PP14. A CASE OF ULLRICH-TURNER SYNDROME WITH 45,X (%73.4)/46,XY (%27.7) KARYOTYPE DEVELOPED GONADOBLASTOMA
EBRU ETEM, Hüseyin Yüce Firat University, Firat Medical Center, Medical Biology and Genetic Department, 23119, Elazig, TURKEY e-mail: ebruetem@gmail.com
*Corresponding Author:
page: 54

Abstract

The presence of mosaic 45,X/46,XY is a very rare chromosomal anomaly, with an incidence of about 1.5 per 10.000 in newborn infants and in midtrimester amniocentesis. The phenotype can vary from a normal male to a classical Ullrich-Turner syndrome (UTS). This patients are often infertile. The proposita presented at short stature, primary amenorrhea and hypoplasic uterus. Clinical examination revealed multiple Turner syndrome stigmata. Proposita karyotype was determined as 45,X (%73.4)/46,XY (%27.7) by cytogenetic analysis of peripheral blood. We performed molecular genetic analysis for Y chromosomal loci (SRY, ZFY, SY84, SY86, SY127, SY134, SY254, SY255). Case was posi tive for all sequences tested. Case developed a gonadoblastoma with dysgerminoma. Adequate counseling regarding a gonadectomy should be given because of the high proportion (33%) of gonadal tumors in patients with Y-chromosome sequences. It is impotant to determine definitely mosaicism rate, presence of Y chromosome and sex in UTS patients in terms of prognosis of the disease. It has been presented the importance of the presence Y chromosome in patients with UTS and genetic counseling process labaratory findings in this relatively rare seen case by discussing in view of the literature.



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