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Purpose: Surgery is the first line treatment for congenital concealed penis but penile retraction is inevitable in some cases. We investigate the anatomical and histological characteristics of penile fasciae and describe a new technique for the correction of concealed penis., Materials and Methods: The anatomical structures of penile fasciae were observed in 10 adult cadaveric penises. Penile tissue samples were stained with hematoxylin-eosin, Masson's trichrome and Weigert's resorcin-fuchsin, respectively. From January 2017 to May 2019, 78 patients with congenital concealed penis were treated with the new surgical technique. Median patient age was 14 years (range 8 to 18)., Results: Dartos fascia had sublayers. The superficial layer was a well vascularized tissue composed of nonpolar collagen fibers intermixed with nerves and vessels. The deep layer was composed of a transverse arrangement of collagen fibers and elastic fibers, and there were fewer venules and nerve fibers. Based on this finding we performed anatomical resection of the deep layer of dartos fascia to correct concealed penis. During the operation dartos fascia was separated into 2 layers and a complete circular resection of the deep layer was made at the base of the penis. Mean followup was 14 months. All patients and their parents were satisfied with the outcomes. None of the patients underwent postoperative penile retraction., Conclusions: The anatomical resection of the deep layer of dartos fascia for correcting concealed penis is technically easy, safe and effective. It provides a good cosmetic appearance and functional outcomes.

Congenital penile agenesis is a rare condition with an incidence of 1 in 30 million, while other congenital malformations of the cavernous bodies are much less common. In a few cases in the literature, it has been reported that the reason for consulting a physician with these conditions is the insufficient erection. As a first reported case, we present a 16-year-old male patient with partial unilateral corpus cavernosum agenesis accompanying genitourinary anomalies., (Copyright © 2020 Elsevier Inc. All rights reserved.)

Objectives: To report the clinical spectrum of genital defects diagnosed before birth, identify predictive factors for severe phenotypes at birth, and determine the rate of associated malformations., Patients and Methods: A retrospective study (2008-2017) of 4580 fetuses, identified prenatally with abnormalities evaluated by our Reference Center for Fetal Medicine, included cases with fetal sonographic findings of abnormal genitalia or uncertainty of fetal sex determination. Familial, prenatal and postnatal data were collected via a standardised questionnaire., Results: In all, 61 fetuses were included. The positive predictive value (PPV) of the prenatal diagnosis of genital defects was 90.1%. Most cases were 46,XY-undervirilized boys, 42 cases (68.8%), which included 29 with mid-penile or posterior hypospadias, nine with anterior hypospadias, and epispadias, micropenis, scrotal transposition, and buried penis (one each). In all, 46,XX-virilized girls were identified in seven cases (11.5%), which included four with congenital adrenal hyperplasia, two with isolated clitoromegaly, and one with ovotestis. Other defects included prune belly syndrome and persistent cloaca (six cases). Early detection during the second trimester (58.1% vs 18.8%, P = 0.03), intra-uterine growth restriction (IUGR) (45.2% vs 9.1%, P = 0.06), and curvature of the penis (38.7% vs 0%, P = 0.02), were more frequently related to severe defects in male newborns. Associated malformations (14 cases, 22.9%) and genetic defects (six) were frequent in undervirilized boys., Conclusion: Prenatal imaging of genital defects leads to a wide range of phenotypes at birth. Its PPV is high and extra-urinary malformations are frequent. Early diagnosis during the second trimester, associated IUGR, and curvature of the genital tubercle, should raise suspicion of a severe phenotype and may justify delivery near a multidisciplinary disorders/differences of sex development team., (© 2019 The Authors BJU International © 2019 BJU International Published by John Wiley & Sons Ltd.)

The article reports two cases of seminal vesicle cysts with ipsilateral renal agenesis in children. The congenital nature of this condition, characteristic features of the clinical manifestation of seminal vesicle cysts makes it difficult to recognize this rare genitourinary disease. Using current methods of diagnosis and surgical treatment result in successful outcomes.

Median raphe cysts are rare congenital lesions ofthe male genitalia that occur as a result of alteredembryologic development. We report two such casesof median raphe cysts in the pediatric age group. Inaddition, we review the literature.

Objectives: We reviewed the clinical presentation and approach for the treatment of symptomatic seminal vesicle cyst associated with ipsilateral renal agenesis while presenting our experience with a series of 5 patients treated with minimally invasive surgery for Zinner syndrome., Materials and Methods: Between the years 2008 and 2016, we operated on 5 patients who presented with symptomatic seminal vesicle cyst and ipsilateral renal agenesis. Patients' charts and medical records were reviewed and compared with past published minimally invasive series., Results: Four patients were treated in a laparoscopic approach and one was treated with robotic-assisted seminal vesicle cyst excision. In all cases, the cystic complex was drained and excised with marsupialization of the remaining cyst walls to prevent cystic recurrence. The mean operating time was 3:47 h and mean hospitalization time was 7 days (4-14). The mean follow-up period was 3.2 years (range 1.7-4.8 years). All patients reported a resolution of symptoms during postoperative follow-up., Conclusions: Seminal vesicle cyst with ipsilateral renal agenesis should be suspected in young male patients presenting with pelvic cystic masses. Treatment is reserved for symptomatic patients and the preferred approach is minimally invasive surgery. This approach is feasible and effective while providing advantages both for the patient and the surgeon., (© 2017 S. Karger AG, Basel.)

Background: Early postnatal administration of gonadotropins to infants with congenital hypogonadotropic hypogonadism (CHH) can mimic minipuberty, thereby increasing penile growth. We assessed the effects of gonadotropin infusion on stretched penile length (SPL) and hormone levels in infants with congenital micropenis., Methods: Single-center study including 6 males with micropenis in case of isolated CHH (n = 4), panhypopituitarism (n = 1), and partial androgen insensitivity syndrome (PAIS; n = 1). Patients were evaluated at baseline, monthly and at the end of the study through a clinical examination (SPL, testicular position and size), serum hormone assays (testosterone, luteinizing hormone, follicle-stimulating hormone, inhibin B, anti-Müllerian hormone [AMH]), and ultrasound of penis/testes., Results: In CHH, significant increases occurred in serum testosterone (from undetectable level to 3.5 ± 4.06 ng/mL [12.15 ± 14.09 nmol/L]), SPL (from 13.8 ± 4.5 to 42.6 ± 5 mm; p < 0.0001), inhibin B (from 94.8 ± 74.9 to 469.4 ± 282.5 pg/mL, p = 0.04), and AMH (from 49.6 ± 30.6 to 142 ± 76.5 ng/mL, p = 0.03). Micropenis was corrected in all patients, except one. On treatment, in the patient with PAIS, SPL was increased from 13 to 38 mm., Conclusions: Early gonadotropin infusion is a safe, well-tolerated and effective treatment. The effect in PAIS has not been reported previously. Long-term follow-up is needed to assess the impact, if any, on future fertility and reproduction.
., (© 2017 S. Karger AG, Basel.)

Idiopathic scrotomegaly in adolescent boys can be a bothersome and distressing complaint. The challenge lies in accepting its potential impact on the patient's body image, offering a simple solution with minimal morbidity. Herein, we present a novel approach to reduction scrotoplasty, which adds to the limited published strategies available, and provides surgeons with a safe and effective procedure to correct this condition. Our report also calls attention to a potentially under-recognized medical problem in adolescents and young adults., (Copyright © 2015 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.)

Introduction: Seminal vesicle cysts are rarely diagnosed, but symptomatic congenital seminal vesicle cysts are reported in the literature describing Zinner syndrome., Case Description: We present the case of a 26-year-old patient admitted to the urology department because of abdominal pain. A left seminal vesicle cyst and left kidney agenesis were found on examination, and the patient qualified for laparoscopic removal of the left seminal vesicle cyst. The procedure was performed with transperitoneal access using 5 trocars. The peritoneum was incised between the bladder and the rectum to reveal the left seminal vesicle, which was resected from the surrounding tissue. A TachoSil (Takeda Pharmaceuticals, Zurich, Switzerland) hemostatic sponge was placed in the ledge after cutting the base of the seminal vesicle., Discussion: The aim of this study was to evaluate usefulness of the laparoscopic technique to remove a cystic seminal vesicle. The procedure lasted 180 minutes, and the estimated blood loss was 50 mL. We did not record any intra- or postoperative complications. The patient was discharged from the hospital on the third postoperative day and remains symptom-free after 12 months. Histopathologic examination confirmed the presence of a seminal vesicle cyst, and renal agenesis and stenosis of the vas deferens suggests Zinner syndrome. Symptomatic seminal vesicle cysts are a good indication for the application of a laparoscopic technique and, in our opinion, this is better than the open technique because of the view into the surgical area. Therefore, it should be used as the method of choice in treating seminal vesicle defects.

Congenital scrotal agenesis is the rarest anomaly of scrotal development disorder and is characterized by the absence of scrotal rugae in the perineum between the penis and anus. We report here a case of hemiscrotal agenesis in a 2-year-old boy. To the best of our knowledge, our patient is the second reported case of hemiscrotal agenesis in the English literature., (Copyright © 2012 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.)

We report a rare case of seminal vesicle cyst associated with ipsilateral renal dysplasia and vena cava malformation. A 76-year-old man was hospitalized because of difficulty in urination. We diagnosed benign prostate hyperplasia with vesical diverticulum and administered medication that was found to improve urination. However, positron emission tomography-computed tomography showed a large mass in the pelvic region ; therefore, additional examinations were performed. Urethrocystography showed a filling defect in the bladder. Computed tomography revealed the absence of the right kidney and the presence of a double vena cava and a large seminal vesicle cyst on the same side. Magnetic resonance imaging showed a cystic ectopic ureter associated with the seminal vesicle cyst. Therefore, we diagnosed the patient with a seminal vesicle cyst associated with ipsilateral renal dysplasia and performed cyst puncture. The patient is currently free from urinary symptoms at 12 months after surgery.

Objective: Current reference range values for fetal penile growth are based on length measurements. However, methodologies for measuring penile length differ among studies and from the standard technique used in children. We propose that the measurement of penile width may aid in its evaluation. The aim of the study was to create normograms for penile length and width., Methods: A prospective cross-sectional design was used. One hundred male fetuses at 22 to 36 gestational weeks were included. On ultrasound examination, penile length was measured from tip to base, where the penis joins the scrotum. Penile width was measured at the widest point across the penis. Reference values for the 5th and 95th percentiles were calculated for each gestational week., Results: There was a good correlation between gestational age and penile length (R(2) = 0.606) and width (R(2) = 0.683). The percentile of fetal weight estimation independently affected penile length and width. The interobserver correlation coefficient was 0.939 for length and 0.909 for width., Conclusion: Reference range values of fetal penile length and width are presented for 22 to 36 weeks of gestation. These values correlate to gestational age and estimated fetal weight percentile. These reference range measurements may help the evaluation of suspected micropenis., (© 2012 John Wiley & Sons, Ltd.)

Background: Over the past decades, an increasing trend in male external genital malformations such as cryptorchidism and hypospadias has led to the suspicion that environmental chemicals are detrimental to male fetal sexual development. Several environmental pollutants, including organochlorine pesticides, polychlorinated biphenyls, bisphenol A, phthalates, dioxins and furans have estrogenic and anti-androgenic activity and are thus considered as endocrine-disrupting chemicals (EDCs). Since male sex differentiation is critically dependent on the normal production and action of androgens during fetal life, EDCs may be able to alter normal male sex differentiation., Objective: The objective of this study was to determine the incidence of external genital malformations in a population of full-term newborn males in southern France. We also performed a case-control study to identify the risk factors for male external genital malformations, with a focus on parental occupational exposure to EDCs., Methods: Over a 16-month period, 1615 full-term newborn males with a birth weight above 2500 g were registered on a level-1 maternity ward, and the same pediatrician systematically examined 1442 of them (89%) for cryptorchidism, hypospadias and micropenis. For every male newborn with genital malformation, we enrolled nearly two males matched for age, parity and term. All parents of the case and control newborns were interviewed about pregnancy aspects, personal characteristics, lifestyle and their occupational exposure to EDCs using a detailed questionnaire. RESULTS We report 39 cases of genital malformation (2.70%), with 18 cases of cryptorchidism (1.25%), 14 of hypospadias (0.97%), 5 of micropenis (0.35%) and 2 of 46,XY disorders of sexual differentiation (DSD; 0.14%). We observed a significant relationship between newborn cryptorchidism, hypospadias or micropenis and parental occupational exposure to pesticides [odds ratio (OR) = 4.41; 95% confidence interval (95% CI), 1.21-16.00]. Familial clustering for male external genital malformations (OR = 7.25; 95% CI, 0.70-74.30) and medications taken by mothers during pregnancy (OR = 5.87; 95% CI, 0.93-37.00) were associated with the risk of cryptorchidism, hypospadias and micropenis, although the association was not statistically significant., Conclusions: Although the causes of male genital malformation are multifactorial, our data support the hypothesis that prenatal contamination by pesticides may be a potential risk factor for newborn male external genital malformation and it should thus be routinely investigated in all undervirilized newborn males.

Improvement in diagnosis of prenatal congenital urinary malformations (CUM) resulted in increased detection of CUM cases among newborns. To facilitate medical care for CUM newborns, we have developed an objective method of CUM newborns' health assessment. We studied 40 case histories of newborns with prenatally detected CUM admitted to urological clinics (20 with diagnosis of poor health and 20 with moderate condition severity) and 40 CUM newborns examined outpatiently (moderate health hazard). The computer analysis of the available data has established 13 most informative diagnostic criteria: 4 sonographic criteria, 3 lab criteria and 6 physical exam criteria estimated by 4 points - from 0 to 4. The criteria were pooled to a table which was used as a scale to assess general health condition. After delivery, CUM newborn gets inpatient health assessment by a neonatologist using 13 criteria. According to the total score, the condition is assessed as satisfactory (0-5), moderately severe (6-11), severe ( > 12). Efficacy of such health assessment was proved in a population study of 312 prenatal CUM newborns. Grouping of such newborns helps design of programs of further examination and management.

Purpose: A seminal vesicle cyst in combination with ipsilateral renal agenesis is rarely encountered. We present cases of this disease entity with symptoms, which were treated with a laparoscopic approach as a minimally invasive surgical treatment., Materials and Methods: We experienced 4 patients with seminal vesicle cysts and ipsilateral renal agenesis. The mean age was 45.8 years. Chief complaints were perineal pain and hematospermia. Seminal vesicle cysts and remnant ureters were excised by laparoscopic surgery with transperitoneal approaches., Results: The mean operative time was 133.8 minutes. The mean hospital stay was 6.8 days. There were no operative complications or transfusions., Conclusion: In our report, patients of congenital seminal vesicle cyst associated with renal agenesis are presented. Laparoscopy is considered a minimal invasive management of these combined anomalies, providing a good image and an easy approach.

A rare case of transverse testicular ectopia (TTE) in a 3-year-old child presenting to the department as bilateral undescended testis along with inguinal hernia is described. The patient was misdiagnosed at a peripheral health centre as a case of inguinal hernia and intersex. As TTE in such a condition is very uncommon, hence, it is being reported with a brief review of the relevant literature.

Inactivation of the von Hippel-Lindau (VHL) gene and activation of the hypoxia-inducible factor (HIF) in susceptible cells precedes formation of tumorlets and frank tumor in the epididymis of male VHL patients. We performed detailed histologic and molecular pathologic analysis of tumor-free epididymal tissues from VHL patients to obtain further insight into early epididymal tumorigenesis. Four epididymides from two VHL patients were serially sectioned to allow for three-dimensional visualization of morphologic changes. Areas of interest were genetically analyzed by tissue microdissection, immunohistochemistry for HIF and markers for mesonephric differentiation, and in situ hybridization for HIF downstream target vascular endothelial growth factor. Structural analysis of the epididymides revealed marked deviations from the regular anatomic structure resulting from impaired organogenesis. Selected efferent ductules were represented by disorganized mesonephric cells, and the maldeveloped mesonephric material was VHL-deficient by allelic deletion analysis. Furthermore, we observed maldeveloped mesonephric material near cystic structures, which were also VHL-deficient and were apparent derivatives of maldeveloped material. Finally, a subset of VHL-deficient cells was structurally integrated in regular efferent ductules; proliferation of intraductular VHL-deficient cells manifests itself as papillary growth into the ductular lumen. Furthermore, we clarify that that there is a pathogenetic continuum between microscopic tumorlets and formation of tumor. In multiple locations, three-dimensional reconstruction revealed papillary growth to extend deeply into ductular lumina, indicative of progression into early hamartoma-like neoplasia. We conclude epididymal tumorigenesis in VHL disease to occur in two distinct sequential steps: maldevelopment of VHL-deficient mesonephric cells, followed by neoplastic papillary proliferation.

A 79-year-old man with a 1-day history of increasing abdominal pain, decreased bowel activity, and abdominal distension was evaluated in emergency. Transabdominal pelvic ultrasonography and computerized tomography scans of the abdomen and pelvis showed the presence of a large pelvic multiloculated cystic mass between the bladder and rectum. At laparotomy, an extraperitoneal cystic lesion that was 20 cm in diameter was found to be compressing the bladder anteriorly and the rectum posteriorly. Definitive pathological diagnosis was fibromuscular hyperplasia of the seminal vesicle. The etiology of the cyst was most likely congenital, because a postoperative vesiculo-deferentography excluded the diagnosis of seminal stones. Prostatic disease was also excluded by a transrectal ultrasonograph. The patient's recovery was uneventful, and he was discharged on the seventh postoperative day. This is the first bowel obstruction caused by a congenital seminal vesicle cyst in the elderly reported in the literature.

Purpose: The long-term results of the management in adulthood of congenital curvature of the penis (ventral, lateral and dorsal) without hypospadias using 3 different techniques are carefully evaluated based on our experience., Materials and Methods: A total of 116 patients were operated on for congenital curvature of the penis without hypospadias in adulthood between January 1985 and December 2004 of whom 87 (75%) (mean age 24 years) were available for evaluation by a telephone survey. A total of 54 ventral, 28 lateral and 5 dorsal penile curvatures were operated on with a mean followup of 89 months. Bend was managed with Nesbit's procedure in 18, plication in 7 and the Heineke-Mikulitz technique in 62 men., Results: There were no significant intraoperative or postoperative complications. Overall 81 of the 87 patients (93.1%) were successfully treated with 1 operation. Curvature recurrence was less common in patients treated with the Heineke-Mikulitz technique. There were no complaints of de novo erectile dysfunction, but 15 men complained of shortening of the penis and 4 experienced decreased sensation of the glans., Conclusions: Although feasible in cases of different types of congenital curvature, in our 20-year experience chordectomy always reduced the bend but patients could never completely straighten the penis by themselves. Surgical correction was reported by patients to be highly successful using the Heineke-Mikulitz technique, and statistical analysis revealed it to be significantly better than plication or the Nesbit procedure in terms of palpable nodules, recurrence and overall satisfaction.

Background: About 98% of male affected with cystic fibrosis (CF [MIM 219700]) are infertile due to bilateral absence of vas deferens (CBAVD [MIM 277180]), which makes up 1-2 % of all cases with male infertility. A previous screening of the entire coding region of the cystic fibrosis transmembrane conductance regulator gene (CFTR [MIM 602421]) in CBAVD patients identified three novel mutations: P439S is located in the first nucleotide binding domain (NBD1) of CFTR, whereas P1290S and E1401K are located in NBD2., Methods: We analysed the effects of these novel mutations on CFTR processing and chloride (Cl(-)) channel activity., Results: Although maturation patterns were not affected, total amounts of mature P439S-CFTR and P1290S-CFTR were reduced. Confocal microscopy showed correct membrane localisation of E1401K-CFTR, whereas P439S-CFTR and P1290S-CFTR mutants were located mainly in the cytoplasm. Iodide influx assay and whole-cell patch clamp demonstrated significantly reduced cAMP-dependent anion conductances for all three mutants., Conclusion: Dysfunction of CFTR is caused by either defective CFTR trafficking (P439S and P1290S) or/and Cl- channel function (P1290S and E1401K). Thus reduced Cl- conductance caused by the three CFTR mutations affects normal development of vas deferens and leads to CBAVD, but the remaining function is sufficient to prevent other typical CF symptoms., (Copyright 2008 S. Karger AG, Basel.)

The LHX3 transcription factor plays critical roles in pituitary and nervous system development. Mutations in the human LHX3 gene cause severe hormone deficiency diseases. The gene produces two mRNAs which can be translated to three protein isoforms. The LHX3a protein contains a central region with LIM domains and a homeodomain, and a carboxyl terminus with the major transactivation domain. LHX3b is identical to LHX3a except that it has a different amino terminus. M2-LHX3 lacks the amino terminus and LIM domains of LHX3a/b. In vitro experiments have demonstrated these three proteins have different biochemical and gene regulatory properties. Here, to investigate the effects of overexpression of LHX3 in vivo, the alpha glycoprotein subunit (alphaGSU) promoter was used to produce LHX3a, LHX3b, and M2-LHX3 in the pituitary glands of transgenic mice. Alpha GSU-beta galactosidase animals were generated as controls. Male alphaGSU-LHX3a and alphaGSU-LHX3b mice are infertile and die at a young age as a result of complications associated with obstructive uropathy including uremia. These animals have a reduced number of pituitary gonadotrope cells, low circulating gonadotropins, and possible sex hormone imbalance. Female alphaGSU-LHX3a and alphaGSU-LHX3b transgenic mice are viable but have reduced fertility. By contrast, alphaGSU-M2-LHX3 mice and control mice expressing beta galactosidase are reproductively unaffected. These overexpression studies provide insights into the properties of LHX3 during pituitary development and highlight the importance of this factor in reproductive physiology.

Purpose: Approximately 20% of patients with congenital absence of the vas deferens remain without two mutations identified. We applied a strategy of serial screening steps to 45 patients with congenital absence of the vas deferens and characterized cystic fibrosis transmembrane conductance regulator gene mutations in all cases., Methods: DNA samples of 45 patients with congenital absence of the vas deferens were screened by successive different molecular genetics approaches., Results: Initial screening for the 31 most frequent cystic fibrosis mutations, IVS8 poly(TG)m, poly(T)n, and M470V polymorphisms, identified 8 different mutations in 40 patients (88.9%). Extensive cystic fibrosis transmembrane conductance regulator gene analysis by denaturing gradient gel electrophoresis, denaturing high-performance liquid chromatography, and DNA sequencing detected 17 further mutations, of which three were novel. Cystic fibrosis transmembrane conductance regulator gene rearrangements were searched by semiquantitative fluorescent multiplex polymerase chain reaction, which detected a CFTRdele2,3 (21 kb) large deletion and confirmed two homozygous mutations. Overall, 42 patients (93.3%) had two mutations and 3 patients (6.7%) had one mutation detected., Conclusions: The present screening strategy allowed a higher mutation detection rate than previous studies, with at least one cystic fibrosis transmembrane conductance regulator gene mutation found in all patients with congenital absence of the vas deferens.

Unlabelled: We report on a couple who delivered three healthy babies in three deliveries after cryo-TESE combined with ICSI. The male patient suffers from congenital bilateral absence of the vas deferens (CBAVD)., Methods: Three testicular sperm extraction (TESE) operations were performed in the male accompanied by six stimulated ICSI cycles in the female patient. Altogether, 59 oocytes were retrieved. Fifty-one oocytes (86%) were in metaphase II and 38 fertilized regularly (75%). Sixteen embryos, in the 3-6 cell stage, were transferred to the uterus., Results: The first, fifth and sixth embryo transfers of fresh embryos led to intact intrauterine singleton pregnancies. The pregnancy and implantation rates with fresh embryos were 50% and 20%, respectively., Conclusions: TESE or microscopic epididymal sperm aspiration in patients with CBAVD in combination with a healthy female partner is likely to yield very good results in ICSI/ET. As azoospermia can be caused by cystic fibrosis and cystic fibrous transmembrane conductance regulator gene mutation range varies dramatically in patients of different ethnic groups.

Congenital seminal vesicle cysts are usually diagnosed as incidental sonographic findings in patients with voiding complaints. Rarely they could also be detected in asymptomatic cases. In our study, a seminal vesicle cyst associated with ipsilateral renal agenesis and ureteral bud remnant in an asymptomatic patient is presented.

Primary congenital lymphedema is the rarest form of primary lymphedema. Lymphedema of the extremities presents at birth and rarely involves the genitalia. There has never been a reported case in Thailand. The authors herby report a case of a 6-year-old boy who presented with progressive swelling of the lower legs since birth. The edema progressed into his scrotum and his arms. There was no history of lymphangitis or cellulites. Physical examination revealed a generalized non-pitting edema of all extremities, more on the right leg than the left leg. Swelling of the scrotum and penis was also detected. A diagnosis of primary congenital lymphedema was confirmed with lymphoscintigraphy.

Introduction: The aim of this retrospective study was to describe the main characteristics and treatment of male external genitalia lymphedema., Patients and Methods: From 1987 to 2003, all patients seen in a single hospital for lymphedema of male external genitalia were included. For each patient, the following characteristics were recorded: primary or secondary lymphedema, cause of secondary form, date of onset of lymphedema, associated lower limb lymphedema, clinical signs, and complications. In the primary forms, lower limb lymphoscintigraphy was performed. Specific surgery was proposed in all cases of symptomatic lymphedema (circumcision, scrotum and/or penile cutaneous excision)., Results: Thirty-three patients with lymphedema of external genitalia (17 primary, 16 secondary) were recruited. Two primary lymphedema were congenital, one isolated. Mean age +/- SD of the onset of the 15 other primary genital lymphedema was 23.4 +/- 17.5 years, always after the appearance of lower limb lymphedema. Sixteen men had secondary lymphedema (bladder, prostate, or rectum cancer, Hodgkin or non-Hodgkin lymphoma, aorto-bifemoral bypass grafting, biopsy or curretage of inguinal nodes). Secondary genitalia lymphedema was not associated with lower limb lymphedema in two cases and, in the others it occurred 66 +/- 122 months after (n=11), at the same time (n=2) or before lower limb lymphedema (n=1). Clinically, we noted genitalia heaviness (n=31), lower limb lymphedema (n=30), vaginal hydrocele (n=13), impaired miction due to prepucial swelling (n=10), leakage of lymphatic fluid (n=10). Lower limb lymphedema was complicated by at least one erysipelas (n=20), spreading to the external genitalia (n=4). In primary forms, lymphoscintigraphy showed ipsilateral hypoplasia of inguinal nodes in lower limb lymphedema (n=14) and/or external genitalia backflow (n=7). Surgical treatment was performed in 17 cases (11 primary, 6 secondary) with good results after 21 months' median follow up (1 month-10 years). Two patients died of cancer. One secondary lymphedema improved spontaneously and one disappeared after withdrawal of lower limb pneumatic compression., Discussion: Lymphedema of external genitalia is responsible for discomfort and local complications. Surgical treatment is the main procedure of this disorder.

We report on a case of a 67 year old male who had a cyst in the seminal vesicle region on sonography. The computed tomography and magnetic resonance imaging findings included a seminal vesical cyst with an intracystic tumor associated with an ipsilateral renal agenesis and are demonstrated. Postoperatively the diagnosis of an intracystic papillary adenoma in a seminal vesicle cyst was made histologically.

Congenital lymphedema is a relatively rare disease caused by congenital abnormality of the lymphatic system. Although bacterial infection frequently causes complications with lymphedema, severe sepsis in congenital lymphedema of the genitalia has not yet been reported. We describe a patient with congenital penoscrotal lymphedema complicated by cellulitis, lymphangitis, and severe sepsis associated with a streptococcal infection. This case represents the importance of obtaining a detailed clinical history and physical findings.

Unlabelled: Diagnosis of pustular dermatosis occurring during the first days of life is based on clinical findings. Erythema toxicum neonatorum (ETN) is the more frequent benign self limiting eruption in the newborn., Case Reports: Three cases of ETN with localized pustules to the genitals and perineal area are described., Comment: When encountering a newborn with a localized pustulosis rash, it is important to separate benign condition as ETN from those that require prompt diagnosis and therapy. Atypical ETN and pustular dermatosis due to bacterial or viral infections or inflammatory diseases (e.g., eosinophilic pustulosis) can be differentiated by cytological and bacterial samples.

Unlabelled: Isolated congenital lymphoedema of the external genitalia in boys is extremely rare. It can have major physical and emotional consequences for the children. Three male patients with primary lymphoedema of the penis and scrotum are described. The first case presented with lymphoedema of the prepuce and the phallic skin that persisted after the age of 1 year. Circumcision and excision of the subcutaneous tissues of the phallic skin were successful in producing the appearance of a normal circumcised penis. The second case presented with oedema of both phallic and scrotal skin. At age 1 year only a pastous thickening of the prepuce remained, scrotal and phallic skin normalised spontaneously. Routine circumcision was successful with a 5-year follow up. The third case presented with persistent oedema of both the scrotum and the phallus. He suffered leakage of lymph requiring incontinence pads, with complicating skin infections recurring every 4-6 weeks at age 8 years. After complete peeling of the scrotal and phallic skin from subcutaneous tissue some leakage persisted, infections subsided. The cause of this disorder remains unknown, although hypoplasia of the lymphatic vessels is reported in most cases. In the literature, several congenital malformations have been associated with primary lymphoedema. These were not noted in our patients. Rarely, the lymphoedema regresses spontaneously. The treatment of persistent lymphoedema is surgical and consists of meticulous excision of all subcutaneous layers of the affected skin, combined with reconstruction of the penis and/or scrotum., Conclusion: Primary lymphoedema of the male external genitalia is an extremely rare malformation of the lymphatic vessels of unknown origin. If persistent, surgical treatment is necessary.

Purpose: Congenital lymphedema is a rare disorder that may result in disfiguring edema of the male genitalia. We reviewed our experience with 5 cases to advance our understanding of this challenging problem., Materials and Methods: Four boys with significant lymphedema underwent excision of the involved subcutaneous genital tissue and coverage with local skin flaps. Two boys in whom this approach failed later underwent complete excision of the involved subcutaneous tissue and skin, and coverage with split thickness skin grafts. The boy with minimal edema was observed., Results: Two of the 4 boys who underwent subcutaneous genital tissue resection and coverage with local skin flaps are markedly improved, although 1 requires further revision. In the other 2 boys treatment failed, necessitating repeat genital tissue excision and grafting. While there have been no recurrences in the grafted areas, each patient has required additional operations to manage recurrent edema in adjacent tissues of the perineum and inguinal region, and in 1 significant contraction of the grafted skin developed. Mild genital lymphedema in the remaining patient has remained stable during 10 years of followup., Conclusions: Congenital lymphedema of the genitalia is a challenging problem. Recurrences requiring multiple operations are common. We recommend expectant management of mild cases. In more severe cases excision without grafting should be attempted. While skin grafting may be the most definitive solution, it does not prevent recurrence in adjacent regions, and it carries the risk of skin contraction. Skin grafts should only be used when other techniques have failed.

Congenital seminal vesicle cysts associated with ipsilateral renal agenesis or dysplasia are rare malformations. Even though they are more often diagnosed today due to the introduction of advanced, sectional imaging techniques as CT and MRI, no reliable data about the prevalence of this malformation are available. This study reports seven consecutive cases, with long-term follow-up in five cases (26-119 months, mean 52 months). All patients underwent sonography, excretory urography, CT and MRI. Only two of seven patients presented nonspecific symptoms of the lower urinary tract; five were asymptomatic. In all cases sonography revealed the cystic character of the retrovesical enlargement. The anatomy of the lower pelvis was most accurately shown on MRI, which depicted the ectopic insertion of the ureter into the seminal vesicle in five cases. Cysts demonstrated high signal intensities in T1- and T2-weighted spin-echo images. In five cases the CT density was over 40 HU. Whereas one patient (15 years) presented significant enlargement of the cysts 10 years after primary diagnosis with compression of the urinary bladder, four patients showed no changes of their malformation in the follow-up examinations. The present data therefore support the concept of treating only symptomatic patients.

Seminal vesicle cysts with ureteral ectopy and ipsilateral renal agenesis or dysplasia are rare congenital malformations. This study reports 7 consecutive cases in a single center and, for the first time in the literature, reports long-term results on 5 cases. Patients were between the age of 15 and 57 years. The malformation was diagnosed in all cases with excretory urography, computed tomography, magnetic resonance imaging and cystoscopy. 5 patients were followed after diagnosis for 26 to 119 months (mean 52 months). Only 2 of 7 patients primarily presented with nonspecific lower urinary tract symptoms. One patient (15 years old) showed significant enlargement of the cysts with compression of the urinary bladder and signs of urinary incontinence 10 years after primary diagnosis. The other 4 patients had no changes of their malformation. In conclusion, seminal vesicle cysts with ipsilateral renal agenesis are now more frequently diagnosed because of the increasing use of sectional imaging procedures. They are mostly asymptomatic and their morphology does not change with time. These data support the concept of only treating symptomatic patients.

A 26-year-old man presented bilateral cysts of the vesicles, larger on the right side, associated with agenesis of right kidney and ureter. Surgical treatment consisted of removal of the right cyst and volume reduction of the left one. The embryological aspects are discussed, together with the clinical findings and the treatment options.

The genetic background of congenital bilateral aplasia of vas deferens (CBAVD) was studied. Eight patients from Ukraine were enrolled in our study. In each case, the clinical diagnosis of CBAVD was confirmed by testicular biopsy. None of patients had other clinical features of CF except high level of sweet Cl. Individuals underwent genetic screening for mutations in CFTR gene. Genomic DNA from six individuals was analysed for the 9 mutations and from two patients for the 20 most common CF mutations in European population. In 3 patients, the mutation identified was delF508 and in 3 patients was found to have the R117H mutation (in all cases one mutation per individual only). Our results confirmed hypothesis that isolated CBAVD is incomplete (genital) form of cystic fibrosis.

We report 2 recent cases of midline cysts of the genitoperineal raphe in children, and discuss the embryogenesis, diagnosis and management. Congenital anomalies of an unclear etiology, median raphe cysts are probably more common than has been reported in the literature. Medical attention is usually sought for secondary infections or pain with intercourse. Awareness and prompt identification of these entities by urologists are essential for proper management when differentiation from other more formidable lesions, including urethral diverticula, becomes important. Simple surgical excision is effective in most cases.

Description of a clinical case diagnosed in the first hours of life in apparently well newborn. Diagnostic suspicion by palpation and transillumination. Absence of any subjective sign. Inspective symptom the light scrotal swelling. The neonate received an immediate surgical exploration with subsequent orchiectomy.

Congenital rupture of the scrotum caused by meconium peritonitis occurred in a newborn with clinical findings of the Beckwith-Wiedemann syndrome. Ruptured omphalocele and jejunal atresia were present. Surgical repair 3 hours after birth was successful.

Thirteen cases of congenital seminal vesicle cysts with pathologic correlation were diagnosed between 1970 and 1988. Twelve of the 13 patients had ipsilateral renal anomalies. Intravenous urography, performed in 11 of the 13 patients, demonstrated associated renal anomalies. Computed tomography, performed in nine of the 13 patients, demonstrated associated renal anomalies and displayed the cystic seminal vesicles. Transabdominal or endorectal ultrasonography, performed in eight patients, allowed characterization of the seminal vesicle masses as cystic. Magnetic resonance imaging, performed in three of the 13 patients, accurately demonstrated dilated ejaculatory ducts into which ectopic ureters inserted. The fluid in the seminal vesicle cysts had an increased signal intensity on T1- and T2-weighted sequences. Seminal vesiculographic study demonstrated anomalous communications with the seminal tract. Cystic disease of the seminal vesicles can be either congenital or acquired; congenital cysts are associated with anomalies of the ipsilateral mesonephric duct.