ESPE Abstracts

Introduction: Turner syndrome (TS) is a genetic condition with different phenotypic expressions depending on karyotype. Due to genetic prenatal testing, its prevalence is getting lower. The objective was to analyze the presence of different comorbidities associated with TS according to the karyotype and evaluate if there is follow-up in adulthood.

Methods: Descriptive retrospective study including all the patients genetically diagnosed with Turner syndrome between 1984 to 2019 at our hospital. Patients were classified according to karyotype (monosomy X/mosaicism/isochromosome). Variables collected (growth hormone treatment, hormone replacement therapy and comorbidities such as celiac disease, thyroiditis, diabetes mellitus, arterial hypertension - HTN - osteoporosis, neuropsychological complications, neoplastic disease, renal or cardiologic disease). Follow-up to adulthood, gynecology screening and pregnancy were also registered.

Results: We analyzed the data of 70 patients (22 of them prenatally diagnosed and aborted, 48 postnatal diagnosed). We present data from 38 patients (median age of 32.6 years old, SD 17.7): 16 (42.1%) monosomy X, 14 (36.8%) mosaicism and 3 (7.8%) isochromosome. Fifty percent of patients had received growth hormone treatment (89% of them were born in the last 25 years), and 73% had used hormone replacement therapy. Comorbidities were found in 33 patients (86.6%): celiac disease (7.9%), thyroiditis (50%), diabetes mellitus (10.5%, 1 case I and the rest II), HTN (34.2%), osteoporosis (15.8%) and neuropsychological complications (31.6%). Neoplastic disease was registered in 3 patients (non gonadal tumors and none of them related to Y chromosome). Two of them were benign tumors and 1 patient died because of lung carcinoma. Echocardiographic screening was done in 81.6% of patients (4 cases of bicuspid aortic valve, 2 coarctation of the aorta and 3 aorta dilatation). Renal echography was realized in 81.5% of patients (normal 27 cases, 3 cases of renal fusion and 1 case of abnormal renal rotation). All the patients with isochromosome had autoimmune disorder, while only in 50% of monosomy X and 60% of mosaicism was found. Transition from pediatric to adult healthcare had been done in 52.6% of patients older than 18 years of age. Sixty-three % had gynecology screening and 7.9% of women achieved pregnancy.

Conclusions: • Comorbidities are the main issue in follow-up of TS as most patients present • Since most patients do not have follow-up in adulthood, it is important to take special care on transition from pediatric to adult healthcare.