Clinical and genetic characteristics in a group of 45 patients with Turner syndrome (monocentric study)
Simona Bucerzan,1 Diana Miclea,1,2 Radu Popp,2 Camelia Alkhzouz,1 Cecilia Lazea,1 Ioan Victor Pop,2 Paula Grigorescu-Sido1 1Emergency Hospital for Children, “Iuliu Hatieganu” University of Medicine and Pharmacy, Cluj-Napoca, Romania; 2Department of Molecular Sciences, &ldquo...
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| Format: | Article |
| Language: | English |
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Dove Medical Press
2017-05-01
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| Series: | Therapeutics and Clinical Risk Management |
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| Online Access: | https://www.dovepress.com/clinical-and-genetic-characteristics-in-a-group-of-45-patients-with-tu-peer-reviewed-article-TCRM |
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| author | Bucerzan S Miclea D Popp R Alkhzouz C Lazea C Pop IV Grigorescu-Sido P |
| author_facet | Bucerzan S Miclea D Popp R Alkhzouz C Lazea C Pop IV Grigorescu-Sido P |
| author_sort | Bucerzan S |
| collection | DOAJ |
| description | Simona Bucerzan,1 Diana Miclea,1,2 Radu Popp,2 Camelia Alkhzouz,1 Cecilia Lazea,1 Ioan Victor Pop,2 Paula Grigorescu-Sido1 1Emergency Hospital for Children, “Iuliu Hatieganu” University of Medicine and Pharmacy, Cluj-Napoca, Romania; 2Department of Molecular Sciences, “Iuliu Hatieganu” University of Medicine and Pharmacy, Cluj-Napoca, Romania Introduction: Recent years have seen a shift in perspective on Turner syndrome, as it is no longer considered a significant disability due to therapeutic advances. The delay of diagnosis and the underdiagnosis are common in Turner syndrome, especially because of the great phenotypic variability and lack of firm diagnostic criteria.Aim: Our first aim was to assess the clinical and the cytogenetic characteristics and growth rate in growth hormone (GH)-treated patients as compared to those with spontaneous growth. The second aim was to analyze the Y chromosomal sequences.Materials and methods: We analyzed 45 patients diagnosed with Turner syndrome in Genetic Pathology Centre of Cluj Emergency Children’s Hospital. We carried out a study of the clinical features, the correlations between the karyotype and the phenotype, and we also made a research of Y chromosome sequences.Results: The average age at diagnosis was 8.9±5.4 years. A significant association was observed between the number of external phenotypical abnormalities and internal malformations (r=0.45), particularly the cardiovascular ones (r=0.44). Patients treated with GH showed improvement in growth rate, with final stature significantly better than in untreated patients; benefits following treatment were greater if diagnosis was made before the age of 5 years. Thirteen percent of patients experienced spontaneous and complete puberty, whereas 30% experienced incomplete puberty. Patients with the 45,X genotype had a greater stature deficit and a higher incidence of cardiac malformations, compared with patients with 45,X/46,XX mosaic karyotype. Y chromosome sequences were found in only one patient, who subsequently underwent gonadectomy.Conclusion: The importance of this study resides, to the best of our knowledge, in the fact that the largest group of patients in Romania was analyzed and assessed. To draw firm conclusions on the most valuable clinical indicators for Turner syndrome diagnosis in clinical practice, studies on large groups of patients should be conducted. Keywords: Turner syndrome, diagnosis, phenotype, karyotype, GH treatment, Y chromosome sequences |
| first_indexed | 2024-12-20T02:34:54Z |
| format | Article |
| id | doaj.art-3636489c449f4d939818c272ce55eb93 |
| institution | Directory Open Access Journal |
| issn | 1178-203X |
| language | English |
| last_indexed | 2024-12-20T02:34:54Z |
| publishDate | 2017-05-01 |
| publisher | Dove Medical Press |
| record_format | Article |
| series | Therapeutics and Clinical Risk Management |
| spelling | doaj.art-3636489c449f4d939818c272ce55eb932022-12-21T19:56:28ZengDove Medical PressTherapeutics and Clinical Risk Management1178-203X2017-05-01Volume 1361362232690Clinical and genetic characteristics in a group of 45 patients with Turner syndrome (monocentric study)Bucerzan SMiclea DPopp RAlkhzouz CLazea CPop IVGrigorescu-Sido PSimona Bucerzan,1 Diana Miclea,1,2 Radu Popp,2 Camelia Alkhzouz,1 Cecilia Lazea,1 Ioan Victor Pop,2 Paula Grigorescu-Sido1 1Emergency Hospital for Children, “Iuliu Hatieganu” University of Medicine and Pharmacy, Cluj-Napoca, Romania; 2Department of Molecular Sciences, “Iuliu Hatieganu” University of Medicine and Pharmacy, Cluj-Napoca, Romania Introduction: Recent years have seen a shift in perspective on Turner syndrome, as it is no longer considered a significant disability due to therapeutic advances. The delay of diagnosis and the underdiagnosis are common in Turner syndrome, especially because of the great phenotypic variability and lack of firm diagnostic criteria.Aim: Our first aim was to assess the clinical and the cytogenetic characteristics and growth rate in growth hormone (GH)-treated patients as compared to those with spontaneous growth. The second aim was to analyze the Y chromosomal sequences.Materials and methods: We analyzed 45 patients diagnosed with Turner syndrome in Genetic Pathology Centre of Cluj Emergency Children’s Hospital. We carried out a study of the clinical features, the correlations between the karyotype and the phenotype, and we also made a research of Y chromosome sequences.Results: The average age at diagnosis was 8.9±5.4 years. A significant association was observed between the number of external phenotypical abnormalities and internal malformations (r=0.45), particularly the cardiovascular ones (r=0.44). Patients treated with GH showed improvement in growth rate, with final stature significantly better than in untreated patients; benefits following treatment were greater if diagnosis was made before the age of 5 years. Thirteen percent of patients experienced spontaneous and complete puberty, whereas 30% experienced incomplete puberty. Patients with the 45,X genotype had a greater stature deficit and a higher incidence of cardiac malformations, compared with patients with 45,X/46,XX mosaic karyotype. Y chromosome sequences were found in only one patient, who subsequently underwent gonadectomy.Conclusion: The importance of this study resides, to the best of our knowledge, in the fact that the largest group of patients in Romania was analyzed and assessed. To draw firm conclusions on the most valuable clinical indicators for Turner syndrome diagnosis in clinical practice, studies on large groups of patients should be conducted. Keywords: Turner syndrome, diagnosis, phenotype, karyotype, GH treatment, Y chromosome sequenceshttps://www.dovepress.com/clinical-and-genetic-characteristics-in-a-group-of-45-patients-with-tu-peer-reviewed-article-TCRMTurner syndromediagnosisphenotypekaryotypeGH treatmentY chromosome sequences |
| spellingShingle | Bucerzan S Miclea D Popp R Alkhzouz C Lazea C Pop IV Grigorescu-Sido P Clinical and genetic characteristics in a group of 45 patients with Turner syndrome (monocentric study) Therapeutics and Clinical Risk Management Turner syndrome diagnosis phenotype karyotype GH treatment Y chromosome sequences |
| title | Clinical and genetic characteristics in a group of 45 patients with Turner syndrome (monocentric study) |
| title_full | Clinical and genetic characteristics in a group of 45 patients with Turner syndrome (monocentric study) |
| title_fullStr | Clinical and genetic characteristics in a group of 45 patients with Turner syndrome (monocentric study) |
| title_full_unstemmed | Clinical and genetic characteristics in a group of 45 patients with Turner syndrome (monocentric study) |
| title_short | Clinical and genetic characteristics in a group of 45 patients with Turner syndrome (monocentric study) |
| title_sort | clinical and genetic characteristics in a group of 45 patients with turner syndrome monocentric study |
| topic | Turner syndrome diagnosis phenotype karyotype GH treatment Y chromosome sequences |
| url | https://www.dovepress.com/clinical-and-genetic-characteristics-in-a-group-of-45-patients-with-tu-peer-reviewed-article-TCRM |
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