[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.

[Panhypopituitarism from pituitary metastases of breast cancer]. / Panipopituitarismo da metastasi ipofisarie di carcinoma mammario.

Metastases to the pituitary gland are uncommon causes of hypopituitarism, to be particularly considered in patients affected with disseminated cancers, arising in the breast or in the lung. Differential diagnosis could be correctly addressed by the concomitant presence of diabetes insipidus, due to the prominent involvement of the posterior lobe, and by some neuroradiological findings. We report the case of a 58-year-old woman, suffering from advanced breast cancer, who developed diabetes insipidus and anterior hypopituitarism. Magnetic resonance images showed diffuse encephalic metastatic lesions, with a thickened pituitary stalk, loss of high signal intensity of posterior lobe and a mildly enlarged and inhomogeneously enhanced adenohypophysis. Substitutive hormonal therapy was started, but the patient died five months later due to the progression of the neoplastic disease.

[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.

[An uncommon cause of gynecomastia: testicular Leydig cell tumor. Hormonal profile before and after orchiectomy]. / Una causa infrequente di ginecomastia: il leydigioma del testicolo. Profilo ormonale prima e dopo l'orchiectomia.

Leydig cell tumors (LTC) are uncommon neoplasms arising from gonadal stroma that account for 1-3% of all testicular tumors. We report a case of LCT in a 36 years old man who had been suffering from painful bilateral gynecomastia for one year. Endocrine function tests showed decreased gonadotropin concentrations, and reduction of testosterone/estradiol ratio. Ultrasonography revealed a 10-12 mm hypoechoic area in the right testis, not evident on physical examination. Right orchiectomy was performed and histological examination confirmed the supposed existence of a LCT. After surgery, the gynecomastia has completely disappeared and hormonal alterations returned to normal.

[Elevated concentration of serum carcinoembryonic antigen in hypothyroidism]. / Elevate concentrazioni sieriche di antigene carcinoembrionario in corso di ipotiroidismo.

In this case-report we describe two patients with hypothyroidism and increased carcinoembryonic antigen (CEA) serum concentration. The former patient was a woman affected by primary autoimmune hypothyroidism, the latter by secondary hypothyroidism in empty sella syndrome. In both of the patients we found no evidence of neoplastic disease and CEA serum concentrations reverted almost completely to the normal range values after the patients were given the hormonal replacement therapy with L-thyroxine. Although the association of hypothyroidism with elevated CEA serum concentrations has been already reported in the literature, hypothyroidism is usually disregarded when a physician is facing with a patient with increased CEA levels. On the contrary, our data suggest that hypothyroidism should be taken into account in the diagnostic work-up of these patients, such as smoking, cholestasis, impaired liver function, chronic inflammatory bronchial and bowel disease.

[Bulbar paralysis and flaccid tetraparesis in thyrotoxicosis]. / Paralisi della muscolatura bulbare associata a tetraparesi flaccida in corso di tireotossicosi.

We describe the case of an aged patient, presenting an acute onset of flaccid paralysis of the limbs and bulbar weakness, complicated by ab ingestis pneumonia. These neurological findings were the first signs of a thyrotoxic crisis and showed a progressive regression together with the healing of the hyperthyroidism obtained, within two months, utilizing thyroid inhibitors. At the onset, a marked hypokalaemia was present, making possible the hypothesis of a thyrotoxic periodic paralysis. The hypokalaemia was corrected after many infusions of KCl i.v., without obtaining significant modifications of the neurological picture. Taking into consideration the evolution and the results of the instrumental procedures (EMG, MRI) we believe this a rare case of thyrotoxic acute myopathy, with bulbar involvement, casually associated to hypokalaemia.