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.

Treatment of vaginal agenesis in Mayer-Rokitansky-Küster-Hauser syndrome in Denmark: a nationwide comparative study of anatomical outcome and complications.

OBJECTIVE: To compare the long-term anatomical outcome and complications in treatments of vaginal agenesis in Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. DESIGN: A historical comparative follow-up study using medical chart reviews. SETTING: Public hospitals. PATIENT(S): A nationwide cohort of patients diagnosed with MRKH syndrome (n = 168). INTERVENTION(S): McIndoe vaginoplasty (n = 54), self-dilation (n = 60), coital dilation (n = 20), Baldwin vaginoplasty (n = 4), Williams vaginoplasty (n = 3), Davydov vaginoplasty (n = 2), or no treatment (n = 29). MAIN OUTCOME MEASURES(S): Mean vaginal depth at follow-up, anatomical treatment success rates at levels of ≥6 cm, ≥7 cm, and ≥8 cm, complications, and resurgery. RESULT(S): Mean vaginal depths were 7.4 cm (95% confidence interval [CI] 6.8-8.1 cm), 7.3 cm (95% CI 6.7-7.9 cm), and 8.7 cm (95% CI 7.9-9.5 cm) at follow-up in patients treated by McIndoe vaginoplasty, self-dilation, and coital dilation, respectively. Overall complication rates in the three groups were 35/54 (65%), 21/52 (35%), and 1/20 (5%), respectively. Eighteen (33%) of the patients who underwent McIndoe vaginoplasty needed resurgery. CONCLUSION(S): Our findings support the current recommendations of dilation therapy as the first-line treatment of vaginal agenesis and emphasize the relevance of coital dilation in patients able to regularly engage in coital activity. However, further studies of functional outcome and patient satisfaction are needed.

Prevalence and patient characteristics of Mayer-Rokitansky-Küster-Hauser syndrome: a nationwide registry-based study.

STUDY QUESTION: What is the prevalence of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome? SUMMARY ANSWER: The prevalence of MRKH syndrome in Denmark is 1 in 4982 (95% confidence interval (CI): 4216-5887) live female births. WHAT IS KNOWN ALREADY: The prevalence of MRKH syndrome has been estimated to be around 1 in 4000-5000 females. However, population-based prevalence studies of MRKH syndrome are sparse. Moreover, population-based data on patient characteristics are lacking. STUDY DESIGN, SIZE, DURATION: This retrospective cohort study used the Danish National Patient Registry (DNPR) to identify a nationwide population-based cohort of patients with MRKH syndrome. Subsequently, patients were linked to the Danish Cytogenetic Central Registry (DCCR) and patient medical records in order to validate the diagnoses. PARTICIPANTS/MATERIALS, SETTING, METHODS: Hospitalizations and outpatient visits from 1994 to April 2015 at all public hospitals in Denmark were searched for patients assigned with a diagnosis code indicative of MRKH syndrome. The diagnoses were validated by diagnostic history in the DNPR and DCCR data, and by review of patient medical records. The prevalence was estimated considering the identified patients born from 1974 to 1996. Patient characteristics were described using data collected from DNPR, DCCR and patient medical records. MAIN RESULTS AND THE ROLE OF CHANCE: The diagnosis was validated in 304 of 314 patients (96.8%) suspected with MRKH syndrome by review of diagnostic histories, DCCR data, and medical records and in 168 patients, the diagnosis of MRKH syndrome was confirmed (positive predictive value = 55.3% (95% CI: 49.5-60.9%)). The prevalence was 1 in 4982 (95% CI: 4216-5887) live female births based on 138 patients born from 1974 to 1996. Typical MRKH syndrome and atypical MRKH syndrome/Müllerian duct aplasia, Renal aplasia, and Cervicothoracic Somite dysplasia association were present in 56.5% and 43.5% of the patients, respectively. Kidney malformations were the most prevalent extragenital malformations, described in 38 of 111 patients (34.2%). However, in 57 patients (33.9%) no urinary tract imaging was performed. Three familial cases of MRKH syndrome were identified. LIMITATIONS, REASONS FOR CAUTION: We identified all patients with MRKH syndrome diagnosed at public hospitals in Denmark. When interpreting the prevalence estimate, caution must be taken due to limitations such as patients not diagnosed in public hospitals, other diagnosis codes not used in the study and the unknown impact of a net positive migration rate in Denmark. WIDER IMPLICATIONS OF THE FINDINGS: The prevalence estimate around 1 in 5000 is in accordance with a previous nationwide study. We consider the prevalence generalizable to other Caucasian populations. Prevalence studies of non-Caucasian populations are needed to investigate whether inter-ethnic differences in prevalence exist. Finally, the results of this study emphasize the need for sufficient basic examinations of patients with MRKH syndrome, including the importance of family medical history. STUDY FUNDING/COMPETING INTERESTS: None.

Impact of metformin on anti-Müllerian hormone in women with polycystic ovary syndrome: a secondary analysis of a randomized controlled trial.

Conclusions on the effect of metformin on circulating anti-Müllerian hormone (AMH) levels in women with polycystic ovary syndrome (PCOS) are ambiguous. We performed a secondary analysis of a randomized, double-blind, placebo-controlled cross-over trial. Fifty-six women with hyperandrogenemic PCOS were included. Each woman served as her own control receiving a daily dose of either 1700 mg metformin or placebo for 6 months. After a 3-month wash-out period they received the opposite treatment. The decrease in AMH from a median of 49.5 to 46.9 pmol/L after 6 months on metformin was overall not significant (p = 0.81), nor were changes in obese women (from 49.5 to 38.2 pmol/L; p = 0.53). Comparing individual metformin/placebo AMH values, a small absolute decrease of 9.3 pmol/L (p = 0.03) was observed in obese women after 6 months relative to baseline, suggesting a trend towards decreasing values after metformin treatment, mainly in obese women.

Metformin lowers serum cobalamin without changing other markers of cobalamin status: a study on women with polycystic ovary syndrome.

Treatment with the anti-diabetic drug metformin is followed by a decline in plasma cobalamin, but it is unsettled whether this denotes an impaired cobalamin status. This study has explored changes in the markers of cobalamin status in women with Polycystic Ovary Syndrome treated with metformin (1.5-2.5 g per day) (n = 29) or placebo (n = 23) for six months. Serum samples were collected before and after two, four, and six months of treatment. We found serum cobalamin to decline and reach significant lower levels after six months of treatment (p = 0.003). Despite the decline in serum cobalamin, we observed no reductions in the physiological active part of cobalamin bound to transcobalamin (holotranscobalamin), or increase in the metabolic marker of cobalamin status, methylmalonic acid. Instead, the non-functional part of circulating cobalamin bound to haptocorrin declined (p = 0.0009). Our results have two implications: The data questions whether metformin treatment induces an impaired cobalamin status in PCOS patients, and further suggests that serum cobalamin is a futile marker for judging cobalamin status in metformin-treated patients.

[Herpes simplex can cause acute abdomen]. / Herpes simplex kan medføre akut abdomen.

In rare cases herpes simplex virus (HSV) can cause disseminated and severe disease, especially in immunoincompetent patients. An apparently immunocompetent 27-year-old woman presented to a gynaecological ward with one week of unexplained abdominal pain. After some days of observation and tests, she underwent a diagnostic laparoscopy. Vesicular elements were seen on the bladder wall, and biopsies showed HSV type 2.

Adiponectin levels in women with polycystic ovary syndrome: impact of metformin treatment in a randomized controlled study.

OBJECTIVE: To evaluate the effect of metformin in polycystic ovary syndrome (PCOS). As follow-up on a previous paper describing hormonal and metabolic factors, this paper focuses on correlations between adiponectin and anthropometric, hormonal, and metabolic factors in PCOS and the effect of metformin. DESIGN: Randomized, double-blind, placebo-controlled crossover study. SETTING: District and university hospital. PATIENT(S): Fifty-two women with PCOS. Three groups were defined according to baseline adiponectin. INTERVENTION(S): Metformin or placebo for 6 months, followed by 3 months' washout before switching to opposite treatment. Blood tests and measurements were performed before and after treatment periods. MAIN OUTCOME MEASURE(S): Adiponectin, insulin, homeostasis model assessment (HOMA) index, and testosterone. RESULT(S): Waist-hip ratio (WHR), insulin, and HOMA index were significantly higher in the lower adiponectin group than in the upper and middle group, and high-density lipoprotein (HDL) cholesterol was higher in the upper than in the lower adiponectin group. Multiple regression analysis with adiponectin as the dependent variable and HOMA index, HDL cholesterol, testosterone, and WHR as independent variables showed an R(2) of 0.43 with ß-coefficients of -0.12 for the HOMA index, 0.72 for HDL cholesterol, and -1.49 for WHR. Testosterone did not contribute to the prediction of adiponectin levels. Metformin had no effect on adiponectin in spite of significant decreases in weight, fasting glucose, and insulin resistance. CONCLUSION(S): In PCOS, adiponectin levels are closely linked to insulin resistance, HDL cholesterol, and abdominal adiposity and unaffected by metformin.

Mycoplasma genitalium, Chlamydia trachomatis, and tubal factor infertility--a prospective study.

OBJECTIVE: To determine the presence of M. genitalium and C. trachomatis in women attending fertility clinics and to follow these women for the effects of previous infections or tubal damage on pregnancy rate and outcome. DESIGN: Prospective study. SETTING: Fertility clinics and university. PATIENT(S): Two hundred twelve couples attending fertility clinics. INTERVENTION(S): Blood and cervical swab samples from the women. Tubal status was assessed by culdoscopy and/or laparoscopy. MAIN OUTCOME MEASURE(S): Presence of M. genitalium and C. trachomatis was determined by polymerase chain reaction. Serum samples were tested for antibodies against M. genitalium and C. trachomatis. RESULT(S): One swap sample was positive to C. trachomatis and none positive to M. genitalium. Thirty of the 194 women had tubal factor infertility (TFI); 23% and 17% of women with TFI had antibodies to C. trachomatis and M. genitalium, respectively, compared with 15% and 4%, respectively, of women with normal tubes; 36% and 14% of women with a self-reported history of pelvic inflammatory disease (PID) were seropositive to C. trachomatis and M. genitalium, respectively, compared with 10% and 6%, respectively, of women without past PID. CONCLUSION(S): A strong antibody response against M. genitalium or C. trachomatis but no sign of current or chronic infection was found in women with TFI, indicating that previous infections caused by these microorganisms may have resulted in permanent damage and occlusion of the fallopian tubes.

Risk factors for glucose intolerance in Danish women with polycystic ovary syndrome.

BACKGROUND: Women with polycystic ovary syndrome (PCOS) are reported to be at risk for glucose intolerance. The aim of the study was to describe these risk factors in a population of Danish PCOS women attending a gynecologic clinic and to identify the parameters with the strongest correlation to the fasting blood glucose levels. In addition, we studied whether the oral glucose tolerance test (OGTT) diagnosed more cases of glucose intolerance in this PCOS population than the fasting plasma glucose value (FPG) alone. METHODS: Cross-sectional study of 91 women with oligomenorrhea or amenorrhea and elevated serum testosterone, followed by an OGTT in 27 of the women. RESULTS: Women with a FPG above normal were older and had a higher body mass index (BMI), cholesterol, and triglycerides and a lower sexual hormone binding globulin (SHBG). Of the 21 women older than 34, eight (38%) had a FPG above normal. The OGTT study showed that one of five with abnormal glucose tolerance would not have been diagnosed, if the FPG alone had been performed. CONCLUSIONS: In this study, 38% of women with symptoms of PCOS over the age of 34 had abnormal blood glucose values. These women should receive blood glucose testing regardless of BMI, testosterone levels and family history of type 2 diabetes mellitus. An OGTT may be necessary to find all cases of impaired glucose intolerance.