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.

Vesicoureteral reflux in infants: what do we know about the gender prevalence by age?

OBJECTIVE: Vesicoureteral reflux (VUR) affects up to 1% of Caucasian children. Primary VUR is characterized by failure of the ureterovesicular junction to prevent urine from traveling in a retrograde fashion from the bladder to the ureters and the kidneys. Several reports in the literature describe the prevalence of this condition in pediatric patients; overall, VUR affects more males during infancy and with higher grades. However, a thorough consideration of these articles reveals important contradictions regarding the prevalence by gender and age. We analyzed those contradictions and suggested a possible explanation based on our single center experience with this patient group. In particular, for the age interval 0-2 years: we have found that (1) VUR mostly affects boys; (2) the male/female ratio steadily declines over time; (3) the unequal prevalence between males and females essentially disappears when children reach the age of two years. CONCLUSIONS: The natural history of VUR in infant boys differs from that of infant girls, and therefore requires a gender-specific approach. Available data support the need to redefine the categorization and clinical guidelines for this disease.

Posterior reconstruction and outcomes of laparoscopic radical prostatectomy in a high-risk setting.

BACKGROUND AND OBJECTIVES: To detail the technique and evaluate the impact of a personal modified posterior reconstruction technique (PDR) on the outcomes of extrafascial laparoscopic radical prostatectomy (eLRP) in a consecutive series of 52 patients affected by high-risk prostate cancer (HRPCa). METHODS: From October 2007 to March 2012, 52 patients underwent PDR during eLRP for HRPCa. Fifty-four patients who underwent eLRP for HRPCa with no PDR were considered as historical controls. Mean operative time (MOT), mean catheterization time (MCT), % continence and quality of life (QoL) at a scheduled follow-up, % anastomotic leakage, % adjuvant therapy were compared between the groups. Percentage of continence and QoL were prospectively assessed by self-administered validated questionnaires (ICI-Q-SF; SF-36) at 1, 3, 6, and 12 months. RESULTS: PDR was associated wither higher continence rates at 1 and 3 mo (P = .028, P = .006), a lower incidence of cystographic leakage (P = .002), and an increased adjuvant radiotherapy rate (P = .008). At 1- and 3-mo interval, in the PDR group, we found a higher number of patients reporting better general health, (P = .01, P = .03) reduced role limitations due to physical health, (P = .02, P = .001), and emotional problems (P = .001, P = .02). CONCLUSIONS: PDR is associated with a lower degree of anastomotic leakage, and it significantly enhances urinary continence at 1 and 3 mo. The increased adjuvant radiotherapy rate and quality of life after surgery observed with our technique suggest that in the high-risk setting an early functional recovery may substantially influence the oncologic outcome of eLRP.

Buccal mucosa urethroplasty for the treatment of bulbar urethral strictures.

PURPOSE: We report the results of urethroplasty with a free graft of buccal mucosa as a dorsal onlay for the treatment of bulbar urethral strictures. MATERIALS AND METHODS: Since June 1994, 30 patients with bulbar urethral strictures have been treated with buccal mucosa urethroplasty. Urethroplasty was performed with a free graft of buccal mucosa using a ventral onlay in the first 7 patients and a dorsal onlay in 23. Dorsal urethrotomy was performed with a Sachse urethrotome after the bulbar urethra was separated from the corpora. The buccal mucosa onlay was sutured to the urethra and corpora cavernosa to ensure a patent urethra. RESULTS: At 20-month followup (range 3 to 50) the success rate was 96% (29 of 30 patients). Urethral stricture recurred in only 1 of 7 patients in the ventral onlay and none of 23 in the dorsal onlay group. CONCLUSIONS: Preliminary results of urethroplasty for bulbar urethral strictures with a dorsal onlay graft of buccal mucosa are excellent. Longer followup is needed to evaluate definitive results.

[The Studer ileal bladder and the Paduan ileal bladder: comparison of 2 techniques]. / Vescica ileale sec. Studer e vescica ileale padovana: due tecniche a confronto.

Between January 1988 and December 1995 48 orthotopic detubularized and reconfigured ileal neobladder were carried out with two distinct surgical procedures in the same Hospital. 33 underwent lower urinary tract reconstruction using Studer's technique with an afferent ileal tubular isoperistaltic segment; in 15 patients the ileal substitution of the bladder was performed with Paduan ileal bladder (VIP). In any case an ileal low pressure reservoir was obtained with similar functional capacity (400 ml. at the urodynamic control), as using the same length of ileum (40 cm) for the reconstruction of the reservoir itself. In order to other functional aspects (e.g. diurnal and nocturnal continence) results were analogous if a correct rehabilitation program was observed. Significant post-voiding residual and late neobladder decompensation was prevented with adequate mictional training. Early and late complications (globally 19-24%) were evaluated: strictures of ureteroileal and ileo-urethral anastomoses were rare; an ileoureteral reflux was observed at a cystographic control in 50% of Studer group, but never clinically significant and only in 20% of VIPs. No clinically significant metabolic changes were found. Survival was satisfactory at a mean follow-up of 48 months.