Jennifer E. Dietrich

Evaluation and management of acute menorrhagia in women with and without underlying bleeding disorders: consensus from an international expert panel

Acute menorrhagia is a common gynecological disorder. Prevalence is high among women with inherited bleeding disorders and recent guidance for optimal management is lacking. Following a comprehensive review of the literature, an international expert panel in obstetrics, gynecology and hematology reached consensus on recommendations regarding the management of acute menorrhagia in women without a diagnosed bleeding disorder, as well as in patients with von Willebrand disease, platelet function disorders and other rare hemostatic disorders. The causes and predictors of acute menorrhagia are discussed and special consideration is given for the treatment of women on anticoagulation therapy. This review and accompanying recommendations will provide guidance for healthcare practitioners in the emergency management of acute menorrhagia.

State of the art review in gonadal dysgenesis: challenges in diagnosis and management

Gonadal dysgenesis, a condition in which gonadal development is interrupted leading to gonadal dysfunction, is a unique subset of disorders of sexual development (DSD) that encompasses a wide spectrum of phenotypes ranging from normally virilized males to slightly undervirilized males, ambiguous phenotype, and normal phenotypic females. It presents specific challenges in diagnostic work-up and management. In XY gonadal dysgenesis, the presence of a Y chromosome or Y-chromosome material renders the patient at increased risk for developing gonadal malignancy. No universally accepted guidelines exist for identifying the risk of developing a malignancy or for determining either the timing or necessity of performing a gonadectomy in patients with XY gonadal dysgenesis. Our goal was to evaluate the literature and develop evidence-based medicine guidelines with respect to the diagnostic work-up and management of patients with XY gonadal dysgenesis. We reviewed the published literature and used the Grading of Recommendation, Assessment, Development, and Evaluation (GRADE) system when appropriate to grade the evidence and to provide recommendations for the diagnostic work-up, malignancy risk stratification, timing or necessity of gonadectomy, role of gonadal biopsy, and ethical considerations for performing a gonadectomy. Individualized health care is needed for patients with XY gonadal dysgenesis, and the decisions regarding gonadectomy should be tailored to each patient based on the underlying diagnosis and risk of malignancy. Our recommendations, based on the evidence available, add an important component to the diagnostic and management armament of physicians who treat patients with these conditions.

Von Willebrand disease: key points from the 2008 National Heart, Lung, and Blood Institute guidelines.

UNLABELLED Von Willebrand disease (VWD) is the most common inherited bleeding disorder and may affect as many as one in 100 women. The condition results from a deficiency, dysfunction, or absence of von Willebrand factor (VWF). In women, the most common symptom of VWD is menorrhagia. Of women with menorrhagia, 5-20% have been found to have previously undiagnosed VWD. Besides menorrhagia, women with VWD are more likely to experience other conditions that manifest with abnormal reproductive tract bleeding. The patient with a suspected bleeding disorder should be referred to a hemophilia treatment center or hematologist with expertise in bleeding disorders for definitive diagnosis. After diagnosis, the first choice of therapy for the management of menorrhagia in adolescents or adult females who do not desire child bearing is still hormonal contraceptives. Women who fail hormonal contraceptives, yet desire future child bearing, and women who desire pregnancy are candidates for hemostatic therapy, which is generally reserved for patients with VWF levels less than 50 international units/dL. During pregnancy, VWF levels rise, frequently obviating the need for hemostatic therapy at the time of delivery. Minor procedures can be managed with 1-desamino-8-D-arginine vasopressin, antifibrinolytic medication, or both, but major surgery or childbirth requires replacement with VWF and should be conducted in a center with available hematologists, anesthesiologists, pharmacists, and laboratory support experienced in the management of bleeding disorders. LEVEL OF EVIDENCE III.

Obstructive Reproductive Tract Anomalies

BACKGROUND Approximately 7% of girls will have an anatomic abnormality in their reproductive tract, diagnosed before or after puberty. OBJECTIVE It is important for providers to be aware of the obstructive reproductive tract conditions, the way in which various conditions present, and the way in which such conditions should be managed. DESIGN Systematic review of the literature using the GRADE evidence system. RESULTS There is limited data in most areas of obstructive reproductive tract anomalies; however, some retrospective and prospective series with small numbers are still useful to guide clinical practice. CONCLUSIONS Recommendations are based on limited or inconsistent scientific evidence. Recommendations are based primarily on consensus and expert opinion.

Consensus in Guidelines for Evaluation of DSD by the Texas Children's Hospital Multidisciplinary Gender Medicine Team

The Gender Medicine Team (GMT), comprised of members with expertise in endocrinology, ethics, genetics, gynecology, pediatric surgery, psychology, and urology, at Texas Childrens Hospital and Baylor College of Medicine formed a task force to formulate a consensus statement on practice guidelines for managing disorders of sexual differentiation (DSD) and for making sex assignments. The GMT task force reviewed published evidence and incorporated findings from clinical experience. Grading of Recommendations, Assessment, Development, and Evaluation (GRADE) was used to assess the quality of evidence presented in the literature for establishing evidence-based guidelines. The task force presents a consensus statement regarding specific diagnostic and therapeutic issues in the management of individuals who present with DSD. The consensus statement includes recommendations for (1) laboratory workup, (2) acute management, (3) sex assignment in an ethical framework that includes education and involvement of the parents, and (4) surgical management.

An update on adenomyosis in the adolescent.

Purpose of review Limited evidence is available on the diagnosis and management of adenomyosis in adolescents. This review highlights the postulated pathophysiologic mechanisms, the prevalence of the condition among adult women and new reports of adenomyosis or adenomyotic cysts occurring in adolescents. Diagnostic criteria as well as treatment options are discussed. Recent findings Very few cases of adenomyosis conditions are reported in the literature, and management schemes differed with regard to medical versus surgical approaches. It is clear from reports in adolescents presenting with severe refractory dysmenorrhea that MRI can help establish a diagnosis of adenomyosis, possibly avoiding or delaying surgery to allow for medical management in some cases. Summary Adenomyosis may be present during adolescence. Because mechanisms of disease appear to be similar, goals of treatment in the adolescent are toward fertility preservation. Medical management appears to be a good option for certain types of adenomyosis, although surgery may be appropriate in the case of well circumscribed adenomyotic cysts, adenomyomas or noncommunicating horns.

The Utility of Ultrasound and Magnetic Resonance Imaging versus Surgery for the Characterization of Müllerian Anomalies in the Pediatric and Adolescent Population

STUDY OBJECTIVE To evaluate the utility of transabdominal ultrasound and magnetic resonance imaging in the evaluation of American Society for Reproductive Medicine (†)(ASRM)-classified müllerian anomalies compared to surgical findings in the pediatric and adolescent population. DESIGN Retrospective chart review. SETTING Tertiary academic center. PARTICIPANTS Thirty-eight patients with müllerian anomalies seen in our pediatric and adolescent gynecology clinic were identified both on the basis of ICD-9 codes and having magnetic resonance imaging at Texas Childrens Hospital between 2004 and 2009. INTERVENTIONS None. MAIN OUTCOMES MEASURE Correlation among transabdominal ultrasound and magnetic resonance imaging findings with surgical findings. RESULTS Mean age was 12.2 (± 4.1) years. Twenty-eight patients underwent magnetic resonance imaging and required surgical intervention, and 88.5% demonstrated correlative consistency with surgical findings. Twenty-two patients underwent ultrasound, magnetic resonance imaging, and surgery, which revealed consistency among ultrasound and surgical findings (59.1%) and consistency among magnetic resonance imaging and surgical findings (90.9%). In ASRM diagnoses evaluated by magnetic resonance imaging, surgical findings correlated in 92% (Pearson 0.89). Overall, 55.2% of patients had a renal malformation. CONCLUSIONS Magnetic resonance imaging is the gold standard imaging modality for müllerian anomalies and is an effective technique for noninvasive evaluation and accurate classification of the type of anomaly in the pediatric and adolescent population. Magnetic resonance imaging should be considered as an adjunct to transabdominal ultrasound to evaluate müllerian anomalies.

Management of heavy menstrual bleeding in adolescents.

Purpose of review Heavy menstrual bleeding (HMB) is an extremely common problem among adolescents. This article reviews the differential diagnosis and clinical presentation. Additionally, we aim to present the most up-to-date guidelines for evaluation and treatment. Recent findings Bleeding disorders are now recognized as a common cause for menorrhagia. The recommended laboratory evaluation has evolved in the last few years. Most forms of hormonal contraception, including the levonorgestrel intra-uterine device, are effective and have been studied in adolescents. Summary HMB is prevalent in the adolescent population and is associated with serious complications. Laboratory analysis to rule out bleeding disorders should be considered. Medical management, the cornerstone of treatment, has been proven to be safe and effective in this population.

Juvenile Granulosa Cell Ovarian Tumor: A Case Report and Review of Literature

BACKGROUND Juvenile granulosa cell tumors (JGCT) are rare ovarian tumors that frequently present with precocious puberty. Presentation in infants less than a year of age is also rare. CASE We describe a 10-month-old infant who presented with both premature thelarche and adrenarche due to JGCT. Laboratory evaluation revealed classic elevation of estradiol and inhibin B, and less classic elevation of total and free testosterone. Oophorectomy and staging resulted in a diagnosis of Stage IA JGCT. SUMMARY AND CONCLUSION Survival rates are >95% among patients diagnosed under 10 years of age. Tumor recurrence is rare but can occur as late as 48 months. Therefore, tumor surveillance is warranted for patients with even a Stage IA JGCT and involves monitoring serial inhibin B levels along with intermittent imaging.

Oral Tranexamic Acid versus Combined Oral Contraceptives for Adolescent Heavy Menstrual Bleeding: A Pilot Study

STUDY OBJECTIVE To compare the efficacy of oral tranexamic acid (TA) with combined oral contraceptives (COC) in reducing menstrual blood loss (MBL) and improving quality of life in adolescent heavy menstrual bleeding (HMB). DESIGN, SETTING, AND PARTICIPANTS A prospective randomized crossover trial with 17 postmenarchal girls aged 21 years and younger with HMB who were seen at our institution. INTERVENTIONS Patients were randomized to group A (TA arm) or group B (COC arm), each for 3 cycles, with crossover to the second arm after 1-month washout. MAIN OUTCOME MEASURES The primary end points were difference in improvement in MBL and QOL, from baseline to end of each therapy. RESULTS Seventeen patients were enrolled (mean age 14.2 years, range 11.7 to 16.8 years). Nine patients completed both arms; 8 patients withdrew from the study due to adverse events or noncompliance. Compared with baseline, significant improvement (P < .05) was demonstrated by TA and COC in MBL (mean Pictorial Blood Assessment Chart score decrease: TA, 536.4; COC, 430.6) and quality of life (mean Pediatric Quality of Life Inventory(TM) version 4.0 Generic Scales score increase: TA, 15.6; COC, 16.75), but no significant difference was noted between TA and COC (P > .05). There was statistically significant reduction in the length of menstrual cycle for COC only (mean reduction 5.3 days; P = .04) and not for TA (P = .18). Ten patients (58%) experienced adverse events that were possibly drug related (TA: n = 3, 30%; COCP: n = 7, 64%). CONCLUSION In this pilot study, oral TA appeared as efficacious as COC in the management of adolescent HMB by reducing MBL and improving quality of life.