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Annals of Hematology

, Volume 78, Issue 9, pp 431–434 | Cite as

A dispermic chimerism in a 2-year-old Caucasian boy

  • L. M. Repas-Humpe
  • A. Humpe
  • R. Lynen
  • B. Glock
  • E. M. Dauber
  • G. Simson
  • W. R. Mayr
  • M. Köhler
  • S. Eber
CASE REPORT

Abstract

 Detection of two different cell populations in a child is a rare event. The following case of a dispermic chimera was diagnosed before surgery due to problems in blood group determination. A 2-year-old phenotypically male child was admitted for correction of a penoscrotal hypospadia and unilateral cryptorchism. During presurgical laboratory investigation, difficulties in blood group determination occurred. Blood group typing was performed by the DiaMed-ID Micro Typing System and by FACS. Additionally, cytogenetic analysis of lymphocytes and analysis of DNA polymorphisms in different tissues were performed. Two populations of red blood cells were detected, 0 cells accounting for 75% and B cells for 25%. Analysis of DNA-PCR polymorphisms in lymphocytes, nails, and in cells of the oral mucous membrane demonstrated a chimerism, with two alleles inherited from the father and one from the mother. A cytogenetic analysis of cultured lymphocytes showed a mosaic 46,XY/46,XX. Surgery revealed a prostatic utricle grade III, also called pseudovagina; genitography confirmed a vagina. Bilateral gonad biopsy showed a testis on one side and an ovary on the other. This case of chimerism represents a true hermaphroditism that most probably developed by double fertilization of one or more egg nuclei by two sperms.

Key words Dispermic chimerism DNA polymorphism True hermaphroditism 

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Copyright information

© Springer-Verlag Berlin Heidelberg 1999

Authors and Affiliations

  • L. M. Repas-Humpe
    • 1
  • A. Humpe
    • 2
  • R. Lynen
    • 2
  • B. Glock
    • 3
  • E. M. Dauber
    • 3
  • G. Simson
    • 2
  • W. R. Mayr
    • 3
  • M. Köhler
    • 2
  • S. Eber
    • 1
  1. 1.Department of Pediatrics, University Hospital of Göttingen, Robert-Koch-Strasse 40, D-37075 Göttingen, Germany e-mail: ahumpe@med.uni-goettingen.de, Tel.: 0049-551-39-6989, Fax: 0049-551-39-6231DE
  2. 2.Department of Transfusion Medicine, University Hospital of Göttingen, Robert-Koch-Strasse 40, D-37075 Göttingen, GermanyDE
  3. 3.Department of Blood Group Serology, University Hospital of Vienna, AustriaAT

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