ESPE Abstracts (2014) 82 P-D-2-3-613

Nationwide Study of Turner Syndrome During Childhood in Turkey: Evaluation of Associated Problems

Ediz Yesilkayaa, Feyza Darendelilerb, Abdullah Bereketc, Firdevs Basb, Sukran Poyrazoglub, Banu Kucukemre Aydinb, Sukran Darcand, Bumin Dundare, Muammer Buyukinanf, Cengiz Karag, Erkan Saria, Erdal Adalh, Aysehan Akincii, Mehmet Emre Atabekj, Fatma Demirelk, Nurullah Celikl, Behzat Ozkanm, Bayram Ozhann, Peyami Cinazl & Pediatric Endocrinology Turner Study Groupo

aGulhane Military Medicine Academy, Ankara, Turkey; bIstanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey; cFaculty of Medicine, Marmara University, Istanbul, Turkey; dFaculty of Medicine, Ege University, Izmir, Turkey; eFaculty of Medicine, Katip Çelebi University, Izmir, Turkey; fKonya Training and Research Hospital, Izmir, Turkey; gFaculty of Medicine, 19 Mayis University, Samsun, Turkey; hKanuni Sultan Suleyman Education and Research Hospital, Istanbul, Turkey; iFaculty of Medicine, Inönü University, Malatya, Turkey; jFaculty of Medicine, Necmettin Erbakan University, Konya, Turkey; kFaculty of Medicine, Yildirim Bayezid University, Ankara, Turkey; lFaculty of Medicine of Medicine, Gazi University, Ankara, Turkey; mDr Behçet Uz Children Hospital, Izmir, Turkey; nFaculty of Medicine, Pamukkale University, Denizli, Turkey; oFAVOR for Pediatric Endocrinology, Ankara, Turkey

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.

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