[Di George syndrome: not always a pediatric diagnosis]. / Sindrome di Di George: una diagnosi non sempre pediatrica.

We describe a delayed diagnosis of Di George syndrome, in a 51 yr-old woman, with past medical history of epilepsy, mental retardation, chronic psychosis, nephrocalcinosis. She presented facial dysmorphism, multiple encephalic calcifications, hypocalcemia and lymphopenia. A microdeletion of 22q 11.2 was detected by fluorescence in situ hybridization (FISH), confirming the clinical suspicion .

[Hyperthyroidism and hypopituitarism: two incompatible diagnoses?] / Ipertiroidismo e ipopituitarismo: due diagnosi fra loro inconciliabili?

We report the case of a 67-year-old man, with a past medical history of radiotherapy for nasopharyngeal carcinoma, who presented with the classical features of a hyperthyroidism (H), due to Graves' disease, with a high TSH receptor antibodies (TRAb) titre. Thyrostatic therapy was started, with gradual improvement of the symptoms and of the thyroid function tests. Two years later, TRAb became negative and the therapy was stopped. In the following months a previously unknown anterior pituitary insufficiency became evident. Therapy with cortisone acetate, L-thyroxine and testosterone was started, resulting in prolonged normalization of the clinical picture. Six years later a short relapse of H was observed, simultaneously to a new increase of TRAb titre, requiring the transitory interruption of the L-thyroxine therapy. In a few months span H disappeared and central hypothyroidism manifested again, so that the patient is still taking replacement therapy. This case illustrates how H and hypopituitarism are not mutually exclusive diagnoses and how, even if rarely, central hypothyroidism and H could alternate in the clinical history of the same patient.

[Greater saphenous vein thrombosis and testosterone replacement therapy: an occasional association?] / Trombosi della grande safena e terapia sostitutiva con testosterone: un'associazione casuale?

We describe a case of greater saphenous vein thrombosis in a 50-year-old previously healthy man, occurred only 3 weeks after starting testosterone (T) replacement therapy (20 mg/day, gel) for hypergonadotropic hypogonadism. There were no clinical known risk factors for thrombosis. Laboratory assessment of thrombophilia, performed later, revealed only methylenetetrahydrofolate reductase (MTHFR) A1298C polymorphism. On the basis of other recently reported cases, we suppose a relationship between androgenic therapy and venous thrombosis. We suggest the same caution before starting T replacement therapy in male as in female administration of estrogens.