Endocrine Abstracts

Turner syndrome (TS), one of the most frequent chromosomal aberrations in females, is characterized not only by structural abnormalities (somatic and congenital) but also by acquired comorbidities, such as metabolic disorders, cardiovascular alterations, autoimmune diseases, osteoporosis, and malignancies. The prevalence of structural abnormalities that usually complicate TS at diagnosis is well known. However, the prevalence of acquired complications, that may appear at any age during follow-up, is less known, for the scarcity of data available in literature in TS during adulthood. This limit does not allow to establish an exact flow-chart on how to monitor acquired pathologies in TS. This long-term prospective observational study has been performed in a population of 139 TS diagnosed and then followed at S. Orsola-Malpighi hospital of Bologna, firstly by pediatricians and secondly by endocrinologists, using the same structured protocol of follow-up. The mean age of diagnosis of TS was 9.52 ± 8.09 years. The average duration of follow-up was 28.4 ± 9.7 years. Therefore, the age at the end of follow up was 38.4 ± 8.3 years. Diabetes was diagnosed by oral glucose tolerance test in 21 patients (15.1%) with a mean age at diagnosis of 39.0 ± 10.9 years. Hypertension was discovered in 35 patients (25.2%) with a mean age at diagnosis of 31.1 ± 10.0 years, one of these patients complicated with aortic dissection at age 45. During follow-up we diagnosed 104 autoimmune disorders with a mean age at diagnosis of 23.8 ± 10.5 years; in particular, we found 81 cases of thyroiditis with or without hypothyroidism, 10 cases of coeliac disease, 3 cases of Basedow-Graves disease, 3 cases of alopecia areata, 2 cases of vitiligo, 2 cases of Sjogren syndrome, 1 case of psoriasis, 1 case of chronic atrophic gastritis and 1 case of Crohn’s disease. Osteoporosis was detected in 28 patients (20.1%). Finally, we found 21 cases of malignancies with a mean age at diagnosis of 31.5 ± 13.8 years; in particular, we found 7 cases of papillary thyroid carcinoma, 5 cases of nervous system tumors, 3 cases of skin tumors, 2 cases of gonadal tumors, 1 case of kidney cancer, 1 case of breast cancer, 1 case ofacute lymphoblastic leukemia, and 1 case of aggressive hemangioma. These data reinforce the need to monitor patients with TS lifelong, focusing on endocrine, metabolic, cardiovascular and oncological complications. A specific structured protocol is useful for early detection of such important complications.