Search Results (3)

Background and Objectives: Persistent urogenital sinus (PUGS) is a rare congenital anomaly resulting from disruptions in urogenital development during embryogenesis. Characterized by the confluence of the vaginal canal and urethra into a single channel, it poses diagnostic and management challenges, particularly in adult patients. Surgical correction remains the primary treatment at an early age, yet there are no universally accepted guidelines regarding treatment at later stages in life. We explored current evidence on the management of high urogenital sinus (HUGS) in adults, focusing on surgical techniques, outcomes, perioperative care, and follow-up. Materials and Methods: A scoping review was conducted using PubMed, Scopus, and Google Scholar, including studies published up to August 2024. Search terms included “high urogenital sinus”, “adult patients”, and related conditions. Articles were included if they addressed clinical, diagnostic, or therapeutic data on HUGS in adult populations. Data extraction was performed independently by two reviewers, and a PRISMA-ScR flow diagram was used to outline the study selection process. Results: Nine studies met inclusion criteria, with data on surgical techniques, perioperative care, and long-term outcomes extracted for analysis. The included studies highlighted diverse surgical approaches, such as feminizing genitoplasty, buccal mucosa vaginoplasty, posterior prone techniques, and robotic-assisted urogenital sinus mobilization. Complications like vaginal stenosis, urethrovaginal fistula, and urinary incontinence were reported. Long-term outcomes were under-reported, with limited data on sexual function and patient satisfaction. Hormonal therapies, including glucocorticoids, played critical roles in managing cases associated with congenital adrenal hyperplasia (CAH). Conclusions: The management of HUGS requires a multidisciplinary approach integrating advanced surgical techniques and individualized perioperative care. While short-term outcomes are generally favorable, long-term data on sexual function and quality of life remain scarce. Future research should prioritize longitudinal studies to address these gaps, aiming to optimize surgical outcomes, patient satisfaction, and psychosocial well-being. Full article

Urachal cancer arises from an embryologic remnant of the urogenital sinus and allantois and accounts for approximately 1% of bladder malignancies. The most encountered histologic subtype is adenocarcinoma. We present a 76-year-old man suspected to have an advanced sigmoid cancer infiltrating nearby organs. A supplemental 18F-FDG PET/CT showed high tracer uptake in a tumorous process coherent with the dome of the bladder wall involving the sigmoid colon. Cystoscopy revealed a normal bladder wall, except for a small edematous area in the anterior bladder. Biopsies from the sigmoid colon and transurethral resection from the bladder confirmed a urothelial carcinoma originating from the urachus. Full article

Objective. We present our experience in diagnosing, gender assignment, and surgical management of sexual ambiguity in 46,XY mixed gonadal dysgenesis.
Material and methods. A retrospective study of five cases treated from 2003 to 2006 was performed. Clinical picture, operative findings, testosterone levels, and immunohistochemistry of gonads for the expression of FOXL2, SOX9, AMH, AMHr, C-kit, and PLAP were analyzed.
Results. All patients had ambiguous genitalia, urogenital sinus, uterus, testicle on one side, and a streak gonad on the other. Four patients were reared as male and one as female. Stimulation by human chorionic gonadotropin showed good penile size and testosterone response. All patients underwent laparoscopic gonadal biopsy and/or gonadectomy. Histological studies showed the presence of sparse primordial follicles surrounded by embryonic sex cords in the streak portion of gonads. Germ cells were C-kit positive in all and PLAP positive in four patients. FOXL2 expression was detected in four streak gonads and in none of testes. AMH expression was found only in testes. SOX9 expression was found in both investigated testes and in three out of four streak gonads investigated.
Conclusions. 46,XY mixed gonadal dysgenesis should be differentiated from ovotesticular and other types of 46,XY disorders of sexual differentiation by the typical gonadal histology and internal genital structure. High testosterone level after stimulation and good response to testosterone treatment in 46,XY mixed gonadal dysgenesis could orient toward male sex assignment. There are different patterns of gene expression in testicular and streak gonads with a switch to FOXL2 positivity in streak gonads. Early gonadal and genital surgery is recommended. Full article