Congenital Genitourinary Anomalies and Sexual Function

REVIEW Congenital genitourinary anomalies and sexual function

I Taran, DM Hartke and JS Palmer

Division of Pediatric Urology, Rainbow Babies and Children’s Hospital, Case Western Reserve University School of Medicine, Cleveland, OH, USA

Congenital urologic abnormalities in males may contribute to sexual dysfunction seen in young men. It is the purpose of this paper to review some of the more common congenital urologic anomalies and their impact on sexual and reproductive function. International Journal of Impotence Research (2007) 19, 115–118. doi:10.1038/sj.ijir.3901482; published online 25 May 2006

Keywords: sex; penis; genitals; congenital anomalies; pediatrics

Introduction whereas the remaining patients will require treatment.4 In Europe, these patients are often treated The National Health and Social Life Study, a major using hormonal therapy with chorionic gonadotro- prevalence study of sexual dysfunction in the US, pin hormone, gonadotropin-releasing hormone or estimated the incidence of male sexual dysfunction LH-releasing hormone. However, hormonal therapy among men aged 18–59 years to be at 31%.1 is less than 20% effective; thus, surgical orchiopexy Congenital urological abnormalities contribute to is the gold standard treatment.3 this rate of sexual dysfunction in this country. Patients with cryptorchidism, particularly those Common congenital conditions such as cryptorchid- with bilateral disease, are at an increased risk of ism, myelodysplasia, hypospadias and penile cur- infertility secondary to germinal failure, epididymal vature along with less common disorders such as anomalies and oligospermia or azoospermia.5 posterior urethral valves, prune belly syndrome and Testicular biopsies of cryptorchid testes at 1 year epispadias-exstrophy complex and their contribu- demonstrate decreased Leydig cell numbers and tion to male sexual dysfunction and infertility are immature histology.6 Orchiopexy improves ferti- discussed. lity in these patients. Lee and Coughlin7 demonstrated paternity rates of 65.3% in bilaterally cryptorchid men who underwent orchiopexy in childhood compared to 92.3% in control subjects. Cryptorchidism Patients with a unilateral cryptorchid testis have paternity rates that are not significantly different Cryptorchidism or undescended testis is the most from controls.8 Furthermore, another study failed to common abnormality of male endocrine glands in show a difference in paternity among men with children, with an incidence of 3.4–5.8 % in full- monorchidism owing to an absent or removed testis, term newborns. In premature births, the incidence is 2 men with unilateral cryptorchidism treated with as high as 30%. A unilateral cryptorchid testis is orchiopexy in childhood and controls.9 In those more common with only 1.6–1.9% of boys having 3 patients with decreased fertility from bilateral dis- bilateral undescended testes. It is reported that ease, successful pregnancy is possible using testi- approximately 75% of cryptorchid testes will des- cular sperm extraction and intracytoplasmic sperm cend spontaneously within the first 3 months of life injection.10

Correspondence: Dr JS Palmer, Division of Pediatric Urology, Rainbow Babies and Children’s Hospital, 11100 Congenital penile curvature Euclid Avenue, Cleveland, OH 44106, USA. E-mail: [email protected] Congenital penile curvature, or chordee, can occur Received 8 November 2005; revised 10 March 2006; independently or in association with other penile accepted 13 March 2006; published online 25 May 2006 abnormalities, such as hypospadias or epispadias. Congenital genitourinary anomalies and sexual function I Taran et al 116 The curvature is most frequently ventral, but it can Exstrophy-epispadias complex also be dorsal or lateral. Multiple causes of chordee are proposed including skin tethering, fibrosis An epispadias is an abnormal dorsal opening of of superficial and deep penile fascia or dispropor- the urethral meatus that can be located anywhere tional corporal tissue development. If untreated, between the glans to the penopubic junction. This congenital penile curvature may result in prohibi- condition is relatively rare, and may occur concur- tion of or significant interference with vaginal rently with bladder exstrophy. The goal of surgical penetration, precluding normal sexual intercourse therapy is to position the urethra in a proper in adulthood. anatomical location. Associated bladder and cloacal Several operative techniques are described to exstrophy are challenging conditions, requiring correct the curvature depending on the etiology interdisciplinary approach to surgical treatment and the results are exceptional. Theiss et al.11 and family support. Over the past 50 years, the showed that intercourse was possible in all study focus has shifted away from urinary diversion to subjects following the correction. In a report by preservation of the bladder, requiring a complex Chertin et al.,12 none of the 83 patients reported surgical repair. penile shortening or erectile dysfunction following Following surgical reconstruction, male patients surgery and there was no recurrence reported during are faced with lifelong problems of sexual and median follow-up of 6 years. Following repair in reproductive functions. Although nearly 100% of another report, all patients showed elimination of these male patients can achieve normal erections penile curvature with preserved erectile function in adequate for sexual activity, infertility is proble- 92% and an 83% full satisfaction rate.13 Therefore, matic.16–19 A significant number of these patients do surgical management provides excellent rates of not ejaculate normally. For instance, Stein et al.17 penile straightening and patient satisfaction. report that none of the 35 patients ejaculate normally following genital reconstruction. Although this degree of impairment is not corroborated by other studies, Ben-Chaim et al.19 note a 63% Hypospadias incidence of normal ejaculatory volumes and Avolio et al.18 report a normal sperm count in 63% of Hypospadias is a common congenital malformation patients. Although it may be concluded that many in males. It is characterized by abnormal ventral of these patients will have difficulty in achieving opening of the urethral meatus and is frequently fatherhood, testicular sperm extraction and intra- associated with ventral penile curvature and a cytoplasmic sperm injection could improve their hooded foreskin. In patients with an uncorrected chances. distal hypospadias, along the distal penile shaft or Following such extensive genital reconstruction, subcoronal, fertility is still possible. However, a it is expected that these male patients may experi- proximal hypospadias with the urethral meatus at ence some level of psychosexual dysfunction. It is the penoscrotal junction or perineum precludes reported that 41–85% of post-pubescent males were normal ejaculation and sperm delivery. Multiple satisfied with their genital appearance after surgical corrective procedures have been described with an reconstruction.16–18 However, a study by Diseth emphasis on urethral reconstruction and penile et al.16 demonstrated that whereas 41% of patients straightening yielding excellent results. were satisfied with their penile appearance, all of Although surgical repair is deemed largely suc- the patients demonstrated some level of psychosex- cessful, there are few reports in the literature that ual dysfunction or psychiatric disorders including concentrate on patient quality of life and sexuality low levels of genital touching and initiating sexual following hypospadias repair. Bubanj et al.14 stu- contacts, depression, poor body concept, withdra- died long-term psychological and sexual adjustment wal and anxiety. It should be noted, however, that in patients who underwent hypospadias repair this study was not controlled and the population in childhood. Whereas the erectile function was may be too few to accurately claim this degree of similar between these patients and controls, they impairment. Clearly, though, close follow-up and were found to masturbate significantly less often, periodic assessment for psychosexual developmen- were less sexually active and had fewer sexual tal impairment is important in these patients. partners. Additionally, it is reported that patients In contrast to the male patients, girls have normal who underwent hypospadias repair were more fertility but do require surgical enlargement of the inhibited when seeking out sexual contacts and introitus.2 Stein et al.17 demonstrated high levels of were more embarrassed about their genital appear- satisfaction with cosmetic results of the reconstruc- ance; however, this did not lead to abnormal sexual tion in 17 women and, of those, five experienced functioning or retarded sexual adjustment.15 As normal pregnancy with deliveries via cesarean these patients have been shown to be reluctant to section. In a study of 83 women and girls with seek counseling, they should be followed and exstrophy-epispadias complex, all women over the supported throughout adolescence. age of 18 reported adequate sexual desire, with most

International Journal of Impotence Research Congenital genitourinary anomalies and sexual function I Taran et al 117 being sexually active; dyspareunia was a problem in induce puberty and have normal sexual function.25 25% of those patients though.20 It is thus concluded Woodhouse and Snyder26 studied nine patients with that owing to the less significant genital reconstruc- prune belly syndrome who underwent bilateral tion required for female patients, psychosexual orchiopexies in late childhood, resulting in sexually outcomes are improved. active but infertile men. Techniques of in vitro fertilization, especially intracytoplasmic sperm injection, have resulted in successful pregnancies 27 Posterior urethral valves in several of these patients.

Posterior urethral valves are obstructive tissue folds of the prostatic urethra. Despite early neonatal Myelodysplasia surgical intervention, severe obstruction owing to urethral valves can result in long-term urinary tract Myelodysplasia is a term used to describe abnorm- damage affecting renal function, ureteral and blad- alities of the vertebral column that affect spinal cord der smooth muscle function and urinary continence. function. More specifically, a meningocele occurs Sexual function is also adversely affected; however, when meninges but no neural elements extend few studies are available. beyond the confines of the vertebral canal; in a Whereas an exact etiology for sexual dysfunction myelomeningocele, neural tissue protrudes with the remains unclear, these patients face significant meningocele. With aggressive multidisciplinary problems with erectile function and paternity. In a management, many patients with myelodysplasia report of long-term follow-up with males treated for reach adult age and may be reproductively active. posterior urethral valves, only those patients with Females with myelodyspalsia are considered to end-stage renal disease did not father children, have normal fertility.2 However, obstetric complica- whereas the majority of those with normal renal tions specific to this group of patients exist. In function or moderate renal failure achieved pater- women with urinary diversion, the risk of obstruc- nity.21 This may simply reflect a more severe case of tion is increased. The risks of urinary tract infec- valves occurring at an earlier stage of embryogenesis tions, bladder function deterioration and premature resulting in more wide-spread effects. Infertility is labor owing to pelvic deformity is elevated.28 also attributed to hyperprolactinemia, seen in 62% In contrast to females, fertility and sexual function of patients in one study.22 in males with myelodysplasia is related to the level Furthermore, ejaculation is found to be slow or of motor and sensory defect. It is believed that absent in nearly 40% of men with history of patients with neurological level below L3 have posterior urethral valves,2 and semen analysis in normal sexual function.2 Sandler et al.29 demon- these patients demonstrated increased liquefaction strated that the number of nocturnal erections was time, abnormal sperm agglutination and a high related to sensory level, whereas self-reported percentage of immotile sperm.23 In review of 21 erection capability was related to motor level. In men who were treated for posterior urethral valves contrast, Decter et al.30 did not find the level of the in infancy, erections and orgasms were adequate in neurological lesion to be predictive of erectile or 20; however, nine had either slow or dry ejaculation, ejaculatory function, but demonstrated that repro- and only three fathered children.24 Although the ductive success was higher in patients with lower reasons for these issues are unknown, it is clear that and less severe lesions. Erectile dysfunction in these posterior urethral valves affect fertility in several patients is responsive to sildenafil, resulting in ways. improvement in erectile function in 80% of patients in a dose–response relationship.31,32 Therefore, it is concluded that patients with myelodysplasia Prune belly syndrome have the potential to establish productive sexual relationships. Prune belly syndrome is a syndrome of unknown cause characterized by congenital absence or hypo- plasia of the abdominal wall musculature accom- panied by a large hypotonic bladder, dilated and Conclusion tortuous ureters and bilateral cryptorchidism. These patients suffer from infertility as well. In fact, there Congenital genitourinary abnormalities are an are no case reports of a patient with the prune belly important contributor to sexual dysfunction. With syndrome who naturally fathered children. In a appropriate early recognition and treatment, excel- study assessing the functional outcome of prune lent results can be achieved in terms of long-term belly patients following bilateral Fowler–Stephens sexual and psychosocial outcomes. Improvements of orchiopexy in childhood, it was found that the our understanding in pathophysiology, surgical majority of boys had sufficient testicular function to techniques and advances in assistive reproductive

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