Adulthood with Turner Syndrome: Quality of life, psychosocial adjustment and clinical management in 70 Italian women

Abstract Background: Turner syndrome (TS) is a chromosomal abnormality (total or partial absence of one of the sexual chromosomes in some or all cells of the body), which affects approximately 1:2000 female. Principal characteristics are short stature and gonadal disgenesis. Clinical management consist of Growth Hormone (GH) treatment and oestrogen replacement therapy (HRT), to induce development of secondary characteristics and to avoid the sequelae of oestrogen deficiency. Aim of the study: To assess clinical management, quality of life (QoL) and general psychosocial adjustment of women with TS. Population: 70 adult Caucasian females with TS (mean age: 27.8, ± 7.6; range 18-48 y.). Setting: Specialist service for Rare Disease care, University Hospital. Methods: Subjects were required to fill in questionnaires collecting ASR, WHOQOL, and 8 open questions. Data were compared with those of the Italian population or to those collected in a comparison group (70 healthy females, mean age: 27.9, ±7.3, range 21-48 y.). Results: Women with TS are educated as well as the Italian Population, but they have a less successful professional life. They show good QoL in general, but they appeared less satisfied in social area. They had statistically higher scores than the comparison group for depression, anxiety and withdrawal. Are less involved in a love relationship. Diagnosis communication was mostly performed by doctors or parents, satisfaction was higher when information was given by parents. Main preoccupation about TS are infertility, feeling of being different and future health problem. Conclusions: Italian people with TS were generally well adapted and have a good QoL, but lived more often with parents and show impaired sentimental and sexual life. They have higher degree of psychological distress compared to a comparison group. Psychological intervention should firstly address parents in order to encourage an open communication on diagnosis issues and on sexual education.

Studio della funzionalità respiratoria in soggetti con sindrome di Turner

The aim of this study is to evaluate the pulmonary function in subjects with diagnosis of Turner Syndrome, in charge at the Syndromology Ward of the Paediatric Clinic of S.Orsola-Malpighi hospital. There are very few datas about lung function in patients with Turner syndrome’s genotype and phenotype in medical literature. Since the thorax of these subjects have peculiar anatomic shape (as “shield” or “overturned triangle”), we presupposed that these subjects could have also a peculiar respiratory function. Moreover we look for the possibility of correlation between pulmonary function and estroprogestinic replacement therapy and/or growth hormone (GH) replacement therapy. Material and methods: we studied 48 patients, with diagnosis of Turner Syndrome; they all made spirometry voluntarily and, when capable, also plethismografy. Results: - the parametres of pulmonary function are a little higher of the predicted values for age and sex but they are a little lower if they're corrected for each patient’s ideal high and weight: so we can conclude that in Turner Syndrme subjects pulmonary function is normal; -there’s not a statistically significant correlation between pulmonary function and GH therapy; -there’s not a statistically significant correlation between GH therapy’s length and pulmonary function except for Total Lung Capacity which increases with the number of years of GH therapy; - there’s not a statistically significant correlation between pulmonary function and estroprogestinic replacement herapy.

Guidelines of Special Care Dentistry in Patients with Chromosomal and Genetic syndromes

Chromosomal and genetic syndromes are frequently associated with dental and cranio-facial alterations. The aim of our study is to identify and describe the dental and craniofacial alterations typical of six genetic and chromosomal syndromes examined. Materials and Methods- A dental visit was performed to 195 patients referred from Sant’Orsola Hospital of Bologna, University of Bologna, to Service of Special Need Dentistry, Dental Clinic, Department of Biomedical and Neuromotor Science, University of Bologna. The patients recruited were 137 females and 58 males, in an age range of 3-49 years (mean age of 13.8±7.4). The total sample consisted of subjects affected with Down Syndrome (n=133), Familiar Hypophosphatemic Ricket (n=10), Muscular Dystrophies (n=12), Noonan Syndrome (n=13), Turner Syndrome (n=17), Williams Syndrome(n=10). A questionnaire regarding detailed medical and dental history, oral health and dietary habits, was filled by parents/caregivers, or patients themselves when possible. The intra-oral and extra-oral examination valued the presence of facial asymmetries, oral habits, dental and skeletal malocclusions, dental formula, dental anomalies, Plaque Index (Silness&LÖe Index), caries prevalence (dmft/DMFT index), gingivitis and periodontal disease, and mucosal lesions. Radiographic examinations (Intraoral radiographies, Orthopanoramic, Skull teleradiography) were executed according to patient’s age and treatment planning. A review of literature about each syndrome and its dental and cranio-facial characteristics and about caries, hygiene status and malocclusion prevalence on syndromic and non-syndromic population was performed. Results - The data of all the patients were collected in the “Data Collection Tables” created for each syndrome. General anamnesis information, oral hygiene habits and dmft/DMFT, PI, malocclusion prevalence were calculated and compared to syndromic and non-syndromic population results found in literature. Discussions and conclusions - Guidelines of Special Care dentistry were indicated for each syndrome, in relation to each syndrome features and individual patient characteristics.