Search

La sindrome da carcinoide, la cui incidenza e in aumento, rappresenta e la piu frequente sindrome correlata ai tumori neuroendocrini (NET). L’eziopatogenesi non e ancora chiaramente definita, anche se e ormai chiaro assodato il ruolo patogenetico della serotonina. Il quadro clinico e dominato da diarrea e flushing, che possono assumere diverse caratteristiche a seconda della sede del tumore (midgut o foregut). La piu grave associazione e la cardiopatia da carcinoide, spesso asintomatica ma che necessita di screening e follow-up per prevenirne le gravi conseguenze. La diagnosi biochimica si basa sulla misura dell’acido 5-idrossi-indolacetico (5-HIAA) nelle urine delle 24 ore e, quando e dove disponibile, anche sulla sua concentrazione ematica. La terapia medica classica si basa sugli analoghi della somatostatina, ma stanno tuttavia emergendo nuove possibilita di trattamento (inibitori della sintesi della serotonina e terapia radiorecettoriale). Necessaria un’adeguata prevenzione delle crisi da carcinoide che possono essere associate a interventi chirurgici e anestesia. Diagnosi tempestiva e appropriata e follow-up integrato sono garanzie per una gestione ottimale della condizione morbosa.

The incidence of differentiated thyroid cancer has been increasing in the last decades all over the world. Such a steady growth cannot be entirely attributable to more intensive thyroid nodule screening and more sensitive diagnostic procedures. Several environmental factors have changed with sufficient rapidity in the same time frame and may represent credible candidates for this increase. They include modified iodine intake, lifestyle-associated risk factors, exposure to various toxic compounds, pollutants and xenobiotics, nutritional deficiencies, eating habits and comorbidities. Foremost, nutritional patterns have gained high interest as possible promoters and modifiable risk factors for thyroid cancer in recent years. The aim of this narrative review is to focus on the relationship between thyroid cancer and nutritional factors, dietary habits and obesity. Low iodine intake has been associated to increased risk of thyroid cancer, favoring the development of more aggressive histotypes. Moreover, correction of iodine deficiency can shift thyroid cancer subtypes toward less aggressive forms, without affecting the overall risk for cancer. Actually, evidence regarding the association between selenium and vitamin D deficiency and thyroid cancer is very limited, despite their well-known anti-cancer potentials, and the clinical usefulness of their supplementation is still uncertain in this setting. Albeit the relationship between single foods and thyroid cancer is difficult to examine, fish and iodine-rich foods, vegetables, and fruits might exert protective effects on thyroid cancer risk. Conversely, no clear association has been found for other foods to date. Lastly, a clear association between obesity and the risk of thyroid cancer, with more aggressive behavior, seems to emerge from most studies, likely involving variations in thyroid function and chronic inflammation mediated by cytokines, insulin, leptin and adiponectins. Although no definite association between dietary factors and thyroid cancer has been firmly established so far, some nutritional patterns, together with excessive weight, seem to play a relevant role in thyroid cancer carcinogenesis as well as in its severity and aggressiveness. These effects may play an additive role to the well-established one exerted by environmental carcinogens, such as pollutants and radiation exposure.

La versione originale di questo articolo purtroppo conteneva un errore. I nomi di due farmaci sono stati erroneamente inseriti nella tabella al momento della pubblicazione iniziale. La tabella corretta e riportata di seguito e la tabella dell’articolo originale e stata aggiornata. L’editore desidera scusarsi per questo errore. QUADRO SINOTTICO DEI FARMACI CITATI Principio attivo Nomi commerciali Dosaggi Octreotide Sandostatina fl 50 mcg/ml, 100 mcg/ml, 500 mcg/ml; sc, ev Octreotide LAR Sandostatina LAR 1 fl 10 mg, 20 mg, 30 mg; im (ogni 28 giorni) Lanreotide Ipstyl 1 fl 60 mg, 90 mg, 120 mg; im (ogni 14, 21, 28 giorni) Telotristat Xermelo cp 250 mg; os Pasireotide Signifor fl 0,3 mg, 0,6 mg, 0,9 mg; sc Everolimus Afinitor cp 2,5 mg, 5 mg, 10 mg: os 177Lu-DOTATATE Lutathera fl 370 MBq/mL; ev 131I-MIBG Iobenguano 131 I fl 185 MBq/ml, 246,7 MBq/ml, 493,3 MBq/ml; ev

Context Hirsutism often occurs in women with polycystic ovary syndrome (PCOS). The efficacy of oral contraceptive pill (OCP) plus antiandrogens in the treatment of its severe expression is controversial due to the lack of randomized, double-blind, long-term studies. Objective The primary outcome was the reduction of hirsutism in PCOS women objectively measured by videodermoscopy on the androgen-sensitive skin areas assessed by the modified Ferriman and Gallwey (mF&G) total score, after 12 months of therapy with OCP + bicalutamide (BC) vs OCP plus placebo (P). The secondary outcomes were to evaluate tolerability of BC and body composition as well as the occurrence of adverse events. Design An experimental, phase 3, prospective, multicenter, randomized, double-blind, P-controlled trial. Patients were evaluated at the baseline visit, at 6 and 12 months during treatment, and 6 months' posttreatment. Participants Seventy women with classic PCOS (severe hirsutism, oligoanovulation, and ovarian polycystic ovarian morphology). Intervention Patients received OCP + BC (50 mg/d) or OCP + P for 12 months. Results The repeated measures analysis of variance showed that both treatments were effective in reducing hirsutism: The OCP + BC group had a higher reduction compared with the OCP + P group. No adverse effects were described during treatment except an increase in total cholesterol and low-density lipoprotein in the OCP + BC group. Conclusions The association of OCP + BC is well tolerated and significantly more effective than OCP alone in treating severe hirsutism. We suggest a combined use of the videodermoscopic index and mF&G to evaluate the effects of androgen deprivation therapy for hirsutism.

Here we present the case of a 60-year-old woman with a rare sellar region atypical teratoid/rhabdoid tumor (AT/RT), complicated by lung metastasis and treated with neurosurgery, radiotherapy, and chemotherapy. The patient had recurrent headache associated with left cavernous sinus syndrome after a previous endonasal transsphenoidal resection for a presumptive pituitary macroadenoma. Pituitary magnetic resonance imaging showed a tumor regrowth in the original location with a haemorrhagic component involving the left cavernous sinus. A near complete transsphenoidal resection of the sellar mass was performed followed by 3 months of stereotactic radiotherapy. Because of a worsening of the general clinical conditions, respiratory failure, and asthenia, the patient underwent a contrast enhanced computer tomography of the whole body which showed the presence of lung metastasis. The histopathological diagnosis on samples from pituitary and lung tissues was AT/RT. The patient survived 30 months after diagnosis regardless chemotherapy. In the adult, the AT/RT should be considered as a possible rare, aggressive, and malignant neoplasm localized in the sella turcica.

La sindrome da insensibilita agli androgeni (androgen insensitivity syndrome o AIS) e una condizione che fa parte dei disturbi della differenziazione sessuale ed e caratterizzata da alterazioni dei meccanismi embriogenetici coinvolti nella corretta evoluzione del fenotipo sessuale. E causata da mutazioni del gene del recettore degli androgeni che determinano l’assenza o l’alterata funzionalita del recettore stesso. Dal punto di vista clinico si manifesta con un ampio spettro di condizioni patologiche che insorgono nel feto di sesso cromosomico e gonadico maschile. La forma completa (complete androgen insensitivity syndrome o CAIS) e caratterizzata dall’assenza o completa incapacita funzionale del recettore e presenta un fenotipo completamente femminile. Le forme parziali, invece, sono classificate in base al grado di sensibilita recettoriale e includono forme cliniche con ambiguita sessuale piu marcata (partial androgen insensitivity syndrome o PAIS) il cui fenotipo puo essere anche quasi completamente femminile e forme subcliniche in cui si puo avere, come unico segno, l’infertilita maschile (mild androgen insensitivity syndrome o MAIS). La grande variabilita clinica della AIS e la difficolta che, soprattutto in fase neonatale, pub comportare la diagnostica differenziale con gli altri disordini della differenziazione sessuale rendono necessario definire un corretto inquadramento diagnostico che segua un diverso iter a seconda dell’eta del paziente con sospetto di AIS. Attualmente l’indagine genetica rappresenta il gold standard per identificare la patologia. Questo consente di avviare un iter terapeutico mirato alla specifica condizione patologica che preveda la collaborazione di diversi specialisti che garantiscano una gestione globale del paziente sotto l’aspetto endocrinologico e psicosessuologico.

Acromegaly is a chronic debilitating disorder resulting from excessive secretion of growth hormone (GH) and consequent increase in insulin-like growth factor I (IGF-I), usually caused by a pituitary somatotroph adenoma. Effective treatment aims to ameliorate symptoms and signs of the disease and to lower mortality rate. In particular, high morbidity and mortality are partly related to the presence of insulin resistance due to the action of GH on liver, muscle and adipose tissue. Insulin resistance and/or reduced insulin sensitivity physiologically result in hypersecretion of insulin from the pancreas. This compensatory state of hyperinsulinemia is felt to be a first and more important marker for this condition. Adequate control of GH excess by surgery or pharmacotherapy is associated with decreased insulin resistance, resulting in reduced plasma insulin and glucose levels or improved glucose tolerance. Despite divergent effects of both somatostatin and somatostatin analogs on GH, insulin and glucagon secretion, and glucose absorption, treatment with the somatostatin analogs octreotide and lanreotide has only limited effects on glucose metabolism. However, glucose sensitivity has been formally examined using a hyperinsulinemic euglycemic clamp only in a minority of studies. Treatment with the GH-receptor antagonist pegvisomant improves insulin sensitivity, thus decreasing circulating fasting insulin and glucose levels. Assessment of insulin secretion and glucose levels in acromegalic patients during administration of the above compounds is thus mandatory.

Introduction Sertoli-Leydig cell tumors (SLCTs) are rare tumors mostly occurring in young women. Here we report an unusual case of a SLCT with simultaneous occurrence of endometrioid adenocarcinoma of the endometrium in a woman in menopause. Case Report A 67-year-old woman presented with progressive signs of virilization. Blood tests showed increased levels of testosterone, delta-4-androstenedione, and dehydroepiandrosterone (DHEA). DHEA-sulphate, 17β-estradiol, estrone, and sex-hormone binding globulin serum levels were within the normal range. Magnetic resonance imaging revealed a solid mass of 2.7 × 2.9 cm in the right ovary set against the background of the uterus. The patient underwent bilateral salpingo-oophoretomy with hysterectomy. The mass in the right ovary was a differentiated SLCT. Incidentally, the endometrium revealed an endometrioid adenocacinoma. Following surgical treatment the plasma androgens dropped to normal levels, and signs and symptoms of virilization improved. Conclusion SLCT should be suspected in postmenopausal women who present rapid progressive androgen excess symptoms with hyperandrogenemia.