病院紹介

Purpose: Posterior urethral valves are the most common cause of congenital obstructive uropathy leading to renal failure in childhood. We investigate the influence of bladder dysfunction on renal function impairment. Materials and Methods: We retrospectively reviewed the records of 116 patients with posterior urethral valves. After valve ablation urodynamic studies were performed in all patients. The presence of vesicoureteral reflux (VUR), renal dysplasia, serum creatinine during followup as well as urodynamic abnormalities were recorded. Mean followup was 10.3 years after valve ablation. Results: All patients underwent endoscopic valve ablation and urinary diversion was performed in 32. Renal dysplasia was found in 9 patients. Renal function impairment at the end of followup was present in 35 patients. Urodynamic studies showed poor compliance in 30 boys, detrusor overactivity in 44, and poor compliance and detrusor overactivity in 17. Bilateral VUR was found in 17 boys at the time of diagnosis. Urodynamic studies were normal in 23 (20%) patients, of whom 4 had renal failure. Univariate analysis showed that poor compliance and detrusor overactivity had a significant correlation to renal function impairment in addition to bilateral VUR and renal dysplasia. In a multivariate analysis bilateral VUR was an independent prognostic factor for poor prognosis. Conclusions: Bladder dysfunction may contribute to renal function impairment eventually but normal urodynamic findings do not preclude renal deterioration. It is likely that loss of compliance and detrusor overactivity would actually result in a valve bladder reaching its end point function

Tumor Risk in Disorders of Sex Development

Certain patients with disorders of sex development (DSD), who bear Y chromosome material in their karyotype, are at increased risk for the development of type II germ cell tumors (GCT), which arise from early fetal germ cells. DSD gonads frequently harbor immature germ cells which express early fetal germ cell markers. Some of them (e.g. OCT3/4 and NANOG) seem to be of pathogenetic relevance in GCT development providing cells with the ability of pluripotency,proliferation and apoptosis suppression. Also TSPY (testisspecific protein Y-encoded), the main candidate for the socalled gonadoblastoma locus on Y chromosome, is overexpressed in germ cells of DSD patients and possibly contributes to their survival and proliferation. Nowadays, the use of immunohistochemical methods is highly relevant in identifying DSD gonads at risk. The risk for GCT development varies. While the prevalence of GCT is 15% in patients with partial androgen insensitivity, it may reach more than 30% in patients with gonadal dysgenesis. Patients with complete androgen insensitivity and ovotesticular DSD develop ma lignancies in 0.8% and 2.6% of cases, respectively. However,these data may be biased for various reasons. To better estimate the risk in individual groups of DSD, further investigations on large patient series are needed

Genitale chirurgie bij jongens met disorders of sex development

Het fenotype van jongens met een gestoorde geslachtsontwikkeling (DSD) varieert van (ernstige) hypospadie tot ambigu genitaal, vaak met enkel- of dubbelzijdig cryptorchisme. Müllerse structuren kunnen persisteren, zowel op het niveau van de - meestal cryptorche - gonade, in de vorm van een tuba en hemi-uterus, als in de vorm van een vergrote utriculus of mannelijke vagina. Persisterende Müllerse structuren bij een ondergeviriliseerde jongen moet nadrukkelijk onderscheiden worden van het zeldzame persistent müllerian duct syndrome (PMDS), waarbij een jongen met een normale penis naast intra-abdominaal gelegen testes, epididymides en vasa deferentia ook tubae en een uterus heeft. In dit artikel worden huidige behandelingsmogelijkheden toegelicht, inclusief de falloplastiek, een ingreep die momenteel niet in Nederland maar wel in België beschikbaar is. Langdurige follow-up van deze kinderen, inclusief evaluatie van psychoseksuele aspecten na de puberteit, is onderdeel van de multidisciplinaire behandeling

Gonadal dysgenesis in disorders of sex development : diagnosis and surgical management

Recent studies on gonadal histology have improved the understanding of germ cell malignancy risk in patients with disorders of sex development (DSD), and evidence-based gonadal management strategies are gradually emerging. Especially in 46, XY DSD and 45, X/46, XY DSD, which are characterized by gonadal dysgenesis, the risk of germ cell malignancy is significantly increased. This paper summarized the progress over the past 10 years in malignancy risk assessment in patients with DSD, and its implications for optimal surgical handling of the involved gonads

New insights into type II germ cell tumor pathogenesis based on studies of patients with various forms of disorders of sex development (DSD)

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