A boy referred at the age of 4 years because of obesity and under observation for 16 years, was found to be suffering from a hypothalamic syndrome of unknown origin characterized by progressive… (More)
Pancytopenia is a rare complication of the thionamide therapy reported secondary to aplastic anemia, the bone marrow being invariably hypocellular. We present a case of a 16-year-old female with… (More)
A study of two siblings with a severe infantile form of familial idiopathic hyperphosphatasia is reported. A girl aged one year was followed for two years while receiving intermittent treatment with… (More)
AIM
Pregnancy and delivery are affected by and - in turn - impact signs and symptoms of Gaucher disease (GD). Prior to enzyme replacement therapy (ERT), the reported missed abortions rate was 25%,… (More)
Testicular function was evaluated in forty-one prepubertal patients with male pseudohermaphroditism by determining serum concentrations of progesterone, 17-hydroxyprogesterone,… (More)
It was recently proposed that congenital and late-onset 21-hydroxylase deficiency are caused by two distinct recessive allelic genes. Although both genes are associated with the HLA system, only the… (More)
Testicular endocrine function was studied in twelve post pubertal patients with male pseudohermaphroditism and 46 XY chromosomal constitution. Patients were divided into three groups, four subjects… (More)