ABSTRACT
The assessment of abnormal anatomy in cases of DSD is important to aid diagnosis, understand the aetiology and severity of the condition, guide management and assess the outcomes of treatment. In this paper we present a systematic approach to this assessment which will provide a means by which the multiple disciplines who manage patients with these rare and complex conditions can communicate and thus improve overall care.
Subject(s)
Disorders of Sex Development/pathology , Disorders of Sex Development/therapy , Patient Care Team , Sex Determination Analysis/methods , Urogenital Abnormalities/pathology , Child , Female , Humans , MaleABSTRACT
OBJECTIVE: Hypospadias is one of the most common congenital urogenital malformations in males with a significantly increasing incidence over the past 20 years. The causes of this insufficient virilization of the genital tubercle are essentially unknown. SUBJECTS AND METHODS: A hospital-based controlled study was realized with 225 hypospadias cases at Debrousse Hospital, Lyon, using a detailed questionnaire completed during a consultation with the patients' parents and those of controls of the same age. The chi(2), the P-value, the odds ratios and the 95% confidence interval were assessed. RESULTS: Hypospadias was found to be positively associated with genetic factors (as defined by the presence of other case(s) in the family in one case in four) and with neonatal low birth weight, fair-haired boys, maternal history such as viral infection during the first trimester, order of parity, toxaemia of pregnancy, delivery modality such as caesarean section, and environmental pollution. CONCLUSIONS: These results show that aetiological factors of hypospadias are likely to be related to three main fields which interact: genes, the placenta and environmental factors.
ABSTRACT
No disponible
Subject(s)
Child , Humans , Europe , Pediatrics , Forecasting , Spain , UrologyABSTRACT
OBJECTIVE: To review the long-term results of bladder neck reconstruction (BNR) in patients with classical bladder exstrophy or epispadias, and to review the concept of continence surgery in these two groups, stressing the difficulty in finding an adequate balance between urine storage (which implies high outlet resistance and low storage pressure) and complete bladder emptying (which implies low outlet resistance and a transient increase in bladder pressure); surgery cannot achieve 'continence' (which implies active mechanisms) but only 'dryness' (which implies passive mechanisms). PATIENTS AND METHODS: Eighty patients with classical bladder exstrophy (52 male, 28 female) and 25 with incontinent epispadias (17 male, 18 female) had their bladder neck reconstructed after a Young-Dees-Leadbetter procedure, subsequently modified by Mollard. The treatment is detailed and results reviewed after a mean follow-up of 11 years. All patients were treated and followed in the same institution. RESULTS: In the exstrophy group, 36 (45%) patients presented with a dry interval of > 3 h, with urethral emptying after one BNR; 52 (65%) presented with recurrent urinary tract infections, 19 (24%) with urinary stones, 21 (26%) with dilated upper urinary tracts, 13 (16%) with bladder perforations and one with an adenocarcinoma of the bladder. Thirty-eight patients (48%) required further surgery; 51% of all patients required an endoscopic procedure within 3 months after the BNR and 26% had endoscopic procedures for late (> 3 months) urine retention. In the epispadias group, 13 (52%) patients presented with a dry interval of > 3 h with urethral emptying after one BNR; 12 (48%) had recurrent urinary tract infections, five (20%) upper tract dilatation, two (8%) bladder stones, one (4%) bladder perforation and one an adenocarcinoma of the bowels after a ureterosigmoidostomy. Ten (40%) children required further surgery. CONCLUSION: We compared the present results for continence with those in other published series; most complications encountered were related to the obstructive pattern of bladder emptying and the abnormal bladder urodynamic behaviour caused by BNR. We consider that BNR is unpredictable and the roles of the other factors in urinary continence are discussed. Alternative procedures are detailed. The concept of continence surgery in exstrophy and incontinent epispadias is reviewed, stressing the importance of favouring bladder development and limiting obstructive patterns of bladder emptying that cause severe and recurrent complications.