Case Report: Uterine Anomalies in Girls With a Congenital Solitary Functioning Kidney

Unilateral renal agenesis and multicystic dysplastic kidney, resulting in a contralateral solitary functioning kidney (SFK), are part of the broad spectrum of congenital anomalies of the kidney and urinary tract (CAKUT). In girls with SFK, screening for asymptomatic Müllerian anomalies of uterus and vagina is not yet routinely performed, and therefore often overlooked until clinical complications in the menstrual cycle or fertility process occur. In this case series, we report on four teenagers with congenital SFK presenting with menstrual problems due to a Müllerian anomaly. Routine peri-menarchal screening for Müllerian anomalies in girls with SFK may provide timely counseling, surgical treatment and prevention of associated complications such as endometriosis, infertility and miscarriages.

O-008 Improving outcomes in women with Mullerian anomalies

text Mullerian Anomalies are present in approximately 5% to 7% of the general population and the incidence is a little more in infertile and recurrent miscarriage women. Most of the recent studies have reported that the obstetric outcome is compromised in this group with greater risk of infertility, recurrent pregnancy loss, intrauterine growth retardation, preterm birth and many other obstetric complications, which may be individually related to the different types of Mullerian Anomalies. In this presentation, We are going to discuss on how the outcomes are different in the various Mullerian Anomalies depending upon the degree of the defects related to different complications with more profound defects. We will also discuss on how to optimize the pregnancy outcomes with various interventions and what the literature review supports. Trial registration number Study funding Funding source

Analysis of copy number variations of WNT4 gene in a Chinese population with Müllerian anomalies

Background To investigate the genetic contribution of copy number variations (CNVs) in Wingless-type MMTV integration site family, member 4 (WNT4), in a Chinese population with Müllerian anomalies (MA), copy number analysis of WNT4 by Multiplex ligation‐dependent probe amplification (MLPA) was performed on 248 female patients. Some studies have shown that heterozygous missense mutation of WNT4 can lead to MA. However, few studies on the relationship between WNT4 CNVs and MA have been performed. Results Among the 248 Chinese women affected by MA in this study, heterozygous deletion of WNT4 was detected in a single patient. Conclusions MLPA identified one heterozygous deletion in WNT4 in a single female patient among 248 Chinese women affected by MA. This study firstly reports CNVs of WNT4 in a large sample of MA patients from the Chinese population, which suggests that CNVs of WNT4 cannot be excluded in the occurrence of MA. This provides a genetic basis for precise treatment in the future.