha-thalassaemia.