Clinical and genetic characteristics in a group of 45 patients with Turner syndrome (monocentric study)

• DOI: 10.2147/tcrm.s126301
• Publication Date: 2017-05-04T19:54:30Z
• Authors: Simona Bucerzan; Diana Miclea; Radu Popp; Camelia AlKhzouz; Cecilia Lazea; Victor Ioan Pop; Paula Grigorescu-...
• Keywords: Y chromosome sequences; Therapeutics and Clinical Risk Management; diagnosis; phenotype; Turner syndrome; RM1-950; 3. Good health; karyotype; 03 medical and health sciences; 0302 clinical medicine; GH treatment; Therapeutics. Pharmacology; Original Research

Introduction: Recent years have seen a shift in perspective on Turner syndrome, as it is no longer considered significant disability due to therapeutic advances. The delay of diagnosis and the underdiagnosis are common especially because great phenotypic variability lack firm diagnostic criteria. Aim: Our first aim was assess clinical cytogenetic characteristics growth rate hormone (GH)-treated patients compared those with spontaneous growth. second analyze Y chromosomal sequences. Materials methods: We analyzed 45 diagnosed syndrome Genetic Pathology Centre Cluj Emergency Children's Hospital. carried out study features, correlations between karyotype phenotype, we also made research chromosome Results: average age at 8.9±5.4 years. A association observed number external phenotypical abnormalities internal malformations ( r =0.45), particularly cardiovascular ones =0.44). Patients treated GH showed improvement rate, final stature significantly better than untreated patients; benefits following treatment were greater if before 5 Thirteen percent experienced complete puberty, whereas 30% incomplete puberty. 45,X genotype had deficit higher incidence cardiac malformations, 45,X/46,XX mosaic karyotype. sequences found only one patient, who subsequently underwent gonadectomy. Conclusion: importance this resides, best our knowledge, fact that largest group Romania assessed. To draw conclusions most valuable indicators for practice, studies large groups should be conducted. Keywords: diagnosis, karyotype, treatment,