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

Abstract

IntroductionRecent 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.AimOur 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 methodsWe 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.ResultsThe 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.ConclusionThe 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.

Mosaic Turner syndrome shows reduced penetrance in an adult population study

“…6 In contrast, women with a 45,X chromosome complement or Turner syndrome are generally short (20 cm below population mean), may have physical features such as a webbed neck, and about 80% have primary amenorrhea. 7 Women with Turner syndrome are at an increased risk of hearing difficulties and cardiac disorders, particularly dissection of the aorta. 8–11 Hypergonadotrophic hypogonadism in Turner syndrome means that pregnancy is often difficult to achieve spontaneously, but if achieved, pregnancies are considered high risk, predominantly due to an increased risk of cardiac complications.…”

Pregnancies and obstetrical prognosis after oocyte donation in Turner Syndrome: A multicentric study

“…It is due to the absence or structural abnormality of one of the X chromosome, with various degrees of mosaicism. Mosaicism attenuates the phenotype of Turner syndrome, especially the anthropometric data and the cardio-vascular morbidities [5,6]. Diagnosis of mosaic forms is established 8 years after the monosomic ones [7].…”

Mosaic Turner syndrome shows reduced phenotypic penetrance in an adult population study compared to clinically ascertained cases

“…Girls with trisomy X are also at increased risk of developmental delay, particularly problems with speech and language 6 . In contrast women with a 45,X chromosome complement or Turner syndrome are generally short (20cm below population mean), may have physical features such as a webbed neck and about 80% have primary amenorrhea 7 . Women with Turner syndrome are at increased risk of hearing difficulties and cardiac disorders, particularly dissection of the aorta 8,9 10,11 .…”