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Purpose of review Mayer-Rokitansky-Kuster-Hauser syndrome is undergoing new research outcomes involving genetics and management. Recent findings Recent literature supports a polygenic multifactorial genetic basis for the syndrome. Management is now predominantly by vaginal dilators and nonsurgical, but holistic. The future of uterine transplantation is discussed. Summary New developments open new possibilities for understanding the genetic basis of the disease, and research in this area will continue. Management in terms of fertility may have an added dimension if uterine transplantation and successful pregnancy outcome can be proven.

Key content Congenital anomalies of the genital tract are uncommon. Embryological knowledge is essential in diagnosis and management. Mayer–Rokitansky–Kuster–Hauser (MRKH) syndrome is best managed in tertiary centres by a multidisciplinary team. The more complex the obstructive disorder, the more specialist care is required. Ultrasound imaging is usually all that is required. Learning objectives To understand the relationship between embryology and congenital abnormalities. To gain ability to recognise those problems that need specialist care. To understand the need for a holistic approach to care in MRKH syndrome. Ethical issues Is failure to provide a multidisciplinary holistic approach acceptable medical care?

Background: Utero-vaginal agenesis, also called the Mayer-Rokitansky-Küster-Hauser Syndrome (MRKH), is a congenital abnormality of the female genital tract, characterized by the non-formation of the vagina and the uterus. It is a common cause of primary amenorrhoea. Little is known about the psychological impact and management of this condition. Method: We describe a specific model of the core negative psychological impact of diagnosis and medical treatment of MRKH and a cognitive-behavioural therapy of MRKH based on the model (CBT-MRKH). The Medical Research Council's (2002) framework for the development and evaluation of complex health interventions was used for intervention development and evaluation. Results: Evidence from a recent cross-sectional study and a small randomized controlled trial (RCT) provides preliminary support for the model and treatment (Heller-Boersma, Schmidt and Edmonds, in press; Heller-Boersma, Schmidt and Edmonds, 2007), and this is further validated by extensive qualitative material gathered over the course of the RCT from participants. Conclusions: The model and treatment described may also be applicable to a number of other congenital or acquired gynaecological conditions such as premature ovarian failure, breast cancer, early onset endometrial cancer, female genital mutilation, Turner's Syndrome, ovarian dys/agenesis or, Complete Androgen Insensitivity Syndrome, all of which have a psychological impact not dissimilar to MRKH in terms of these women's sense of self and femininity.

Background: Uterovaginal agenesis (Mayer-Rokitansky-Kuster-Hauser Syndrome; MRKH) is a congenital nonformation of the vagina and the uterus, but with normal ovaries. Objective: The authors investigated the psychological impact of this disorder, about which very little is known. Method: A group of 66 women with MRKH were compared with 31 control-group women on a range of self-rating scales assessing psychological distress and self-esteem. Results: Women with MRKH had significantly more pathological scores on some of the scales and subscales, such as phobic anxiety and psychoticism (interpersonal alienation), with a similar trend for sub- scales measuring depression and anxiety. Conclusion: MRKH has a lasting negative impact on affected women's level of psychological distress and self-esteem. (Psychosomatics 2009; 50:277-281)

Elevated serum lipoprotein(a) [Lp(a)] levels increase the risk of cardiovascular disease if levels of low-density lipoproteins (LDLs) are also high. The biological function of Lp(a) is unknown, but plasma levels may be elevated in inflammatory disease. Endometriosis is a common gynecologic disorder in which endometrial tissue is found outside of the lining of the uterine cavity. There is an immune component to this condition whereby the number of peritoneal macrophages is increased and the level of prostanoids and cytokines in peritoneal fluid is elevated. In the present study, we measured serum lipid, lipoprotein, and apolipoprotein levels in 29 women with endometriosis and in 29 matched healthy controls. Fasting serum triglyceride and apolipoprotein (apo) Al levels were higher in women with endometriosis (+28.1%, P < .001, and +12.3%, P < .01, respectively), but there were no significant differences in LDL or high-density lipoprotein (HDL) cholesterol levels. Serum Lp(a) levels were fivefold higher (P < .01) in the patients (median, 15.0 mg/dL; range, 0.05 to 60.0) than in controls (median, 3.1 mg/dL; range, 0.05 to 57.2). The distribution of apo(a) isoforms was similar in the two groups, but in women with endometriosis the individual apo(a) isoforms tended to be associated with higher serum Lp(a) levels. Endometriosis may represent a relatively common condition in which to investigate the role of Lp(a) in human metabolism.

Objective To determine whether treatment of endometriosis with a GnRH analogue (GnRH-a; goserelin) combined with continuous estrogen and progestogen hormone replacement therapy (HRT) would prevent the hypoestrogenic effects, including loss of bone density, while maintaining efficacy for treatment of endometriosis. Design Randomized controlled trial. Patients Fifty premenopausal women with laparoscopically diagnosed endometriosis (revised American Fertility Score for endometriosis implants equal to four or greater) and significant symptoms of dysmenorrhoea, dyspareunia, and other pelvic pain. Intervention Patients were randomized to receive either goserelin alone, 3.6mg SC depot every 4weeks for 24weeks, or goserelin, 3.6mg SC depot every 4weeks for 24weeks, plus HRT (25 μ g transdermal 17 β E 2 daily and 5mg medroxyprogesterone acetate orally daily) for 20weeks commencing with the second goserelin injection. Results There was a significant reduction in the extent of pelvic endometriosis in both groups, with no difference between the groups. Both groups experienced an improvement in symptoms and signs, again with no difference between groups. Hypoestrogenic side effects of hot flushes and loss of libido were significantly less in the group that received HRT. The amount of bone mineral density loss was significantly less in the HRT group at the lumbar spine, although it was not prevented completely. Conclusion The addition of HRT to GnRH-a for the treatment of endometriosis did not reduce the efficacy of treatment, and adverse hypoestrogenic effects were decreased, although not abolished.

Objective To understand the efficacy of vaginal dilators in the management of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome. Design Retrospective sequential study. Setting Hospital. Patient(s) 245 women. Intervention(s) Vaginal dilators. Main Outcome Measure(s) Functional vaginal length and sexual satisfaction. Result(s) Of the patients who completed the program, 232 (94.9%) achieved a successful vaginal length (defined as greater than 6 cm in length and maximum width throughout the vagina and especially at the apex) and sexual function. When the program was completed by all patients, 100% of patients were successful. Conclusion(s) Vaginal dilator therapy is the treatment of first choice for creation of the vagina in MRKH syndrome, and the success rates suggest that surgery is rarely, if ever, required.

Objective The purpose of this study was to report pregnancy outcome and complication rates for women with recurrent late pregnancy loss who were treated with preconception transabdominal cervicoisthmic cerclage. Study design This was a case note review of 19 women at high risk for second trimester loss and early preterm delivery who were treated with preconception transabdominal cervicoisthmic cerclage at Queen Charlotte's and Chelsea Hospital from 1994 to 2003. Results Preconception transabdominal cervicoisthmic cerclage was associated with a postoperative fetal survival rate of 100% for pregnancies that reached >12 weeks of gestation, compared with a preoperative fetal survival rate of 12%. There were no significant intraoperative, antenatal, intrapartum or neonatal complications. Conclusion Within this case series, preconception transabdominal cervicoisthmic cerclage was a safe alternative to transabdominal cervicoisthmic cerclage that was performed in pregnancy with no risk to a fetus. It should be considered in appropriate cases in women seen for prepregnancy counseling.

While congenital malformations of the genital tract are not common, the sequelae of their presence can be serious. The practising gynaecologist must be aware of the range of congenital abnormalities that may occur and the symptoms that may result from them. Failure to manage these patients correctly may have long-term sequelae for their psychological, sexual and reproductive health. The involvement of a multi-disciplinary team in dealing with these patients is imperative, and preparation for surgery-particularly in congenital malformations of the vulva and the vagina-is imperative if the long-term sexual function in these patients is to be fulfilled. Surgical correction of vulval abnormalities in adolescence is related solely to sexual function as most of the reconstructive surgery is done in childhood. For the management of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome, the recommendation is now that passive dilatation by Franks' technique is the treatment of first choice and only if that fails should surgical approaches be embarked upon. The results of the surgery are similar in all techniques and the particular surgical centre will have its own preference of which technique it adopts. Congenital absence of the cervix is a complex surgical problem and should be dealt with solely in centres with expertise.

Epithelial tumors have rarely been reported in association with true hermaphroditism. We report the third case of a benign cystadenoma in a true hermaphrodite with a discussion of the differential diagnosis of a pelvic mass in these individuals.

Objective To undertake a survey of external cephalic version (ECV) in the United Kingdom and Republic of Ireland. Design In June 1995 every consultant obstetrician and gynaecologist in the United Kingdom and Republic of Ireland was sent a postal questionnaire which asked whether ECV was routinely performed for breech presentation after 37 weeks of gestation, assuming no contraindications. If consultants did not perform ECV, a supplementary question enquired whether they referred patients to a colleague who would perform ECV. The questionnaires were colour coded for country and dispatched from the Postgraduate Education Department of the Royal College of Obstetricians and Gynaecologists (RCOG). Results Overall, 78% of questionnaires were returned. The percentage of consultants routinely practising ECV in each country was as follows: Northern Ireland 82%; Scotland 64%; Republic of Ireland 64%; England 43%; and Wales 41%. When these figures were compared with the latest RCOG Annual Statistical Returns for breech delivery and caesarean section for breech delivery, there was an inverse correlation between the percentage of obstetricians performing ECV in any one country and the incidence of breech delivery (P < 0.001). There was a similar inverse correlation for the percentage of obstetricians performing ECV and the caesarean section rate for breech delivery (P < 0.001). Conclusion Although postal survey results are not necessarily an accurate reflection of what happens in clinical practice, these data are supported by evidence from the Cochrane Database of Systematic Reviews indicating that ECV after 37 weeks reduces the incidence of both breech delivery and caesarean section for breech delivery.

Thirty-three patients with unexplained infertility underwent a total of 42 programmed superovulation cycles in a gamete intrafallopian transfer (GIFT) programme. The date of oocyte retrieval was decided in advance and the cycle preceding oocyte collection was modified with norethisterone from mid-cycle until 14 days before the scheduled laparoscopy. This was followed by a fixed schedule superovulation regimen. Serum oestradiol, progesterone and luteinizing hormone were monitored and the data analysed retrospectively. A single ultrasound scan was performed on the day of laparoscopy to exclude ovulation. Thirty-eight GIFT procedures were performed, resulting in 11 (29%) clinical pregnancies of which four twin and four singleton pregnancies are continuing. There was a significant correlation between the oestradiol response pattern and the maturity of oocytes retrieved, the fertilization rate of supernumerary oocytes and the pregnancy rate. Programmed cycles may be conveniently combined with GIFT, and basic endocrinological monitoring can be used to identify cycles with a poor prognosis before laparoscopy.

Adolescent girls are a particularly sensitive group when any abnormality arises. The transformation from girl to woman involves fundamental changes in body shape and image, allowing the development of the fully mature and fertile woman. These pubertal changes involve growth, and the appearance of secondary sexual characteristics, subsequent to the maturation of the hypothalamo-pituitary--ovarian axis. The fact that the changes vary from person to person leads to management problems, as most girls judge their development through their peers. Failure to reach expected landmarks of development, especially the establishment of the menstrual cycle, can cause great distress and a thorough understanding of pubertal development is essential if the doctor is going to manage these problems effectively. NEUROENDOCRINOLOGY OF PUBERTY The release of the pituitary gonadotrophins is controlled by gonadotrophinreleasing hormone (GnRH) and the amplitude and frequency of its episodic secretion is controlled by the hypothalamus. The onset of puberty results from an increase in frequency and amplitude of GnRH from a centre in the hypothalamus called the pulse generator. Animal studies suggest that this is located in the arcuate nucleus of the mediobasal hypothalamus, and it is capable of functioning independently of neural connections (Plant, 1987). During fetal life, the pattern of hypothalamo-pituitary-ovarian activity is fascinating. Although data on the human are scant, animal studies suggest that GnRH, luteinizing hormone (LH) and follicle stimulating hormone (FSH) are detectable by 10 weeks gestation (Grumbach and Kaplan, 1976) and the pituitary portal system is intact by 14 weeks. The release of FSH and LH increases until mid-gestation, presumably because there is very little ovarian activity and thus no inhibitory feedback from oestradiol-17t3. The levels of FSH and LH are higher in female than male fetuses because the higher levels of circulating testosterone in the male fetus lead to negative feedback.

Measurements of human chorionic gonadotropin (hCG) have been used to assess early embryo loss in women. Urine samples obtained from a control group of sterilized women with normal ovulatory menstrual cycles enabled a concentration limit of 56 IU/l to be determined so that any nontrophoblastic hCG or other cross-reacting compounds could be accounted for. One hundred ninety-eight ovulatory cycles were collected from a normal population attempting to conceive. Fecundability was 22% to 27% for this population. The risk of pregnancy in exposed ovulatory cycles was 59.6%; however, 61.9% of conceptuses will be lost prior to 12weeks. Most of these losses (91.7%) occur subclinically, without the knowledge of the mother.