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European Journal of Pediatrics

, Volume 158, Issue 3, pp 217–220 | Cite as

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
  • C. Dame
  • N. Albers
  • C. Hasan
  • U. Bode
  • A. Eigel
  • M. Hansmann
  • R. Brenner
  • P. Bartmann
MEDICAL GENETICS

Abstract

Fetuses with homozygous α-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. In 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 α-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 α-thalassaemia.

Key wordsα-Thalassaemia Hb Bart's Hydrops fetalis Genital ambiguity Intrauterine transfusions 

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Copyright information

© Springer-Verlag Berlin Heidelberg 1999

Authors and Affiliations

  • C. Dame
    • 1
  • N. Albers
    • 1
  • C. Hasan
    • 1
  • U. Bode
    • 1
  • A. Eigel
    • 2
  • M. Hansmann
    • 3
  • R. Brenner
    • 1
  • P. Bartmann
    • 1
  1. 1.Children's Hospital, University of Bonn, Adenauerallee 119, D-53113 Bonn, Germany, E-mail: dame@uni-bonn.de, Tel.: 0049/228/287-3408, Fax: 0049/228/287-3416DE
  2. 2.Institute of Human Genetics, University of Münster, Münster, GermanyDE
  3. 3.Department for Prenatal Diagnosis and Therapy, University of Bonn, Bonn, GermanyDE

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