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

Therapeutics and Clinical Risk Management
Simona BucerzanPaula Grigorescu-Sido

Abstract

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. 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. 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. 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 dia...Continue Reading

Citations

Dec 11, 2019·Cold Spring Harbor Perspectives in Biology·Shannon N Nees, Wendy K Chung
Sep 6, 2018·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Marcus A TukeAnna Murray
May 14, 2018·The Journal of Pediatrics·Gabrielle E ReimannLeora E Comis
May 24, 2019·European Journal of Obstetrics, Gynecology, and Reproductive Biology·Hélène AndreCélia Ravel

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Methods Mentioned

BETA
PCR
electrophoresis
hormone replacement therapy

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