New insights into the comorbid conditions of Turner syndrome: results from a long-term monocentric cohort study.

PURPOSE: Many questions concerning Turner syndrome (TS) remain unresolved, such as the long-term complications and, therefore, the optimal care setting for adults. The primary aim of this long-term cohort study was to estimate the incidence of comorbid conditions along the life course. METHODS: A total of 160 Italian patients with TS diagnosed from 1967 to 2010 were regularly and structurally monitored from the diagnosis to December 2019 at the University Hospital of Bologna using a structured multidisciplinary monitoring protocol. RESULTS: The study cohort was followed up for a median of 27 years (IQR 12-42). Autoimmune diseases were the comorbid condition with the highest incidence (61.2%), followed by osteoporosis and hypertension (23.8%), type 2 diabetes (16.2%) and tumours (15.1%). Median age of onset ranged from 22 years for autoimmune diseases to 39 years for type 2 diabetes. Malignant tumours were the most prominent type of neoplasm, with a cumulative incidence of 11.9%. Papillary thyroid carcinoma was the most common form of cancer, followed by skin cancer and cancer of the central nervous system. Only one major cardiovascular event (acute aortic dissection) was observed during follow-up. No cases of ischaemic heart disease, heart failure, stroke or death were recorded. CONCLUSIONS: This cohort study confirms the need for continuous, structured and multidisciplinary lifelong monitoring of TS, thus ensuring the early diagnosis of important comorbid conditions, including cancer, and their appropriate and timely treatment. In addition, these data highlight the need for the increased surveillance of specific types of cancer in TS, including thyroid carcinoma.

Evaluation of function and structure of arterial wall in girls and young women with Turner syndrome.

PURPOSE: Patients with Turner syndrome (TS) are frequently affected by congenital as well as acquired cardiovascular diseases. The aim of the study was to evaluate the blood pressure, the endothelial function (FMD) and the intima media thickness (IMT) at the level of the common carotid arteries in a group of girls and young women with TS in comparison to healthy controls. METHODS: We evaluated 40 unselected TS patients, with a mean age of 18.6 ± 0.9 years and 103 age matched healthy subjects. MAIN OUTCOME MEASURES: blood pressure, FMD and IMT. RESULTS: No differences were found in systolic and diastolic blood pressure between TS patients and controls. FMD was higher in TS than in controls (14.2 ± 1.4 vs 11.4 ± 0.3%, p = 0.005) whereas IMT was not statistically different in the two study groups (0.54 ± 0.04 vs 0.57 ± 0.01 mm). However, in TS patients an inverse correlation was found between FMD and both age (-0.03 ± 0.01, p = 0.003) and years of estrogen therapy (-0.72 ± 0.31, p < 0.03), whereas a positive correlation was found between IMT and age (R 2 = 0.35, p < 0.0001) and estrogen therapy duration (R 2 = 0.65, p < 0.0001), suggesting a clear tendency toward a premature decrease in FMD and premature increase in IMT compared to controls. CONCLUSIONS: Young TS patients show an arterial wall which is functionally and structurally comparable or better than controls. They show, however, a premature derangement of the arterial function and structure, which seems to be partly influenced by age and duration of oestrogen treatment.

Auxological and anthropometric evaluation in skeletal dysplasias.

Anthropometry is the technique of expressing body shape in quantitative terms. The measurements are compared with the standard growth curves for the general population and expressed as a SD score or percentiles. The comparison of the different parameters with normal standards requires: standardized landmarks on the body, standardized methods of taking measurements, and standard equipment. Skeletal dysplasias generally present with disproportionate short stature, that may be caused primarily by a short trunk or short limbs. If short limbs are observed, the reduction may affect the proximal (rhizomelic), the middle (mesomelic) or distal (acromelic) segments. Anthropometric measurements should include all the segments of the arms and the legs with a comparison with the normal standards for height age. Short stature homeobox- containing (SHOX) gene defects determine a highly variable phenotype, that includes an osteochondrodysplasia with mesomelic short stature and Madelung deformity, but also presentations without evident malformations. Anthropometric indicators of SHOX deficiency are: disproportionate short stature, reduction of lower limb, reduction of the ratio between arm span and forearm length with respect to height, increase in the sitting/ height stature ratio, increase in limb circumference (arm, forearm, thigh, and leg) with respect to height and increased body mass index. In some forms of skeletal dysplasias and in particular in SHOX gene anomalies that have many characteristics superimposable to idiopathic short stature, only an accurate auxo-anthropometric and dysmorphologic evaluation enable us to propose, fairly accurately, the subjects for the gene study.

[Vesico-urethral traumatic lesions caused by labor]. / Lesioni traumatiche vescico-uretrali da parto.

The technique used for immediate repair of a delivery-induced vesico-urethral lesion is described.