ESPE Abstracts

A rare case of a 4-year-old boy with a SRY-positive 45, X karyotype was presented. Family history of the child was not remarkable. His height and weight were -2.1 SD and -1.4 SD, respectively. Physical examination revealed a well-developed penis with hypospadias. His right testis was in the scrotum and the left testis was not palpable. In previous inguinal exploration recordings, unilateral testicular agenesis on the left side were noted. The right testis was biopsied and prepubertal testis tissue was pathologically confirmed. There was no ovarian tissue in the material. Also, no ovary was found in the laparotomy examination. Chromosomal analysis was carried out on peripheral blood of the patient with unilateral testicular agenesis and hypospadias on his first admission to the hospital, which demonstrated a 45X karyotype. In FISH analysis, SRY positivity was found to be 10%. SRY gene is a single-exon gene. It is important role as primary testis- determining gene in normal testis development. The presence of SRY gene in Turner syndrome is necessary to prevent the development of tumoral or nontumoral gonadal lesion, even if karyotyping does not detect Y chromosome material.