ESPE Abstracts

Background: Turner syndrome (TS) is a genetic disorder related to complete or partial absense of the second X chromosome. TS is characterized by short stature, multiple skeletal anomalies, gonadal failure, autoimmune diseases and multiple congenital organ anomalies. This study aimed to determine phenotype and karyotype correlation and define the frequency of associated problems in TS patients.

Methods: Our retrospective study included 33 TS patients who were evaluated in Pediatric Endocrinology Clinic of Ankara Child Health and Diseases Hematology Oncology Training and Research Hospital, Turkey between 2010-2020 years.

Results: Mean diagnosis age was 8.1±4.5 years. The most frequent presenting complaint was short stature(87.9%). Cardiovascular pathologies were the most common congenital anomalies(39.4%). This was followed by renal anomalies(36.4%), dermatologic(15.2%), orthopedic(15.2%), ophthalmologic(12.1%) and audiological(12.1%) problems. The incidence of autoimmune disease was 51.5%. The most frequent autoimmune disease was Hashimoto's thyroiditis(45.5%). Growth hormone treatment was given to 29 patients(87.9%). The mean age of GH treatment initiation was 9.6±3.6 years. The mean duration of GH treatment was 4.8±2.7 years. Twenty-seven cases(81.8%) were reached the final height. The mean final height of these patients was 145.5±5.9 cm. According to karyotype groups, renal anomalies were found significantly higher in the monosomic group(p:0,008). Also autoimmune diseases were found significantly higher in the structural group(p:0,026). We could only reached 12 out of 19 TS patients aged 18 years. 11 of these patients (91.7%) had regular menstruation with oral contraceptive drugs. There was no case who got married or had children. When their educational status was questioned, it was learned that there were 4 students (33.3%) at university. Two patients (16.7%) were graduated from university, 4 patients (33.3%) were high school students and 2 patients (16.7%) were graduated from high school. Only 2 out of 33 patients (6.1%) had mild mental retardation.

Conclusions: Determining the phenotype-karyotype correlation and defining the frequency of associated problems in TS can help increase awareness and early diagnosis of TS. Early diagnosis will improve quality of life in TS patients and could prevent associated problems that may appear during adulthood.

Keywords: Turner syndrome, karyotype-phenotype correlation, associated problems