Androgen insensitivity syndrome.

OBJECTIVE: We provide a review of the literature about the Androgen Insensitivity Syndrome (AIS), its onset and associated developmental anomalies and the genetic alterations causing it. MATERIALS AND METHODS: We searched PubMed with a larger emphasis on the physiology, genetics and current management of AIS. RESULTS: AIS is an X-linked recessive Disorder of Sex Development (DSD). It is caused by mutations of the Androgen Receptor, and their large amount and heterogeneity (missense and nonsense mutations, splicing variants, deletions, and insertions) are responsible for the wide spectrum of possible phenotypes of patients, divided into Partial AIS (PAIS) and Complete AIS (CAIS). Once the clinical and laboratory investigations have laid the foundation for a diagnostic hypothesis, it is important to identify the actual karyotype of the individual and search for the mutation in the Androgen Receptor to diagnose with certainty the syndrome. Alternatively, in the absence of such evidence, the diagnosis should more properly be an AIS-like condition, which we describe as well in our report. CONCLUSIONS: The management of this DSD is based on pharmacotherapies, surgery and psychological support: all of them must be directed to facilitate the patient's life, considering his/her sexual identity.

[The use of bipolar PlasmaKinetic resectoscope in endoscopic resection of the prostate: our experience].

Prostatic endoscopic resection (TURP) is a reference method in the treatment of prostatic obstruction. In the past decades, the method used a monopolar resectoscope. In the last years, various technologies have been studied to improve the efficacy of endoscopic resection. As per our experience, we have thence ascertained the variations of the hematic crasis and of the mictional asset in TURP patients treated with bipolar knives. 20 patients underwent bipolar plasmakinetic resection of the prostate. Their age ranged between 58 yrs and 82 yrs (av.: 70.2 yrs), the adenoma volume, checked with TR ultrasound scanning, was between 33 and 44 cc (av.: 37.6), the Qmax was between 6.4 and 9.0 mL/min (av.: 7.42 mL/min). A 24Ch resectoscope and spinal anesthesia were used. Bleeding during resection was never relevant; therefore resection never had to be stopped. After about 36 hours from surgery, the patients' sanguification was checked again: a 6.53% reduction of the number of erythrocytes, compared to pre-surgery data, was observed, together with a 6.73% decrease of hemoglobin concentration, and a 6.3% decrease of hematocrit. Continuous irrigation was suspended during the first day, catheter was removed on the 48th hour in 15 cases, and on the 72nd in 5 cases: the patients were discharged on day 3 in 16 cases, and on day 4 in 4 cases. A flux evaluation was performed after 3 months, which showed a Qmax between 16.6 and 24 mL/min (av.: 19.11), with a significant increase in the maximum flow rate. The use of the new technologies in prostatic endoscopic resection has allowed us to improve the efficacy of such a method. Above all, the use of a bipolar electrosurgical knife enables us to associate a basal hemostasis with the resection of the prostatic tissue. Thus, the hematic loss is low, as we have been able to ascertain also in our own experience. This gave us the possibility to quickly stop continuous irrigation and to early remove the catheter. This way, hospitalization was sensibly reduced (av. 76.8 hours). The maximum flow rate, in the short term, has been good. We have been able, in our experience, to assess that this technology represents a useful guarantee to improve the results of prostatic endoscopic resection.

[Sexual rehabilitation with intracavernous PGE1 injections and oral drug administration in diabetic patients non-responder to oral therapy alone].

Diabetes is an important risk factor in erectile dysfunction (ED), acting via several mechanisms. We assessed the efficacy of intracavernous injections (ICI) rehabilitation and oral systematic therapy in diabetic patients, as well as the response of controls to oral therapy 'on demand'. MATERIALS AND METHODS. Sixteen diabetic patients with ED were treated with vasoactive drugs orally when needed, without satisfactory erections. The patients underwent then ICI rehabilitation with PGE1 20 mcg twice weekly for 4 weeks, followed by the administration of oral drugs twice weekly for 4 weeks. Before and after rehabilitation, the patients completed a detailed anamnestic protocol to study their libido (always present); they answered questions Q3 and Q4 of the IIEF questionnaire. During ICI, a study with dynamic echocolordoppler (ECCD) was carried out. All patients had Type 2 diabetes: 10 were treated with oral antidiabetics, 4 were treated with insulin, and in the other 2 patients, treated with insulin, a sensitive neuropathy of the lower limbs was diagnosed. Fourteen patients were treated with antihypertensive drugs. RESULTS. Before rehabilitation, the mean responses to questions 3 and 4 of the IIEF (International Index of Erectile Function) questionnaire were 1.6 and 1.5 respectively; after rehabilitation, the mean responses were 2.68 and 2.5, respectively. The ECCD test showed an arterial component in 4 cases and a high end-diastolic velocity (EDV) in 14 cases. Four patients (25%), 2 of which had neuropathy, and 2 were in advanced age, did not respond to PGE1 or to oral therapy, 4 patients (25%) (2 treated with insulin and 2 by oral therapy) responded to ICI but not to oral therapy, while 8 patients (50%) showed a good response to both injectable and oral therapy, with good Q3 and Q4 scores. CONCLUSIONS. Good endothelial function appears to be essential for the maintenance of acceptable erectile function. Diabetes has a negative effect on this function, as does hypoxia and low perfusion. Based on the principle that a good erection improves endothelial function, we tried to determine if oral systematic and intracavernous rehabilitation would improve erectile function in diabetic patients. The results indicate that diabetes interferes with erectile function, compromising the effects of the vasoactive drugs. However, integrated systematic rehabilitation appears to allow a good erectile response to both intracavernous and oral therapy in a large number of cases. Therefore, we support this kind of rehabilitative protocol in the treatment of ED in diabetic patients.

Cancer of the large intestine and previous cholecystectomy: does a relationship really exist?

The possible relationship between cancer of the large intestine and previous cholecystectomy has been studied both experimentally and clinically but the results are contradictory. The present study, carried out in 250 patients undergoing intestinal resection for colorectal cancer and in 200 subjects who underwent cholecystectomy more than 10 years previously (with control groups) did not evidence any statistically significant relation (p = 0.2) between cholecystectomy and cancer of the large intestine. On the basis also of data from the literature, the etiopathogenetic hypotheses of the supporters of such relationship are reviewed and the different factors potentially able to explain the discrepancy between the concordant results of experimental studies and the contrasting ones of the clinical and epidemiologic experiences are examined. From the practical point of view, it is felt that a periodic (once a year) clinical and laboratory (guaiac test) control followed, when necessary, by x-ray/and or endoscopic examination should be carried out in all the patients over the age of 40, cholecystectomized since 10 years of longer, especially if females.

Raised plasma concentrations of platelet factor 4 (PF4) in Crohn's disease.

Plasma platelet factor 4 (PF4), secreted by the platelets, is an index of platelet aggregation and thromboembolic risk. The authors assessed PF4 in 20 patients with Crohn's disease (ileitis in 13 patients, ileocolitis in seven) and in 20 healthy volunteers. Disease activity was low (Crohn's Disease Activity Index less than 150) in 11 patients and high in nine. Radioimmunoassay of PF4 using Abbott's Kit was performed on one sample of plasma from each subject (nv less than or equal to 0.324 nmol/ml), (nv less than or equal to 10 ng/ml). A significantly higher concentration of PF4 was found in Crohn's disease patients: 4.625 +/- 1.1 nmol/ml (142.5 +/- 36 ng/ml) than in the control group: 0.189 +/- 0.07 nmol/ml (5.6 +/- 4.8 ng/ml) (Z = 5.396, p less than 0.0001). No correlation was present between PF4 levels and activity, the site of disease, or medical treatment with or without prednisone.