Evaluation of retained testes in adolescent girls and women with complete androgen insensitivity syndrome.

PURPOSE: To evaluate the magnetic resonance (MR) imaging appearance of the testes in women with complete androgen insensitivity syndrome (CAIS), including any benign or malignant changes. MATERIALS AND METHODS: This was a retrospective review of the testicular MR images and histologic reports from 25 patients with CAIS who chose to retain their testes beyond age 16 years and who were imaged between January 2004 and December 2010. Ethical approval was obtained, and informed consent was obtained from each subject to review the medical records, images, and histologic slides and reports. Imaging and histologic findings were compared. RESULTS: Twelve patients (mean age, 24 years; age range, 18-39 years) retained their testes and 13 (mean age, 22 years; age range, 17-37 years) eventually underwent gonadectomy. Review of the MR images showed that testicular parenchyma was heterogeneous in 30 of 46 testes (65%). The most common changes on MR images included simple-looking paratesticular cysts (34 of 46 testes, 74%) and low-signal-intensity, well-defined Sertoli cell adenomas (26 of 46 testes, 56%). Correlation of the histologic and MR imaging findings showed that MR imaging could correctly depict the presence or absence of Sertoli cell adenomas in 19 of 23 testes (83%). Paratesticular cysts were correctly detected in 22 of 23 testes (96%). Microscopic examination showed that the testes were composed of atrophic seminiferous tubules, whereas germ cells were found in 13 of 26 testes (50%). All paratesticular cysts were confirmed to be benign; however, a focus of intratubular germ cell neoplasia was found in a Sertoli cell adenoma. Premalignant foci were detected in three patients, two with intratubular germ cell neoplasia and one with sex cord tumor with annular tubules. No invasive cancers were found. CONCLUSION: MR imaging is accurate in the detection of testicular changes, including paratesticular cysts and Sertoli cell adenomas. Although these changes are usually benign, Sertoli adenomas can sometimes harbor premalignant lesions. MR imaging cannot depict premalignant changes; therefore, the standard of care for patients with CAIS should remain gonadectomy after puberty.

Remnant functioning cervical tissue after laparoscopic removal of cavitated noncommunicating rudimentary uterine horn.

Cavitated noncommunicating rudimentary uterine horn is managed via surgical removal. During the past 20 years this has been performed primarily via laparoscopy. At our multidisciplinary specialized center, this condition has been treated in 29 patients over 10 years. Three patients had pelvic pain and recurrent symptoms of menstrual obstruction at 2, 5, and 6 years after the initial operation. Magnetic resonance imaging revealed blood-filled pelvic masses at the site of the previous procedures. After laparoscopic removal of these masses, histologic analysis confirmed the presence of remnant functioning cervical tissue. This is the first report of long-term follow-up of patients with a history of obstructed rudimentary uterine horn to demonstrate that complications can occur several years after such operations. It is essential that any reports of recurrent pain should be considered seriously and investigated.

Genital prolapse in adult women with classical bladder exstrophy.

INTRODUCTION AND HYPOTHESIS: The aim of this paper is to study the incidence and risk factors for genital prolapse in adult women with bladder exstrophy and to describe the long-term outcome of the Gore-Tex wrap procedure for genital prolapse. METHODS: A retrospective observational study on adult women with classical bladder exstrophy in a tertiary referral centre for disorders of sex development, including complex urogenital anomalies. Medical notes were reviewed and a confidential postal questionnaire on urinary continence and symptoms of prolapse was carried out. RESULTS: Fifty-two women with bladder exstrophy and a mean age of 39 years (range 23 to 63) were identified, of whom 27 patients (52%) developed pelvic organ prolapse. Twenty-three out of 27 (85%) were treated surgically while only 4 patients were managed expectantly. Risk factors for prolapse included pregnancy in 10 (37%) patients and introitoplasty in 1 patient (4%). Of the 23 women treated surgically, 16 (70%) were treated using a Gore-Tex wrap, while 7 had other surgical procedures including colposuspension and hysterosacrocolpopexy. In the Gore-Tex wrap group, 12 out of 16 patients (75%) had had a successful result after the first repair compared with 2 out of the 7 patients (28%) in the group treated using other procedures. Mean follow-up was 8 years (range 1-15). One patient developed an infection after the procedure and another patient had Gore-Tex erosion. CONCLUSIONS: Prolapse is a common gynaecological complaint in adult women with bladder exstrophy and the majority will require treatment. At present the Gore-Tex wrap offers good results with a low rate of serious complications.

Management of vaginal agenesis.

Rokitansky syndrome and complete androgen insensitivity syndrome are the most common causes of vaginal agenesis. Treatment should be deferred until adolescence to allow informed consent and compliance. The best treatment for vaginal agenesis remains controversial although vaginal dilation therapy is still widely considered the first line treatment because success rates are high and associated risks are low. A variety of surgical options are also available, each with enthusiastic proponents. Long-term outcome studies on most surgical techniques, however, are still lacking and until recently most studies have reported on success rate in terms of anatomical success only, without including sexual function. Moreover, the medical literature lacks prospective comparative outcome studies, meaning that current choice of surgical procedure relies greatly on the surgeon's preference and experience.

The role of examination under anesthesia (EUA) and vaginoscopy in pediatric and adolescent gynecology: a retrospective review.

BACKGROUND: Examination under anesthesia (EUA) with diagnostic vaginoscopy is an invaluable method in the lower genital tract assessment of pediatric and adolescent females. The literature on this topic remains scarce. METHODS: This is a retrospective medical notes review of all patients who underwent EUA with or without vaginoscopy over the past 5 years at a pediatric and adolescent gynecology unit specializing in disorders of sex development (DSD). RESULTS: From 2005 to 2010, 83 patients underwent 92 procedures. All procedures were performed under general anesthesia, and a 3-mm pediatric cystoscope was used for vaginoscopy. Of the 92 cases, 33 (36%) were EUA alone and 59 (64%) consisted of a combined EUA and vaginoscopy. The mean age was 13.3 ± 3.7 years. The most common indications included assessment for reconstructive surgery (33.7%), vaginal stenosis (21.7%), vaginal discharge (19.6%), vaginal bleeding (16.3%), and pelvic pain (8.7%). Most (61%) of those presenting for assessment for reconstructive surgery had a DSD and history of surgical correction in early childhood. In 88 cases (96%), the evaluation was satisfactory and a diagnosis was reached or normality confirmed. Four cases (4%) required further investigation. No significant intraoperative or postoperative complications were encountered. Of the 92 cases, 15 (16%) required a further minor procedure, which was performed at the time of the EUA/vaginoscopy. Another 33 (36%) required further major surgery, which was performed at a later date. CONCLUSION: EUA/vaginoscopy is a safe and highly useful method in the assessment of the lower genital tract in pediatric and adolescent patients.