Turner's syndrome with coeliac disease, thin bones and abnormal liver function tests.
نویسندگان
چکیده
A patient is described with 45 XO Turner's syndrome and thin bones. It transpired that the patient had osteomalacia due to gluten sensitive enteropathy rather than the osteroporosis usually expected with Turner's syndrome. In addition, she had unexplained liver dysfunction. Causes for thin bones other than the osteoporosis associated with ovarian agenesis should be considered in patients with Turner's syndrome.
منابع مشابه
A young girl with H syndrome and coeliac disease
H syndrome is an autosomal recessive genodermatosis with reports dating back to the last decade. This syndrome is caused by mutations in the SCL29A3 gene. The clinical characteristics of this syndrome consist of dermatological manifestations, including hyperpigmented, hypertrichotic, and indurated patches and plaques. It affects various systems by causing heart anomalies, hepatosplenomegaly, hy...
متن کاملAn Unusual Occurrence of Hepatic Granulomas and Secondary Sitosterolemia in Turner Syndrome
Although abnormal liver function tests occur in 50-80% of cases with Turner syndrome, there are no previous reports of overt hepatic disease or hepatic granulomas associated with Turner's syndrome. We report three cases of Turner syndrome associated with hepatic granulomas with a wide range of liver dysfunction. Of the three patients, first patient underwent liver transplantation; second patien...
متن کاملسندرم نونان (گزارش یک مورد)
Noonan syndrome is a genetic condition inherited by an autosomally dominant manner, characterised by congenital heart disease, short stature, abnormal facies and the somatic feature of Turner's syndrome, but a normal karyotype. Noonan syndrome affects approximately 1 in 1500 live births. Congenital heart disease occurs in 35-50% of patients diagnosed with noonan syndrome. The most common cardia...
متن کاملBone maturation in girls with Turner's syndrome.
The mechanism of growth retardation in Turner's syndrome has not been resolved. It is often referred to as a bone dysplasia, although endocrine derangement has not been ruled out. The present study was undertaken to evaluate the maturation of individual bones of the hand and wrist in girls with Turner's syndrome and thereby obtain information which may aid in elaborating the possible mechanism ...
متن کاملThe association between primary biliary cirrhosis and coeliac disease: a study of relative prevalences.
BACKGROUND Coexistent primary biliary cirrhosis (PBC) and coeliac disease has been recorded but the association has not been systematically studied. AIMS To determine relative prevalences of PBC and coeliac disease in a defined population over a 12 year period. PATIENTS AND METHODS All patients with PBC or coeliac disease in a stable population of 250,000 in South Wales were identified from...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Postgraduate medical journal
دوره 49 576 شماره
صفحات -
تاریخ انتشار 1973