Publications by authors named "P Bregani"

Prader-Willi syndrome (PWS) is the most frequent cause of secondary obesity, characterized by neonatal hypotonia, dysmorphic facies, acromicria, hypogonadism, stunted growth, obesity, behavioural disturbances and cognitive impairment. Clinical diagnosis is confirmed by alteration of imprinted genes on the proximal long arm of chromosome 15 (15q11-13) for deletion, translocation, uniparental disomy for maternal chromosome 15 or imprinting center defect. Methylation test is the most reliable test for diagnosis.

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Four adolescent males were submitted to hormonal and psychological evaluation 3-8 years after bone marrow transplant. All presented testicular failure, two were submitted to orchiectomy. Androgen replacement therapy was begun at 13 yr 7 mo-17 yr.

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We describe a case of Munchausen's syndrome by proxy in a 12 years old child. The administration of glibenclamide by the mother led to severe hypoglycemias in the child, who underwent various instrumental researches and a subtotal pancreatectomy before the final diagnosis could be reached. The diagnosis also was possible with the substantial help of an accurate psychological survey.

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