Appearance Of External Genitalia Research Articles

Clinicopathological analysis of gonadal differentiation of sex development disorder

Objective: To investigate pathological features and differential diagnosis in the gonads with disorder of sex development. Methods: Thirty-six cases of clinically diagnosed hermaphroditism with gonadal biopsy in the Department of Pathology, the Seventh Medical Center of People's Liberation Army General Hospital from April 2007 to July 2021, were collected. All biopsy pathological sections were reviewed, and the gonadal cases with abnormal pathological morphology were screened out. The clinical and imaging data and karyotype of these cases were reviewed. Additional immunohistochemical staining was performed and relevant literature was reviewed. Results: Seven cases of ovotesticular disorder of sex development (OTDSD) were identified, which were characterized by the presence of testicular and ovarian differentiation in the same individual. All patients were under 15 years old and presented with abnormal appearance of external genitalia, and the ratio of male to female was 2∶5. Ultrasonography showed testicular structure in all female patients and cryptorchidism in all male patients. The most common karyotype was 46, XX. One case with undifferentiated gonadal tissue (UGT) and one case with streak gonads were screened out. UGT germ cells were neither in seminiferous tubules nor in follicles, but randomly distributed in an ovarial-type interstitial background, sometimes accompanied by immature sex cords. Streak gonads resembled UGT without germ cells. FOXL2 was positive in granulosa cells, but negative in Sertoli cells. SOX9 expression was opposite. OCT4 was weakly positively/negatively expressed in oocytes and positively expressed in the germ nuclei of UGT. Conclusions: Four differentiation patterns need to be identified in the gonadal biopsy: ovarian differentiation, testicular differentiation, undifferentiated gonadal tissue and streak gonad. The positive expression of SOX9 indicates testicular differentiation, while the positive expression of FOXL2 confirms ovarian differentiation, and the expression of both markers in the same tissue indicates ovotestis differentiation. It is very important to identify UGT, because that has a high probability of developing into gonadoblastoma in the future.

Sexuality and fertility desire in a large cohort of individuals with 46, XY differences in sex development

ObjectiveTo analyze aspects of sexual life and fertility desire among 46, XY DSD people, including those who changed their gender. MethodsIt is a cross-sectional study including 127 adults (> 16 years of age) with 46, XY DSD (83 females; 44 males) from a Single Brazilian Tertiary-Care Medical Center. ResultsSexual fantasies and masturbation were more frequent in 46, XY DSD males, whereas orgasm and sexual life satisfaction were similar in both genders. More 46, XY DSD men than women had a long-term romantic relationship. 46, XY DSD women with prenatal androgen exposure reported more fear of being romantically rejected. External genitalia appearance at birth did not impact the sexuality of 46, XY DSD women after surgical genital treatment had been completed. Overall, the sexual life was similar between 46, XY men assigned as males and those who changed to the male gender. Regarding sexual orientation, most self-reported as heterosexual (91% and 92% of women and men, respectively). The desire for fertility had a similar prevalence in both genders, but more women than men considered infertility a barrier to a long-term romantic relationship. Twelve individuals (7 males) had children; 10 out of 12 have adopted children. ConclusionFertility desire was shared among 46, XY DSD people, regardless of gender. Prenatal androgen exposure reduced the desire for motherhood in 46, XY women. 46, XY DSD people who changed from female to male gender presented similar sexual parameters as those assigned as males. Among females, virilized genitalia at birth did not affect sexuality once the surgical treatment is completed.

OR05-1 Testicular Magnetic Resonance Imaging (MRI) Findings and Predictive Factors of Gonadal Neoplasia in Complete Androgen Insensitivity Syndrome

Abstract Introduction Complete Androgen Insensitivity Syndrome (CAIS) is characterized by a complete external genitalia appearance and testicular development in 46,XY individuals carrying inactivating mutations in the AR gene. Prophylactic gonadectomy versus saving gonads has been debatable in CAIS management, mainly due to the absence of an accurate biomarker for testicular germ cell tumors (GCT). Objective to cross the preoperative pelvic MRI data with the histological gonadal findings from CAIS patients who underwent prophylactic gonadectomy to identify predictive factors of GCT development. Methods We evaluated 30 gonads from 15 CAIS patients with proven AR mutation. All performed pelvic MRI before gonadectomy through the same MRI machine and were included in the MRI data analysis. Three blinded radiologists specialized in urology performed image analysis. The immunohistochemical markers PLAP, c-KIT, OCT3/4, SALL4, ER, alpha-inhibin, CD99, and calretinin were performed. Results Nine (60%) performed gonadectomy after puberty (>16 years old). We identified one case of classical seminoma and one case of Sertoli cell neoplasia (at 18 and 19 years of age, respectively). Overall, the prevalence of neoplasia was 13.3%. No case of premalignant intratubular germ cell neoplasia was detected.Histological data revealed a high prevalence of benign lesions (n=12; 80%). Leydig Cell Hyperplasia (67%), stromal fibrosis (53%), Sertoli Cell nodules (47%), hamartomatoums nodules (40%) and paratesticular cysts (67%) which are more frequent after puberty (p<.01). MRI detected heterogeneity in all cases harboring hamartomatoums nodules, Sertoli cell nodules, and testicular neoplasia. Benign lesions were bilateral in all cases. Regarding the MRI data, the presence of testicular cystic mass (by tumoral necrosis) on MRI and tumor size (higher among malignancies) correlated with malignancy (p=.008 and p=.03, respectively), whereas gonadal location (inguinal/abdominal), presence of solid nodules, T2WI and postcontrast features, nodule diffusion restriction, and presence of perigonadal cysts did not. Chronological age >16 years was associated with malignancy with a 4.3 OR (1.6–11.69). Conclusion Pelvic MRI is sensitive to detect gonadal nodules in CAIS patients, regardless of the gonad position, but most nodules are benign. Testicular malignancy should be suspicious in the presence of testicular cystic mass and large testis size in CAIS patients >16 years old. Presentation: Saturday, June 11, 2022 11:30 a.m. - 11:45 a.m.

Statistically Significant Difference in the First-trimester Fetal Heart Rate between Genders?

Background: The study aims to establish the pattern of fetal heart rates in the first and second trimesters and determine whether there is a statistically significant difference in the first-trimester fetal heart rate (FHR) of males and females.
 Methods: This retrospective observational research is a study of FHRs measured at 11+0–13+6 wk and 18+0–23+6 wk, and ultrasound scan-diagnosed fetal sex at 18+0–23+6 wk. Singleton fetuses with nonambiguous external genitalia were recruited. The FHR was measured in B or M mode with Pulsed Wave Doppler, while ultrasound appearance of external genitalia determined the fetal sex at 18+0–23+6 wk. Student’s t-test and Chi-square test were used for data analysis, and statistical significance was set at p < 0.05.
 Results: A total of 2437 pregnancies meeting the study criteria were analyzed. The fetal sexes were 1398 (57.4%) males and 1039 (42.6%) females. There was no statistically significant difference in the first-trimester FHR between males and females (p = 0.74). However, females had higher mean FHR in both the first and second trimesters (First trimester: 165.4 ± 18.2 bpm vs 163.2 ± 17.1 bpm and Second trimester: 150.9 ±22.6 bpm vs 141.9 ±23.1 bpm). The FHR reduces with the increase in gestational age.
 Conclusion: There is no statistically significant difference in the first-trimester FHRs between sexes.

So, and if it is not congenital adrenal hyperplasia? Addressing an undiagnosed case of genital ambiguity

BackgroundThe Congenital Adrenal Hyperplasia due to 21 hydroxylase deficiency is the most common cause of genital ambiguity in persons with XX sexual chromosomes. Genital ambiguity among persons with XY sexual chromosomes comprises diverse and rare etiologies. The deficiency of 17-beta-hydroxysteroid dehydrogenase type 3 enzyme (HSD17B3) is a rare autosomal recessive disorder due to functionally altered variants of the HSD17B3 gene. In this disorder/difference of sex development, the conversion of androstenedione into testosterone is impaired. The appearance of external genitalia of 46,XY individuals varies from typically male to almost female.Case presentationWe report on a child presenting severe ambiguous genitalia. Due to access constraints, specialized care did not start until the child was 10 months old. Parents are consanguineous and were born in an area of high isonymy that is a cluster for rare recessive diseases. A new homozygous missense variant c.785G > T was found in exon 10 of the HSD17B3 gene.ConclusionsResearchers-clinicians and researchers-researchers collaborative efforts to elucidate the genetic basis of this disease were critical since this etiologic investigation is not available through the public health system. This case exemplifies the families’ pilgrimage in cases of genital ambiguity due to a rare genetic condition. Recognizing the etiology was the baseline to provide information on prognosis and treatment options, and to shelter family and child doubts and hopes in order to better support their decisions.

Redo surgery improves sexual function in patients with sequelae of failed hypospadias repair

ABSTRACT Introduction Despite major improvements in management of congenital abnormalities of male external genitalia, non-pediatric urologists still encounter late complications of failed hypospadias repair. Such patients represent a complex group burdened with lower urinary tract symptoms, subfertility and sexual dysfunction. Psychological problems related to appearance of external genitalia are also common. It is currently unknown whether redo surgery improves sexual well-being in adults with sequelae of failed hypospadias repair. Objective To evaluate improvement in sexual function in patients with late complications of hypospadias repair. Methods We performed an analysis of symptoms related to sexual dysfunction in 112 patients with late complications of hypospadias repair who were admitted to our department for redo surgery. Average age of patients at admission was 32.1 years (min-max: 18-62). All patients consented to interview, completion of questionnaires, endocrine evaluation and penile doppler ultrasound when indicated. We compared prevalence of specific sexual symptoms before and after redo surgery using McNemar's test. Results Prevalence of erectile dysfunction following redo surgery decreased from 40.2% to 23.2% (p < 0.0001). Prevalence of low libido decreased from 59.8% to 30.3% (p < 0.0001). Asthenic ejaculation also became less frequent; initially it was present in 63.4% patients, and after surgery it was present only in 24.1% (p < 0.0001). Incidence of painful ejaculation decreased from 10.7% to 0.9% (p = 0.0026). Redo surgery didn't have positive or negative impact on premature ejaculation, delayed ejaculation, anejaculation and orgasmic dysfunction. Conclusion Redo surgery for complications of hypospadias repair seems to positively impact libido and erectile function, probably through improvement of body image and alleviation of psychogenic factors for erectile dysfunction. However, most ejaculation-related disorders, except asthenic ejaculation and painful ejaculation, remain unaffected. Disclosure Work supported by industry: no.

SUN-078 Clinical, Hormonal, Psychosexual Aspects, Gonadal Tumors and Genetic Background of an Androgen Insensitivity Syndrome Cohort

Introduction: Androgen Insensitivity Syndrome (AIS) is the most common cause of Differences of Sexual Development (DSD) in 46, XY individuals. It is a X-linked genetic disease caused by allelic variants in the Androgen Receptor Gene (Xq11-12), leading to 3 different phenotypes: Complete (CAIS), Partial (PAIS) or Mild (MAIS). Methods: Patients with clinical suspicion of AIS (familial history, atypical genitalia, primary amenorrhea and/or inguinal hernia) performed hormonal serum measurements (LH, FSH, estradiol, testosterone) and molecular sequencing of the ARgene, including all exonic regions (8 exons) and the 5’UTR region. Psychosexual variables (gender identity, gender role and sexual orientation) were evaluated through questionnaires. Gender identity was also evaluated through projective psychological test (HTP test). A histopathological study and immunostainining of CD240 and OCT3/4 were carried out for all individuals submitted to gonadectomy.Results: This cohort is made up of 64 individuals: CAIS (n=26) and PAIS (n=38), from 46 different families (24 PAIS; 22 CAIS). Inguinal hernia was the first clinical presentation in 35% of CAIS. Among the PAIS, 20 (52%) were assigned as female at birth, while 18 (48%) as male. Among In the group of PAIS, external genitalia virilization (Sinnecker score) influenced sex assignment (p<0.01). Final height and weight were similar between PAIS and CAIS. Furthermore, gender identity at adulthood, gender role at childhood and sexual orientation were in agreement with sex assignment in virtually all cases of both PAIS and CAIS. No gender change was observed. Molecular diagnosis was obtained in 96% of CAIS and in 87% of PAIS. There were 10 novel AR allelic variants (4 in CAIS - 2 small deletions, 1 missenseand 1 at splicing site and PAIS - 5 missenseand 2 synonymous variants (both causing a new exonic splicing site leading to a short AR protein). LH ranged from 9 to 48 UI/L (mean 19), testosterone from 190 to 1500 ng/dL (mean 438), without phenotype differences. Seminoma was identified in 2 out 24 (8%) individuals with CAIS (at 19 and 20 years of age). This rate was higher taking into account only those who underwent gonadectomy after puberty (16 years old or later: 2 out 17 (12%). Among PAIS there were 2 cases of NICG (at 3 and 19 years of age) and none of seminoma. Conclusion: Hormonal levels did not enable us to differ PAIS and CAIS. Inguinal hernia is a common clinical presentation of AIS. External genitalia appearance in PAIS influenced sex assignment. The psychosexual development in AIS usually complies with sex assignment. No gender change was observed. There is a risk of seminoma in CAIS, especially after puberty, which is not low enough to be ignored.

V09-09 THE RICHARD GRADY MONSPLASTY

INTRODUCTION AND OBJECTIVE: Classic bladder exstrophy in the female results in an exstrophic bladder and urethra, an anterior introitus with a bifid clitoris, and short labia minora. During closure, the lower abdominal wall is closed and the bifid clitori are brought into close apposition, but are often not completely closed to prevent injury to the clitoral bodies. The lower abdominal wall is often under tension, leading to gradual spreading of the distance between the clitoral bodies. We demonstrate a vertical z plasty closure to provide a 2-layer closure of the mons that decreases tension and improves cosmetic appearance of the female external genitalia by creating a clitoral hood. METHODS: This technique was developed as part of an international collaboration focused on the repair of bladder exstrophy and epispadias. After closure of the lower abdominal fascia, 2 lateral incisions are made just superior to the clitoral bodies. The inferior edges of these incisions are re-approximated in the midline in a subcuticular fashion with absorbable monofilament suture, thus forming the deep, posterior ledge of the skin closure. Next, the superior cut edges are re-approximated in a similar fashion, creating the superior/outer ledge of the mons. This closure is then extended and joined with the abdominal skin closure. RESULTS: This technique has been used as an adjunct in newborn primary closures and in older patients who present for cosmetic revision. The extension of the mons to create a clitoral hood eliminates the appearance of a protruding bifid clitoris. There have been no wound infections, skin breakdowns, or early clitoral separations. CONCLUSIONS: The vertical Z-plasty closure of the mons creates a more normal appearance of the external genitalia of girls with bladder exstrophy and epispadias by developing a clitoral hood, while also providing a robust, multi-layer closure that decreases tension and the risk of wound dehiscence. Source of Funding: None

PS-07-010 Psychological survey and medical form to establish objective evaluation criteria of outcome about phalloplasty in pediatric age

The problem of objective assessment about aesthetic/functional Results and psychological implication after male external genitalia reconstructive surgery is yet known in the literature. To establish objective evaluation criteria of outcome about De Castro’s neo-phalloplasty in children, we created a psychological survey submitted to patients/parents and a form with medical parameters evaluated from the surgeon Medical form is divided in subjective and objective parameters. Subjective (surgeons’, parents’ and patients’ estimations) parameters are: overall appearance of external genitalia, look of penis - scrotum - penile scars - abdominal scars and look/position of the umbilicus; scored as extremely-poor, poor, acceptable, good, excellent or better in a ranking from 0 to 10. Objective parameters are: Tanner scale, Faisal external and internal masculinization score, sex hormones attitude, length of the ventral and dorsal aspect of penis and difference between the two, penile diameter, location of the urethral ending, urinary continence/voiding, patient’s position during micturition, presence of penile erection – masturbation - erogenous areas - sexual intercourse – insertion of penile prosthesis. The survey evaluate patients and parents psychological/sexual aspects and quality of life post-phalloplasty. Tests used: Child Behaviour Checklist, Parenting Stress Index, Children Global Assessment Scale, Body Uneasiness Test, Revised Children’s Manifest Anxiety Scale, Beck Depression Inventory, Beck Anxiety Inventory, Multi-Attitude Suicide Tendency Scale, Gender Identity/Gender Dysphoria Questionnaire, Duss Tales, Utrecht Gender Dysphoria Scale, Body Image Scale, Recalled Childhood Gender Identity Scale

MON-245 Sexuality and Fertility Issues in 46,XY Disorders of Sex Development Individuals

: The sexuality of 46,XY DSD individuals can be affected by several factors as external genitalia appearance, negative body image, traumas, social stigma, and previous genital surgery. Previous studies has been reported an impaired sexual quality of life (SexQoL) in 46,XY DSD individuals in comparison with controls. To observe aspects regarding sexual life, 144 individuals with 46,XY DSD (100 female; 44 male) were enrolled in this study. All of them were adults (>16 years old) and had completed all surgical treatments. Sexual life and fertility issues were assessed using self-developed questionnaire with likert-scale questions. Sexual orientation was assessed on the basis of orientation, sexual behavior and sexual attraction. For comparison, the cohort was divided into 3 subgroups (A: gender at adulthood; B: genitalia appearance at birth; and C: male individuals at adulthood who were assigned as male versus who changed from female to male). About fertility issues, 12 individuals (8%) had children (7 male; 5 female). 10 out of 12 were adopted children and 2 patients had children by Intravaginal insemination (IVI). Desire of fertility was similar in women and men (78.3%, 80.7% respectively; p = NS). Fear of rejection due to infertility was reported by 28% (34 out of 117). More women than men considered infertility a barrier to a steady relationship (p=0.04). Regarding sexual orientation, more than 90% referred themselves as heterosexual. Homosexuality was reported by 4% in both genders. Most 46,XY DSD women reported androphilic sexual attraction and female sexual behavior (have sex with male partners), regardless of the appearance of external genitalia. The opposite (gynephilic sexual attraction and male sexual behavior) was observed in most male patients either in individuals who were assigned male at birth and in individuals who changed from female to male. Regarding sexual life, there was significant difference between males and females on sexual fantasies, masturbation practice and fixed sexual partner, which were more frequent in males. Nevertheless, both gender reported a similar sexual life satisfaction (76% and 80%). All sexual parameters were similar comparing individuals who changed from female to male and who were assigned as male. In conclusion, sexual life satisfaction was reported by the majority of adult patients with 46,XY DSD in both gender. Among female patients, the appearance of external genitalia did not influence on sexuality, once the surgical correction of atypical genitalia have been performed. In male individuals, the sexual life was similar either if they were assigned as male or changed for that gender later. Fertility desire was common among 46,XY DSD people, regardless of gender or 46,XY etiology, which should be taken into consideration in the 46,XY DSD management.

Molecular genetics and phenotype/genotype correlation of 5-α reductase deficiency in a highly consanguineous population.

5-α reductase deficiency is a rare 46,XY disorder of sex development. We present detailed phenotypic and genotypic features of a cohort of 24 subjects from a highly consanguineous population of Saudi Arabia SUBJECTS AND METHODS: We studied the clinical presentation and hormonal profiles of 24 subjects diagnosed with 5-α reductase deficiency and performed genetic testing on DNA isolated from their peripheral blood using polymerase chain reaction and direct sequencing of the SRD5A2. All subjects had 46,XY karyotype and presented with atypical appearance of external genitalia ranging from clitoromegaly, micophallus with hypospadias, undescended testes to completely normally looking female genitalia. Thirteen (54%) of them had severe under virilization and were assigned female sex at birth. The other 11 subjects were raised as males. Stimulated Testosterone:Dihydrotestosterone ratio was high in all 16 subjects in whom it was measured. The genetic testing revealed 2 nonsense mutations (p.R103X and p.R227X) in 2 unrelated subjects, 3 missense mutations (p.P181L, p.A228T, p.R246Q) in 11 subjects and a splice site mutation (IVS1-2A > G) in 11 other subjects. There was significant phenotypic variability even in subjects with the same mutation and also within the same family. This is the first and largest report of the clinical and molecular genetics of 5-α reductase deficiency from the Middle East. It shows weak genotype/phenotype correlation and significant phenotypic heterogeneity. IVS1-2A > G mutation is the most common mutation and is likely to be a founder mutation in this part of the world.

Feminizing genitoplasty in congenital adrenal hyperplasia: A new method for clitoral reduction

Background: Congenital adrenal hyperplasia (CAH) is a disorder wherein female babies are born with masculinized external genitalia characterized by hyperpigmented or fused labioscrotal tissue, a urogenital sinus, and clitoromegaly. Feminizing genitoplasty (clitoroplasty, labioplasty, and vaginoplasty) is necessary to make the patient consistent with gender identity and to ensure adequate sexual function in pubertal age. Patients and Method: We performed feminizing genitoplasty in which reduction clitoroplasty was done by a ventral approach in 6 patients of CAH, with a mean age of 3.8 years. Excessive erectile tissue was excised by giving incisions into Buck's fascia at 8 and 4 o'clock position on the clitoral shaft and Byar's flaps created from the degloved clitoral shaft were used for labial and vaginal reconstruction. The glans clitoris was left as such and anchored to proximal 1–1.5 cm clitoral shaft. Results: All patients had good cosmetic female appearance of external genitalia. In 5 patients, the clitoroplasty was done along with labioplasty and vaginal introitus exteriorization. However, in 1 patient, the vaginal confluence into urogenital sinus was high and hence only clitoral reduction as well as labioplasty was done and the urogenital sinus opening was left as such. The maximum follow-up is up to 6 years with good result. Conclusion: The reduction clitoroplasty by present approach of 8 and 4 o'clock incision into the Buck's fascia is a good option for clitoral girth and length reduction as it preserves approximately two-third of Buck's fascia with intact neuromuscular bundle and glans. Postoperatively, patients have good vascularity and sensation of the glans clitoris and acceptable cosmetic outcome. However, the long-term results are difficult to comment as no patient of the present study achieved puberty.

The long-term outcomes after staged repair of exstrophy-epispadias complex.

Introduction:Classic bladder exstrophy (BE) is a rare malformation of the genito-urinary tract affecting 1:50,000 to 1:100,000 live births. The surgical reconstruction of the BE-epispadias complex is challenging for the most experienced pediatric urologists, surgeons, and orthopedists.Purpose:To assess the success of staged reconstruction of the BE and long-term effects on the upper urinary tract, renal function, and continence.Materials and Methods:This is retrospective study; between 1994 and 2013, 30 patients with BE have undergone stage 1 repair at the institute. Eighteen male patients have been operated for epispadias repair and thirteen patients have undergone Guy Leadbetter bladder neck reconstruction. Three patients required augmentation cystoplasty one child is continent after epispadias repair only and one child attained continence after single-stage repair.Results:Hence, out of 17 patients, 14 are socially continent, four patients require clean intermittent self-catheterization for bladder emptying. Four patients, who are coming for regular follow-up, are awaiting continence procedure. Two patients who underwent augmentation cystoplasty are on hemodialysis for renal failure and one child has altered renal function.Conclusion:In our experience, the modern staged repair offers a low risk of renal scarring with acceptable continence opportunity with acceptable cosmetic appearance of external genitalia in the males and females.

Laparoscopic Assisted Orchidectomy Eases Future Insertion of Testicular Prosthesis in Paediatric Patients

High ligation orchidectomy in paediatric patients is performed for testicular tumours. This is carried out via open surgery at the inguinal or groin region. In these boys, elective insertion of testicular prostheses is carried out later to improve the external genitalia appearance. In most cases, insertion of testicular prosthesis or implant is carried out via the previous scar, to avoid prosthesis extrusion; however this is usually difficult due to scarring and may cause haematoma and possible infection. We report a novel technique of laparoscopic assisted orchidectomy in an adolescent boy with disorder of sexual development (DSD) whom was suspected of having bilateral gonadal (testicular) malignant change, he successfully underwent bilateral ligation of testicular vessels laparoscopically and removal of both testes via a midline scrotal raphe incision; hence avoiding bilateral groin incisions. With this method, future insertion of testicular prostheses can be carried out via virgin inguinal incisions.

Cancer of the vulva in a 28-year-old woman

Prevalence of vulvar cancer in women under 30 years of age is very low. Human papillomavirus DNA is found in 20%–60% of women with invasive vulvar cancer and in 70%–80% of patients with vulvar neoplasia. In a young woman treated for recurrent, extensive vulvar condyloma acuminate, squamous cell carcinoma of the vulva was found. The aim of this work is to demonstrate that cancer of the vulva may occur in young women. It demonstrates the need for particular diligence in the diagnosis and treatment of vulvar diseases and building a good relationship with the patient in order to minimize the fear of invasive treatment and encourage compliance. The patient, a 28-year-old female, after surgical treatment of condyloma acuminata, was admitted with a 3 cm tumor of the vulva. The tumor was excised with a margin of tissue free from infiltration – keratinizing squamous cell carcinoma was diagnosed. The patient did not return for extension surgery. After 5 years she was admitted with 4 cm loco-regional recurrence. Radical resection of the vulva with bilateral inguinal lymphadenectomy was performed. Four lymph node metastases were found. Adjuvant radiotherapy was implemented. Observation time was 4 years after the surgery for recurrence and 10 years after first diagnosis of cancer. Vulvar lesions cause anxiety in women, associated with sexual activity and the appearance of external genitalia after surgical treatment. Doubts of both the physician and the patient, particularly young, associated with invasive diagnostic methods result in prolonged ineffective conservative treatment. In the presented case wide local excision of the tumor proved ineffective. Local recurrence metastasized to lymph nodes bilaterally and contralaterally. Treatment results of vulvar cancer are frequently dependent on patients' willingness to comply and minimizing the fear of consequences of the treatment. Women with oncological conditions of the vulva should be diagnosed and treated in specialized centers.

602 REDO HYPOSPADIAS REPAIR–SURGICAL PROBLEMS FACED IN 223 ADULT PATIENTS

You have accessJournal of UrologyPenis/Testis/Urethra: Benign & Malignant Disease1 Apr 2011602 REDO HYPOSPADIAS REPAIR–SURGICAL PROBLEMS FACED IN 223 ADULT PATIENTS Rados Djinovic, Guido Barnagli, Salvatore Sansalone, Giusepe Romano, Sasa Tomovic, and Nikola Stanojevic Rados DjinovicRados Djinovic Belgrade, Yugoslavia More articles by this author , Guido BarnagliGuido Barnagli Arezzo, Italy More articles by this author , Salvatore SansaloneSalvatore Sansalone Rome, Italy More articles by this author , Giusepe RomanoGiusepe Romano Arezzo, Italy More articles by this author , Sasa TomovicSasa Tomovic Belgrade, Yugoslavia More articles by this author , and Nikola StanojevicNikola Stanojevic Belgrade, Yugoslavia More articles by this author View All Author Informationhttps://doi.org/10.1016/j.juro.2011.02.1434AboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookTwitterLinked InEmail INTRODUCTION AND OBJECTIVES Failed hypospadias repair present difficult problem with growing number of adult patients needing surgical treatment. Treatment is often challenging because majority had multiple previous surgeries with lack of quality tissue for repair. We present our experience and principles of treatment in 223 patients. METHODS Between January 2003 and December 2008, 223 patients aged between 18 and 59 years (mean 28) were treated for complications of previously failed hypospadias repair: urethral stricture–168, followed by short penile skin–55, residual ventral curvature–53, urethral fistula–34, peno-scrotal transposition–17, urethral diverticulum in 12. Unsatisfactory esthetic appearance of external genitalia was in 143 patients. Majority of patients had several complications and treatment was individual according to the finding. One or two-stage buccal mucosa inlay was the mainstay of stricture management–131 patients. In remaining 37 local penile skin/praeputial flaps were used. Curvature repair was done by tunical attenuation -modified Nesbit procedure. In patients with excessive chordee three-stage repair was used with ventral grafting in the first stage and 2-stage buccal mucosa urethropalsty in the next two. Diverticulum was treated by tapering and placation of surrounding tissue. Scrotal skin flaps were used for reconstruction of missing penile skin with correction of peno-scrotal transposition when present. RESULTS The mean follow−up was 54 months (23−94). Successful repair was achieved in 209 patients. 7 patients developed postoperative fistula and 6 of them were treated successfully by additional surgery and in one fistula closed spontaneously. Urethral stricture developed in 4 patients who were treated surgically. 2 patients had small residual curvature that didn't require additional repair. One patient remained with subcoronal hypospadias dut to previous glans injury. CONCLUSIONS Successful surgical treatment of failed hypospadias requires appropriate estimation of all remaining deformities i.e.: urethra, cavernosal bodies, glans and penile skin as well as their treatment using individual approach. © 2011 by American Urological Association Education and Research, Inc.FiguresReferencesRelatedDetails Volume 185Issue 4SApril 2011Page: e242-e243 Advertisement Copyright & Permissions© 2011 by American Urological Association Education and Research, Inc.MetricsAuthor Information Rados Djinovic Belgrade, Yugoslavia More articles by this author Guido Barnagli Arezzo, Italy More articles by this author Salvatore Sansalone Rome, Italy More articles by this author Giusepe Romano Arezzo, Italy More articles by this author Sasa Tomovic Belgrade, Yugoslavia More articles by this author Nikola Stanojevic Belgrade, Yugoslavia More articles by this author Expand All Advertisement Advertisement PDF downloadLoading ...

550 SHOULD PROXIMAL HYPOSPADIAS WITH BILATERALLY DESCENDED GONADS BE CONSIDERED A DISORDER OF SEX DEVELOPMENT (DSD)?

You have accessJournal of UrologyPediatrics: Congenital Anomalies - Lower Urinary Tract & Genitalia1 Apr 2011550 SHOULD PROXIMAL HYPOSPADIAS WITH BILATERALLY DESCENDED GONADS BE CONSIDERED A DISORDER OF SEX DEVELOPMENT (DSD)? Rodrigo L.P. Romao, Darius J. Bagli, Armando J. Lorenzo, Walid A. Farhat, Bruno Leslie, Victor Figueroa, David Chitayat, Diane Wherrett, and Joao L. Pippi Salle Rodrigo L.P. RomaoRodrigo L.P. Romao Toronto, Canada More articles by this author , Darius J. BagliDarius J. Bagli Toronto, Canada More articles by this author , Armando J. LorenzoArmando J. Lorenzo Toronto, Canada More articles by this author , Walid A. FarhatWalid A. Farhat Toronto, Canada More articles by this author , Bruno LeslieBruno Leslie Toronto, Canada More articles by this author , Victor FigueroaVictor Figueroa Toronto, Canada More articles by this author , David ChitayatDavid Chitayat Toronto, Canada More articles by this author , Diane WherrettDiane Wherrett Toronto, Canada More articles by this author , and Joao L. Pippi SalleJoao L. Pippi Salle Toronto, Canada More articles by this author View All Author Informationhttps://doi.org/10.1016/j.juro.2011.02.1275AboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookTwitterLinked InEmail INTRODUCTION AND OBJECTIVES In 2006, the Chicago consensus on disorders of sex development proposed a new nomenclature that has been widely adopted for disorders previously referred to as “intersex”. The consensus included isolated perineal hypospadias (regardless of cryptorchidism) as one of the situations in clinical practice that would warrant a full workup for DSD (karyoptype, imaging studies, and hormone profiles). Our objective was to look at the impact of having a DSD workup on diagnosis, management or gender assignment for patients seen for isolated proximal hypospadias and bilateral fully descended gonads. METHODS Retrospective analysis of a single institution database containing 125 patients followed by a multidisciplinary DSD clinic. Inclusion criteria were: proximal hypospadias (defined as perineal or scrotal with bifid scrotum) and bilateral descended gonads (defined as 2 gonads palpable in a scrotal /topical position). Data collected included: karyotype, external genitalia appearance, presence of mullerian structures on abdominal ultrasound, gender assignment, final diagnosis and surgical treatment. RESULTS Undervirilization of the external genitalia was the referral diagnosis in 45 patients (45/125-36%). Of those, 17 (38%) met inclusion criteria. Two patients also had micropenis. Time of referral was before 1 year of age for all patients. Average stretched penile length was 2.2 ± 0.57 cm. Penoscrotal transposition was present in 6 (35%) patients. Karyotype was 46 XY in all of them. Abdominal ultrasound performed in 14 patients failed to show any mullerian structures in the pelvis. Laboratory profile was consistent with partial androgen insensitivity syndrome (PAIS) in all but one patient, who was diagnosed with salt-wasting congenital adrenal hyperplasia (CAH). Surgical treatment consisted of only hypospadias repair with correction of penoscrotal transposition when indicated for the entire study population. CONCLUSIONS Based on our data, isolated proximal hypospadias with bilateral descended gonads might not warrant a full workup for DSD. In the study population, all patients had a normal male karyotype and no mullerian structures were identified. Gender assignment was uniformly male and surgical management was not affected by diagnostic tests. Refining the indications for DSD workup could potentially avoid the stress and stigma imposed to patients and families by the label of “ambiguous genitalia”. © 2011 by American Urological Association Education and Research, Inc.FiguresReferencesRelatedDetails Volume 185Issue 4SApril 2011Page: e223 Advertisement Copyright & Permissions© 2011 by American Urological Association Education and Research, Inc.MetricsAuthor Information Rodrigo L.P. Romao Toronto, Canada More articles by this author Darius J. Bagli Toronto, Canada More articles by this author Armando J. Lorenzo Toronto, Canada More articles by this author Walid A. Farhat Toronto, Canada More articles by this author Bruno Leslie Toronto, Canada More articles by this author Victor Figueroa Toronto, Canada More articles by this author David Chitayat Toronto, Canada More articles by this author Diane Wherrett Toronto, Canada More articles by this author Joao L. Pippi Salle Toronto, Canada More articles by this author Expand All Advertisement Advertisement PDF downloadLoading ...

Failed Hypospadias Repair – Retrospective Analysis in 223 Patients

Purpose Failed Hypospadias repair present difficult problem with growing number of patients needing surgical treatment which is often challenging because majority had multiple previous surgeries with lack of quality tissue for repair. Material and Methods Between January 2003 and December 2008, 223 patients aged between 18 and 59 years (mean 28) were treated for complications of previously failed Hypospadias repair: urethral stricture 168, short penile skin 55, residual ventral curvature 53, urethral fistula 34, peno-scrotal transposition 17 and urethral diverticulum in 12. Unsatisfactory esthetic appearance of external genitalia was in 143 patients. Majority of patients had several complications and treatment was individual according to the finding. One or two-stage buccal mucosa inlay was the mainstay of stricture management – 131 patients. In remaining 37 local penile skin/praeputial flaps were used. Curvature repair was done by tunical attenuation -modified Nesbit procedure. In patients with excessive chordee three-stage repair was used with ventral grafting in the first stage and 2-stage buccal mucosa urethropalsty in the next two. Diverticulum was treated by tapering and placation of surrounding tissue. Scrotal skin flaps were used for reconstruction of missing penile skin with correction of peno-scrotal transposition when present. Results The mean follow−up was 41 months (9−80). Successful repair was achieved in 209 patients. 7 patients developed postoperative fistula and 6 of them were treated successfully by additional surgery and in one fistula closed spontaneously. Urethral stricture developed in 4 patients who were treated surgically. 2 patients had small residual curvature that didn't require additional repair. One patient remained with subcoronal Hypospadias dut to previous glans injury. Conclusions Successful surgical treatment of failed Hypospadias requires appropriate estimation of all remaining deformities i.e.: urethra, cavernosal bodies, glans and penile skin as well as their treatment using individual approach.

Congenital adrenal hyperplasia: Results of medical therapy on appearance of external genitalia

Girls with congenital adrenal hyperplasia show a variable degree of genital masculinization at birth. Antenatal dexamethazone treatment for the mother is known to reduce the severity of this condition. There are however few data on the effect of postnatal steroid therapy on the cosmetic appearance of the external genitalia. We report the appearance of the external genitalia of three girls with classical congenital adrenal hyperplasia followed up by steroid therapy alone. Growth of the labia majora and a relative reduction in clitoral size improved the appearance of the external genitalia in these three girls. There seems to be improvement in the external appearance of genitalia with postnatal steroid therapy. This could allay parental concerns and help in the planning of corrective surgery peripubertally with the informed consent of the child.

A modified approach for feminizing genitoplasty

We reported the use of the mucosal layer of preputial skin to give extra length to penile flaps on vaginal introitus and labia minora reconstruction in children with congenital adrenal hyperplasia. Since November 1999, 14 patients (average age 16 months, range 6 months-4 years) have undergone early one-stage reconstruction of external genitalia. All patients were classified according to Prader's classification (from III to V degree) with clitoral size of 3 +/- 1.5 cm. The perineal sagittal approach is followed by careful dissection and partial mobilisation of the urogenital sinus. Subcutaneous reduction clitoroplasty has been performed. The mucosal layer of the prepuce, developed as an extended flap on the end of the phallic shaft skin used for labia minora, is ideally placed for reconstruction of the vestibulae and distal vagina. The vagina was calibrated, the main vaginal calibre was 10 Hegar (range 6-14). With one exception, the urethral meatus was situated in the vestibulae and easily accessible. One distal vaginal stenosis was observed in a case with high confluence. No urinary incontinence was noted. The appearance of external genitalia was very satisfactory. The described genitoplasty provides a good cosmetic appearance. As most of our patients have not yet reached the age of sexual activity and child bearing, the functional results of this operation will need longer-term evaluation.