Berardo di Natale

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Two 46,XX sibs, one of female, one of male gender, and both with ambiguous external genitalia and ovotestis, were H-Y positive. The mother was H-Y negative. It is assumed that the underlying mutation was transmitted by the father, resulting in an autosomal dominant mode of inheritance. The common origin and the nature of the mutation leading to XX sex(More)
To search for the presence of morphostructural abnormalities of the hypothalamus-pituitary region in growth hormone deficient (GHD) children magnetic resonance imaging (MRI) was performed in 30 GHD patients (age 10.09±3.5 years) and in 15 healthy agematched controls. MRI demonstrated a significantly small sella and pituitary volume compared to controls and(More)
To search for the presence of morphostructural abnormalities of the hypothalamus - pituitary region in GHD children MRI was performed in 28 IGHD pts (21M, 7F, age 10.1±3.4, range 4.2-18) and in 15 healthy age matched controls (10M, 5F, age 8.3±2.9, range 4 to 12.4). Isolated GHD had been demonstrated in 19/28 pts, multiple pituitary hormones deficiency(More)
A 10-year-old boy, in a precomatose state, was admitted to our Endocrine Unit for diabetic keatoacidosis. It took unusually long to reequilibrate the acidosis despite a bicarbonate drip. On the 4th day the patient suddenly complained of an acute abdominal pain associated with macrohematuria and oliguria; ankle edema was evident. No radio-opaque image was(More)
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