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Disease Markers
Volume 11, Issue 5-6, Pages 263-266

Increased Frequency of HLA B 17 Antigen in Girls with Turner Syndrome and their Fathers

C. Dacou-Voutetakis, N. Georgopoulos, H. Pappa, K. Vlachos, K. Tarassi, D. Chryssovergi, and Chr. Papasteriades

Endocrine Unit, First Paediatric Department, Athens University, Department of Immunology and Histocompatibility, Evangelismos Hospital, Athens, Greece

Received 5 January 1994

Copyright © 1993 Hindawi Publishing Corporation. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


HLA-A, -B and -DR antigen distribution was studied in 49 girls with Turner Syndrome (TS), in 43 of their parents, as well as in 433 controls. No increased frequency of DR3, DR4 was found in our group. However, an increased frequency of HLA B 17 antigen was disclosed (18.3% in TS versus 6.4% in the controls, p<0.001 and Pc<0.01). Furthermore, the HLA B 17 antigen was of paternal origin in 77.7% of the cases . The interpretation of the present findings is quite difficult. Most likely, the findings are related to the chromosomal abnormality rather than to autoimmunity. It is quite possible that genes within the region of class I genes create unfavorable circumstances leading to the loss of the sex chromosome or, alternatively, genes in this region confer protection and prevent miscarriage of the affected fetus.