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Complete duplication of the bladder, urethra and external genitalia in a neonate--a case report.

We report a rare case of complete duplication of the bladder, urethra and external genitalia associated with other multiple congenital anomalies, such as ventriculoseptal defect, malrotation of the gut, ectopic anal opening, malascended left kidney, rachischisis of the lumbar spine and sacrum, and an umbilical hernia. To our knowledge the occurrence of these associated anomalies in a single case of complete duplication of the bladder, urethra and external genitalia has not been reported previously.

Abnormalities, Multiple↗

True hermaphroditism and normal male genitalia: an unusual presentation.

True hermaphroditism, the rarest form of intersex, is usually diagnosed during the newborn period in the course of evaluating ambiguous genitalia. As an exception, we present an unusual case of a 15-year-old boy with phenotypically normal male genitalia and bilaterally descended ovotestes, who was seen for evaluation of intermittent scrotal swelling and pain. Although rare, true hermaphroditism should be included in the differential diagnosis of apparently normal males presenting with similar complaints.

Adolescent↗

The effect of clitoral surgery on sexual outcome in individuals who have intersex conditions with ambiguous genitalia: a cross-sectional study.

BACKGROUND: The effects on sexual function of surgical removal of parts of the clitoris are unknown. For infants with intersex conditions and ambiguous genitalia being raised female, this surgery is often undertaken in early childhood. Our aim was to assess the effects of surgery on sexual outcome in this population. METHOD: We did a cross-sectional study to which we recruited 39 adults who had intersex conditions with ambiguous genitalia who were living as female from clinical (n=15) and peer-support (n=24) settings. We obtained data by use of a postal questionnaire, incorporating a validated sexual function assessment inventory. We also obtained hospital notes of 36 respondents who did not want to remain anonymous, and did genital examinations of 19 women. We assessed sexual problems in relation to surgical history and compared the results for our population to those of a healthy control group. FINDINGS: Of the 39 individuals enrolled, 28 had been sexually active and all had sexual difficulties. The 18 women who had undergone clitoral surgery had higher rates of non-sensuality (78%) and of inability to achieve orgasm (39%) than did the ten who had not had surgery (20% [p=0.002] and 0% [p=0.03], respectively). INTERPRETATION: Sexual function could be compromised by clitoral surgery. Debate on the ethics of the use of this surgery in children should be promoted and further multicentre research is needed to ensure representative samples and comprehensive outcome assessment. Meanwhile, parents and patients who consent to clitoral surgery should be fully informed of the potential risks to sexual function.

Adolescent↗

Combination of physiological and anatomical methods for studying extraocular photoreceptors on the genitalia of the butterfly, Papilio xuthus.

This paper describes a combination of electrophysiological and anatomical techniques useful for characterizing sensory neurons in insects in our studies on the extraocular photoreceptors on the genitalia of the butterfly, Papilio xuthus. Genital photoreceptors were first electrophysiologically identified by recording photoreceptor spikes in response to light stimulation of the genitalia. The precise location and ultrastructure of these photoreceptors were then studied by light and electron microscopy. Both electrophysiological and anatomical techniques employed here were rather classical, but, as shown in this paper, they appear to be particularly useful for systems where intracellular penetration is difficult.

Animals↗

Neonatal disorders of the external genitalia and vagina.

Abnormalities of the external genitalia and vagina range from simple lesions to very complex anomalies of the genitourinary and gastrointestinal systems. The author describes the most common disorders of the external genitalia and vagina in the neonate, and current management strategies.

Cloaca↗

Male-female conflict and genitalia: failure to confirm predictions in insects and spiders.

Some recent models suggest a new role for evolutionary arms races between males and females in sexual selection. Female resistance to males is proposed to be driven by the direct advantage to the female of avoiding male-imposed reductions in the number of offspring she can produce, rather than by the indirect advantage of selecting among possible sires for her offspring, as in some traditional models of sexual selection by female choice. This article uses the massive but hitherto under-utilized taxonomic literature on genitalic evolution to test, in a two-step process, whether such new models of arms races between males and females have been responsible for rapid divergent evolution of male genitalia. The test revolves around the prediction that 'new arms races' are less likely to occur in species in which females are largely or completely protected from unwanted sexual attentions from males (e.g. species which mate in leks or in male swarms, in which males attract females from a distance, or in which females initiate contact by attracting males from a distance). The multiple possible mechanical functions of male genitalia are summarized, and functions of male genitalic structures in 43 species in 21 families of Diptera are compiled. Functions associated with intromission and insemination (e.g. seizing and positioning the female appropriately, pushing past possible barriers within the female, orienting within the female to achieve sperm transfer), which are unlikely to be involved in new arms races when females are protected, are shown to be common (> 50 % of documented cases). This information is then used to generate the new arms race prediction: differences in genitalic form among congeneric species in which females are protected should be less common than differences among congeneric species in which females are vulnerable to harassment by males. This prediction was tested using a sample of 361 genera of insects and spiders. The prediction clearly failed, even when the data were adjusted to take into account several possible biases. Comparative analyses within particular taxonomic groups also failed to show the predicted trends, as did less extensive data on other non-genitalic male display traits. Arms races, as defined in some recent models, seem to have been less important in male-female coevolution of genitalic structures than has been suggested. By elimination, alternative interpretations, such as traditional female choice, which do not predict associations between female protection from harassment and rapid divergent evolution, are strengthened.

Animals↗

Starting from fins: parallelism in the evolution of limbs and genitalia. The fin-to-limb transition.

The March/April 2002 issue of Evolution and Development focused on three presentations made at the Starting from Fins: Parallelism in the Evolution of Limbs and Genitalia symposium held as part of the 2001 Chicago meeting of the Society of Integrative and Comparative Biology. The intention of the symposium and the publication of the presentations was to extend discussion of the potential and the limits of using serial homologues to understand developmental aspects of morphological evolution. The March/April 2002 issue concentrated on unpaired fin to genitalia transitions. This issue focuses on paired fins to limbs and highlights the need for developmental data to be integrated with data from fossil materal, phylogenetic analysis, and explicitly comparative studies. Coates et al. use phylogenetic methods to explore the limb/fin characters of taxa, but their analysis departs somewhat from the usual in that the reference group for organisms includes sister group taxa not usually considered true tetrapods. They state that including finned taxa from the stem group permits an attempt to distinguish the primitive condition of the characteristics demonstrated by the crown group, that is, "limbed tetrapods." In focusing on limb characters specifically and including aspects of the appendicular girdles, Coates et al. highlight morphological details and trends within a given phylogeny. They also demonstrate the degree of relevance of limb characters during the establishment of lineages and their branching patterns by using only limb characters to generate a tree and use a direct comparison of serial versus special homologies to explore the degree of evolutionary parallelism between fore-and hindlimbs. The preliminary conclusions indicate a high level of independence between the serially homologous fore-and hindlimb. Innes et al. present outcomes from the use of cutting edge molecular genetic approaches to understand developmental aspects of limb morphology. In a manner conceptually similar to Coates et al.'s use of fossil characters, Innes et al. use the serial analysis of gene expression to sort differences from similarities in the gene expression profiles of fore-and hindlimbs of the same embryos. Although these gene expression pattems are likely to reflect the serial homology of the paired limbs, they are silent in terms of our understanding both the profound and subtle differences between fore- and hindlimbs in any given species. Innes et al. point out the volume of data generated by SAGE far exceeds our ability to interpret its biological meaning. The studies presented here and in the March/April issue are excellent examples of the need to interpret complex data in light of collective knowledge of evolutionary history. We hope the insights gained from the symposium and papers contribute to a dialogue on how to integrate different approaches and assist in moving forward the field of Evolution and Development.

Animals↗

Feminizing genital reconstruction: experience with 52 cases of ambiguous genitalia.

AIM: The last decade witnessed the introduction of different modifications and even new techniques for feminizing genitoplasty. The claim was that the classical Hendren's procedure was associated with unsatisfactory results. At the King Khalid University Hospital, the Hendren's operation was the procedure of choice for feminizing genitoplasty. In this report, we describe our experience with a total of fifty-two cases of ambiguous genitalia. We understand that this comes in the midst of growing criticism of the Hendren's procedure. MATERIALS AND METHODS: The medical records of 52 consecutive patients with ambiguous genitalia who underwent feminizing genital reconstruction were reviewed. Forty-five patients (86.5%) had congenital adrenal hyperplasia (CAH), 3 patients had testicular feminization syndrome, 2 patients had mixed gonadal dysgenesis, one patient had vaginal atresia with Kaufman's syndrome and one patient had isolated congenital clitoromegaly. Age at first presentation ranged between 1 day to 15 years. Feminizing genital reconstruction using Hendren's technique was carried out as a single stage procedure in 29 (55.81%) patients and as staged surgery in 23 (44.2%) patients. A total of 50 clitoral operations and 43 vaginoplasties were performed. Follow-up ranged from 6 months to 12 years (mean 3 and 1/2 years). The surgical results were analyzed and complications documented. RESULTS: Reconstruction was completed in 47 (90.2%) patients. Thirty-six (78.2%) patients had a satisfactory genital appearance with normal looking clitoris. Seven patients required revision clitoroplasty. Thirty-six (83.7%) patients had a good size vagina appropriate for age. Seven patients (16.2%) had vaginal stenosis and two had revision vaginoplasty with good results. Postoperative complications included urethral fistula (one patient), meatal stenosis (one patient), and transient neurogenic bladder (one patient). The final cosmetic results were considered excellent in 40 (85.1%), fair in 4 patients, and poor in 3 patients. CONCLUSION: The Hendren's techniques of flap vaginoplasty for low confluence and vaginal pull-through for high confluence offer satisfactory cosmetic and functional results. Long-term follow-up is necessary to ensure social and psychosexual adjustment.

Adolescent↗

Ambiguous genitalia as a psychosocial emergency.

The anxiety of the parents of children born with ambiguous genitalia is described and the detrimental effect this has on the psychosocial development of these children. The importance is stressed of proper counselling for the parents. A multi-disciplinary approach benefits the parents as well as the child. Referral to a specialized centre immediately upon birth is essential to prevent a delay in conclusive sex assignment and to ensure early and expert surgical correction, proper endocrinological therapy and psychiatric counselling. Ten commandments are given for the psychosocial management of children with ambiguous genitalia.

Adaptation, Psychological↗

Ambiguous genitalia, gender-identity problems, and sex reassignment.

This article discusses general issues with regard to gender-identity problems, sex reassignment, and clinical management in patients with ambiguous genitalia, based on a detailed case history of a patient with penile agenesis who has been followed more than 20 years. After initial uncertainty, the patient began to grow up as a boy, lived from the fourth year of life as a girl and young woman, and lived from late puberty on as a man. Over his lifetime he experienced extensive corrective surgery plus hormonal substitution therapy. Pre- and perinatal hormonal conditions, phenomenology of the genitalia, sex of rearing, timing of sex reassignment and corrective surgery, for example, appear to be important components for the development of gender-role behavior, gender identity, and sexual orientation of intersex patients. Findings and retrospective considerations for this patient suggest the need for careful differential activities in diagnostic workup, approaches to sex assignment and possible reassignment, and the clinical management of patients and families.

Adaptation, Psychological↗

Ambiguous genitalia: medical, socio-cultural and religious factors affecting management in Saudi Arabia.

Twenty-eight children with ambiguous genitalia were seen at King Khalid University Hospital over a 6-year period. The incidence of this disorder was 0.4/1000 live births. Of the total, 21 (75%) were Saudis and seven (25%) were non-Saudis. The consanguinity rate was 67.9%. Twenty-four (85.7%) were born in hospital and four (14.3%) at home. In only three (10.7%) was the news first broken to the parents by a senior doctor, in 13 (46.4%) by a junior doctor, and in 11 (39.3%) by a nurse. Ambiguous genitalia were observed in 22 (78.6%) at birth and in six (21.4%) were picked up later. Owing to a lack of immediate investigative facilities and for some socio-cultural reasons, 19 of the latter groups were assigned sex without prior investigations. There was an obvious preference to assign male sex. On investigation, 13 (46.4%) had XX chromosomes, 11 (39%) XY and one (3.6%) XO: in three (10.7%), chromosomal results were not available. There were 14 cases (50%) of congenital adrenal hyperplasia, two of 5-alpha reductase deficiency (7.1%), and five of testicular feminization syndrome (17.9%), in addition to others. After investigation, five (17.9%) of the children needed sex reassignment. This was accepted by two and rejected for socio-cultural reasons by three. The opinion of the religious leaders was obtained. Some recommendations on management of these cases are made, based on our local experience.

Disorders of Sex Development↗

Prenatal sexing and sex determination in infants with ambiguous genitalia by polymerase chain reaction.

Sex determination in both fetuses and infants with ambiguous external genitalia usually necessitates time-consuming and costly karyotyping. We propose a simple, rapid, and reliable method of prenatal and postnatal sex determination by means of the PCR, a technique currently used to identify gender for forensic purposes. DNA was extracted from 20 samples of whole blood from infants with ambiguous genitalia and from five samples of amniotic fluid. Three markers were amplified from each specimen: a Y chromosome alphoid repeat sequence and two homologous genes, amelogenin (AME) and zinc finger protein (ZFP). All three were detected in under 10 hr. A comparison of the results obtained with those of cytogenetic analysis of the same samples showed a perfect sex match, demonstrating that this PCR technique provides an accurate means of determining gender.

Amelogenin↗

The child with ambiguous genitalia: a neonatal surgical emergency.

Although many birth defects pose a real threat to life if left uncorrected, the problem of ambiguous genitalia, if poorly or incorrectly handled, leads to a lifetime of unhappiness for both parent and child. The evaluation of these defects must be attended to with the same dispatch as any life threatening anomaly. A total of 18 children with ambiguous genitalia have been evaluated and treated in the past two years including nine females with virilizing adreno-genital syndrome, three infants with mixed gonadal dysgenesis, two infants with dysgenetic male pseudohermaphroditism, two males with severe perineal hypospadias, bifid scrotum, and undescended testicles, and two females with cloacal deformities. Precise diagnosis and most importantly proper gender assignments were made in 11 neonates by cytogenetic, biochemical, and miniaturized endoscopic techniques. Subsequent surgical reconstruction is governed by existing anatomy, not genetic sex, and has been completed in six children two to two and half years of age. Most are reconstructed as females with recession of the enlarged clitoris and vaginoplasty. Males with hypospadias are handled by standard techniques. Seven previously evaluated patients had been lost to follow-up for up to 13 years and were recently reconstructed. Surgical treatment in five older children with extreme virilization and moderate to severe gender confusion was technically successful but associated with pronounced emotional difficulties. Worse than delay in gender assignment, is making the wrong gender assignment, or failing to follow through with the original plan at an early age. Sample cases from each of these categories are presented in detail to illustrate the innovations in the diagnostic and therapeituc management of these children.

Adolescent↗

Gunshot wounds to the male genitalia.

Fifty consecutive cases of gunshot wounds to the male external genitalia were treated by the Tulane University Urology Service at the Medical Center of Louisiana in New Orleans. Fifty percent of the patients had significant associated injuries. Eight anterior urethral injuries were identified, all by retrograde urethrography. Five of 17 testicular injuries were salvaged with conservative operative technique. Review of this series suggests that good functional integrity of the male genitalia after gunshot injury can be maintained by following a strict diagnostic and therapeutic regimen.

Adolescent↗

External genitalia gunshot wounds: a ten-year experience with fifty-six cases.

OBJECTIVE: To determine the appropriate methods for the diagnosis and management of gunshot injuries to the external genitalia. DESIGN: Retrospective analysis. MATERIALS AND METHODS: Fifty-six patients with gunshot wounds (GSWs) to the external genitalia were seen over the last 10 years. All patients underwent physical examination, radiographic staging, and surgical exploration, according to protocol. RESULTS: There were 25 testicular, 19 scrotal soft tissue, 14 penile, 4 epididymal, 4 urethral, 4 vasal, and 3 superficial scrotal skin injuries. When possible, all injuries, except for the vasal and 1 urethral injury, were primarily repaired with excellent long-term results. Orchiectomy was required in half of testes struck by gunshots. Associated injuries with single GSWs were mostly to the proximity soft tissue and were amenable to conservative management. Major associated injuries were present in patients with multiple GSWs. In the absence of a suspected major associated injury, genital GSWs required only two diagnostic studies, a retrograde urethrogram for suspected urethral injury and a routine abdominal radiograph. Gunshot injuries to the penis or perineum, blood at the penile meatus, or gross hematuria were highly suggestive of urethral injury. CONCLUSIONS: Successful management of genital GSWs is dependent upon prompt surgical exploration, conservative debridement, and primary repair.

Adolescent↗

Construction of male genitalia in the transsexual, using a tubed groin flap for the penis and a hydraulic inflation device.

A technique for construction of external male genitalia in a transsexual patient is presented in detail. The McGregor groin flap is used for penile construction, and the Scott inflatable prosthesis is used to produce an erection. The shape of the penis is improved by secondary local excisions, and the clitoris is bivalved and inserted at the base of the penis to allow sexual sensation. The appearance and the function of the constructed genitalia have been deemed quite satisfactory by this transsexual patient.

Adult↗

Management of trauma to the male external genitalia: the usefulness of American Association for the Surgery of Trauma organ injury scales.

PURPOSE: Injury to the male external genitalia is rare and, therefore, there are little data in the literature regarding the options for nonoperative management and outcome. To assist in defining the indications for nonoperative management the usefulness of the American Association for the Surgery of Trauma (AAST) organ injury scales for these injuries was examined. MATERIALS AND METHODS: We retrospectively reviewed the medical records of 116 male patients with trauma to the external genitalia in a 10-year period and classified injuries according to the organ injury severity scales (scrotum, testis, penis and urethra) of the AAST. Based on AAST grading management and outcome was reviewed. RESULTS: Mean patient age was 28 years and 79% of the injuries were due to gunshot wounds. A total of 87 patients (75%) underwent surgery, while 27 penile injuries and 8 scrotal/testicular injuries were managed nonoperatively. There were 54 scrotal explorations, 33 testicular injuries and 20 orchiectomies (bilateral in 1) for a testicular salvage rate of 39%. Documented followup by the trauma or genitourinary service was achieved in 47 of 110 survivors. No patient reported impotence or difficulty with fertility. CONCLUSIONS: The AAST grading for male external genital trauma readily characterizes patients with high grade injuries that require operative management as well as select patients in whom injury can be safely managed nonoperatively.

Adolescent↗

Detection of human papillomavirus DNA on the external genitalia of healthy men and male patients with urethritis.

BACKGROUND: Only a few studies have been done involving detection of human papillomavirus (HPV) DNA on the external genitalia of men without genital warts, although many have been done for women. We conducted HPV DNA detection among healthy male volunteers and men with urethritis, both having no visible lesions on their external genitalia. GOAL: The goal of the study was to determine the detection rate of HPV DNA in volunteers and patients with urethritis and to determine risk factor(s) for positive DNA. STUDY DESIGN: This was a prospective clinical study. RESULTS: HPV DNA was found in 1.3% of 75 volunteers and in 18.5% of 130 patients with urethritis. DNA of a high-intermediate oncogenic risk was more predominant than the low-risk type. Among various risk factors, only a history of STD was a significant factor for the positive detection of HPV DNA in multiple regression analysis. CONCLUSION: HPV DNA was found in patients with urethritis more frequently than in volunteers, probably because the former had higher sexual activity.

Adolescent↗