Background: Turner syndrome is one of the most common chromosomal disorders and is seen in 1:2500 female live births. The disease manifests with various clinical features and can be classified according to karyotype as monosomy, mosaicism, numeric, and structural abnormalities.
Objective and hypotheses: Patients with Turner syndrome have complicated with various manifestations congenital or acquired. In this study we aimed to emphasise the importance of awareness of all these findings and follow-up in adulthood.
Method: Study was performed via FAVOR Research Centre in which 842 patients from 35 centers in Turkey were registered.
Results: Mean age at diagnosis was 10.5±4.8 years. The most common complaints were short stature, delayed puberty, and dysmorphic appearance. Karyotype was 45,X in 50.7% of the patients. Other common karyotypes were 45,X/46,XX in 10.8%, 46,X,i(Xq) in 10%, 45,X/46,X,i(Xq) in 9.5%, 45,X/46,X,r(X) in 3.4%, 45,X/46,XY in 2.7%, 45,X/46,X,idic(Y) in 1.3%, and 45,X/46,X,+mar in 1.2%. SRY was searched in 125 patients and were positive in 24 (19.2%). Urinary system abnormalities were present in 16.4% of the patients and the most common abnormalities were horseshoe kidney, collecting system and rotation anomalies. Cardiac abnormalities were detected in 25%, the most frequent being e bicuspid aorta followed by coarctation of the aorta and aortic stenosis. Thyroid abnormalities were detected in 16.5% of patients including hypothyroidism and autoantibody positivity. Patients with isochromosome X (Xi) had higher frequency of auto-antibody positivity compared to other karyotype groups, although all karyotype groups were comparable for hypothyroidism. Gastrointestinal (GI) pathologies were present in 9%. The most common GI pathologies were high transaminase levels, celiac diseases and/or celiac antibody positivity and hepatosteatosis. Ear problems were found in 22% including recurrent otitis media, deafness, and history of tympanostomy. Psychosocial problems were encountered in 29.2%. Physical appearance and infertility risk were the most important factors to cause low self-esteem. Eye problems (strabismus, myopia, and ptosis) were seen in 8.8%. Dermatologic problems like nevus, psoriasis, alopecia, vitiligo, and keloid were seen in 21.8%. Insulin resistance and impaired fasting glucose frequencies were 3.3 and 2.2% respectively. Patients with Xi abnormality had more frequently insulin resistance (P=0.042) and impaired fasting glucose (P=0.003). Dyslipidemia prevalence was 11.3%.
Conclusion: This study demonstrates the frequency of abnormalities in a large group of patients with TS. Patients should to be examined periodically for these comorbidities in childhood and in transition to adulthood.
20 - 22 Sep 2014
European Society for Paediatric Endocrinology