[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.

[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 .

[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.

[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.

Intestinal calcium absorption is associated with bone mass in stone-forming women with idiopathic hypercalciuria.

BACKGROUND: Patients with idiopathic hypercalciuria are predisposed to osteoporosis despite their high enteral calcium absorption. Conversely, low calcium absorption has been reported in patients with osteoporosis. Because bone loss occurs earlier in women, this work explores the relationship between bone mineral density (BMD) and calcium absorption in premenopausal and postmenopausal hypercalciuric stone-forming women. METHODS: BMD and intestinal calcium absorption were compared in 64 hypercalciuric and 42 normocalciuric calcium stone-forming women. Calcium absorption was assessed by using strontium as a surrogate marker for calcium. Strontium was administered to patients as an oral load, then measured in blood to calculate absorption after 60 minutes. Femoral and lumbar-spine BMD were measured by dual-energy x-ray absorptiometry. RESULTS: Strontium absorption was significantly increased in hypercalciuric stone formers, whereas BMD z score was decreased in hypercalciuric patients at the lumbar spine, but not the femur. The increase in strontium absorption was detected in both postmenopausal (n = 29) and premenopausal (n = 35) hypercalciuric patients. The decrease in lumbar-spine BMD was confirmed in postmenopausal, but not premenopausal, hypercalciuric patients. Strontium absorption was greater in hypercalciuric patients with a lumbar-spine BMD z score of -2 or less (n = 10) than in those with a score greater than -2 (n = 54). Multiple stepwise regression showed that lumbar-spine BMD was related negatively to intestinal strontium absorption and age in hypercalciuric patients. CONCLUSION: Results of the strontium absorption test suggest that the increase in calcium absorption is associated with a decrease in lumbar-spine BMD in hypercalciuric stone-forming women. Hypercalciuric stone-forming women with high calcium intestinal absorption denote a group of patients predisposed to loss of bone mass.