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Paediatric urology covers all aspects of urological care in children. Many conditions are specific to children and, although there is some crossover with adult urology, diagnosis and management can be significantly different. Paediatric urology is increasingly undertaken in tertiary centres and many adult urologists will only deal with basic paediatric urology in their practice. A broad knowledge of the topic, however, and the implications on development and adult presentations is essential. This article will covers all the relevant topics for a broad understanding of paediatric urology, antenatal hydronephrosis including pelvi-ureteric junction obstruction, vesico-ureteric reflux and megaureter, posterior urethral valves, urinary tract infection, incontinence, undescended testis, hypospadias, hydrocoele, phimosis, the acute scrotum, disorders of sexual development and bladder extrophy and epispadias. [ABSTRACT FROM AUTHOR]

We aimed to identify the challenges in the management of sexual development abnormalities in a low-resource country. The study was retrospective from January 2000 to December 2017 based on patient records from two pediatric surgery departments. Epidemiological, clinical, paraclinical, treatment, and outcome data were studied. We collected data on 13 patients (average age = 7.95 years). The sex of rearing was as follows: three females (23%), 10 males (77%). Atypical genitalia other than hypospadias represented the reason for consultation in 92% of the cases. We could not find complete hormonal analyses; testosterone levels were studied in 69.23% of cases. We found the following disorders of sexual development (DSD): four patients with 46,XX karyotype (30.77%), eight patients with 46,XY karyotype (61.53%), and one patient with 46,XX/XY karyotype. Four patients had medical treatment only, four had surgical treatment only, and one patient had medical and surgical treatment. The medical treatment comprised topical administration of androgen. The surgical treatment consisted of feminizing genitoplasty for one patient and masculinizing genital surgeries for two patients. Six of the 13 patients were lost to follow-up. The socioeconomic difficulties of the population and the lack of access to basic diagnostic and paraclinical methods, coupled with the negative cultural representations of the pathology, constitute the challenges in the management of DSD in our practice. [ABSTRACT FROM AUTHOR]

Differences of sex development (DSD) are congenital conditions in which there is atypical chromosomal, gonadal and/or phenotypic sex. A phenotype of severe genital atypia in patients raised as male is a relatively rare occurrence and standards for management are lacking. Decision making for early surgical planning in these rare cases includes, but is not limited to, degree of atypia, location of testes, and presence of Mϋllerian remnants. In this study we describe surgical approaches and short-term outcomes for masculinizing genitoplasty in moderate to severe genital atypia in young patients raised male, for whom parents opted for early surgery. This NIH-sponsored study is an ongoing, observational, multicenter investigation assessing medical, surgical and psychological outcomes in children and their parents affected by atypical genitalia due to DSD. Participants were prospectively enrolled from 12 children's hospitals across the United States that specialize in DSD care. Criteria for child enrollment were a Quigley score of 3–6 in those with a 46, XY or 45,X/46, XY chromosome complement, age <3 years with no previous genitoplasty; patients were included independent of whether genitoplasty was performed. Cosmesis was graded according to a 4-point Likert scale and complications per the Clavian-Dindo classification. Of the 31 participants, 30 underwent hypospadias repair and 1 patient did not undergo a genitoplasty procedure. The majority of participants (22) received a staged hypospadias repair. Seventeen complications were identified in 12 of the 31 children (41%) at 12 months of follow up. Glans dehiscence and urethrocutaneous fistula were the most common complications. Orchiopexy was performed in 14 (44%) and streak gonads were removed in 4 (13%) participants. Both parents and surgeons reported improved cosmesis after surgery when compared to baseline. Genitoplasty was chosen by parents for the majority of children eligible for study. No single surgical approach for masculinizing moderate to severe genital ambiguity in young patients with 46, XY or 45,X/46, XY DSD was adopted by all surgeons. Complications occurred in 41% of those who underwent genitoplasty for severe hypospadias. Overall, appearance of the genitals, as determined by parents and surgeons, improved following genitoplasty. Outcomes of early genitoplasty are needed to guide families when making decisions about such procedures for their young children. [Display omitted] [ABSTRACT FROM AUTHOR]

A multidisciplinary DSD clinic offers the opportunity for different specialties to learn from each other, as each provides their own perspective and expertise to the management of these complex patients, leading to collaborative care. For the patient, a multi-disciplinary clinic can improve access to care and decrease stress, as patients see all of the specialists on one day. For urologists seeing patients with DSD within a multi-disciplinary DSD clinic as well as independently, understanding what other specialists provide can help facilitate care and referral. Medical genetics is part of a multi-disciplinary DSD clinic. Given the recent advances in genetic diagnostics, many of the offered tests may be less familiar to the pediatric urologist. Therefore, this conversation reviews the clinical presentations and genetic testing options including chromosomal microarray, genetic testing panel, whole exome sequencing, and whole genome sequencing and how these can be helpful in the diagnosis and management of patients with DSD conditions. [ABSTRACT FROM AUTHOR]

• PMDS is a rare, autosomal recessive sexual development abnormality characterized by the coexistence of Mullerian derivatives in a male phenotype and genotype patient. • Can be identified during the surgery of cryptorchidism, and more rarely by an ectopic testicular degeneration. • The PMDS has a good prognosis despite the increased risk of infertility as well as testicular and Mullerian degeneration. • The treatment requires a multidisciplinary approach. Persistent Mullerian duct syndrome is a rare form of pseudohermaphroditism, possibly resulting from the absence of Mullerian duct inhibiting factor. We report the case of a 36 year-old patient with a syndrome of persistent Müllerian ducts (PMDS) of the female type. The Clinical examination revealed avacant scrotum, a normal penis. The spermogram analysis found azoospermia. Imaging using ultrasound and tomotensidometry found the presence of amass in the back of bladder. A Laparoscopic exploration revealed two slightly enlarged testicles, in a pelvic situation intimately confined to a rudimentary uterus with two tubes. The histological examination was in favor of a uterine endometrium and two fallopian tubes. The karyotype requested later was male 46 XY. Since the first case, between 200 and 262 cases have been reported in literature around the world, this might reveal that the incidence and prevalence of this type of diseases are not well-estimated. The diagnosis is often a fortuitous discovery during a cryptorchidism surgery or inguinal hernia, more rarely during the management of a state of infertility or the degenerescence of the testis or Mullerian derivative. It is caused by either the anti-Mullerian hormone deficiency (AMH) or a dysfunction of its receptor. A multidisciplinary approach is necessary for surgical management. long-term prognosis is favorable, though fertility seem to be decreased and also it might lead to a riskiness of malignancy owing to cryptorchidism and preserved Mullerian remants. [ABSTRACT FROM AUTHOR]

In this report, we aim to define the different degrees of structural abnormality affecting the female genitalia in cases of CAH by using the multiplanar capabilities and high soft tissue resolution of MRI. The study included cases of CAH who were referred to our pediatric surgical facility for genital reconstruction during the period 2016 through 2019. We studied the pelvic MRI anatomy in cases of CAH while referring to clinical and operative findings. To set up a grading scale for the degree of virilization in cases of CAH, we included another two control groups of normal boys and girls representing the two ends of the spectrum. The study included 23 cases of CAH who underwent preoperative pelvic MRI examination. All cases had normal chromosomal analysis (46 XX). Their age ranged from 1 to 156 months at time of MRI examination (mean 42.4; median 25). The level of the lower end of the vagina was identified in midsagittal T2WI and confirmed in sequential axial cuts. Based on the level of the lower end of the vagina in relation to the pubic symphysis, we classified cases of CAH into either low or high types. Moreover, we could observe a correlation between the degree of vaginal descent and structural transformation of erectile tissue between both genders. MRI can have an important role in the evaluation of cases of CAH by displaying the severity of internal anomaly which is crucial for proper preoperative counseling. Case control study. Level III. [ABSTRACT FROM AUTHOR]

In this case series, contrast enhanced genitosonography is compared to genitography performed using fluoroscopy and cone-beam computed tomography in patients with urogenital sinus and the cloacal malformation. The method of contrast enhanced genitosonography is described, including contrast preparation, contrast administration, ultrasound imaging approaches, as well as the benefits and potential pitfalls of this technique compared to fluoroscopy and computed tomography. [ABSTRACT FROM AUTHOR]

Abstract The transition from adolescence to young adulthood in patients with reproductive health care needs such as disorders of sexual development and congenital anomalies is a complex process that occurs over several years. The transition process for these patients is still poorly understood. The patients with disorders of sexual development and reproductive issues have specific and unique issues regarding timing of disclosure of diagnosis, genital examinations, gonadectomy, vaginal treatments, surgical procedures, hormone replacement therapy, use of long-term medication, and potential cancer screening. The purpose of this review is to briefly describe complex genital malformations and their associated anomalies with long-term concerns and then provide an overview of what has been published at this time regarding the transition of care to provide some guidance for providers who care for those patients. [ABSTRACT FROM AUTHOR]

Abstract Background Ovotesticular disorders of sex development is a condition defined as the presence of ovarian tissue containing ovarian follicles and testicular tissue containing seminiferous tubules in the same individual. Case We report on a 19-year-old who is phenotypically male, with a 46,XX/46,XY mosaicism karyotype, who presented later in life with cyclical abdominal pain that resembled menstrual cramps and unilateral undescended testes. Summary and Conclusion He underwent laparoscopic hysterectomy and right salpingo-oophorectomy, resulting in cessation of his symptoms and improved sperm count. [ABSTRACT FROM AUTHOR]

Abstract Study Objective To describe the presentation, diagnosis, management, and short-term outcome of children with disorders of sexual development (DSD) in the context of multidisciplinary team care. Design Prospective descriptive study. Setting University Teaching Hospital. Participants All children who presented with genital ambiguity. Interventions and Main Outcome Measures Records of all patients diagnosed and managed for DSD between January 2011 and December 2016 were reviewed. The care pathway included clinical, laboratory, internal genitalia evaluation, and panel (including parents) meeting. Results Fifteen children presented with DSD at a median age of 20 months. Only 5/15 (33.3%) presented in the neonatal period. Ten of fifteen patients (66.7%) presented with genital ambiguity. Ovotesticular DSD was the most common diagnosis (9/15; 60%). Seven of the patients were genetically female (46, XX), 1 was genetically male (46, XY) and 1 without genetic diagnosis. Six patients were assigned male gender and they underwent male genitoplasty. Five of them had excision of Müllerian structures with gonadectomy. Three of fifteen patients (20%) were diagnosed as 46, XX DSD, at a median age of 7 years. All of them were due to congenital adrenal hyperplasia and underwent female genitoplasty. Two patients were diagnosed as XY, DSD. They were both raised as female at presentation and were reassigned male sex. Both had urethroplasty done. Four patients had postoperative urethrocutaneous fistula and 1 had partial wound dehiscence. The median follow-up period was 21 months (interquartile range, 2-26 months). Conclusion The frequency of ovotesticular DSD is high in our setting. The decision of sex assignment was finally made at a median age of 7.5 months in most of our patients with satisfactory short-term surgical outcome. [ABSTRACT FROM AUTHOR]

Disorders of sexual development (DSD) are a rare but disastrous condition. A plethora of biological, psychological, and ethical problems surround the management of DSD cases. A case of 25-year-old woman with a complaint of primary amenorrhea was presented. She wanted to be examined as she had planned to be married. However, examinations revealed that she had 46, XY karyotype, complete androgen insensitivity syndrome, and vaginal agenesis. After several family meetings, the patient, her family, and her partner decided that she would remain as a woman despite the results. Disorders of sexual development are not only about the biological complexities, but also the psychological, social, and ethical dilemmas faced by both the patient and clinicians. A coordinated care team plays a crucial role in addressing the unique challenges presented by DSD, particularly for those diagnosed later in life. Comprehensive and multidisciplinary approach is essential for managing DSD patients. • Disorders of sexual development (DSD) cases require complex diagnosis and multidisciplinary approach. • The late diagnosis of DSD is associated with a myriad of biological, psychological, and social problems. • Surgical and hormonal interventions regiment and timing remain a topic of debate for clinicians. [ABSTRACT FROM AUTHOR]

Objective: To report sexual orientation, relationship status and medical history of Iranian people with Differences of Sex Development (DSD) who were raised female.Methods: Our participants consisted of nineteen 46,XY individuals with Complete Androgen Insensitivity Syndrome (CAIS) and eighteen 46,XX individuals with Congenital Adrenal Hyperplasia (CAH) who were raised as females and older than 13years. As well as their relationship status and detailed medical history, an expert psychiatrist assessed their sexual orientation by a semi-structured psychiatric interview with them and, where applicable, their parents.Results: Five percent of CAH participants and 42% of CAIS participants were in a relationship, which was significantly different. All CAH individuals had been diagnosed at birth; 89% of CAIS had been diagnosed after puberty and due to primary amenorrhea and 11% were diagnosed in childhood due to inguinal hernia. Genital reconstructive surgery had been performed in 100% of CAH participants and 37% of CAIS. Regarding sexual contact experiences and sexual fantasies (androphilic, gynephilic or both), no significant differences were found. However, CAH females had significantly more gynephilic dreams (P=0.045).Conclusion: This study, notable as one of the rare from a non-western culture, described sexual, medical and socioeconomic status of 46,XX CAH and 46,XY CAIS individuals living in Iran. Although broadly in line with previous findings from Western cultures, Iranian CAH individuals had fewer romantic relationships, but in contrast to previous studies their sexual orientation was only different from CAIS in the contents of sexual dreams. [ABSTRACT FROM AUTHOR]

Cytochrome P450 oxidoreductase (POR) is required for metabolic reactions of steroid and drug metabolizing cytochrome P450 proteins located in endoplasmic reticulum. Mutations in POR cause a complex set of disorders resembling combined deficiencies of multiple steroid metabolizing enzymes. The P450 oxidoreductase deficiency (PORD) was first reported in patients with symptoms of defects in steroidogenic cytochrome P450 enzymes and ambiguous genitalia, and bone malformation features resembling Antley-Bixler syndrome. POR is now classified as a separate and rare form of congenital adrenal hyperplasia (CAH), which may cause disorder of sexual development (DSD). Since the initial description of PORD in 2004, a large number of POR mutations and polymorphisms have been described. In this report we have performed computational analysis of mutations and polymorphisms in POR linked to metabolism of steroids and xenobiotics and pathology of PORD from the reported cases. The mutations in POR that were identified in patients with disruption of steroidogenesis also have severe effects on cytochrome P450 proteins involved in metabolism of drugs. Different variations in POR show a range of diverse effects on different partner proteins that are often linked to the location of the particular variants. The variations in POR that cause defective binding of co-factors always have damaging effects on all partner proteins, while the mutations causing subtle structural changes may lead to altered interaction with partner proteins and the overall effect may be different for each individual partner. Computational analysis of available sequencing data and mutation analysis shows that Japanese (R457H), Caucasian (A287P) and Turkish (399–401) populations can be linked to unique founder mutations. Other mutations identified so far were identified as rare alleles or in single isolated reports. The common polymorphism of POR is the variant A503V which can be found in about 27% of alleles in general population but there are remarkable differences among different sub populations. [ABSTRACT FROM AUTHOR]

Patients with Congenital Adrenal Hyperplasia (CAH) owing to 21-hydroxylase deficiency and whose karyotype is 46, XX are usually assigned to the female gender. Reported herein are the long term outcomes in three patients with CAH whose karyotype is 46, XX and who were reared as males. A retrospective review of three CAH patients with a 46, XX karyotype who were reared as males was conducted. Gender assignment, clinical and biochemical data, pre and post-genitoplasty genital examinations were reviewed. Gender identity was tested by an extensive questionnaire. Gender role, sexual preference, marital status and sexual satisfaction were evaluated by interview. The three patients were genotyped for the CYP21A2 gene confirming the diagnosis of CAH. Owing to genital virilization, cultural preferences for male gender and the lack of newborn screening programs the three patients reported herein were assigned to the male gender at birth before the diagnosis of CAH was established. In adulthood the patients remained significantly virilized. Thorough psychosexual assessments in adulthood revealed well established male gender identities compatible with their male gender assignments at birth. In all three patients, gender role and behavior were consistent with male gender identity including sexual intercourse with female partners. The three patients reported herein revealed that male gender assignment to CAH patients with a 46, XX karyotype may have a successful outcome providing there is strong parental support and expert endocrine care. No standard guidelines have been published for the gender assignment of CAH patients with a 46, XX karyotype and genital ambiguity. More studies concerning gender assignment in CAH patients with a 46, XX karyotype reared as males are needed. [ABSTRACT FROM AUTHOR]

The anterior sagittal trans-ano-rectal approach (ASTRA) provides excellent exposure to the urethra and vagina for partial or total urogenital sinus mobilization and subsequent reconstruction for patients with urogenital sinus anomalies. It is a frequent approach to reconstruction for children with a high confluence. However, the division of the anterior anal external sphincter and the rectal wall in the ASTRA incurs morbidity, which include fecal incontinence if one veers from the midline, and increased risk of wound infection due to fecal soilage. We demonstrate a modified technique to the ASTRA without dividing the anterior anal sphincter and rectal wall, with achievement of comparable exposure and excellent vaginal mobilization and length. [ABSTRACT FROM AUTHOR]

Androgen insensitivity syndrome (AIS) is the most common cause of 46,XY disorders of sex development (46,XY DSD). This syndrome is an X-linked inheritance disease and it is caused by mutations in the human androgen receptor ( AR ) gene. Non-synonymous point AR mutations are frequently described in this disease, including in the complete phenotype. We present a novel synonymous mutation in the human AR gene (c.1530C > T) in four 46,XY patients from two unrelated families associated with complete androgen insensitivity syndrome (CAIS). The analysis of mRNA from testis showed that synonymous AR mutation changed the natural exon 1 donor splice site, with deletion of the last 92 nucleotides of the AR exon 1 leading to a premature stop codon 12 positions ahead resulting in a truncate AR protein. Linkage analyses suggested a probable founder effect for this mutation. In conclusion, we described the first synonymous AR mutation associated with CAIS phenotype, reinforcing the disease-causing role of synonymous mutations [ABSTRACT FROM AUTHOR]

Highlights: [•] The most common cause of CAH is 21-hydroxylase deficiency. [•] CAH can cause glucocorticoid and mineralocorticoid deficiency with androgen excess. [•] CAH causes virilized external genitalia in female newborns. [•] Treatment of CAH includes optimal steroid supplementation. [•] Individuals with CAH require regular medical and psychosocial follow up. [Copyright &y& Elsevier]

Abstract: Existing outcomes for DSD individuals are inadequate because reports are based upon information collected retrospectively. This paper is presented to review existing data emphasizing information needed to lead to better future care, is based on presentations and discussions at a multi-disciplinary meeting on DSD held in Annecy in 2012, and is not intended to define the present status of management of each of the various DSD diagnoses. Rather it is intended to provide information needed to do studies regarding outcome data from the treatment of children with DSD by providing a summary of recommendations of ‘patient-centered’ topics that need investigation. The hope is that by being concerned with what is not known, new protocols will be developed for improving both early management and transition to adult life. [Copyright &y& Elsevier]

• AMH concentration in dogs with DSD is significantly higher than in sexually intact males and females. • AMH in dogs with gonadal dysgenesis can be as low as after gonadectomy. • Cryptorchid tissue does not always induce elevated AMH values. Disorders of sexual development (DSD) may have their origin in alterations of the chromosomal, gonadal or phenotypic sex. Affected animals are usually presented because of ambiguous external genitalia, seldom because of reproductive disorders. Anti-Müllerian hormone (AMH) is secreted in the gonads with higher amounts in males than in females and can be used to identify gonadal tissue in sexually normally developed dogs. The aim of this study was to examine the diagnostic potential of serum AMH to identify testicular tissue in 11 dogs with DSD. The diagnostic procedures applied were: determination of the phenotypic sex (n = 11), genital ultrasound (n = 9), determination of the SRY gene (n = 11), karyogram (n = 6), gonadectomy (n = 11), pathohistology of the gonads (n = 10), serum AMH measurement (n = 11). 39 female dogs described in a previous study and 19 male dogs with a normal spermiogram served as controls for the AMH serum concentrations in sexually intact dogs. The 11 dogs with DSD were classified as 7 XY DSD and 4 XX DSD. Presumptive testes were obtained in 10 dogs and 1 dog had an ovotestis combined with a testis. Mean serum AMH values of the dogs with DSD were significantly higher (P < 0.001) than in male and female controls. The upper limit of the AMH test (≥ 23ng/ml) was reached in 6 dogs. High AMH concentrations have been described previously in cryptorchid dogs. 1 dog with a male phenotype and 2 with a female phenotype had AMH values within the range of the male controls, although all of them had cryptorchid testes. A Poodle, in which epididymis were identified but no definitive gonads, had an AMH concentration of the lower limit of the test (≤ 0.01 ng/ml), comparable to previously described castrated dogs. This study indicates that serum AMH levels are a useful diagnostic tool to identify testicular tissue in dogs with DSD and suggests the possible use of AMH to diagnose testicular dysgenesis. [ABSTRACT FROM AUTHOR]

• A female patient with a classic picture of complete androgen insensitivity syndrome. • A novel mutation in the AR gene was identified by direct sequencing: p.R856L. • Functional studies were performed to investigate the functional properties of p.R856L. • p.R856L mutation strongly affected both transactivation capacity and N/C interaction. • Functional studies confirmed the pathogenicity of p.R856L mutation. Androgens are critical for male sex differentiation. Their actions are mediated by the androgen receptor (AR). Mutations disrupting AR function result in the androgen insensitivity syndrome (AIS). In this study, we identified in a patient with complete AIS, a novel AR mutation p.R856L. To investigate the functional properties of p.R856L, we performed functional studies. In comparison, we have characterized two already described mutations: p.R856H and p.R856C. We used a model composed of two different promoters fused to a reporter gene, two cell lines, and showed that all mutations were able to transactivate the (ARE) 2 -TATA promoter expressed in CHO cells more highly. Moreover, we confirmed the pathogenicity of the p.R856L and p.R856C mutations, and their associations with complete AIS. In contrast, the p.R856H mutation, which is associated with a spectrum of AIS phenotypes, showed less severe transcriptional constraints. Altogether, our studies allowed us to better characterize arginine residue at p.R856 position. [ABSTRACT FROM AUTHOR]

Summary Background Virilized females due to congenital adrenal hyperplasia represent the most common form of female disorders of sexual development. The anomaly therein is an external virilization to resemble male genitalia and a persistent urogenital sinus. Objectives To study the anatomical details of the virilized female cases operated upon between 2011 and 2015. This anatomical description is presented to support the current surgical strategy of partial urogenital mobilization to correct this anomaly. Methods Thirty cases (presenting to a single tertiary center) were prospectively studied by genitography, cysto-urethroscopy, and operated upon via a single-stage feminizing genitoplasty. A single surgical team operated upon all cases. External virilization was assessed by the Prader classification. The internal anatomy was studied by measuring the length of the urethra proximal to the confluence, and the vertical depth of the vaginal-urethral confluence from the perineum. The correlation coefficients between the external virilization and the internal anatomical measurements were derived. Results The median age at surgery was 19 months (range 6–42 months). External virilization did not obviously correlate with the length of the proximal (prejunctional) urethra ( r = −0.03, P = 0.5), or strongly with the depth of the vaginal-urethral confluence ( r = 0.2, P = 0.2). The mean length of the proximal urethra was 22 mm (range 10–32 mm), and the mean vertical depth of the vaginal-urethral confluence from the perineum was 16 mm (range 8–31 mm). Discussion Due to limitations of the radiological and endoscopic evaluation, the accurate anatomical assessment of this condition may be challenging. In order to assess or compare the anatomy of these cases, there are two important points to address: (1) the length of the urethra proximal to the urogenital sinus, as this will impact the urinary outcome; and (2) the depth (level) of vaginal entry into the urogenital sinus, as this will affect the mobilization required to exteriorize the vagina. Conclusion The degree of external virilization does not totally correlate with the internal anatomy. The depth of the vaginal-urethral confluence from the perineum is an indicator of the required mobilization for the current perineal approach. In 90% of cases in this age group (1–3 years old), this depth is ≤20 mm. This supports the current understanding that partial urogenital mobilization could be suitable for most cases Figure (Summary). Figure (Summary) Diagram illustrating the vaginal depth from the perineal level (red lines). [ABSTRACT FROM AUTHOR]

Studies estimate that the incidence of genital anomalies could be as high as 1 in 300 births. While it is rare for an infant to present with truly ambiguous genitalia, it is plausible that the pediatric nurse will encounter a patient with disorders of sexual development in his or her career. Cases of disorders of sexual development are challenging due to complexities of diagnosis, gender assignment, uncertain outcomes, treatment options, and psychosocial stressors. This article discusses the evaluation and management of children with disorders of sexual development and the nurse's role as child advocate and family educator. [ABSTRACT FROM AUTHOR]

Abstract: An 18-year-old phenotypic male presented with an irreducible left inguinal mass, gynecomastia, and hypospadias. This mass on exploration was found to be a nonfunctional uterus with ipsilateral ovary and was excised. Further investigation confirmed the presence of a contralateral testis and a genotype of 46, XX. This confirmed the diagnosis of ovotesticular disorder of sexual differentiation (formerly true hermaphroditism) with obstructed hernia uteri inguinalis. The patient was raised as a male. Subcutaneous mastectomy for gynecomastia and neourethra construction with full thickness skin graft for hypospadias were performed. Hernia uteri inguinalis is rarely seen in this condition with only 2 cases being reported worldwide thus far, including our case. [Copyright &y& Elsevier]

Objective: To report a translocation between chromosomes 3 and 4: 46,XY,t(3;4)(p25;q31.3) in a male infant with a disorder of sexual development. Design: Case report. Setting: University hospital. Patient(s): A 1-year-old infant who presented with abnormal location of the urethral meatus. Intervention(s): Cytogenetic analysis, fluorescence in situ hybridization (FISH), and serum concentrations measurement (using peripheral blood), and clinical examination. Main Outcome Measure(s): Karyotype and clinical findings. Result(s): On clinical examination, bilateral testicular volume and phallus were determined to be undersized. Serum concentrations of T and DHEAS were low. G-banding of his chromosomes showed that the patient had a balanced translocation involving chromosomes 3 and 4: 46,XY,t(3;4)(p25;q31.3). This karyotype finding was confirmed by FISH. The FISH analysis revealed the presence of sex-determining region (SRY). The proband inherited this translocation from his father. His sister had the same translocation. However, the father and sister of the proband were clinically normal. Conclusion(s): The presence of this chromosomal anomaly and hypospadias was unique to our patient compared with others with the 46,XY,t(3;4) translocation. Although no such association has been reported to date, we think that the severe hypospadias in our case might be associated with this translocation. [Copyright &y& Elsevier]