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Unilateral pseudo prune belly syndrome (PPBS) is a rare variant with only two other cases found in the main literature until. We present a 9-month old boy with left-sided lax abdominal wall, undescended testes and major vesicoureteric reflux involving only the left side. He underwent left orchidopexy and left end ureterostomy followed by left nephrectomy. Unilateral variant supports the theory of mesodermal arrest as a cause for prune belly syndrome. Treatment is individualised and prognosis is relatively better when compared with other variants of PPBS., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2020. No commercial re-use. See rights and permissions. Published by BMJ.)

We present a video of our technique for resection of a large prostatic utricle (PU) in a patient who presented initially with disordered sexual development. His karyotype was 46XY, and phenotypically had penoscrotal hypospadias, bifid scrotum, and retractile right testis. An initial micturating cystourethrogram (MCUG) demonstrated the utricle but failed to cannulate the bladder. Being asymptomatic, we carried out staged repair of his hypospadias. Later, he started to have recurrent epididymo-orchitis with resistance to multiple antibiotics. Examination under anaesthesia was done and ruled out meatal or neo-urethral strictures. A subsequent MCUG demonstrated the large utricle and its relation to the bladder. We carried out a cystoscopic-assisted laparoscopic excision. There has been no consensus about the best surgical approach to resect a PU and most known procedures involved extensive pelvic dissection and carried a significant risk of damage to the pelvic nerves. The laparoscopic approach seems to be promising in this field as it provides proper view of the deep pelvis with reasonable magnification, less dissection and shorter postoperative pain and scarring. Cystoscopic assistance in this technique was a great addition to provide counter-traction movement and facilitate proper dissection., (Copyright © 2017 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.)

Hypospadias is a frequent congenital malformation, which severity is connected to the spongiosum divergence. Biological and anatomical explorations are necessary, before the recourse to the surgeon, in posterior hypospadias, familial hypospadias, but also in any type of hypospadias associated with cryptorchidism, bifid scrotum, micropenis less than 20mm (full-term newborn), or any other anomaly (skeletal, renal, cardiac…). The "mini-puberty", occurring in the first 4-6 months of life, is a period of intense gonadotropic activity in male newborns. It allows an easy investigation of the testicular function in boys with hypospadias. Hormonal evaluation (testosterone, AMH) should be done the first day of life. Let us remind that a newborn with "hypospadias" and bilateral cryptorchidism must be considered, until proved otherwise, as a girl with congenital adrenal hyperplasia., (Copyright © 2013 Elsevier Masson SAS. All rights reserved.)

Trisomy 13 or Patau syndrome (PS) is a chromosomal disorder characterized by a well known presentation of multiple congenital anomalies. Our objective was to determine the clinical features and prognosis observed in a sample of patients with PS. The series was composed of patients with diagnosis of PS consecutively evaluated by a Clinical Genetics Service from a reference hospital of southern Brazil, in the period between 1975 and 2012. Statistical analysis was performed using PEPI program (version 4.0), with two-tailed Fisher's exact test for comparison of frequencies (P<0.05). The sample consisted of 30 patients, 60% male, median age at first evaluation of 9 days. Full trisomy of chromosome 13 was the main cytogenetic alteration (73%). The major clinical findings included: cryptorchidism (78%), abnormal auricles (77%), congenital heart defects (76%), polydactyly (63%), microphthalmia (60%) and micrognathia (50%). Four patients (13%) simultaneously had micro/anophthalmia, oral clefts and polydactyly. Some findings were only observed in our sample and included, among others, preauricular tags (10%), duplication of the hallux (3%) and spots following the lines of Blaschko (3%). Mosaicism (20% of cases) had a statistically significant association only with absence of cryptorchidism. The median of survival was 26 days. Patients with and without mosaicism had similar median of survival. Our findings, in agreement with the literature, show that the anomalies in patients with PS can be quite variable, sometimes even atypical. There is no pathognomonic finding, which may make the early identification of these patients challenging., (Copyright © 2013 Wiley Periodicals, Inc.)

Variant presentations of cloacal exstrophy are exceedingly rare. Historically, genetic males with cloacal extrophy were re-assigned to the female gender due to phallic inadequacy. Early recognition of intravesical phallic structures in cloacal exstrophy cases may impact gender reassignment discussions and long-term gender outcomes. We report the case of a male infant with cloacal exstrophy presenting with an intravesical phallus, review and compare the presenting anatomical features of the three previously reported cases, and discuss the potential impact of these findings on gender reassignment in these complex children., (Copyright © 2011 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.)

We describe a newborn girl with multiple congenital anomalies and abnormal phenotype comprising underdeveloped corpus callosum with ventriculomegaly, chorioretinal atrophy, pulmonary arterial hypertension, annular pancreas, horseshoe kidney, asymmetric limb and chest anomalies, spinal segmentation defects, hypertrichosis, and unusual face with large anterior fontanel, high anterior hairline, broad forehead, mildly underdeveloped midface, hypertelorism, depressed nasal bridge, short and upturned nose, large mouth, retrognathia, and large and malformed ears. Work-up included cytogenetic studies of lymphocytes and skin fibroblasts, subtelomere Multiplex Ligation-dependent Probe Amplification (MLPA), whole-genome oligo-array, and molecular analysis of SETBP1 and NSDHL: no abnormalities were found. Mucopolysaccharide urinary excretion was elevated. Results of metabolic studies for sterol and peroxisomal abnormalities in fibroblasts were normal. Additional electronic microscopy studies in skin fibroblasts did not show evidence for storage in fibroblasts or lysosomal changes. Nosologic considerations allowed exclusion of Schinzel-Giedion and Urioste syndrome. This condition seems not to have been described before; a segregating Mendelian mutation is assumed., (Copyright © 2011 Wiley Periodicals, Inc.)

To report on a case of a progressively enlarging intrahepatic cyst in a 1-year-old boy who also presented with bilateral undescended testes. At surgery, the lesion emerged from the anterior surface of the liver but was unexpectedly found to arise from the epididymis of the right testis, which was located intra-abdominally. The histologic findings were consistent with a paratesticular cyst of vestigial remnants derived from the Wolffian duct. Such an unusual event has not been previously reported among the possible location of a paratesticular cyst, nor has it been described in the differential diagnosis of cystic lesions of the liver., (Copyright © 2012 Elsevier Inc. All rights reserved.)

In this report we present two brothers with abnormal neurological development, hypotonia, short stature, pylorus stenosis, pectus excavatum, brachycephaly due to craniosynostosis, frontal bossing, depressed nasal bridge, high arched-wide palate, downslant palpebral fissures, low-set, large ears, thin upper lip and bilateral cryptorchidism. The brothers were born to a couple of second cousins and were the third and fourth pregnancies of the mother. The father, the mother and the eldest sibling were phenotypically and chromosomally normal. The clinical findings of the brothers were found to be similar. These clinical findings were compared with syndromes showing some of the symptoms, namely Apert, FG, Floating-Harbor, Shprintzen-Goldberg and Rett Syndromes. However, when the findings were detailed, we observed that they did not match completely any of the syndromes in a discernable way. The MECP2 gene mutation was analysed because of mental retardation, poor neurological evolution and large ears, but no mutation was found. So these cases are presented as a new syndrome with apparent autosomal recessive inheritance.

We describe the clinical characteristics of 4 singleton cases, 3 males and 1 female, with Myhre Syndrome (OMIM 139210), who were born to non-consanguineous parents. Three cases had no family history of similarly affected individuals but 1 male's mother had short stature, some facial features suggestive of Myhre syndrome and evidence of skewed X-chromosome inactivation in her blood DNA. Short stature, deafness, learning difficulties, skeletal anomalies and facial dysmorphisms were evident in all cases. Arthralgia and stiff joints with limited movement were also present. The facial appearance, thickened skin, a 'muscular' habitus are memorable features. The female patient was least affected: this patient and one affected male displayed streaky skin with areas of patchy thickening, suggestive of genetic mosaicism. One patient developed sleep apnoea, a restrictive ventilatory defect and died following a choking episode. Another affected male developed recurrent, progressive, proximal, tracheal stenosis requiring partial tracheal resection, laser treatment and eventually tracheotomy. Review of Myhre syndrome patients in the literature and syndromes in the differential diagnosis, suggests heterogeneity in Myhre syndrome and clinical overlap with Laryngotracheal stenosis, Arthropathy, Prognathism and Short stature syndrome., (Copyright © 2011 Elsevier Masson SAS. All rights reserved.)

Splenogonadal fusion is a rare congenital malformation characterized by intrauterine fusion of the spleen and gonad. We present a 13-year-old boy referred to our clinic, with left scrotal mass and impalpable testis on the right. The scrotal mass was diagnosed histologically as discontinuous-type splenogonadal fusion and intra-abdominal displaced right testis as germ cell aplasia (Sertoli cell only)., (2010 Elsevier Inc. All rights reserved.)

We describe a case of congenital segmental giant megaureter in a boy that presented as a fetal abdominal mass. He also had bilateral undescended testes, bilateral vesicoureteral reflux, and segmental aniridia. He presented with hypoglycemia in the neonatal period that resolved. Postnatal magnetic resonance imaging, voiding cystourethrography and radionuclide imaging established the diagnosis, and a ureteroureterostomy was performed at 12 months., (Copyright 2010. Published by Elsevier Inc.)

Polyorchidism is a rare diagnosis. When recovered, it is frequently found in combination with other urologic pathologies. We report the case of a 14-month-old child with imperforate anus who was found to have polyorchia during repair of his inguinal hernia. Although cryptorchidism is not an uncommon finding in patients with imperforate anus, polyorchidism has never been reported. This is an unusual presentation of a rare entity.

A 10-month-old male infant presented with bilateral inguinal hernia and left un-descended testis. During right herniotomy, both gonads were found on same side with mullerian duct structures. On naked eye examination, both gonads were normal looking. Excision of mullerian duct remnant and fixation of ectopic testis was made. Histopathological examination revealed that gonads were testicles. Presence of multiple granulomas composed of Langhans cells and epithelioid cells in ectopic testicle suggested tuberculosis. Patient was kept on antituberculous therapy and was on regular follow-up without any complication.

Purpose: The FG syndrome, also known as Opitz-Kaveggia syndrome, is an X-linked disorder characterized by developmental delay, congenital hypotonia, characteristic facial appearance, relative macrocephaly and anomalies affecting the genitourinary, gastrointestinal and musculoskeletal systems. Genitourinary abnormalities in the FG syndrome include cryptorchidism, hypospadias, inguinal hernia, hydrocele and occasional anomalies of renal or ureteral development. To our knowledge no previous study has systematically evaluated the genitourinary aspects of the disorder. We describe the genitourinary anomalies seen in children with the FG syndrome. This report may help elucidate the pathogenic mechanisms responsible for the disorder. Also, we provide a simple checklist for urologists that will help guide referrals for genetics and other specialty consultations., Materials and Methods: We retrospectively reviewed 228 patients with the FG syndrome to identify the frequency of characteristic historical and physical findings. These patients were diagnosed on the basis of a firsthand history and physical examination, or by a careful outside evaluation including detailed records and photographs., Results: Of the patients 90% were male. The overall incidence of any genitourinary anomaly was 48.5% in boys, 13.6% in girls and 44.7% overall. In boys the most common abnormalities were cryptorchidism (24%), hypospadias (14%) and hernia or hydrocele (13%)., Conclusions: The FG syndrome is a disorder with a greater prevalence than previously thought, yet is rarely suspected by urologists. The manifestations may be complex. Identification of patients with syndromal genitourinary anomalies by urologists will enhance the quality of care based on referral of patients for additional evaluation.

Faciogenital dysplasia, also known as Aarskog-Scott syndrome (AAS), is an X-linked dominant congenital disorder characterized by multiple facial, musculoskeletal, dental, neurological and urogenital abnormalities, ocular manifestations, congenital heart defects, low IQ and behavioral problems. Here we describe an unusual presentation of dysplastic carotid artery, basilar artery malformation or occlusion and posterior circulation aneurysm in a 13-year-old male with AAS.

Objectives: To assess, in a retrospective study, the outcome of different treatment modalities in newborns with undescended testes secondary to large abdominal wall or diaphragmatic defects. Large abdominal and diaphragmatic defects are known to be associated with cryptorchidism, yet the reported incidence varies widely., Methods: A total of 112 neonates with large abdominal wall or diaphragmatic defects were treated from 1981 to 2005. Of the 55 male patients in this series, 9 (16.4%) presented with abdominal testes and 4 had an extra-abdominal testis (7.3%)., Results: The 2 patients undergoing primary orchiopexy had testes of normal size and in the normal position at last follow-up. In one of these patients in whom the testis was brought down to the internal inguinal ring, spontaneous descent occurred and the testis on the affected side was normal. The other patient required additional surgery and had an atrophic testis at last follow-up. In 1 patient with severe concomitant malformations, primary orchiectomy was performed. The 4 patients who did not receive initial treatment all lost their testes owing to atrophy., Conclusions: The results of the present study have indicated that primary orchiopexy should be attempted in all cases of abdominal wall defects associated with abdominal cryptorchid testes because it yields better testicular salvage rates. In cases in which the spermatic cord is not long enough to place the testis into the scrotum, mobilization and fixation at the lowest site possible resulted in better outcomes than leaving the testis in the abdomen.

This study considers a unilateral renal agenesia associated with agenesia of the epididymis body and tail and the vas deferens and non-palpable left testicle in a 20-month-year-old patient. During laparoscopic procedure, the testicle was positioned at approximately 5 cm above the inguinal ring. The size was appropriate for the age and the head of the epididymis was situated in its normal position. The decision was made to perform the first step of the Fowler-Stephens' surgery and the patient presented a good evolution. The association of male duct system agenesia with unilateral renal agenesia in a patient with cryptorchidism diagnosed by laparoscopy is an extremely rare event, however generally in these cases the testicle is of normal size, presents unaltered hormonal function, and must be preserved.

Intrachromosomal insertions are uncommon rearrangements, in which a chromosomal segment is intercalated into another part of the same chromosome. The insertion may occur in the same arm (paracentric) or in the other arm (pericentric). The cytogenetic recognition of these structurally rearranged chromosomes can be difficult, and intrachromosomal insertions can be easily mistaken for inversions. We describe a case of a familial pericentric insertion of chromosome 20, initially misdiagnosed as a pericentric inversion in the healthy carrier and then reinterpreted as insertion in an abnormal child with a recombinant chromosome. Fluorescence in situ hybridization (FISH) allowed us to confirm the mechanism of recombinant formation and to locate the three breakpoints precisely. Our cytogenetically unbalanced epileptic patient carried a 20q deletion and 20p duplication, and the genes, CHRNA4 and KCNQ2 that have been implicated in autosomal dominant epilepsy, were deleted. The haplo-insufficiency of these two genes may contribute to the cause of epilepsy in patients with ring chromosome 20.

We report on a 3-year-old boy with circumferential skin creases as seen in Michelin tire baby syndrome (MTBS), hearing impairment, undescended testes, short stature, and mental handicap. Skin biopsy from the inguinal region showed degenerative collagen, which has never been found in MTBS. Similar clinical manifestations shared by our patient and a boy reported previously suggest a new clinical entity, in which degenerative collagen is etiologically involved. We propose an acronym to designate it: hearing impairment, undescended testis, circumferential skin creases, and mental handicap (HITCH) syndrome., (Copyright 2003 Wiley-Liss, Inc.)

We describe two brothers with Borjeson-Forssman-Lehmann syndrome and the 22A-->T (Lys8X) PHF6 mutation, who presented with the symptoms and signs of multiple pituitary hormone deficiency. Biochemical investigations and radiology confirmed growth hormone (GH), thyroid stimulating hormone (TSH) and adrenocorticotrophic hormone (ACTH) as well as gonadotrophin deficiency. They were also found to have optic nerve hypoplasia. This family suggests that the BFL gene product may play an important role in midline neuro-development including the hypothalamo-pituitary axis.

We describe the case of a newborn infant with duplication of the testis and absence of the contralateral testis. The patient also had bilateral indirect inguinal hernias and an ipsilateral undescended testicle.

Gall bladder agenesis is a rare congenital biliary anomaly that may be associated with other biliary and extrabiliary congenital anomalies. We report the association of gall bladder agenesis with pancreas divisum and undescended testes.

A 4-month-old infant presenting with bilateral popliteal pterygion syndrome, a seldom pathology, is reported. Bilateral cheiloplasty was performed in one stage and palatoplasty with pharyngoplasty through transposition of rear pillars. Thrice operated the pterygium area in order to stretch out the legs, but remaining 30% limitation. In regard to etiology the teratogenic effect of free radicals, issued from malnutrition, tobacconism and weed-killers, is contemplate all those factors breaking partly the H linkages joining together the two chains of genetic messenger, the DNA. So are originated the mistake on the blastogenesis with the issuing malformations.

The authors report a rare case of persistent mullerian duct syndrome (PMDS) with transverse testicular ectopia and inguinal hernia in a 2-year-old child with family history for this syndrome. At operation the observation of a very long and thin gubernaculum and extreme mobility of both testes and uterus, which are located in the same hernial sac, allowed the Authors to propose a hypothesis to explain the role of MIF (Mullerian Inhibiting Factor) in testicular descent. Patients with PMDS present a normal outgrowth and migration phases of the gubernaculum but lack of the gubernacular regression phase. These data suggest an important function of the MIF in this phase of testicular descent.

Exstrophy-epispadias complex has been a difficult disease to treat. As in the minds of the public and most physicians alike, these children are crippled with life-long ailments and multiple operations. Much of the morbidity of this condition relates to failure to preserve urogenital tract function in these children. In recent years, through better understanding of the exstrophic anatomy and improved surgical techniques, complete repair of the exstrophic anomaly has become possible as soon as the child is born. Results of such closure indicate that such repair is not only feasible but mandatory for a successful outcome. Continence rate and cosmetic appearance are superior to the conventional 3-stage technique. Such repair is also socially acceptable as the parents will bring home a normal-looking baby with much fewer operations expected in the future. It is anticipated that complete one-stage exstrophy closure in the newborn period will revolutionize the outcome of all exstrophy patients.

In 1983, a chromosome analysis was carried out in a newborn preterm infant with minor anomalies (preauricular skin tag, maldescensus testis). All analysed metaphases showed a small extra chromosome, which was symmetric, dicentric and bi-satellited. In spite of in depth analysis, its origin remained obscure. Recent re-evaluation using fluorescence in situ hybridization (FISH) led to the diagnosis of a dicentric chromosome 22. The FISH technique is an important new tool in chromosome diagnostics. The phenotype of this infant only vaguely resembles the cat eye syndrome. The syndrome should be diagnosed clinically and not only based on the results of chromosome analysis.

A 15-year-old boy had suffered burning of both palms and all fingers during his 2nd year of life. Epitheliazation of the lesions did not occur. In his 6th year, erythema, desquamation and erosion-like alterations appeared spontaneously on the soles of both feet and on the plantar sides of the toes. These alterations were similar to those on the hands. Histologically the lesion on the right sole was covered with a very thin horny layer and thin epidermis. The cells of the epidermis had clear cytoplasm and probably derived from the ductal epithelium of the sweat glands. Under the atrophic epidermis, granulation tissue consisting of lymphocytes, plasma cells, histiocytes, and a few polynuclear cells and eosinophils was seen. The following symptoms were still present in the boy: dys- and hypotrichosis, oligodontia, enamel and dentin hypoplasia, cleft palate and uvula, concomitants strabismus (left eye), and cryptorchidism. Transplantation of the patient's skin from the right thigh to the lesion on the right sole was tried. The authors postulate a previously unreported form of ecto-mesodermal dysplasia in this case.

Cryptorchidism is the most common disorder of sexual differentiation in male children, with an incidence of 3.4 per cent in the term newborn, decreasing to 0.8 per cent at 1 year of age. The mechanisms of normal testicular descent are multifactorial and include an intact hypothalamic-pituitary-testicular axis, as well as a normal gubernaculum and epididymis. In boys with cryptorchidism, the testes demonstrate degenerative changes histologically as early as 1 to 2 years of age. Both testes may be affected, even with a unilateral undescended testis. The most important long-term complications of cryptorchidism include infertility and testicular cancer. The risk of malignancy is approximately 40 times higher in male subjects with cryptorchidism than in normal men, and is highest in male subjects who have had an intra-abdominal testis and in certain intersex conditions. Orchiopexy does not appear to lessen this risk. Hormonal therapy with HCG or LH-RH has remained unproven in clinical trials in the United States; therefore, orchiopexy remains standard treatment. HCG is recommended if the clinician suspects that a testis is retractile, however. Orchiopexy should be performed between 12 and 18 months of age to prevent the degenerative changes that are demonstrable by 2 years.

We reviewed 334 patients with cryptorchidism treated at our institution during a 13-year period. Other congenital anomalies were apparent on physical examination in 102 cases and these were more common in patients with bilateral cryptorchidism. Of the 205 excretory urograms done 25 showed abnormalities and, again, these abnormalities were noted more commonly in patients with bilateral cryptorchidism. Of 232 patients with asymptomatic cryptorchidism, that is with no other congenital findings on physical examination, 141 had an excretory urogram and 4 revealed some abnormality, 2 of these warranting surgical intervention. Of the 334 patients 16 had hypospadias and 50 were mentally retarded. The literature is reviewed. It is concluded that an excretory urogram is not justified on a routine basis in patients with asymptomatic cryptorchidism.