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S Cannavò

Publications and source records attributed to S Cannavò.

32 records · Page 2Linked to original sources
PubMed2000

"Sporadic" dystrophic epidermolysis bullosa: a new dominant or mitis recessive mutation?

We describe a case of dystrophic epidermolysis bullosa which occurred in a young boy who presented thickened and dystrophic nails both in hands and feet, atrophic scars on the elbows and knees, some large bullae and milia on the hands and ankles. The parents were clinically unaffected and the family medical history was negative for blistering disease. The immunofluorescence for type VII collagen was positive, yet low in intensity and the number of anchoring fibrils was reduced, as revealed by transmission electron microscopy. The diagnosis of a "sporadic" case of dominant dystrophic epidermolysis bullosa was suggested, although a mitis case of recessive dystrophic epidermolysis bullosa cannot be excluded on the basis of clinical, immunofluorescent and ultrastructural examination. However recent studies, carried out in a series of seemingly sporadic cases, have pointed out the possibility of inheritance of two mutant alleles from unaffected parents. This implies that 'mild' recessive dystrophic epidermolysis bullosa is commoner than once thought. This information is important for genetic counselling and determination of recurrence risk in the present and future generations.

Adolescent↗
PubMed1999

Shrinkage of a PRL-secreting pituitary macroadenoma resistant to cabergoline.

Cabergoline decreases both serum PRL levels and size of prolactinomas, including some tumors resistant to other dopamine-agonists. It is common observation that the shrinkage of the adenoma is preceded by suppression of PRL levels. A minority of patients, who do not show a significant decrease of PRL after a short trial with dopamine-agonists, undergoes neurosurgery or radiotherapy. We report on the case of a 14-year-old girl with a huge prolactinoma who showed, during cabergoline treatment (0.5 mg twice a week), a significant shrinkage of the pituitary mass but no decrease of the very high PRL values. She was referred to us after partial removal of the suprasellar extension of the pituitary tumor. The post-surgical evaluation showed very high PRL levels (9352 microg/l; 20941 microg/l before surgery), which did not decrease during the 2-year treatment with cabergoline (nadir value: 8735 microg/l). However, one month after the beginning of therapy, MRI showed a significant shrinkage of the tumor (tumor volume 5.7 ml, compared with 45.1 ml prior to surgery and 24.4 ml after surgery). Subsequently MRIs demonstrated a progressive reduction of the size with a complete disappearance of the suprasellar and parasellar tissue (tumor volume 1.8, 0.9 and 0.2 ml, at 3, 6 and 12 months, respectively). The MRI performed at the 24th month showed a secondary empty sella, with residual tumor tissue in the right sphenoidal sinus. Increasing cabergoline, up to 3 mg a week, failed to induce any decrease of PRL levels. In conclusion, in such macroprolactinomas the shrinkage of tumor is not strictly correlated with (or it is partially dissociated from) the inhibition of PRL hypersecretion. The choice of other therapeutic options in cabergoline-resistant macroprolactinomas needs careful neuroradiological evaluation after a short trial of pharmacological treatment.

Adenoma↗
PubMed1999

Cabergoline: a first-choice treatment in patients with previously untreated prolactin-secreting pituitary adenoma.

Cabergoline (CAB) treatment is an effective, safe and well tolerated approach for hyperprolactinemia. We investigated the efficacy of 24-month treatment with CAB in 37 patients with previously untreated PRL-secreting pituitary adenoma and evaluated the hormonal and neuroradiological changes after the discontinuation of long-term therapy. Eleven patients with macroprolactinoma (1M/10F) and 26 with microprolactinoma (4M/22F) started treatment taking 0.25 mg CAB twice a week for 4 weeks. The dose was increased stepwise in 0.5 mg increments until reaching lowest maximally effective and tolerated dose. CAB was withdrawn before the end of the study in 6 women who became pregnant and in one patient who showed a slight increase of the macroadenoma at MRI. During treatment, PRL levels decreased significantly in macro (11.1+/-1.1 vs 407.8+/-98.3 microg/l, p<0.001) and microprolactinomas (11.1+/-1.6 vs 193.8+/-23.4 microg/l, p<0.05) and normalized in all macro and in 23/26 microprolactinomas. In 3 cases PRL levels decreased but did not normalize because the appearance of side effects, such as nausea or hypotension, prevented the increase of the dose of CAB. The effective dose of drug correlated significantly with basal serum PRL levels (p<0.05) and with the pituitary tumor size (p<0.05). A significant decrease of the mean adenoma size was evident for macro (6.9+/-1.8 vs 16.0+/-1.8 mm, p<0.001) and microprolactinomas (3.0+/-0.5 vs 6.5+/-0.4 mm, p<0.001) at MRI. The tumor disappeared in 4 macroadenomas and in 11 microadenomas after 12 months of treatment. CAB withdrawal was followed by serum PRL increase in 13 cases after 3 months, in 6 after 6 months, in 2 after 9 months, and in one patient at the 12th month. Five patients showed normoprolactinemia with negative MRI after one year. Regular menses were restored in 7/10 macroprolactinomas and in all oligo-amenorrhoic patients with microadenoma; serum testosterone levels normalized in 2/3 hypogonadic men. Five out of 6 women become pregnant and had uneventful pregnancies which resulted in deliveries of normal babies. In conclusion, this study confirms the effectiveness and safety of CAB for patients with PRL-secreting pituitary adenoma and suggests that it can be considered a first choice treatment.

Adolescent↗
PubMed1999

Unusual MRI finding of multiple adenomas in the pituitary gland: a case report and review of the literature.

The simultaneous occurrence of multiple adenomas in the pituitary gland is a rare event. We report the coexistence of three non functioning pituitary microadenomas in a 37-year-old woman, referred to us for oligomenorrhea and headache. Biochemical evaluation revealed prolactin (131 U/liters), follicle-stimulating hormone (4.1 U/liters), luteinizing hormone (3.9 U/liters), 17beta-estradiol (74 pg/mL), free (2.0 pg/mL) and total testosterone (0.5 ng/mL), dehydroepiandrosterone-sulfate (3.5 microg/mL), 17OH-progesterone (0.8 ng/mL), cortisol (13.1 microg/dL), free triiodothyronine (4.8 pmol/L), free thyroxine (18.5 pmol/liters), thyrotropin (1.6 mU/L), and growth hormone (0.2 ng/mL) levels in the normal range, as for as the response to dynamic endocrine tests. MRI showed an enlarged sella turcica, occupied by three distinct hypointense areas that measured less than 5 mm in diameter in the left, medium and right side of the pituitary, respectively. This finding was confirmed 6 months later by a second MRI that revealed also a light increase in microadenomas dimensions. The patient, therefore, underwent neurosurgery by transfenoidal approach. Histologic examination showed no morphologic differences between the specimens obtained from the different microadenomas. Immunohistochemistry evaluation revealed a positive staining for the common alpha-subunit of glycoproteic hormones and negative for the other pituitary hormones tested, while electron microscopy showed cells with a poor secretory apparatus and a variable grade of cell differentiation. In conclusion, we report the fifth case described with multiple pituitary adenomas diagnosed in vivo and the first with three coexisting tumors revealed by MRI before neurosurgery. The occurrence of multiple pituitary tumors emphasizes the role of pituitary and extrahypophiseal factors in the clonal expansion of genetically altered cells.

Adenoma↗
PubMed1997

Granulomatous sarcoidotic lesion of hypothalamic-pituitary region associated with Rathke's cleft cyst.

The association of large pituitary mass, lack of clinical syndromes of pituitary hypersecretion, hypopituitarism and visual field defects suggests the diagnosis of nonfunctioning pituitary adenoma, but the same characteristics can be present in patients affected by other tumorous lesions, cysts, inflammatory processes or vascular disease. The management of these patients depends on a correct diagnosis. A 53-year-old woman was admitted for nausea, vomiting and severe hypotension. For three months she had complained of weakness, sleepness, skin-dryness and loss of weight. Imaging and endocrine evaluations revealed an intra and extrasellar mass causing hypopituitarism without diabetes insipidus. Histological examination of the tissue obtained at transsphenoidal surgery showed a Rathke's cleft cyst, surrounded by areas of noncaseous granulomatous tissue with scattered multinucleated giant cells of foreign body type, similar to a sarcoid lesion. Other systemic sarcoidosis localizations were absent. After two years of full well-being, the patient reported a sudden visual impairment, due to sarcoidosis involvment of the prechiasmatic tract of the optic nerve, that promptly improved with corticosteroid treatment. This report emphasizes the overlap of signs and symptoms between non functioning tumors and nontumoral masses of hypothalamic-pituitary region and underlines the fact that a correct diagnosis is feasible only on histopathological basis. Although, occasionally, the coexistence of Rathke'cyst with pituitary adenoma has been reported, to the best of our knowledge, this is the first report of the association between Rathke's cleft cyst and noncaseating granuloma tissue. Finally, the remission of neurolgical symptoms following corticosteroid therapy confirms this treatment as a valid medical approach and suggests its use in a short therapeutic trial when the diagnosis is doubtful.

Cysts↗
PubMed1993

Coexistence of growth hormone-secreting pituitary adenoma and intracranial meningioma: a case report and review of the literature.

The simultaneous occurrence of a pituitary adenoma and an intracranial meningioma is a rare event. We report the coexistence of an eosinophilic pituitary adenoma and a endotheliomatous meningioma, in the sellar region, and evaluate their endocrine, neuro-radiological and immunohistochemical pattern. A 47-year-old woman affected by acromegaly was referred to us. Serum GH level was 82 ng/ml and remained unresponsive to both OGTT (75 g per os) and iv. GHRH 1-29 (100 micrograms); IGF-1 was 807 ng/ml. Eight hours after acute sc administration of octreotide (100 micrograms) GH returned to normal levels (2.3 ng/ml). CT scan showed a large intra- and suprasellar mass involving the right cavernous sinus, with a retrosellar extension along the tentorium. A slight and inhomogeneous enhancement, with a periferal rim of bright signal was apparent at MRI. Conversely, the retrosellar component showed a bright homogeneous enhancement. The patient, therefore, underwent neurosurgery. Histological examination revealed the coexistence of 2 types of tissue: areas of endotheliomatous meningioma were interspersed among sheets of acidophilic adenoma tissue. Immunohistochemical analysis was performed in order to determine the relationship between the two masses: a positive staining for GH was shown in the areas of adenoma, as against for GHRH, neither in the adenomatous tissue nor in the slices of meningioma. Although MRI showed a latero-sellar post-surgical residual of meningioma, serum GH value was < 1 ng/ml. In conclusion, the relationship between the GH-secreting adenoma and the meningioma is unclear; however the GH-hypersecretion is not induced by a hypothetic GHRH-activity from the meningioma.

Adenoma↗
PubMed1990

[Experience in the therapy of acne with topical administration of spironolactone as an antiandrogen].

The authors report their clinical experience with topical treatment of seborrheic acne with a 5% spironolactone cream in 20 patients, 11 males and 9 females aged 12 to 28 years (average 20.5). Treatment duration, about one month. Treatment proved remarkably effective in that it brought about complete regression of acne in 30%, improvement in 65% of the patients. The drug was always well tolerated, side effects were never observed.

Acne Vulgaris↗
PubMed1988

Abnormal responses to vasoactive intestinal peptide and corticotropin releasing hormone during the spontaneous remission of Cushing's disease.

Abnormalities in hypothalamic-pituitary adrenal axis function were demonstrated by measuring plasma adrenocorticotropin abnormal concentrations following Vasoactive Intestinal Peptide (VIP) and Corticotropin Releasing Hormone (CRH) administration during a phase of remission of Cushing's disease in a 45-year-old female patient. When observed 80 days after the first examination, the patient no longer showed cushingoid features and serum cortisol and plasma ACTH were not abnormally high. VIP infusion (75 micrograms during 12 min) induced a significant increase in serum cortisol and ACTH plasma levels with respect to the normal unresponsiveness. Exaggerated plasma ACTH response to CRH (50 micrograms iv) was also observed. We conclude that the study of ACTH and cortisol response to VIP and CRH may be useful in revealing Cushing's disease even during a remission phase of the disorder.

Adrenal Glands↗
PubMed1987

Abnormal daily periodicity of serum thyrotropin (TSH) and evidence for defective TSH suppression in a case of non-neoplastic syndrome of inappropriate TSH secretion.

A non-neoplastic syndrome of inappropriate secretion of TSH (ITSHS) was diagnosed in a hemithyroidectomized and clinically euthyroid 44-yr-old man, who also exhibited limping (Perthes' disease), genu valgum, pes supinatus and lateral nystagmus. Computed tomography demonstrated an enlarged sella turcica due to empty sella. Baseline serum T3, T4, free T3, free T4 and TSH fluctuated between 179 and 274 ng/dl, 6.0 and 13.2 micrograms/dl, 4.2 and 6.0 pg/ml, 7.6 and 15.3 pg/ml, and 4.3 and 33.0 microU/ml, respectively. Serum alpha-TSH subunit was repeatedly normal (0.36-0.69 ng/ml) over the follow-up period (greater than 3 yr). No changes in serum liver enzymes and lipids were observed after thyroid hormone administration, whereas red blood cell glucose-6-phosphate dehydrogenase (G-6-PD) and urinary OH-proline were slightly enhanced during 120 micrograms/day L-T3 regimen. This also resulted in an inappropriately normal glucagon-stimulated cAMP levels. Tachycardia was experienced only during L-T3 and very high L-T4 dose treatments. Therefore, the patient showed some evidence for thyroid hormone peripheral refractoriness. Patient's TSH was physiologically responsive to agents (thyrotropin releasing hormone, methimazole, the dopamine antagonists domperidone and sulpiride) known to elicit its release into circulation, while it responded paradoxically to those which normally inhibit TSH secretion. In fact, the infusion of somatostatin (320 micrograms/h) or dopamine (4 micrograms/Kg/min), and the oral administration of bromocriptine or nomifensine (two dopamine agonists) or corticosteroids (dexamethasone) provoked an unexpected elevation of both unstimulated and TRH-stimulated TSH levels.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMedDate not supplied

[Acromegalic cardiopathy: a morphofunctional study with color-Doppler echocardiography].

We used color-Doppler echocardiography in an investigation of cardiac morphology and function to verify the cardiac anatomic and functional changes in acromegalic patients with or without hypertension and hyperlipemic states. Fifteen patients with growth hormone-secreting pituitary adenoma (mean age: 47.9 years) and 15 healthy control subjects were studied. We measured serum growth hormone (GH), somatomedin-C, cholesterol, triglyceride levels and carried out echocardiographic studies of the following cardiac morpho-functional parameters: left ventricular diameter, volume, mass and wall systolic stress. Serum GH and somatomedin-C levels were significantly higher in acromegalic patients than in controls (p < 0.001 and p < 0.001 respectively). Echocardiography evidenced increased left ventricular mass (60% of the acromegalic patients; p < 0.05) and increased wall systolic stress (53.3%; p < 0.05). Color-Doppler analysis evidenced abnormal diastolic function in 8 acromegalic patients (p < 0.001). We thus conclude that the most characteristic feature of acromegalic heart disease is left ventricular involvement, diastolic dysfunction, increased left ventricular mass or wall systolic stress. The pathogenesis is most probably multifactorial: essential hypertension, associated with slow and progressive evolution of heart disease, appears to be a determining factor.

Acromegaly↗
PubMedDate not supplied

Pituitary enlargement in post-surgical hypothyroidism misdiagnosed as thyrotroph neoplasia. Report of a case.

Primary hypothyroidism may be associated with enlargement of the sella turcica, due to thyrotroph hyperplasia, in its turn due to the lack of feedback control by thyroid hormones. It may develop independently of the severity or of the duration of thyroid failure. A 42-year-old woman was referred to us. She presented us with a CT scan compatible with a pituitary microadenoma, in the left part of the sella. The patient showed obvious signs of myxedema, due to subtotal thyroidectomy which had been performed 14 months before, because of the presence of multinodular goiter. After operation, the patient has been discontinuously and inappropriately treated with desiccated thyroid. She complained of headache, nausea, galactorrhea without amenorrhea. Serum T4 (0.8 micrograms/dl), serum T3 (47 ng/dl) and TSH (174.5 +/- 60.1 mU/l: M +/- SD of 4 assays) were compatible with primary hypothyroidism as confirmed by TSH hyper-response to i.v. TRH (200 micrograms) and i.v. domperidone (10 mg), and by the normal TSH decrease after orally administered 2.5 mg bromocriptine or 90 min continuously infused 800 micrograms GHIRH. Moreover, an abnormal GH response to TRH was observed, whereas basal and appropriately stimulated PRL levels were normal. Serum alpha-subunit was marginally high (5.92 ng/ml), but alpha-subunit/TSH molar ratio fell within the normal range (0.1 molar ratio). Complete suppression of basal and TRH stimulated TSH values was achieved after a 14-day L-T3 (120 micrograms per day) and 4-month L-T4 (200 micrograms per day) administration. L-T4 treatment, first administered at suppressive doses (200 micrograms per day for 4 months) and subsequently at substitutive doses (150 micrograms per day for 2 months), induced complete remission of symptoms along with normalization of the CT scan picture.

Adult↗