Marc R. Laufer

Web-Based Survey of Fertility Issues in Young Women With Breast Cancer

PURPOSE Young women with breast cancer often seek advice about whether treatment will affect their fertility. We sought to gain a better understanding of womens attitudes about fertility and how these concerns affect decision making. PATIENTS AND METHODS We developed a survey about fertility issues for young women with a history of early-stage breast cancer. The survey was e-mailed to all registered Young Survival Coalition survivor members (N = 1,702). E-mail reminders were used. RESULTS Six hundred fifty-seven eligible respondents completed the survey. Mean age at breast cancer diagnosis was 32.9 years; mean current age was 35.8 years. Ninety percent of women were white; 62% were married; 76% were college graduates. Stages at diagnosis were as follows: 0, 10%; I, 27%; II, 47%; III, 13%. Sixty-two percent of women were within 2 years of diagnosis. Fifty-seven percent recalled substantial concern at diagnosis about becoming infertile with treatment. In multivariate logistic regression, greater concern about infertility was associated with wish for children/more children (odds ratio [OR], 120; P < .0001), number of prior pregnancies (OR, 0.78; P = .01), and prior difficulty conceiving (OR, 1.86; P = .08). Twenty-nine percent of women reported that infertility concerns influenced treatment decisions. Seventy-two percent of women reported discussing fertility concerns with their doctors; 51% felt their concerns were addressed adequately. Women seemed to overestimate their risk of becoming postmenopausal with treatment. CONCLUSION Fertility after treatment is a major concern for young women with breast cancer. There is a need to communicate with and educate young patients regarding fertility issues at diagnosis and a need for future research directed at preserving fertility for young breast cancer survivors.

Prevalence of Endometriosis in Adolescent Girls With Chronic Pelvic Pain Not Responding to Conventional Therapy

STUDY OBJECTIVE To evaluate adolescent girls with chronic pelvic pain not responding to conventional medical therapy, using advances in operative laparoscopy to determine endometriosis prevalence, clinical stage, and type of lesion. DESIGN A descriptive retrospective study of subjects who (1) were referred for the evaluation of chronic pelvic pain, (2) did not respond to a nonsteroidal anti-inflammatory drug and an oral contraceptive pill, and (3) underwent a laparoscopy to determine the etiology of the pelvic pain. SETTING Patients referred to a surgical gynecologist in a pediatric/adolescent gynecology and reproductive endocrine academic practice. PARTICIPANTS All patients younger than 22 years of age with chronic pelvic pain. INTERVENTION Operative laparoscopy to determine the etiology of the chronic pelvic pain. MAIN OUTCOME MEASURES Operative laparoscopy results including stage and description of endometriosis. RESULTS More than two thirds of the study population (69.6%) was found to have endometriosis. All subjects had either stage I or II as determined by the American Fertility Societys classification system. The nature of the pain in the 32 subjects with endometriosis was both acyclic and cyclic in 20 (62.5%), acyclic only in 9 (28.1%), and cyclic only in 3 (9.4%). Other presenting symptoms included gastrointestinal in 11 (34.3%), urinary in 4 (12.5%), and irregular menses in 3 (9.4%). CONCLUSIONS Adolescents with chronic pelvic pain not responding to medical therapy have a high rate of endometriosis and should be referred to a gynecologist who is experienced with the subtle laparoscopic findings of atypical endometriosis to diagnose the etiology of the pelvic pain and initiate appropriate therapy.

Pregnancy outcomes in unicornuate uteri: a review

OBJECTIVE To elucidate the impact of unicornuate uteri on pregnancy outcomes as evidenced by historical and contemporary studies. DESIGN Publications related to unicornuate uterus were identified through MEDLINE and other bibliographic databases. SETTING Literature review in an academic research environment. PATIENT(S) Premenopausal women with confirmed unicornuate uterus based on surgical or radiological evidence who were undergoing gynecologic and obstetrical care. INTERVENTION(S) None. MAIN OUTCOME MEASURE(S) Rates of ectopic pregnancy, miscarriage, preterm delivery, intrauterine fetal demise, and live birth. RESULT(S) Our review revealed 20 studies of varying size and design that had commented on pregnancy outcomes in unicornuate uteri. These studies ranged in date from 1953 to 2006 and from a sample size of one to 55 patients. In total, we examined 290 women with unicornuate uterus reported in the literature. Of those patients, 175 conceived, to carry a total of 468 pregnancies. Incidence data in the literature reveal that unicornuate uterus occurs in 1:4020 women in the general population; the anomaly, however, is significantly more common in infertile women, as in women with repeated poor outcomes. Our review revealed rates of 2.7% ectopic pregnancy, 24.3% first trimester abortion,9.7% second trimester abortion, 20.1% preterm delivery, 3.8% intrauterine fetal demise, and 51.5%live birth [corrected]. CONCLUSION(S) Unicornuate uterus is a Mullerian anomaly with prognostic implications for poorer outcomes during pregnancy. The rates of adverse outcomes have likely been historically overestimated. Although it is unclear whether interventions before conception or early in pregnancy such as resection of the rudimentary horn and prophylactic cervical cerclage decidedly improve obstetrical outcomes, current practice suggests that such interventions may be helpful. Women presenting with a history of this anomaly should be considered high-risk obstetrical patients.

Sonographic findings of ovarian torsion in children

BackgroundThe clinical diagnosis of ovarian torsion is challenging and findings on pelvic sonography can be pivotal in making the correct diagnosis.ObjectiveTo determine the sonographic characteristics in children of surgically and pathologically proven ovarian torsion.Material and methodsWe performed a retrospective review of the sonograms and medical records of 41 patients with surgically and pathologically proven ovarian torsion at a pediatric hospital between 1994 and 2005. All sonograms were reviewed retrospectively by two pediatric radiologists with attention to the size, echotexture, location, presence of peripheral round cysts, and evidence of flow on Doppler sonography within the torsed ovary. The amount of free pelvic fluid was also recorded.ResultsThe most common sonographic finding of ovarian torsion was an enlarged ovary/adnexal mass. All torsed adnexa were larger than the normal contralateral ovary, with the median volume 12 times that of the normal contralateral side. The majority (61%, n = 25) of the torsions occurred on the right. Color flow, either venous or arterial, was present in 62% (n = 21/34) of the torsed ovaries for which flow on Doppler sonography was documented. In 63% of the torsed ovaries (n = 26), the torsed adnexa appeared heterogeneous. Ovarian or para-ovarian pathology that may have acted as a potential lead point was present in 55% (n = 24) of torsed ovaries. The volume ratio of the torsed to normal ovary can predict the presence of an ovarian mass within the torsed ovary. In 70% of torsed ovaries with a volume ratio greater than 20, an ovarian mass was present, and in approximately 90% of those with a volume ratio less than 20, an internal mass was absent.ConclusionAn enlarged heterogeneous appearing ovary is the most common finding in ovarian torsion. The presence or absence of flow by Doppler sonography is not helpful in the diagnosis. The volume ratio of the torsed to the normal ovary can predict the presence of an internal mass within the torsed adnexa.

Adolescent endometriosis: diagnosis and treatment approaches.

OBJECTIVES To review the etiologies, diagnosis, and treatment options of adolescent endometriosis. METHODS Review of publications relating to adolescent endometriosis. RESULTS Endometriosis occurs in adolescents as young as 8 years of age; furthermore, there have been documented cases of endometriosis occurring prior to menarche. Adolescents presenting with pelvic pain are treated with cyclic combination oral contraceptive pills and nonsteroidal anti-inflammatory agents. If the pain does not respond to these therapies, then in adolescents as in adults, an operative laparoscopy is recommended for the diagnosis and surgical management of endometriosis. The operating gynecologist should be familiar with the appearance of the complete spectrum of various morphologies of endometriosis, as adolescents tend to have clear, red, white, and/or yellow-brown lesions more frequently than black or blue lesions. Subtle clear lesions of endometriosis may be better visualized by filling the pelvis with irrigation fluid so that the clear lesions can be appreciated in a three-dimensional appearance. Young women who are found to have endometriosis by laparoscopy may present with acyclic, cyclic, and constant pelvic pain. Adolescents with pelvic pain not responding to conventional medical therapy have approximately a 70% prevalence of endometriosis. It is known that endometriosis is a progressive disease and since there is no cure, adolescents with endometriosis require long-term medical management until the time in their lives when they have completed childbearing. Psychosocial support is extremely important for this population of young women with endometriosis. CONCLUSIONS Endometriosis occurs in adolescents, and presenting symptoms may vary from those seen in adult women with the disease. All health care providers must be aware of the existence of adolescent endometriosis. They should also be aware of the presenting symptoms so that the adolescent can be appropriately referred to a gynecologist comfortable with medical and surgical treatment options in this patient population. If laparoscopy is to be undertaken, the gynecologist must be prepared not only to diagnose but to surgically manage endometriosis. In addition, the subtle laparoscopic findings of endometriosis in adolescents must be recognized for an appropriate diagnosis. Long-term medical therapy will hopefully decrease pain and the progression of the disease, thus decreasing the risk of advanced-stage disease and infertility.

Japanese-Style Acupuncture for Endometriosis-Related Pelvic Pain in Adolescents and Young Women: Results of a Randomized Sham-Controlled Trial

STUDY OBJECTIVE To assess feasibility, and collect preliminary data for a subsequent randomized, sham-controlled trial to evaluate Japanese-style acupuncture for reducing chronic pelvic pain and improving health-related quality of life (HRQOL) in adolescents with endometriosis. DESIGN Randomized, sham-controlled trial. SETTINGS Tertiary-referral hospital. PARTICIPANTS Eighteen young women (13-22y) with laparoscopically-diagnosed endometriosis-related chronic pelvic pain. INTERVENTIONS A Japanese style of acupuncture and a sham acupuncture control. Sixteen treatments were administered over 8 weeks. MAIN OUTCOME MEASURES Protocol feasibility, recruitment numbers, pain not associated with menses or intercourse, and multiple HRQOL instruments including Endometriosis Health Profile, Pediatric Quality of Life, Perceived Stress, and Activity Limitation. RESULTS Fourteen participants (out of 18 randomized) completed the study per protocol. Participants in the active acupuncture group (n = 9) experienced an average 4.8 (SD = 2.4) point reduction on a 11 point scale (62%) in pain after 4 weeks, which differed significantly from the control groups (n = 5) average reduction of 1.4 (SD = 2.1) points (P = 0.004). Reduction in pain in the active group persisted through a 6-month assessment; however, after 4 weeks, differences between the active and control group decreased and were not statistically significant. All HRQOL measures indicated greater improvements in the active acupuncture group compared to the control; however, the majority of these trends were not statistically significant. No serious adverse events were reported. CONCLUSION Preliminary estimates indicate that Japanese-style acupuncture may be an effective, safe, and well-tolerated adjunct therapy for endometriosis-related pelvic pain in adolescents. A more definitive trial evaluating Japanese-style acupuncture in this population is both feasible and warranted.

Preserving ovarian function in patients receiving cyclophosphamide.

CA Slater, MH Liang*, JW McCune, GM Christman and MR Laufer Department of Medicine, Division of Rheumatology, Immunology and Allergy, Harvard Medical School, Brigham and Womens Hospital, Boston, Massachusetts; Division of Rheumatology, Division of Obstetrics and Gynecology, University of Michigan Medical Center, University of Michigan Medical School, Ann Arbor, Michigan; and Division of Gynecology, Department of Surgery, Division of Adolescent=Young Adult Medicine, Department of Medicine, Childrens Hospital; Division of Reproductive Endocrinology, Department of Obstetrics and Gynecology, Brigham and Womens Hospital; Department of Obstetrics, Gynecology and Reproductive Biology, Harvard Medical School, Boston, Massachusetts, USA

World Endometriosis Research Foundation Endometriosis Phenome and Biobanking Harmonization Project: III. Fluid biospecimen collection, processing, and storage in endometriosis research

Objective To harmonize standard operating procedures (SOPs) and standardize the recording of associated data for collection, processing, and storage of human tissues relevant to endometriosis. Design An international collaboration involving 34 clinical/academic centers and three industry collaborators from 16 countries on five continents. Setting In 2013, two workshops were conducted followed by global consultation, bringing together 54 leaders in endometriosis research and sample processing from around the world. Patient(s) None. Intervention(s) Consensus SOPs were based on: 1) systematic comparison of SOPs from 24 global centers collecting tissue samples from women with and without endometriosis on a medium or large scale (publication on >100 cases); 2) literature evidence where available, or consultation with laboratory experts otherwise; and 3) several global consultation rounds. Main Outcome Measure(s) Standard recommended and minimum required SOPs for tissue collection, processing, and storage in endometriosis research. Result(s) We developed “recommended standard” and “minimum required” SOPs for the collection, processing, and storage of ectopic and eutopic endometrium, peritoneum, and myometrium, and a biospecimen data collection form necessary for interpretation of sample-derived results. Conclusion(s) The EPHect SOPs allow endometriosis research centers to decrease variability in tissue-based results, facilitating between-center comparisons and collaborations. The procedures are also relevant to research into other gynecologic conditions involving endometrium, myometrium, and peritoneum. The consensus SOPs are based on the best available evidence; areas with limited evidence are identified as requiring further pilot studies. The SOPs will be reviewed based on investigator feedback and through systematic triannual follow-up. Updated versions will be made available at: http://endometriosisfoundation.org/ephect.

Congenital absence of the vagina: in search of the perfect solution. When, and by what technique, should a vagina be created?

PURPOSE OF REVIEW To review the Mayer-von Rokitansky-Küster-Hauser syndrome and to address means of diagnosis, patient education and counselling. The timing of, and vast options for, creation of a functional vaginal are also discussed. RECENT FINDINGS The diagnosis of Mayer-von Rokitansky-Küster-Hauser usually occurs during an evaluation of primary amenorrhea. Counselling and support are of great importance for affected young women and their families. Educational materials have increased with the availability of Internet web sites and there is a vast number of options for creation of a functional vagina; most international centers promote the utilization of vaginal dilators. SUMMARY Young girls, adolescents and women with Mayer-von Rokitansky-Küster-Hauser should be offered a comprehensive evaluation, and presented with information regarding all options for management and support. Ongoing psycho-social and educational support is extremely important. International centers that focus on congenital anomalies of the reproductive tract should be developed. These centers of excellence will facilitate long-term follow up studies to improve patient care and evidence based medical options.

Should Progressive Perineal Dilation be Considered First Line Therapy for Vaginal Agenesis

PURPOSE In women with vaginal agenesis progressive perineal dilation provides a minimally invasive method to create a functional vagina without the attendant risks or complications of traditional surgical options. We report our 12-year experience with this technique. MATERIALS AND METHODS Patients with vaginal agenesis treated at our institution were analyzed retrospectively and followed prospectively using case report forms and semistructured interviews. Patients diagnosed with vaginal agenesis were counseled on vaginal reconstruction options. Those electing progressive perineal dilation were instructed on the proper use of vaginal dilators by one of us (MRL) and advised to dilate 2 or 3 times daily for 20 minutes. All patients received physician, nursing and social work education and counseling. Parameters reviewed included primary diagnosis, start and end of vaginal dilation, dilation frequency, dilator size, sexual activity and whether the patient experienced pain or bleeding with dilation or sexual activity. Functional success was defined as the ability to achieve sexual intercourse, vaginal acceptance of the largest dilator without discomfort or a vaginal length of 7 cm. Univariate and multivariate analysis was performed to identify factors associated with successful neovaginal creation. RESULTS From 1996 to 2008 we enrolled 69 females with vaginal agenesis in a progressive perineal dilation program. The primary diagnosis was Mayer-Rokitansky-Küster-Hauser syndrome in 64 patients. Mean age at the start of vaginal dilation was 17.5 years (range 14 to 35) Mean followup was 19 months (range 0 to 100). Four patients (5.7%) were lost to followup. In 7 of the remaining 65 patients (12%) treatment failed due to noncompliance and 50 (88%) achieved functional success at a median of 18.7 months. Patients who dilated frequently (once daily or greater) achieved a functional neovagina at a mean +/- SD of 4.3 +/- 2.4 months. Functional success correlated positively with frequent (once daily or greater) dilation and the initiation of sexual activity. Complications were minor. Three patients reported infrequent pain and 2 reported a single episode of bleeding with dilation. A total of 18 sexually active patients reported satisfactory intercourse without dyspareunia. CONCLUSIONS Progressive perineal dilation for neovaginal creation is a valuable, minimally invasive therapy to create a functional vagina with a high success rate and a much lower complication rate than that in published surgical series. Given these findings, progressive perineal dilation should be offered as first line therapy in adolescents with a congenitally absent vagina.