Understanding the Diagnostic Odyssey of Women with Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome in Denmark: A Qualitative Interview Study.

STUDY OBJECTIVE: The diagnosis of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is often a lengthy process that typically occurs during late adolescence. To support optimized and patient-centered care, this study aimed to investigate how women with MRKH syndrome experience the diagnostic process. METHODS: From January 2021 to March 2021, we conducted in-depth interviews with 18 Danish women (≥25 years) diagnosed with MRKH syndrome. The interviews lasted a median of 92 minutes (range: 67-117). Data were analyzed using thematic analysis. RESULTS: As teenagers or young women at the time, all women had experienced the diagnostic process in the nonspecialized healthcare sector as deeply upsetting due to distressing gynecological examinations, use of inappropriate language, and considerable diagnostic delay. When reaching the specialized health care sector, questions could finally be answered, but this information and support did not significantly alter their feelings of being "deviant" or "flawed". The women continued their diagnostic odyssey beyond the health care system and found online communities that gave them valuable support in living with MRKH syndrome. CONCLUSION: Women experience the diagnostic odyssey of MRKH syndrome as upsetting and potentially traumatizing beyond the diagnosis. Healthcare professionals can influence young women's understanding and experience of MRKH syndrome by using inclusive language (eg, avoiding "deformity") and addressing all that is normal and functioning (eg, external genitalia and potential for sexual pleasure). In nonurgent conditions, young women should be given the choice to delay a genital examination.

A life course perspective on Mayer-Rokitansky-Küster-Hauser syndrome: women's experiences and negotiations of living with an underdeveloped uterus and vagina.

PURPOSE: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by the absence or underdevelopment of the uterus and upper part of the vagina. It is usually diagnosed during adolescence, and the present study investigates how women experience and negotiate to live with MRKH syndrome long-term. METHODS: From January to March 2021, eighteen Danish women with MRKH syndrome participated in semi-structured interviews via video conference. The mean time since diagnosis was 11.5 years. A thematic analysis using the life course framework as a theoretical approach was applied. RESULTS: The analysis identified the diagnosis as a turning point, that dramatically altered the women's imagined futures. Not conforming to dominant social norms regarding sexuality and pregnancy meant that the women continuously managed and negotiated the meaning and impact of MRKH syndrome in relation to the five principles of the life course perspective: (1) Lifelong development, (2) Timing, (3) Human agency, (4) Linked lives, and (5) Historical time and place. CONCLUSION: Using the life course framework contributed to a holistic understanding of life with MRKH syndrome by showing how the meaning and consequences of the congenital condition changed over time and in adaptation to gendered and age-related social norms and expectations.IMPLICATIONS FOR REHABILITATIONThe perceived meaning and impact of living with Mayer-Rokitansky-Küster-Hauser syndrome change over time, and women's information and support needs thus change accordinglySensitive, clinical communication is essential when discussing treatment optionsOnline communities may provide support and reduce feelings of loneliness.

The effect of 3 commonly used surgical approaches for total hip arthroplasty on mid- to long-term patient-reported outcome measures.

INTRODUCTION: The most effective surgical approach for total hip arthroplasty (THA) remains controversial. Comparisons of surgical approach based on patient-reported outcome measures (PROMs) have been limited to short- to mid-term outcomes or the comparison of only 2 approaches. The aim of this study was to compare PROMs for the 3 main approaches for THA with up to 10 years follow-up. METHODS: A total of 906 patients who underwent primary THA at a single hospital between 2009 and 2020 through an anterior (312), lateral (211) or posterior (383) approach were evaluated using the Oxford Hip Score (OHS), EuroQoL-5-Dimension (EQ-5D-5L) and visual analogue scale/verbal rating scale for pain (VAS/VRS). PROMs were prospectively collected before surgery and routinely at 6 weeks, 6 months and 1, 2, 5 and 10 years after surgery. RESULTS: There was no significant difference in demographics or comorbidities between the 3 groups. All 3 approaches resulted in a significant improvement in overall PROMs after THA, and plateaued after 6 months postoperatively, with no difference between the approaches (OHS, p < 0.01;EQ-5D-5L Index, p < 0.01;VAS/VRS, p < 0.01). The EQ-5D-5L mobility dimension showed that the lateral approach resulted in 20% more patients reporting problems with mobility than the posterior and anterior approaches at the 6-week, 6-month, 2-year and 10-year follow-up. CONCLUSIONS: This study shows that all 3 common THA approaches substantially and similarly improve the OHS, EQ-5D-5L Index and VRS between 6 months and 10 years postoperatively. However, patient-reported mobility was poorer after a lateral approach and continued to be so at long-term follow-up.

Do Certain Patient Cohorts Benefit From Different Surgical Approaches in Total Hip Arthroplasty?

BACKGROUND: Unfortunately, an important minority of total hip arthroplasty (THA) patients report unsatisfactory outcomes. We aimed to compare the patient-reported outcome measures (PROMs) for three main THA approaches and evaluate the effect of sex and body mass index (BMI) on PROMs over a 10-year period. METHODS: A total of 906 patients (535 women, mean BMI 30.7 [range, 15 to 58]; 371 men, mean BMI 31.2 [range, 17 to 56]) who underwent primary THA by an anterior (AA) (312), lateral (LA) (211), or posterior (383) approach between 2009 and 2020 at a single institution were evaluated using the Oxford Hip Score (OHS). PROMs were prospectively collected before surgery and routinely at 6 weeks, 6 months, and 1, 2, 5, and 10 years after surgery. RESULTS: All three approaches resulted in significant postoperative OHS improvement. Overall, women experienced significantly lower OHS than men (P < .01). A significant negative relationship between BMI and OHS was identified and this relationship was exacerbated with an AA (P < .01). Women who had a BMI ≤ 25 reported OHS with a difference more than 5 points in favor of the AA, while women who had a BMI ≥ 42 reported an OHS with a difference more than 5 in favor of the LA. The BMI ranges were wider when comparing the anterior and posterior approaches, 22 to 46 for women and > 50 for men. For men, an OHS difference more than 5 was only seen with BMI ≥ 45 in favor of the LA. CONCLUSION: This study demonstrated that no single THA approach is superior to another but rather that certain patient cohorts may benefit more from specific approaches. We suggest that women who have a BMI ≤ 25 should consider undergoing an anterior approach for THA, while for women who have a BMI ≥ 42, a lateral approach or for a BMI ≥ 46, a posterior approach is advised.

How are uncertain prenatal genetic results perceived and managed two years after they were received? A qualitative interview study.

Chromosomal microarray has considerably improved our ability to identify or dismiss genetic conditions in the unborn child. However, this detailed analysis also reveals copy number variants (CNVs) of unknown or uncertain significance, in which the specific child's prognosis can be difficult to predict. Little is known about the longer-term impacts of receiving an uncertain prenatal CNV result. Our qualitative study explored how such a result was perceived and managed in everyday life, 2 years after it was received. From an original sample of 16 couples, nine women participated in a semi-structured follow-up phone interview. Transcripts were analyzed using thematic analysis. The results show that these women did not perceive the CNV result to be a part of their everyday lives. They managed the CNV result by focusing on the child's positive development, by not sharing the CNV information in wider social networks, and by emphasizing parental values such as taking life as it comes, welcoming human variation, and accepting that dealing with a child's struggles is an inherent part of parenthood. Overall, the women expressed a positive attitude toward prenatal genetic information about serious disorders but considered 'their' CNV to be close to normal; several women suggested that such findings should not be reported. However, they also recognized the difficulties in making such decisions, given variable penetrance and that couples' definitions of 'serious' could vary significantly. The diagnostic process during pregnancy was remembered as being highly stressful, and many expressed a need for more control in a future pregnancy. Our study provides insight into how mothers reconfigure CNV results to fit their values and everyday lives. When delivering uncertain CNV results in a prenatal setting, genetics healthcare providers should present and discuss long-term coping strategies with expecting parents.