Isolated bladder exstrophy associated with a de novo 0.9 Mb microduplication on chromosome 19p13.12.

The exstrophy-epispadias complex (BEEC) is a urogenital birth defect of varying severity. The causes of the BEEC are likely to be heterogeneous, with individual environmental or genetic risk factors still being largely unknown. In this study, we aimed to identify de novo causative copy number variations (CNVs) that contribute to the BEEC. METHODS Array-based molecular karyotyping was performed to screen 110 individuals with BEEC. Promising CNVs were tested for de novo occurrence by investigating parental DNAs. Genes located in regions of rearrangements were prioritized through expression analysis in mice to be sequenced in the complete cohort, to identify high-penetrance mutations involving small sequence changes. RESULTS A de novo 0.9 Mb microduplication involving chromosomal region 19p13.12 was identified in a single patient. This region harbors 20 validated RefSeq genes, and in situ hybridization data showed specific expression of the Wiz gene in regions surrounding the cloaca and the rectum between GD 9.5 and 13.5. Sanger sequencing of the complete cohort did not reveal any pathogenic alterations affecting the coding region of WIZ. CONCLUSIONS The present study suggests chromosomal region 19p13.12 as possibly involved in the development of CBE, but further studies are needed to prove a causal relation. The spatiotemporal expression patterns determined for the genes encompassed suggest a role for Wiz in the development of the phenotype. Our mutation screening, however, could not confirm that WIZ mutations are a frequent cause of CBE, although rare mutations might be detectable in larger patient samples

Neurogenic bladder: etiology and assessment

A review of the various causes of neurologic impairment to the lower urinary tract in children was the aim of this presentation. The emphasis was on diagnosis, pathophysiology, and treatment that strive to maintain as normal a function as possible in order to achieve eventual urinary continence and health of the upper urinary tract. The latest principles based on the most up to date evidence are promulgated but with an eye towards historical prospective. The reader should gain an adequate understanding of various disorders that comprise this condition and feel comfortable with proposing options for management when faced with the responsibility of caring for an affected child

The surgical correction of buried penis: a new technique

We report a new surgical technique for the correction of buried penis. The study comprised 10 boys with buried penis. The technique consisted of resection of abnormal dartos attachments, unfurling of the prepuce and correction of the deficient shaft skin by reapproximation of the preputial skin flaps in a defined way to obtain sufficient penile skin coverage. Outcome was excellent in 6 cases, good in 3 and unsatisfactory in 1. Perfect cosmetic results were obtained and no serious complications develope

Improved Mathieu repair for coronal and distal shaft hypospadias with moderate chordee

A modified Mathieu "flip-flap" technique is described for coronal and distal shaft hypospadias with moderate chordee. The first improvement is the creation of a well vascularised skin flap by leaving the dartos tunica attached to the mobilised skin, thus making it possible to bridge urethral defects up to 2.5 cm. The second improvement is the correction of congenital curvature by partial chordectomy and dorsal plication of the tunica albuginea without the need for circumcision. Preputial reconstruction is possible if required. Twenty patients underwent the procedure with a follow-up of at least 2.5 years; 96 patients had a shorter follow-up. Complications in the group of 20 patients consisted of 1 fistula, 2 meatal stenoses and 1 glanular dehiscence due to severe wound infection. There were no late complication

Neonatal management of female intersex by clitorovaginoplasty

Historically, in female pseudohermaphrodites a staged procedure with early clitoral reduction and delayed vaginoplasty was often the treatment of choice. In recent years several authors have described 1-stage genitoplasty that is performed in the first year of life. The 1-stage procedure for clitoroplasty and vaginal exteriorization is preferable for an optimal functional and cosmetic result. Because of the emotional aspects of the family in intersex cases, neonatal reconstruction offers advantages to the child and parents. Furthermore, the perinatal genital hyperstimulation by maternal and placental estrogens that persists into the first 3 to 4 weeks of life produces vaginal enlargement by mucous secretion and vaginal wall hypertrophy, facilitating identification of the cleavage planes and vaginal pull-through. These arguments have led us to treat these patients by neonatal 1 stage clitorovaginoplasty. Cosmetic and functional results in 5 consecutive cases have been excellent without serious complication

Traumatic Vulvar Epithelial Inclusion Cysts Following Female Genital Mutilation (FGM)

Background: Female genital mutilation (FGM) occurs mainly in Africa, parts of the Arabian Peninsula and parts of Asia. It is commonly associated with acute complications as well as diverse late/delayed complications. One of the most common of these late complications is progressively enlarging painless cysts of the vulva. Case Report: An 8-year-old girl from Eritrea presented to our paediatric emergency department with a progressively enlarging mass of the vulva. She had undergone a clitoridectomy and partial removal of the labia minora as an infant in Eritrea. We performed surgical excision of the cyst and reconstruction of the labia. Histology showed a traumatic squamous epithelial inclusion cyst of the vulva. Conclusion: Epithelial or dermoid cysts of the vulva following FGM are extremely rare. Symptoms often require surgical intervention. Through increasing migration, more girls and female youths with FGM are likely to present to practices and hospitals in Germany. Thus increased knowledge and awareness of the medical complications of FGM and their treatment will be necessary in years to come