RESUMO
The Mayer-Rokitansky-Küster-Hauser syndrome is characterized by aplasia of the uterus and upper two-thirds of the vagina. While it can appear as an isolated genital malformation, it is often associated with extragenital abnormalities, with little still known about the pathogenetic background. To provide an overview of associated malformations and syndromes as well as to examine possible ties between the rudimentary tissue and patient characteristics, we analyzed a cohort of 469 patients with MRKHS as well as 298 uterine rudiments removed during surgery. A total of 165 of our patients (35.2%) had associated malformations (MRKHS type II). Renal defects were the most common associated malformation followed by skeletal abnormalities. Several patients had atypical associated malformations or combined syndromes. Uterine rudiments were rarer in patients with associated malformations than in patients without them. Rudiment size ranged from 0.3 cm3 to 184.3 cm3 with a mean value of 7.9 cm3. Importantly, MRKHS subtype or concomitant malformations were associated with a different frequency of uterine tissue as well as a different rudiment size and incidence of endometrial tissue, thereby indicating a clear heterogeneity of the phenotype. Further research into the associated molecular pathways and potential differences between MRKHS subtypes is needed.
RESUMO
An experimental vignette study examined whether three specific situational cues predict ways of coping with violated expectations. The situational cues (consistency, distinctiveness, consensus) were derived from the Covariation Principle. The assessed coping strategies were based on the ViolEx Model-assimilation (activities to fulfill one's expectation), accommodation (expectation change) and immunization (ignoring the discrepant information). A sample of 124 adults (mean age = 23.60 years; 49.19 percent psychology students) were randomly assigned to an experimental and control condition. Participants of the experimental condition read several vignettes about expectation violations with systematically manipulated situational cues, while participants of the control condition received the same vignettes without such cues. Participants had to rate the usefulness of each coping strategy per vignette. The situational cues mostly led to response shifts in coping tendencies: Situations with low consistency cues mostly led to immunization, whereas high consistency led to assimilation in the case of high distinctiveness and to accommodation in the case of low distinctiveness. Consensus cues only played a minor part in the coping process. The results show that situational characteristics influence people's coping behavior, regardless of their dispositional preferences for certain coping strategies.
RESUMO
The uterus is responsible for the nourishment and mechanical protection of the developing embryo and fetus and is an essential part in mammalian reproduction. Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by agenesis of the uterus and upper part of the vagina in females with normal ovarian function. Although heavily studied, the cause of the disease is still enigmatic. Current research in the field of MRKH mainly focuses on DNA-sequencing efforts and, so far, has been unable to decipher the nature and heterogeneity of the disease, thereby holding back scientific and clinical progress. Here, we developed long-term expandable organoid cultures from endometrium found in uterine rudiment horns of MRKH patients. Phenotypically, they share great similarity with healthy control organoids and are surprisingly fully hormone responsive. Transcriptome analyses, however, identified an array of dysregulated genes that point to potentially disease-causing pathways altered during the development of the female reproductive tract. We consider the endometrial organoid cultures to be a powerful research tool that promise to enable an array of studies into the pathogenic origins of MRKH syndrome and possible treatment opportunities to improve patient quality of life.