A retrospective study was held on data of 60 patients with Turner's Syndrome (TS), aiming to report the most prevalent diseases in this syndrome. Diagnosis was confirmed by kariotype from the prenatal period to the age of 49 years. At the time of the study the age of the patients ranged from 1 to 50 years, and they were observed during 4 months to 29 years. Thirty-one patients presented 45XO kariotype, 24 were mosaic and 5 were 46Xi, (i,Xq). All presented with low stature and some stigmas. Five (8.3%) did not present other diseases and are currently healthy. In 55 (91.6%) the following associate diseases were observed: 23 (38.3%) had endocrine, 16 (26.6%) ear, throat and nose, 15 (25%) cardiologic, 14 (23.3%) renal and 6 (10%) gastrointestinal diseases. The most common endocrine diseases were hypothyroidism (36.6%), osteoporosis (18.3%) and hyperlipidemia (11.6%). The most frequent ear, nose and throat diseases were infections (media otitis and tonsillitis). Congenital diseases of the aorta valve (bicuspid aorta valve) and double collecting systems with renal rotation were the most prevalent cardiac and renal diseases, respectively. Two patients had a diagnosis of Meckel's diverticulum. Although congenital diseases were more common in 45XO patients, no statistical significant difference was found concerning the prevalence of the diseases on other karyotypes. We conclude that special support must be given to patients with TS, with periodical assistance by multiple specialists.
Turner' syndrome; Congenital abnormalities; Morbidity; Associate diseases
