Endocrine Abstracts

Introduction: Many studies demonstrated that 40%-60% of Turner patients were 45,X monosomy in blood lymphocytes, whereas the remaining patients had a structurally abnormal X- or Y-chromosome or were mosaics with a second cell line containing a normal or an abnormal sex chromosome.

Case Summary : Five years old girl was brought to pediatric clinic for short stature. On exam, her height was 92 cm (<3th percentile), body weight was 13.3 kg (<3th percentile). She had neither cubitus valgus deformity nor webbed neck. Knuckle sign was negative. Audiometry, echocardiography, kidney ultrasonography were all immature. Her karyotyping revealed 45,X and FISH analysis indicated that the SRY gene was positive. After diagnosis of Turner syndrome, growth hormone had been given for the treatment of short stature. At the age of fifteen, her height was 149 cm (+2 SD) and her body weight was 68 kg (>97th percentile). Estradiol replacement was started at the age of 15 years and 10 months. On pelvic echography, the uterus and both fallopian tubes looked immature, but both gonads looked streak in appearance. Because SRY gene was positive, exploratory laparoscopy was indicated for prophylactic removal of dysgenetic gonads.

Conclusion : It is recommended that individuals with Turner syndrome be screened for Y chromatin. Detection of this will provide information and guidance to individuals with Turner syndrome, especially in terms of the risk of developing gonadoblastoma, with advanced clinical consultation.