[Differences in sexual development-S2k guideline update]. / Varianten der Geschlechtsentwicklung ­ Aktualisierung der S2k-Leitlinie.

BACKGROUND: Human beings with a difference in sexual development (DSD) often underwent gender reassignment surgery during early childhood. However, the medical decision was often not congruent with the gender identity that affected persons developed later on. OBJECTIVES: To represent the interests of affected persons, an interdisciplinary guideline in cooperation with support groups was written. MATERIALS AND METHODS: The revision of the first version of the guideline, published in 2016, was edited by 18 professional societies and working groups as well as 3 support groups. A literature search was performed for each of the 12 chapters. Recommendations and statements created by the working groups were voted on during four consensus conferences. RESULTS: The guideline highlights the right of self-determination of affected persons. In this context, new legal requirements are reported. Other than necessary primary diagnostics, medical procedures should be postponed. Most important is the psychological support of parents and patients. Tumor risk of the gonads and protection of fertility are analyzed and discussed in detail. CONCLUSION: The content of the guideline represents a paradigm shift in dealing with human beings with a difference of sexual development. Projects as DSD Care and Empower-DSD help to promote the practical implementation of the guideline's recommendations.

Variations of sex development: The first German interdisciplinary consensus paper.

INTRODUCTION: The term variations of sex development subsumes a large number of congenital conditions including chromosomal mosaics and variations of chromosomal, gonadal, and phenotypic sex. A situation of this nature may cause severe distress to both, parents and affected persons. One of the reasons for this is the binary form of gender classification in the society. In the past, because of a fear of possible stigmatization and an inability to cope with complex situations, it has been medical policy and practice for newborns to undergo early, mostly 'feminizing' elective surgery with the aim of achieving an outer genital appearance that is unambiguously male or female. Protests by advocacy groups for the most part as well as the results of outcome studies have shown that the development of affected persons may be very different to what has been expected and often does not result in the intended clear female or male gender identity as had been intended. It, therefore, seemed a matter of urgency to implement this new awareness as well as the ethical and personal human rights perspectives in the recommendations for the medical and psychosocial management of diverse sex development (DSD) in the future. STUDY DESIGN: In 2012, an interdisciplinary group of German academics engaged in the field of DSD decided to work on a consensus paper for this topic. It involved the participation of all faculties and non-scientific groups dealing with DSD, in particular advocacy and service-user groups. In a structured consensus, process recommendations were developed based on scientific literature as well as personal experiences of clinicians and affected individuals. RESULTS: Finally, 37 recommendations were agreed on. The strength of consensus is reflected in the degree of agreement as expressed in percentages. CONCLUSION: The introduction of the consensus paper reflects on the emerging paradigm shift and the necessity for a more open view of gender within society. The paper is intended to aid the performance of appropriate diagnostics in DSD-affected newborns and especially to help parents and affected persons cope with the biological and social consequences of DSD. With regard to medical or surgical therapy, it gives information about the most recent treatment trends.

Follow-up of unilateral multicystic kidney dysplasia after prenatal diagnosis.

OBJECTIVES: Since the introduction of antenatal diagnostic screening, multicystic kidney dysplasia (MCKD) has been diagnosed in 1 of 4300 live births. We analyze our own experience and demonstrate a management regime based on these results and existing studies. METHODS: Retrospective data analysis was carried out in 110 patients, prenatally diagnosed with MCDK. A total of 93 patients with confirmed diagnosis of unilateral MCDK were born alive and followed up in our institutions. RESULTS: A total of 110 unilateral cystic kidneys were prenatally diagnosed; 93 were confirmed postnatally. These children were retrospectively allocated to two treatment groups: 51 were operated upon; 42 were treated conservatively. A micturition cystourethrogram was performed 88 times, yielding 20 pathological findings. Vesicoureteral reflux was identified 11 times (12.5%). Eleven children (12%) had associated non-urological abnormalities. Cardiac and musculoskeletal malformations predominated. After 1995, nephrectomy was performed only when clinically indicated. Thirty-seven children were treated conservatively for between 4 months and 6 years (mean 33 months); 28 dysplastic kidneys exhibited size reduction. Complete involution was noted in 16 of 28 children between 7 and 29 months (mean 16.2 months). CONCLUSION: This study provides evidence that neonatal nephrectomy of unilateral MCDK is rarely required. It also shows that the discussed malformation is not an isolated developmental abnormality. In a high proportion, associated urogenital abnormalities were present and therapeutically relevant, and determined the overall prognosis.

[Prenatal diagnosis of obstructive uropathies - positive predictive value and effect on postnatal therapy]. / Pränatalsonographische Befunde bei obstruktiven Uropathien - positive Vorhersagefähigkeit und Bedeutung für die postnatale Therapie.

INTRODUCTION: Prenatal diagnosis of urological anomalies is a standard procedure nowadays. The aim of this study was first to define the frequency of urinary tract anomalies in the selected patients in a level III center for prenatal diagnostics and therapy. The second aim was to show the accuracy of prenatal diagnosis in the special groups of obstructive uropathies. PATIENTS AND METHODS: Postnatal diagnoses were used for control of the prenatal findings. In the 12-year retrospective study, we analyzed 21 616 pregnancies scanned for fetal anomalies. In 1 574 fetuses pediatric surgical anomalies were diagnosed. Out of 1 077 follow-ups 618 patients with urinary tract anomalies were found. RESULTS: It could be shown that prenatal ultrasound has a high sensitivity for the diagnosis of obstructive renal tract anomalies. The diagnosis of subpelvine obstruction and muticystic kidney dysplasia can be made with an accuracy of 97 and 98 %. The therapeutic relevance of the diagnosis "isolated hydronephrosis" increases up to 60 % when mild dilatation is neglected. False negative scans for urinary tract anomalies are low at 10 %. CONCLUSION: Hence, prenatal ultrasound for urinary tract anomalies is a method of high sensitivity. The therapeutic relevance is rather high. The most important question is to find all those patients who need a postnatal therapeutic approach immediately.

Meconium peritonitis and pseudo-cyst formation: prenatal diagnosis and post-natal course.

OBJECTIVES: Intra-uterine bowel perforation can occur secondary to a variety of abnormalities and cause sterile peritonitis in the fetus (generalised = type I). If sealing of the perforation does not take place, a thick-walled pseudo-cyst can form (type II). METHODS: Over a 12-year period, 21 616 pregnancies were screened for gastro-intestinal malformations using prenatal ultrasound. We identified 1077 cases suspicious of surgically correctable malformations. Post-natal diagnoses and outcome were worked up retrospectively. RESULT: We found 96 fetuses with suspected gastro-intestinal malformations. Prenatal bowel perforation with meconium peritonitis was confirmed in 11 cases. In 5 of these 11, the correct diagnosis had been predicted prenatally. One child presented as a fetal and neonatal emergency (case report). Ten of the eleven infants were operated on during their first day of life. Intra-operative findings were atresia (n = 4), meconium ileus (n = 6) and no obvious cause (n = 1). Two children suffered fatal complications. CONCLUSION: Meconium peritonitis and meconium pseudo-cysts as its special manifestation are assessable by prenatal diagnosis but present in different ways. They can present as fetal ascites or echogenic bowel and cause fetal or neonatal distress, requiring close observation and highly specialised care.

[Retrospective analysis of differential therapeutic measures in children with double kidney and ureter and hydronephrosis]. / Retrospektive Analyse des differentialtherapeutischen Vorgehens bei Kindern mit Doppelnieren mit Ureter duplex und Harntransportstörung.

In this study, we analyzed the findings of 79 duplex kidneys in 64 children treated at our institution between 1987 and 1999. Several reasons for impaired urine transport in a duplex kidney were clarified. A total of 55% of all patients manifested a variety of abnormal findings during prenatal screening. In the course of postnatal diagnostic work-up, renal units were classified according to their leading pathomorphological features: 44% showed a ureterocele, 29% nonfunctioning units at first diagnosis, and 27% vesicoureteric reflux. Nonfunctioning moieties had been heminephrectomized in most cases. In such nonfunctioning cases in the presence of associated ureteroceles, relief drainage was unsuccessful in our study. Reflux rarely matures. Ureterocystoneostomy is successful in 80% of our cases. In functioning units with a ureterocele, endoscopic therapy may be the one and only intervention needed. However, they commonly require secondary reconstructive measures.

Survival in second trimester oligohydramnios secondary to bilateral pelviureteral junction obstruction.

The extent and onset of obstruction in hydronephrosis determine the varying degrees of renal impairment. Bilateral hydronephrosis, especially in combination with oligohydramnios, is considered a negative predictor for pregnancy outcome. We describe a case of bilateral pelviureteral junction obstruction causing severe oligohydramnios between 25 and 29 weeks of gestation. The prenatal and postnatal findings and treatment are demonstrated. In the presence of bilateral renal impairment and oligohydramnios, our patient had an unfavorable prognosis. The respiratory and renal function, however, were better than expected. We show how urinary tract reconstruction and neonatal intensive therapy can result in an acceptable outcome.