Predictive value of ultrasound in prenatal diagnosis of hypospadias: hints for accurate diagnosis.

OBJECTIVES: This study aims to assess the diagnostic accuracy of targeted ultrasound examination in prenatal diagnosis of hypospadias and to evaluate the predictive values of defined ultrasonographic findings of hypospadias. METHODS: The cases diagnosed with hypospadias in our fetal medicine center were identified on an electronic database. The ultrasound reports, images and hospital records were reviewed retrospectively. The predictive value of prenatal ultrasound diagnosis and the predictive values of each sonographic finding were assessed according to the postnatal clinical examinations. RESULTS: Thirty-nine cases were diagnosed with hypospadias on ultrasound during the 6 years. Nine fetuses with missing postnatal examination records were excluded. Twentytwo of the remaining fetuses had their prenatal diagnosis of hypospadias confirmed in postnatal examinations, indicating a 73.3 % positive predictive value. Normal external genitalia was detected in postnatal examinations of three fetuses. Five fetuses were diagnosed with other external genital abnormalities, including micropenis (n=2), clitoromegaly (n=2), and buried penis with bifid scrotum (n=1) in postnatal examinations. The positive predictive value of prenatal ultrasound for any external genital abnormality was 90 %. CONCLUSIONS: Although the positive predictive value of ultrasound for genital anomalies is satisfying, it is slightly lower for the specific diagnosis of hypospadias. This reflects overlapping ultrasound findings of different external genitalia anomalies. Standardized, systematic evaluation of the internal and external genital organs, karyotyping and genetic sex determination are essential to achieve a precise prenatal diagnosis of hypospadias.

Prenatal Diagnosis and Classification of Fetal Hypospadias: The Role and Value of Magnetic Resonance Imaging.

BACKGROUND: Prenatal diagnosis and classification of hypospadias are difficult and of value for management during perinatal and neonatal periods. The conventional approach for prenatal diagnosis of hypospadias is ultrasound; however, this technique may be inconclusive in certain cases, which prompts for further exploration with magnetic resonance imaging (MRI). PURPOSE: To investigate the role of MRI in the prenatal diagnosis and classification of fetuses with hypospadias. STUDY TYPE: Retrospective. POPULATION: Thirty-five fetuses (median gestational age = 37, range 24-39 weeks) with possible hypospadias. FIELD STRENGTH/SEQUENCE: Single-shot fast spin echo T2-weighted imaging, fast imaging employing steady-state acquisition (FIESTA), and three-dimensional FIESTA acquired at 1.5 T. ASSESSMENT: Diagnosis and classification of hypospadias using MRI were performed by three experienced radiologists based on MRI features, including a short penile shaft, abnormal penile tip, penile curvature, bifid scrotum, "tulip sign," and penoscrotal transposition. The accuracy of MRI in the diagnosis and classification of hypospadias was assessed in comparison to postnatal clinical diagnosis. The interobserver agreement between radiologists was also assessed. STATISTICAL TESTS: Kendall's W test was applied to assess the interobserver agreement between radiologists. Taking postnatal clinical diagnosis as the reference standard, the sensitivity, specificity, positive predictive value, negative predictive value, and accuracy were calculated. RESULTS: Of the 35 fetuses, 24 cases were confirmed as hypospadias through postnatal clinical diagnosis. The interobserver agreement between radiologists was substantial (Kendall's W = 0.781, P < 0.001). Of the 24 confirmed cases (13 cases of severe hypospadias and 11 cases of mild hypospadias), 22 cases were correctly diagnosed by MRI. The accuracy of MRI in the diagnosis of hypospadias, severe hypospadias, and mild hypospadias was 85.71%, 82.86%, and 80.00%, respectively. DATA CONCLUSION: MRI has good performance in the diagnosis of fetal hypospadias. In addition, MRI could help evaluate the severity of fetal hypospadias. LEVEL OF EVIDENCE: 3 TECHNICAL EFFICACY: Stage 2.

Localization of external urethral orifice in coronary sulcus during urethroplasty in case of severe hypospadias accompanied by prostatic utricle cyst.

BACKGROUND: To explore whether opening the external urethral orifice in the coronal sulcus can reduce the incidence of epididymitis after operating on hypospadias with prostatic utricle cyst (PUC) connecting to the vas deferens. Group A consisted of 3 patients with severe hypospadias and PUC undergoing cystostomy, hypospadias correction and urethroplasty, along with the relocation of the external orifice of the urethra to the coronal sulcus. Group B consisted of 4 patients having initial hypospadias repaired with meatus in the orthotopic position in the glans, presenting with multiple epididymitis after hypospadias surgery and unsuccessful conservative treatment. MR confirmed that all the Group B patients had PUC connecting to the vas deferens. Group B patients underwent urethral dilatation along with urethral catheterization, cutting of the original corpus cavernosum that encapsulated the urethra, and extension of the position of the external urethral orifice to the coronal sulcus. RESULTS: In group A, 3 children underwent bladder fistula removal 2 weeks after the operation. The penis developed normally without any complications. Four children in group B underwent stent removal 12 weeks after operation, and one patient was still stenosed and dilated again. All patients in group B were followed without epididymitis recurrence. CONCLUSIONS: For patients with hypospadias complicating with a PUC, connecting to one side of the vas deferens, the positioning of the external urethral orifice in the coronary sulcus would be helpful to reduce the occurrence of epididymitis.

The distribution of Preputial vessels in different severity of rat congenital hypospadias model: imaging study using micro-computerized tomography.

BACKGROUND: Micro-computerized tomography (micro-CT) is considered as an innovative non-invasive and high-resolution imaging technology. The current research aims to reconstruct the distribution of preputial vessels in different severity of rat congenital hypospadias model by micro-CT, and to provide an anatomic basis for the selection of preputial vessel pedicle flaps in surgery. METHODS: Pregnant rats were exposed to finasteride from gestational day 12 to 17. Depending on the position of the urethral meatus, the pups were divided into normal, mild hypospadias and severe hypospadias groups. Six months after birth, the preputial blood vessels were observed in vascular perfusion with Microfil (a silicone-based polymer) and scanned by micro-CT. CTvox and NRecon were utilized to reconstruct 3-dimentional (3D) images. A pathological analysis of the specimen was taken in order to determine the position of Microfil. RESULTS: The normal group and the mild hypospadias group had similar preputial image characteristics. At the junction of the inner and outer prepuce, the deep layer vessels of the superficial fascia were transversely distributed and formed a vascular ring-like structure. Among the severe hypospadias group, five had sufficient blood circulation while six had insufficient blood circulation. In sufficient blood circulation type, the ring-like vessels were found at the junction of the inner and outer prepuce similar to that of the normal and mild hypospadias group. However, only a small amount of capillary supply to this area in the insufficient type. CONCLUSION: The junction of the inner and outer prepuce with abundant blood circulation was suitable to be a vascular pedicle flap. The tubularized preputial island flaps were consistent with the ring-like vessels area, and the original blood supply was retained to the greatest extent.

Prostatic utricles without external genital anomalies in children: our experience, literature review, and pooling analysis.

BACKGROUND: It has been recognized that the incidence of prostatic utricle in boys is increasing and is closely associated with diseases such as hypospadias. However, the clinical features of prostatic utricle with normal external genitalia have received little attention. METHODS: Based on this, a series of 22 male children with prostatic utricles has been compiled by adding our 3 patients to 19 cases reported. All children enrolled had normal external genitalia. Clinical data of the case was reviewed. RESULTS: Urinary tract infection, purulent urethral discharge and pyuria were the most common presenting chief complaint (41%), irritative lower urinary tract symptoms were present in 17% of cases, obstructive lower urinary tract symptoms were noted in 14%. Urinary retention has been reported in 18% and epididymitis has been reported in 14%. Relatively rare clinical symptoms are abdominal pain, hematuria, and hematospermia. A case of calculus formation and a case of neoplasia within the prostatic utricle has been reported. A cystic mass found by digital rectal examination is the most common presenting sign. A utricular lesion posterior to the bladder was revealed by imaging examination. Unilateral renal agenesis was associated in 32% of reports. Non-surgical approach was chosen in 3 cases, transrectal ultrasonography guided aspiration has been reported in 1 case. Endoscopic techniques were used in 3 cases. Open excision was used in 11 cases. The laparoscopic excision was chosen in 3 cases and Robot-assisted laparoscopy was reported in 1 case. Symptoms and signs disappeared after treatment in all children, and no recurrence occurred during follow-up. CONCLUSIONS: Prostate utricles without external genital anomalies are rarely reported in children, and are easily missed and misdiagnosed, often accompanied by recurrent urinary tract infections, lower urinary tract symptoms, epididymitis, dysuria and other symptoms. Imaging studies can confirm the diagnosis. Symptomatic and large utricles should be actively treated. The treatment program should be based on the age, clinical symptoms, and size and location of the utricle.

Prevalence and risk factors of testicular microlithiasis in patients with hypospadias: a retrospective study.

BACKGROUND: It has been described that the incidence of testicular microlithiasis is high in several congenital disorders which may be associated with testicular impairment and infertility. Several reports have shown that a prepubertal or pubertal hormonal abnormality in the pituitary-gonadal axis was identified in some patients with hypospadias that is one of the most common disorders of sex development. However, exact prevalence or risk factors of testicular microlithiasis in patients with hypospadias have not reported so far. In the present study, to clarify the prevalence and risk factors of testicular microlithiasis in patients with hypospadias, a retrospective chart review was performed. METHODS: Children with hypospadias who underwent testicular ultrasonography between January 2010 and April 2016 were enrolled in the present study. Severity of hypospadias was divided into mild and severe. The prevalence and risk factors of testicular microlithiasis or classic testicular microlithiasis were examined. RESULTS: Of 121 children, mild and severe hypospadias were identified in 66 and 55, respectively. Sixteen children had undescended testis. Median age at ultrasonography evaluation was 1.7 years old. Testicular microlithiasis and classic testicular microlithiasis were documented in 17 children (14.0%) and 8 (6.6%), respectively. Logistic regression analysis revealed that presence of undescended testis was only a significant factor for testicular microlithiasis and classic testicular microlithiasis. The prevalence of testicular microlithiasis or classic testicular microlithiasis was significantly higher in children with undescended testis compared to those without undescended testis (testicular microlithiasis; 43.8% versus 9.5% (p = 0.002), classic testicular microlithiasis; 37.5% versus 1.9% (p < 0.001). CONCLUSIONS: The current study demonstrated that the presence of undescended testis was only a significant risk factor for testicular microlithiasis or classic testicular microlithiasis in patients with hypospadias. As co-existing undescended testis has been reported as a risk factor for testicular dysfunction among patients with hypospadias, the current findings suggest that testicular microlithiasis in children with hypospadias may be associated with impaired testicular function. Conversely, patients with isolated HS seem to have lower risks for testicular impairment. Further investigation with longer follow-up will be needed to clarify these findings.

Prenatal Anogenital Distance Is Shorter in Fetuses With Hypospadias.

OBJECTIVES: Recent research provides evidence that anogenital distance may serve as a novel metric to assess reproductive potential in men. In children, a shorter anogenital distance was linked with cryptorchidism, hypospadias, and micropenis. Scarce data exist in the literature regarding anogenital distance measurement in the fetus. The aim of our study was to assess whether intrauterine measurement of fetal anogenital distance could assist in the differential diagnosis of male genital anomalies. METHODS: Anogenital distance was prospectively measured in all cases referred for suspected isolated abnormal male genitalia. Final diagnoses, confirmed by a pediatric urologist, were compared with anogenital distance prenatal measurements. RESULTS: Fifty-two cases were referred for evaluation because of suspected male external genital malformation during a 12-month period. Cases with normal-appearing genitalia, associated major malformations, and early severe fetal growth restriction were excluded from the study. Postnatal examination revealed 14 cases of hypospadias in varying severity and 8 cases of a buried penis. All fetuses with hypospadias had an anogenital distance measurement below the fifth percentile. Statistical analysis revealed a significant difference between the normal mean anogenital distance for gestational age versus those with hypospadias (mean ± SD, 16.90 ± 4.08 and 11.68 ± 3.31 mm, respectively; P = .001). No significant difference was found between the normal mean anogenital distance for gestational age versus those with a buried penis (18.85 ± 2.76 and 19.46 ± 3.41 mm; P = .700). CONCLUSIONS: Fetuses with hypospadias have a statistically significant shorter anogenital distance compared with the general population. Therefore, anogenital distance may serve as a complementary objective sonographic parameter in the prenatal assessment and counseling of male external genital anomalies.

Congenital talipes equinovarus: frequency of associated malformations not identified by prenatal ultrasound.

OBJECTIVES: To establish the frequency of prenatally undetected associated malformations (identified at birth) in infants with apparent "isolated" club foot deformity. METHODS: A cohort study of all infants with unilateral or bilateral club foot deformity identified at birth among 311 480 infants surveyed between 1972 and 2012 at Brigham and Women's Hospital in Boston. Those with talipes equinovarus were divided into "isolated" and "complex", based on the findings in examination and by chromosome analysis. RESULTS: One hundred and forty-two infants had "isolated" talipes equinovarus (TEV), and 66 had the "complex" type. Six (4.2%) of the 142 infants with "isolated" TEV were found at birth to have associated malformations that had not been identified by imaging during pregnancy. These abnormalities included hip dislocation (n = 2), bilateral post-axial polydactyly of the feet (n = 1), penile chordee (n = 1), and hypospadias (n = 2). CONCLUSION: In this consecutive series of infants with isolated talipes equinovarus, 95.8% had no additional malformations identified by examination at birth. None of the additional findings were severe enough to affect the medical prognosis of the affected infant. © 2014 John Wiley & Sons, Ltd.

Objective documentation of hypospadias anatomy with three-dimensional scanning.

INTRODUCTION: The absence of a standardized classification of hypospadias hinders understanding of the anatomic differences among patients and the evaluation of outcomes following surgical repair. In working towards a standardized, objective method of recording patients' hypospadias anatomy, we describe our initial experience using a non-invasive three-dimensional scanner. MATERIAL AND METHODS: An Artec3D Space Spider scanner was used to obtain 3D scans in 29 patients undergoing hypospadias repair. Measurements of the urethral plate width, urethral plate length, glans width, penile shaft length, and penile shaft width were made by 2 pediatric urology attendings and 1 pediatric urology fellow. Measurements were compared and inter-rater reliability was calculated. RESULTS: A total of 435 measurements were made on 29 successfully generated 3D scans, ranging from distal to proximal hypospadias. The inter-rater reliability of measurements from the generated 3D models shown good inter-rater reliability of urethral plate width (ICC0.87 [95%CI:0.76,0.93]), penile shaft length (ICC0.87 [95%CI:0.70,0.94]) and glans width (ICC0.83 [95%CI:0.68,0.92]), excellent inter-rater reliability of urethral plate length (ICC0.96) and moderate inter-rater reliability of penile shaft width (ICC0.69 [95%CI:0.44,0.84]). DISCUSSION: There was a high degree of reliability of measurements made across multiple users. Calculation of the ratio of the urethral plate length/total penile shaft length objectively defined the initial position of the urethral meatus. When compared to the 3-dimensional volume of the glans, a more proximally positioned urethral meatus was associated with a lower glans volume. CONCLUSION: 3D scanning offers a rapid, reproducible, and non-invasive method of documenting hypospadias anatomy. The ability to evaluate three dimensional features (i.e. glans volume) offers an exciting opportunities for robust investigation of hypospadias outcomes and further understanding of the relationship between a patient's genotype and phenotype.

Uroradiological screening for upper and lower urinary tract anomalies in patients with hypospadias: a systematic literature review.

INTRODUCTION: Hypospadias is associated with anomalies of the urinary tract, but the exact prevalence and significance of these anomalies are still controversial. OBJECTIVES: To assess the percentage of patients with hypospadias and associated urological anomalies, either requiring or not requiring medical or surgical attention. MATERIAL AND METHODS: We searched several databases using the following Mesh terms: hypospadias AND urination, ultrasonography, urinary tract/abnormalities, urinary bladder/radiography, ureteral obstruction, hydronephrosis or vesico-ureteral reflux. Type of uroradiological studies performed, type of urological anomalies, medical or surgical interventions, number of patients available, enrolled and undergoing uroradiological studies and number of patients with abnormal uroradiological exams were recorded. RESULTS: We found 24 studies. Four studies included 100% of available patients. In the other ones, the percentage of patients undergoing uroradiological screening varied from 12 to 82%. Frequency of anomalies varied from 0 to 56%. The most common anomalies were kidney position anomalies, vesico-ureteral reflux and hydronephrosis. CONCLUSIONS: The data published about screening patients with hypospadias for associated anomalies of their urinary tract are of poor quality. The clinical significance of the anomalies found is difficult to evaluate. We found no relationship between the severity of the hypospadias and associated anomalies of the upper or lower urinary tract.

[Sexual development of boys with hypospadias].

The article presents the results of a clinical evaluation of 39 boys with hypospadias aged 10-15 years. The examination included clinical assessment of pubertal development, and Doppler ultrasound scan of the gonads, transrectal ultrasound of the prostate in adolescents over 14 years, the definition of serum levels of gonadotropins, sex steroids and inhibin B. Puberty in boys with hypospadias is characterized by later appearance of pubarhe, microphallus, lack of testicular blood flow, and hypotrophy of the prostate. Statistically significant difference in sexual development of boys with penile and scrotal hypospadias was detected. On the basis of the hormonal examination, a violation of function of Sertoli cells in 43% of boys with the penile hypospadias and in 68% with scrotal hypospadias was identified. Leydig cell dysfunction was not found.

Anatomical study of hypospadias penis using magnetic resonance imaging in children.

INTRODUCTION: To assess the various anatomical patterns of the hypospadias penis, anatomical and histological study of the penile tissues, planes, and vascular patterns, and imagings such as ultrasound of penis, elastography, and Magnetic resonance imaging (MRI) of penis have been described in the literature. All these have been done to attempt the identification of anatomical variations that may influence surgical outcomes. There are very limited MRI studies of hypospadias penis to look for the pristine anatomy. OBJECTIVE: The objective was to identify anatomical variations in hypospadias penis such as the penile tissues and planes and the vascularity using MRI. MATERIAL AND METHODS: The total number of patients enrolled was 24 from January 2019 to July 2020. This included all the cases of hypospadias at any location aged ≥5 years. MRI penis was done using 3T (3 Tesla) MRI scanner (GE Healthcare signa 3T Scanner machine) with 3 mm body coil slice thickness and the surface coil of 3 inches. Non-contrast images were taken using fast spin-echo sequences in sagittal, coronal, and transverse planes. The findings analyzed were: presence and distribution of penile tissue and fascial structures, urethral plate thickness, and penile vasculature. RESULTS: The mean age was 7.62 ± 2.14 years. The types of hypospadias included were Coronal 1/24 (4.2%), Subcoronal 14/24 (58.3%), Distal penile 3/24 (12.5%), Midpenile 5/24 (20.8%) and Penoscrotal 1/24 (4.2%) (Summary Table 1). The mean urethral plate thickness was 1.33 ± 0.38 mm. The penile soft tissues were well visualized along with their fascial planes. The majority of patients (91.7%, 22/24) had Superficial Dartos vessels with both branches. Bulbourethral vessel was present in 18 (75.0%) cases but could not be visualized in the rest. Ventral and Lateral Dartos vessels were seen in 20 (83.3%) cases. Perforators distal to meatus were visualized in 21 (87.5%) cases and not visualized in 3 (1 each in Penoscrotal, Midpenile, and Coronal hypospadias). Collaterals at corona sulcus were visualized in 23 (95.8%) cases, at paraurethral spongiosum in 15 (62.5%) cases, and at dorsum in 22 (91.7%) cases. CONCLUSION: 3T MRI gives precise images in hypospadias with relation to the tissue and fascial planes of the penis. The vascular pattern visualization in these patients may be confirmed by the availability of a dedicated penile coil which will help to improve the resolution of the penile structures. Analyzing the penile vascular pattern and correlating it with surgical outcomes may aid the surgeon's knowledge of hypospadias, develop new surgical techniques and hence reduce complications.

Abnormalities of the penis in utero--hypospadias on fetal MRI.

OBJECTIVE: To demonstrate the visualization of penile abnormalities on fetal magnetic resonance imaging (MRI). METHODS: This retrospective study included five fetuses (25+0 to 31+6 gestational weeks) with penile abnormalities, positively depicted on fetal MRI, using prenatal ultrasonography (US) as a standard of reference. On MRI, the penis, as well as the scrotum and testicles, were evaluated. All fetal organs were reviewed to define penile abnormalities as isolated or in association with other anomalies. Furthermore, US and MRI findings were compared. RESULTS: Posterior hypospadias were demonstrated in all five fetuses, and abnormal testicular descent in two. Associated anomalies were present in all five fetuses on MRI, including abdominal/urogenital pathologies in four; brain pathologies in three; and craniofacial, cardiac, musculoskeletal, pathologies each in one fetus, and intrauterine growth retardation in one fetus. Compared to US, additional MRI findings were shown in four of five fetuses. CONCLUSIONS: Our MRI results demonstrate the visualization of fetal penile abnormalities and associated pathologies, which may provide information for perinatal management. MRI may show additional findings compared to prenatal US in certain cases.

Clinical course of vesicoureteral reflux in patients with hypospadias.

OBJECTIVES: The prevalence of vesicoureteral reflux (VUR) in hypospadic patients is reportedly higher than in healthy children. We investigated the prevalence and the clinical course of VUR in hypospadic patients. METHODS: We carried out intraoperative cystography to detect VUR in 338 patients who underwent hypospadias repair. Age, severity of hypospadias and the presence of VUR were investigated. A dimercaptosuccinic acid renal scan and follow-up voiding cystourethrography (VCUG) were carried out if VUR was detected. RESULTS: VUR was detected in 41 patients (12.1%). Of 156 patients who were younger than 1 year-of-age, 34 (21.8%) were found to have VUR. The prevalence of VUR was significantly higher in patients younger than 1year (P<0.001), but was not associated with hypospadias type (P=0.212). The reflux grades were I, II and III in 6, 52 and 1 renal units, respectively. Renal scarring was shown in one of 36 patients. Follow-up VCUG was carried out in 30 patients at a mean of 14.28±3.89months, and reflux resolved in 27 and improved from grade II to grade I in three patients. CONCLUSIONS: Although its prevalence is higher in hypospadic children than in healthy children, it is not necessary to screen for VUR in hypospadic patients, because it is likely to be low-grade and to resolve in most cases.

Prenatal two- and three-dimensional imaging in two cases of severe penoscrotal hypospadias.

We present the prenatal two- and three-dimensional (3D) ultrasound (US) findings in two cases of severe penoscrotal hypospadias. 3D sonography was used for better definition of ambiguous genitalia. The images were compared with postnatal clinical features. Despite hypospadias being the most common urogenital anomaly of male neonates, the diagnosis is often missed before birth. Performing prenatal ultrasound should include the study of genitals, not only determining the sex.

Fetal diagnosis of penoscrotal transposition associated with perineal lipoma in one twin.

Perineal lipoma is a rare condition which is commonly associated with scrotal anomalies and may be diagnosed as ambiguous genitalia. We report on a baby with penoscrotal transposition (PST) consisting of bifid scrotum and hypospadias with chordee associated with perineal lipoma. The affected baby was one twin of an IVF pregnancy referred to our center for ambiguous genitalia by fetal ultrasound. Examination of the uterus revealed a dichorionic, diamniotic twin pregnancy. Fetal ultrasound and MRI in our center revealed an exophytic perineal mass, which likely represented a lipoma, separate from the abnormally appearing phallus and scrotum (hypospadias with chordee and a bifid scrotum). This likely fell into the PST spectrum. There were no additional abnormalities in the other structures and no structural abnormality of co-twin was detected. Fetal growth of both twins was appropriate for gestational age. Babies were born at term and the findings of the affected twin correlated with the fetal diagnoses. While some reports show PSTs are associated with multiple anomalies, in this case no additional anomalies were identified. Perineal lipomas are commonly associated with scrotal abnormalities and anorectal malformations. It is hypothesized that these anomalies develop because of the perineal lipoma. MRI combined with ultrasound clearly defined the anomaly prenatally and allowed for accurate prenatal counseling and coordination of postnatal care.