Mayer–Rokitansky–Kuster–Hauser syndrome: Recent clinical and genetic findings

Mayer–Rokitansky–Kuster–Hauser (MRKH) syndrome is characterized by Müllerian duct aplasia in an XX individual with female phenotype presenting primary amenorrhea at adolescence. Multiple abnormalities may be associated with the MRKH syndrome. Genetic investigations focused on the genes of anti-Müllerian hormone and its receptor, as well as on Wt1, Pax2, Cftr and Hox genes, have been unproductive. Only the Wnt4 gene has been clearly implicated in MRKH syndrome and found to be associated with clinical and/or biological signs of hyperandrogenism in three different works. Beside the multiple malformations that may be associated with MRKH syndrome, such as renal, skeletal, cardiac and auditory defects, MRKH and hyperandrogenism represent a new clinical and genetic disorder.     

Designing architecture of soothing labor–delivery–recovery–postpartum unit: a study protocol

Improvements in health cannot occur without cutting-edge research informing the design and implementation of health programmes and policies, highlighting the need for qualified and capable researchers and institutions in countries where disease burden is high and resources are limited. Research capacity strengthening efforts in low- and middle-income countries have included provision of training scholarships for postgraduate degrees, often in high-income countries, internships at research universities/centres, short courses, as well as involvement with research groups for hands-on experience, among others. The HRP Alliance provides opportunities for developing local research capacity in sexual and reproductive health and rights through institutions based in low- and middle-income countries linked with ongoing and past collaborative studies. It is a network of HRP research partner institutions, World Health Organization (WHO) country and regional offices, WHO special programmes and partnerships, and WHO collaborating centres. It is through the HRP Alliance that HRP seeks to improve population health by strengthening local research capacity in sexual and reproductive health across the globe, with focus in low- and middle-income countries, in alignment with WHO’s quest of promoting healthier populations.     

Clinical characteristics and treatment of Herlyn–Werner–Wunderlich syndrome

Objective

To investigate the clinical characteristics and treatment of the Herlyn–Werner–Wunderlich syndrome (HWWS).

Methods

Sixty-one patients diagnosed with HWWS were retrospectively analyzed. HWWS is categorized into three types in China.

Results

Age at presentation of all the cases was after menarche. The most common clinical presentations were dysmenorrhea for type I and vaginal discharge for types II and III. Clinical presentations of types II and III may not occur until reproductive age. HWWS occurred on the right in 39/61. Excision of the obstructed vaginal septum was the treatment utilized in this cohort. After surgery, subsequent pregnancies were ipsilateral in 52.9 %.

Conclusions

Clinical presentation in untreated HWWS suggests the anatomic anomaly. Early recognition and treatment can reduce symptoms. Pregnancies occur in both the affected and unaffected uterus.     

A comparison between monophasic levonorgestrel–ethinyl estradiol 150/30 and triphasic levonorgestrel–ethinyl estradiol 50–75–125/30–40–30 contraceptive pills for side effects and patient satisfaction: A study in Iran

Objective

Oral contraceptive pills (OCPs) are one of the most effective reversible and accessible contraceptives, and patient acceptance for their use depends partly on the unfavorable adverse effects. The present study compared the two kinds of OCPs (monophasic; levonorgestrel (LNG)–ethinyl estradiol (EE) 150/30 versus triphasic; LNG–EE 50–75–125/30–40–30) for adverse effects and patient satisfaction.

Study design

A randomized clinical trial was performed on 314 women who used OCPs for the first time, as their contraception, for 6 months. Overall, 1884 cycles were studied. In the monophasic group (n = 159 who finally finished the study), monophasic pills LNG–EE 150/30 mcg, and in the triphasic group (n = 155 who finally finished the study), triphasic pills LNG–EE 50–75–125/30–40–30 mcg were used. Statistical analysis was performed using SPSS 10: Chi square test, Fisher exact test and Student's t-test were used.

Results

There were no significant differences between the two groups for common side effects, including nausea, headache, nervousness, facial hyperpigmentation (chloasma), and body weight (increase or decrease) but breakthrough bleeding and spotting (BTB/S) were less in the triphasic group, occurring in 30 cycles (18.86%) versus 10 cycles (6.45%), P = 0.009*. Patient satisfaction for the two OCPs was similar and high. The rates of side effects were low.

Conclusion

It seems that the monophasic and triphasic pills are similar according to patient satisfaction and side effects; therefore there is no benefit of one over the other except for BTB/S, for which triphasic is superior.     

Bu–Shen–Yi–Qi formula impairs cytotoxicity of NK cells by up-regulating IDO expression in trophoblasts

Recurrent spontaneous abortion (RSA) is a common health problem that affects about 5% of fertile women, when it occurs for unknown reasons, it is called unexplained recurrent spontaneous abortion (URSA). Traditional Chinese medicine, such as Bu–Shen–Yi–Qi formula which consists of Dangshen, Tusizi, Baizhu, Baishuo, Duzhong, Sangjisheng, Sugeng, and Tiaohuangqin, has played an invaluable role in the treatment of RSA since ancient times. However, the mechanism of how it takes effect is still not clear. To identify Bu–Shen–Yi–Qi formula could modulate immune condition at maternal-fetal interface via its effect on trophoblasts, HTR-8 of different treatment were co-cultured with peripheral or decidual natural killer (NK) cells, and the receptors such as NKP30 and NKP46 expression on NK cells were measured by flow cytometry (FCM). In this study, we found that herb medium could increase the IDO expression at appropriate concentrations. As an inhibitor of IDO, 1-MT could impair the inhibitory function of trophoblasts on NK cells. Furthermore, Bu–Shen–Yi–Qi formula could enhance the inhibitory function of trophoblasts on NK cells. In conclusion, Bu–Shen–Yi–Qi formula can inhibit NK cytotoxicity by up-regulating IDO expression in trophoblasts and play a role in the treatment of URSA patients.     

Comparison of maternal–and paternal–fetal attachment in Turkish couples

Objective

to compare maternal–fetal attachment (MFA) and paternal–fetal attachment (PFA) in terms of selected variables.

Design

cross-sectional study.

Setting

three training hospitals in Ankara, Turkey. The study was performed between December 2005 and March 2006.

Participants

a total of 144 pregnant women and 144 partners participated in the study; the response rate was 98%.

Findings

there was a statistically significant difference between MFA and PFA scores (p<0.001). A comparison of MFA and PFA scores according to the selected variables (education, employment status, planning of pregnancy, pregnancy risk status) revealed that the MFA scores for pregnant women were significantly higher than the PFA scores of their partners, except for unemployed partners. The MFA (ρ=−0.24, p<0.004) and PFA (ρ=−0.32, p<0.001) scores decreased with increasing age of both pregnant women and their partners.

Key conclusions and implications for practice

although partners have lower fetal attachment scores than pregnant women, it is important to recognise factors influencing the attachment of the mother and father towards their fetus. Prenatal midwives and nurses are in a unique position to assess attachment and to intervene to promote attachment behaviours.     

The Interest of Women with Mayer–Rokitansky–Küster–Hauser Syndrome and Laparoscopic Vecchietti Neovagina in Uterus Transplantation

Study Objective

The goal of this study was to assess a group of women with Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome with surgically created neovaginas in the interest of uterus transplantation (UTx) and to recruit the first group of applicants for a UTx trial.

Headache in late pregnancy: a symptom for Vogt–Koyanagi–Harada disease

Headache in late pregnancy is warning of the presence of severe and/or lethal disorders. Here, we present a case of Vogt–Koyanagi–Harada disease (VKH), in which headache was the preceding and predominant symptom. At 37 weeks of pregnancy, a Japanese 1-para woman with an uneventful pregnancy complained of severe headache and then blurred vision. Although we initially diagnosed this condition as pregnancy-associated retinal detachment, headache and blurred vision persisted after delivery. Eye anterior segment lesions appeared and VKH disease was diagnosed, with systemic steroid administration completely ameliorating both the headache and visual disturbance. Obstetricians must be aware that headache may be the first sign of VKH disease.     

Critical role of exosomes in sperm–egg fusion and virus-induced cell–cell fusion

In mammals, two integral membrane proteins, sperm IZUMO1 and egg CD9, regulate sperm–egg fusion, and their roles are critical, but yet unclear. Recent studies, however, indicate interesting connections between the sperm–egg fusion and virus-induced cell–cell fusion. First, CD9-containing exosome-like vesicles, which are released from wild-type eggs, can induce the fusion between sperm and CD9-deficient egg, even though CD9-deficient eggs are highly refractory to the fusion with sperm. This finding provides strong evidence for the involvement of CD9-containing, fusion-facilitating vesicles in the sperm–egg fusion. Secondly, there are similarities between the generation of retroviruses in the host cells and the formation of small cellular vesicles, termed exosomes, in mammalian cells. The exosomes are involved in intercellular communication through transfer of proteins and ribonucleic acids (RNAs) including mRNAs and microRNAs. These collective studies provide an insight into the molecular mechanism of membrane fusion events.     

Live birth from vitrified–warmed human oocytes fertilized with frozen–thawed testicular spermatozoa

A couple with male infertility due to non-obstructive azoospermia were referred to the fertility centre for treatment. Testicular biopsy was performed on the male partner and testicular samples were frozen. The female partner underwent ovarian stimulation and 31 mature oocytes were recovered by ultrasound-guided vaginal aspiration. Twelve oocytes were cryopreserved by the Cryotop vitrification method and 19 oocytes were inseminated by intracytoplasmic sperm injection (ICSI) using frozen–thawed testicular spermatozoa. Nine out of 19 oocytes were fertilized and the resulting embryos were cryopreserved by slow freezing. Four months later, two out of six thawed embryos were transferred, but no pregnancy resulted. One year later, the couple decided to attempt pregnancy using vitrified oocytes and frozen testicular spermatozoa. Six vitrified–warmed oocytes were injected with frozen–thawed testicular spermatozoa and four were fertilized. On the day of transfer, two cleavage stage embryos (4-cell, 2-cell) were obtained. Serum β-HCG test 14 days after embryo transfer was positive. Hormonal support for the established pregnancy was maintained with oestradiol and progesterone orally until 12 weeks of gestation. A healthy baby boy weighing 3.09 kg was delivered by elective Caesarean section at 38 weeks of gestation. This case report demonstrates that oocyte cryopreservation by the Cryotop vitrification method does not compromise oocyte developmental competence.     

Mayer–Rokitansky–Küster–Hauser Syndrome and 16p11.2 Recurrent Microdeletion: A Case Report and Review of the Literature

Background

Mayer–Rokitansky–Küster–Hauser syndrome (MRKH; Online Mendelian Inheritance in Man #277000) is a rare disorder of the female reproductive tract. Its etiology is still unknown for most patients, although the genetic background of this condition has been intensively studied. Chromosome 16p11.2 deletion syndrome (Online Mendelian Inheritance in Man #611913) is a well known recurrent deletion syndrome that can present with various clinical phenotypes, including developmental delay, intellectual disability, autism spectrum disorder, obesity, and an increased frequency of congenital defects.

Maternal–foetal attachment independently predicts the quality of maternal–infant bonding and post-partum psychopathology

Purpose: The aim of this study was to evaluate the association of maternal antenatal attachment and post-partum psychopathology, maternal–infant bonding, while checking for antenatal psychopathology, for lifetime psychiatric diagnosis and for the known risk factors for peripartum depression.

Methods: One hundred and six women recruited at the first month of pregnancy (T0) were evaluated with the structured interview for DSM-IV TR (SCID-I) to assess the presence of lifetime psychiatric diagnosis and with the Perinatal Depression Predictor Inventory-Revised (PDPI-R), the Edinburgh Postnatal Depression Scale (EPDS), and the State–Trait Anxiety Inventory (STAI). At the sixth month of pregnancy (T1) and at the first month post-partum (T2), all patients were evaluated with the PDPI-R, the EPDS, the STAI, at T1, with the Maternal Antenatal Attachment Scale (MAAS), and at T2 with the Maternal Postnatal Attachment Scale (MPAS).

Results: Multivariate regression analyses showed that maternal–foetal attachment was the variable most significantly associated with postnatal symptoms of depression and anxiety and with quality of maternal-infant attachment. The logistic regression analyses showed that antenatal attachment may predict postnatal depressive and anxiety symptoms (respectively, OR: 0.83 – IC [0.74???0.95], p?=?.005, OR: 0.88 – IC [0.79???0.98], p?=?.02), and the quality of maternal postnatal attachment (OR: 1.17 – IC [1.08???1.27], p?Conclusion: The quality of maternal–foetal bonding may independently predict the quality of maternal–infant attachment and post-partum depressive and anxiety symptoms. A comprehensive assessment of maternal risk factors for perinatal psychopathology during pregnancy should include the evaluation of antenatal attachment that could be modifiable by specific interventions promoting the quality of maternal bonding.     

Management of twin–twin transfusion syndrome

This paper presents a review of the diagnosis and treatment of twin-to-twin transfusion syndrome (TTTS). The incidence of fetal or neonatal mortality and preterm delivery in monochorionic twin pregnancies is substantially much higher than in dichorionic twin pregnancies due to TTTS. About 15% of all monochorionic twin pregnancies are affected by severe TTTS which is characterized by hypervolemia and polyhydramnios in one fetus and hypovolemia and anhydramnios in the other one. It is caused by vascular anastomoses within the shared placental system. With close surveillance without intervention, the majority of these pregnancies result in fetal death of both fetuses. Effective treatment is provided by intrauterine laser coagulation of the communicating vessels, allowing survival of at least one fetus in about 75% of the cases.