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Objective: To describe the incidence and management of vaginal stricture after uterus transplantation (UTx) in the US, to propose a grading system to classify stricture severity, and to identify risk factors for stricture formation., Design: Prospective cohort study., Setting: University Hospital., Patients: Recipients undergoing UTx from 2016-2023 at Baylor University Medical Center in Dallas, Cleveland Clinic, the University of Pennsylvania, and the University of Alabama at Birmingham were monitored postoperatively with regular pelvic examinations. Stricture was defined as vaginal narrowing of <3 cm in patients with graft survival of at least 7 days., Intervention: Demographic and surgery characteristics., Main Outcome Measures: Stricture development and severity (grade 1 for diameter 2-<3 cm, grade 2 for 1-<2 cm, or grade 3 for <1 cm)., Results: Of the 45 UTx from 2016-2023 (16 deceased donors and 29 living donors), 3 were excluded from the analysis because of graft loss within 7 days. Of the 42 remaining recipients, 39 (92.9%) had Mayer-Rokitansky-Küster-Hauser syndrome and 3 (7.1%) had a prior hysterectomy. Twenty-eight (66.7%) UTx recipients developed postoperative vaginal strictures with a median time to stricture of 33 days (interquartile range 19-53 days). Most strictures were of moderate severity, with 4 (14.3%) strictures categorized as grade 1, 19 (67.9%) as grade 2, and 5 (17.9%) as grade 3. History of Mayer-Rokitansky-Küster-Hauser syndrome and preoperative recipient vaginal length were significant risk factors for stricture, after adjustment for donor and recipient age and body mass index, anastomosis technique, total ischemia time, center, and year. Patients with longer preoperative vaginal length had a lower risk of stricture (hazard ratio 0.45, 0.29-0.70). The severity grading of the stricture was associated with the effectiveness of a nonoperative treatment approach (grade 1 vs. grade 3). No patients with grade 3 strictures improved with self-dilation alone; all required surgical repair and/or dilation under anesthesia. Conversely, for grade 1 or 2 strictures, self-dilation alone was successful in 47.8% (11/23), and no grade 1 strictures required surgical repair., Conclusions: Vaginal stricture is a common postoperative complication after UTx, affecting >65% of recipients. Short preoperative vaginal length and history of müllerian agenesis in the recipient are significant risk factors. Vaginal self-dilation was effective for some mild to moderate strictures, although dilation under anesthesia or surgical repair was required in most cases., Clinical Trial Registration Numbers: Dallas UtErus Transplant Study (DUETS) at Baylor University Medical Center (NCT02656550), Uterine transplantation for the treatment of uterine factor infertility at the Cleveland Clinic (NCT02573415), The University of Pennsylvania Uterus Transplant for Uterine Factor Infertility Trial (UNTIL) (NCT03307356)., Competing Interests: Declaration of Interests L.Z. has nothing to disclose. L.A.H. has nothing to disclose.P.M.P. G.T. has nothing to disclose. S.A. has nothing to disclose. J.R.W. has nothing to disclose. M.R. has nothing to disclose. C.A.F. has nothing to disclose. K.O. has nothing to disclose. E.G.R. has nothing to disclose., (Copyright © 2024 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.) more...

Objective: To study whether markers of prenatal exposure to reproductive hormones are related to Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, polycystic ovary syndrome (PCOS), and endometriosis., Design: Case-control study. Comparison of sex hormone-related external genital and digital characteristics in cases and controls., Setting: University hospital., Patient(s): We enrolled 172 women in four groups-women with MKRH, women with PCOS, women with endometriosis, and controls (43 in each group)., Intervention(s): Measurement of two anthropometric biomarkers: anogenital distance and digit ratio., Main Outcome Measure(s): Anogenital distance was measured from the anus to the anterior clitoral surface (AGDac) and from the anus to the posterior fourchette (AGDaf). For the digit ratio we used a direct, as well as a computer-assisted graphic measurement to measure the length of the second and fourth digit., Result(s): After adjustment for body mass index and age, AGDac was the shortest in endometriosis and the longest in PCOS groups, with a mean difference of 10 mm (95% confidence interval 3.1-16.8). AGDaf but not AGDac measures were found to be significantly larger in the MRKH group, with a mean difference compared with controls of 2.6 mm (95% confidence interval 0.1-5.2). The digit ratio was not significantly different between the groups., Conclusion(s): In this study we did find limited evidence for androgen exposure during the development of MRKH. This is compatible with the hypothesis that the uterovaginal agenesis may have been the result of temporary prenatal exposure to altered gonadal hormone concentrations. For endometriosis and PCOS we confirm previously observed associations for anogenital distance reflecting possible estrogen-based and androgen-based intrauterine origins, respectively., Dutch Trial Registration Number: NTR7492., (Copyright © 2020 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.) more...

Objective: To assess the outcome of amnion vaginoplasty in cases of vaginal agenesis due to Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome managed at the authors' institution., Design: Retrospective study., Setting: Tertiary care hospital., Patient(s): Fifty women with MRKH who underwent neovaginoplasty., Intervention(s): Modified McIndoe's vaginoplasty was done in all the patients, using human amnion graft., Main Outcome Measure(s): Functional status assessed by Female Sexual Function Index, anatomic status (length and width of neovagina), and epithelialization of vagina., Result(s): Mean (±SD) vaginal length after surgery was 8.2 ± 1 cm. Mean vaginal length at 6-month follow-up in sexually active patients was significantly longer as compared with the patients who were not sexually active after surgery (8.4 ± 1.04 cm vs. 6.6 ± 2.4 cm). Mean Female Sexual Function Index score was 30.8 ± 2.1. Vaginal biopsy showed complete epithelialization of vaginal mucosa., Conclusion(s): In a developing nation like India, McIndoe's method with amnion graft seems to be a promising option owing to its low cost, easy availability, and safety, ease of the procedure not requiring any special instrument, physiologic outcome with respect to epithelialization of the vagina without hair growth, and satisfying functional outcome., (Copyright © 2017 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.) more...

Objective: To share our experience in performing the first-ever deceased-donor uterine transplant in the United States., Design: This video uses an animation and footage from a uterine transplantation procedure to review the steps and techniques involved in performing a uterine transplant., Setting: Academic, multisite medical center., Patient(s): A reproductive-age patient with Mayer-Rokitansky-Kuster-Hauser syndrome., Intervention(s): Transplantation of a viable uterus from a deceased donor., Main Outcome Measure(s): Assessment of posttransplantation uterine graft viability., Result(s): This video article describes the essential steps in the uterine transplant process, including selecting an appropriate donor with no history of infertility or uterine malformations. Furthermore, a deceased donor should exhibit brain death but not cardiac death. We also review our inclusion criteria for suitable recipients. In this video we outline the key steps in a uterine transplantation procedure and demonstrate footage from an actual transplant procedure. These steps include establishing bilateral end-to-side vascular anastomoses between the donor uterine artery and vein and the recipient's external iliac vessels. Once this has been completed and reperfusion noted of the donor uterus, connection to the recipient vaginal cuff is then performed., Conclusion(s): Uterine transplantation, although currently experimental, has gained the potential to become the first true treatment for uterine factor infertility. This procedure can become a promising option for the approximately 1.5 million women worldwide for whom pregnancy is not possible because of the absence of the uterus or presence of a nonfunctional uterus. Deceased donor uterine transplantation will further serve to broaden accessibility for this procedure., (Copyright © 2016 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.) more...

Objective: To provide a review of the literature regarding this technique as well as a step-by-step description with the goal of increasing its use as a safe surgical option. Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is characterized by vaginal agenesis and a variety of mullerian duct anomalies. To date, a variety of procedures have been described for creating a neovagina, but the best treatment remains debated. The Wharton-Sheares-George method, a minimally invasive surgical approach for the creation of a neovagina, is remarkably simple to perform., Design: Surgical video tutorial., Setting: University hospital and referral center for pediatric and adolescent gynecology., Patient(s): A 20-year-old woman with MRKH syndrome who underwent Wharton-Sheares-George neovaginoplasty., Intervention(s): With the Wharton-Sheares-George neovaginoplasty the rudimentary müllerian ducts are dilated incrementally by pushing Hegar dilators in the direction of the pelvic axis, and the resulting median raphe is then intersected using diathermy. Subsequently a vaginal mold is inserted into the newly created cavity and held in position by two sutures., Main Outcome Measure(s): Discussion of the surgical steps according to the Wharton-Sheares-George method and review of the anatomic and functional results., Results: Reviewing the existing literature shows that a mean vaginal length and width of 8.3 and 3.3 cm, respectively, can be achieved, and so far no major intraoperative or postoperative complications or prolapse of the neovagina has been reported. Patients can achieve a high degree of general well-being as well as sexual and psychosocial functioning. However, as with most other methods, the presented method requires diligent patient compliance due to the lifelong need to actively avoid contraction of the neovagina. Also, as revealed by vaginal cultures and biopsies, the neovaginas remarkably resemble natural vaginas with regard to type of bacterial colonization and structure of epithelium. The process of spontaneous epithelialization of the neovagina is not fully understood, but has been observed to begin at the vaginal orifice and take several months to reach the apex. This leads to the assumption that the nonkeratinizing, stratified squamous epithelium originates from the preexisting vaginal epithelium of the vaginal dimple and migrates in a cranial direction. Alternatively, epithelialization might arise from pluripotent stem cells located in the obliterated müllerian ducts., Conclusion(s): The creation of a neovagina using the Wharton-Sheares-George method does not require allogenic or autologous transplants, nor does it require traction devices or specialized surgical equipment. Furthermore, the procedure is comparatively simple to perform and easy to learn. By following our step-by-step description of this technique, surgeons can offer a minimally invasive, quick, and safe surgical option that provides long-term results that are both functionally and anatomically satisfying. We believe that this technique represents a valuable alternative for the creation of a neovagina in patients with MRKH syndrome and thus should be investigated on a broader scale in the future., (Copyright © 2016 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.) more...

Objective: To analyze the phenotypic and clinical aspects of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome., Design: Cross-sectional study., Setting: University hospital., Patient(s): Five hundred and ninety-four patients with MRKH syndrome., Intervention(s): Clinical examination, abdominal or perineal/rectal ultrasound, magnetic resonance imaging, hormonal profile, karyotype, and laparoscopy., Main Outcome Measure(s): Clinicopathologic data, VCUAM (vagina cervix uterus adnex-associated malformation) classification, types with cycle phase, and karyotype., Result(s): We identified associated malformations in 43 out of 594 (7.2%) cases of MRKH. The 594 patients could be grouped into hormone phases: 53.7% follicular, 35.2% luteal, and 11.1% ovulatory. The major karyotype of MRKH patients was 46,XX; abnormal karyotypes were found in two cases., Conclusion(s): A lower proportion of associated malformations were found when compared with those provided in the current literature. Renal anomalies were the most frequent associated malformations, and most of the patients presented with a normal karyotype. Given the large cohort of this study, the lower malformation rates might be related to geographic or referral patterns, so further investigation is warranted., (Copyright © 2016 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.) more...

Objective: To determine whether a uterus from the mother of a woman with absolute uterine factor infertility can be transplanted to daughter and carry a pregnancy with delivery of a healthy child., Design: Part of an observational study., Setting: University teaching hospital., Patient(s): Twenty eight-year-old woman with uterine agenesis, her male partner, and her 50-year-old mother., Intervention(s): In vitro fertilization with embryo cryopreservation before live donor uterus transplantation (UTx). Induction immunosuppression. Embryo transfer 12 months after UTx, pregnancy controls, delivery, and hysterectomy., Main Outcome Measure(s): Results of IVF-ET, parameters of pregnancy/birth, and surgical data of transplantation/cesarean section/hysterectomy., Result(s): Two IVF cycles before UTx resulted in 10 cryopreserved embryos. Donor surgery included hysterectomy with vascular pedicles of uterine vessels and proximal vessels up to and including parts of internal iliacs. Recipient surgery was by bilateral vascular connections to external iliacs, vaginal-vaginal anastomosis, and uterine fixation. Pregnancy occurred at the first single ET, and the pregnancy proceeded uneventfully until gestational week 34, when the patient developed cholestasis with intense pruritus. Cesarean section was performed at 34+6, with delivery of a healthy boy (weight 2,335 g). Hysterectomy was performed 3.5 months after delivery. The weight of the healthy child at 12 months was 9.3 kg. Grandmother (uterus donor) and mother are in good health 3 years after UTx., Conclusion(s): This is the first report of a live birth after mother-to-daughter UTx, and it also represents the second birth ever after human UTx., Clinical Trial Registration: NCT01844362., (Copyright © 2016. Published by Elsevier Inc.) more...

Objective: To perform a clinical, biochemical, and molecular evaluation of patients with CYP17A1 defects, including ovarian imaging., Design: Retrospective study., Setting: Tertiary care center., Patient(s): Sixteen patients with congenital adrenal hyperplasia due to CYP17A1 defects with a median chronological age of 20 years and belonging to 10 unrelated families., Intervention(s): None., Main Outcome Measure(s): Clinical and biochemical parameters, molecular diagnosis, ovarian imaging, and therapeutic management., Result(s): Seventy-one percent of patients presented with primary amenorrhea, 50% had no breast development, and pubic hair was absent or sparse in all patients; 88% had high blood pressure at diagnosis. Basal LH and P levels were high, and androgen levels were low in all patients. Ultrasound revealed ovarian enlargement in 68.7% and ovarian macrocysts in 62.5% of patients before treatment; three patients had a previous surgical correction of ovarian torsion or rupture. Molecular analysis revealed inactivating CYP17A1 mutations in all patients. The most prevalent mutation was p.W406R, and one patient bore a novel p.G478S/p.I223Nfs*10 compound heterozygous mutation. Treatment with dexamethasone, estrogen, and P resulted in reduction of ovarian volume., Conclusion(s): Amenorrhea, absent/sparse pubic hair, hypertension, and ovarian macrocysts, whichincrease the risk of ovarian torsion, are important elements in the diagnosis of 46,XX patients with CYP17A1 defects. High basal P levels in patients with hypergonadotropic hypogonadism point to the diagnosis of CYP17A1 defects. Fertility can be achieved in these patients with novel reproductive techniques., (Copyright © 2016 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.) more...

Objective: To investigate ovarian reserve in complete müllerian agenesis (CMA) patients and to compare the ovarian reserve of CMA patients with that of age-matched fertile and infertile controls., Design: Prospective cohort study., Setting: University gynecology outpatient clinic., Patient(s): Fifty-eight typical CMA (type A) patients, 8 atypical CMA (type B) patients, 39 fertile patients, and 38 infertile patients were compared for ovarian reserve., Intervention(s): Ovarian reserve was evaluated via antimüllerian hormone (AMH) levels and antral follicle counts (AFCs)., Main Outcome Measure(s): Investigation of ovarian reserve in CMA patients and a comparison of the ovarian reserve of the CMA patients with that of age-matched fertile and infertile controls., Result(s): Fifty-eight type A and eight type B CMA patients and 39 fertile and 38 infertile control patients were assessed for ovarian reserve. The mean (±SD) ages of the type A and type B CMA patients and the fertile and infertile groups were 25.8 ± 5.3, 33.3 ± 5.9, 32.6 ± 4.8, and 33.9 ± 3.3 years, respectively. After age standardization of the groups, AMH levels and AFCs were found to be lower in the atypical CMA group. The differences in AMH levels and AFC were found to be highly significant., Conclusion(s): The present study showed that atypical CMA patients had decreased ovarian reserve compared with age-matched fertile and infertile controls., (Copyright © 2015 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.) more...

Objective: To assess anatomical and functional outcomes of a novel laparoscopic vaginoplasty technique using a single peritoneal flap (SPF) in patients with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome., Design: Prospective follow-up study., Setting: University-based tertiary-care hospital., Patient(s): Patients with MRKH syndrome (n = 83) and randomly selected frequency-matched age-comparable healthy women serving as controls (n = 85)., Intervention(s): From March 2004 to March 2014, a total of 83 patients with MRKH syndrome underwent laparoscopic vaginoplasty using an SPF., Main Outcome Measure(s): Intraoperative parameters, postoperative parameters, and anatomical outcomes were recorded. The functional results of patients who became sexually active were assessed using the Female Sexual Function Index (FSFI) questionnaire and were compared with those of the controls., Result(s): Laparoscopic vaginoplasty using an SPF was successfully performed in all 83 patients, with no intraoperative complications. The mean operative time and intraoperative blood loss were, respectively, 71.2 ± 18.9 minutes and 88.5 ± 57.2 ml. The mean length and width of the neovagina at the 6-month follow-up examination were, respectively, 8.2 ± 0.8 cm and 3.0 ± 0.6 cm. Anatomical success was achieved in all patients. At 12 months after surgery, functional success, as assessed by the FSFI questionnaire, was achieved in 95.3% of patients. The FSFI scores did not differ significantly between patients with MRKH and healthy women in a control group., Conclusion(s): Laparoscopic vaginoplasty using an SPF may be a feasible and effective approach that has satisfactory anatomical and functional outcomes for patients with MRKH syndrome., (Copyright © 2015 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.) more...

Objective: To identify genetic causes of malformations of the müllerian ducts., Design: Retrospective laboratory study., Setting: University hospital., Patient(s): A total of 167 patients with disorders of the müllerian ducts: 116 patients with Mayer-Rokitansky-Küster-Hauser syndrome and 51 patients with fusion disorders of the müllerian ducts. The control group was composed of 94 fertile women with at least one child., Intervention(s): Sequential analysis of RBM8A and TBX6 in a group of 167 clinically well-defined patients with disorders of the müllerian ducts., Main Outcome Measure(s): Identification of rare variants in RBM8A and TBX6., Result(s): In total, we detected four RBM8A variants in 13 patients with disorders of the müllerian ducts and two heterozygous TBX6 variants in 5 of 167 patients., Conclusion(s): Mutations of RBM8A and TBX6 are associated with disorders of the müllerian ducts., (Copyright © 2015 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.) more...

Objective: To find a potential underlying cause for Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) discordance in monozygotic twins., Design: Prospective comparative study., Setting: University hospital., Patient(s): Our study genetically analyzed 5 MRKHS-discordant monozygotic twin pairs with the unique opportunity to include saliva and rudimentary uterine tissue., Intervention(s): Blood, saliva, or rudimentary uterine tissue from five MRKHS-discordant twins was analyzed and compared between twin pairs as well as within the same individual where applicable. We used copy number variations (CNVs) to identify differences., Main Outcome Measure(s): CNVs in blood, rudimentary uterine tissue, and saliva, network analysis, and review of the literature., Result(s): One duplication found in the affected twin included two genes, matrix metalloproteinase 14 (MMP14) and low-density lipoprotein receptor-related protein 10 (LRP10), which have known functions in the embryonic development of the uterus and endometrium. The duplicated region was detected in rudimentary uterine tissue from the same individual but not in saliva, making a tissue-specific mosaicism a possible explanation for twin discordance. Additional network analysis revealed important connections to differentially expressed genes from previous studies. These genes encode several molecules involved in extracellular matrix (ECM) remodeling and neoangiogenesis., Conclusion(s): MMP-14, LRP-10, ECM, and neoangiogenesis genes are identified as candidate genes in a tissue-specific mosaicism. The detected clusters provide evidence of deficient vascularization during uterine development and/or disturbed reorganization of ECM components, potentially during müllerian duct elongation signaled by the embryologically relevant phosphatidylinositol 3-kinase/protein kinase B pathway. Therefore, we consider these genes to be new candidates in the manifestation of MRKHS., (Copyright © 2015 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.) more...

Objective: To describe long-term outcomes after nonsurgical and surgical treatment of vaginal agenesis in a cohort of girls and women with Mayer-Rokitansky-Küster (MRK) syndrome., Design: Retrospective cohort study using a standardized case record form., Setting: University hospital., Patient(s): All girls and women with vaginal agenesis due to MRK syndrome, presenting during a 40-year period (1962-2012)., Intervention(s): Frank dilation and surgical treatment (with the use of a peritoneal graft, i.e., the Davydov method) for vaginal agenesis., Main Outcome Measure(s): Functional vaginal depth and complications., Result(s): Two hundred fifty-four women with MRK visited the department. Urinary tract anomalies were found in 72 patients (31%), and other congenital anomalies in 59 (32%) of the patients with available data. One hundred sixty women were treated for vaginal agenesis. The mean follow-up time was 90 months (range 0-560 months). Sixty-eight patients had surgical treatment for vaginal agenesis with the use of a peritoneal graft (Davydov method) and reached a functional depth of the vagina of 7.8 cm (range 1-13 cm) Surgical therapy preceded by nonsurgical Frank dilation and/or attempted sexual intercourse did not result in more functional depth of the neovagina. The formation of granulation tissue (23%) and the tendency to obliterate (12%) were the major problems when using a peritoneal graft., Conclusion(s): Long-term results of both Frank dilation and Davydov neovagina procedure in experienced hands were good. The use of a peritoneal graft may be regarded as a good alternative to other widely used neovagina techniques using a graft, such as split-thickness skin graft or sigmoid neovagina., (Copyright © 2015 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.) more...

Objective: To report a case of acute abdomen secondary to torsion of uterine remnant leiomyoma and ipsilateral adnexa in a woman with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome and known history of bilateral uterine remnant leiomyomas., Design: Case report., Setting: Tertiary care center., Patient(s): A 40-year-old nulligravid woman with MRKH syndrome and a known history of bilateral uterine remnant leiomyomas with a surgical abdomen., Surgery: right salpingo-oopherectomy, excision of right and left hemiuteri with pedunculated leiomyomas, and left salpingectomy., Main Outcome Measure(s): Definitive therapy with preservation of premenopausal state., Result(s): First known case of acute surgical presentation secondary to torsion of uterine remnant leiomyoma and ipsilateral adnexa in a woman with MRKH syndrome and bilateral voluminous uterine remnant leiomyomas without any plan for elective surgical intervention., Conclusion(s): Elective surgical removal of uterine remnant leiomyoma for women with MRKH syndrome can prevent the complication of torsion as well as prevent ovarian resection in premenopausal women. Torsion should be considered in the differential diagnosis in a woman with MRKH syndrome and known history of leiomyomas who presents with acute abdomen., (Published by Elsevier Inc.) more...

Studies on the phenotypes of women and men with mutations disrupting estrogen biosynthesis and action have significantly advanced our knowledge of the physiologic roles of estrogen in humans. Aromatase deficiency results from autosomal recessive inheritance of mutations in the CYP19A1 gene. It gives rise to ambiguous genitalia in 46,XX fetuses. At puberty, affected girls have hypergonadotropic hypogonadism, do not develop secondary sexual characteristics, and exhibit progressive virilization. The affected 46,XY men have normal male sexual differentiation and pubertal maturation. These men, however, are extremely tall and have eunucoid proportions with continued linear growth into adulthood, severely delayed epiphyseal closure, and osteoporosis due to estrogen deficiency. Although estrogen has been shown to be essential for normal sperm production and function in mice, its role in fertility is not clear in men. Thus far, one man and an unrelated woman with estrogen resistance due to mutations in the estrogen receptor α (ESR1) gene have been described. Their clinical presentations are similar to that of aromatase-deficient men and women., (Copyright © 2014 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.) more...

Objective: To examine the rate of maternal contamination in miscarriage specimens., Design: Retrospective review of 1,222 miscarriage specimens submitted for chromosome testing with detection of maternal cell contamination (MCC)., Setting: Referral centers requesting genetic testing of miscarriage specimens at a single reference laboratory., Patient(s): Women with pregnancy loss who desire complete chromosome analysis of the pregnancy tissue., Intervention(s): Analysis of miscarriage specimens using single-nucleotide polymorphism (SNP) microarray technology with bioinformatics program to detect maternal cell contamination., Main Outcome Measure(s): Chromosome content of miscarriages and incidence of 46,XX results due to MCC., Result(s): Of the 1,222 samples analyzed, 592 had numeric chromosomal abnormalities, and 630 were normal 46,XX or 46,XY (456 and 187, respectively). In 269 of the 46,XX specimens, MCC with no embryonic component was found. With the exclusion of maternal 46,XX results, the chromosomal abnormality rate increased from 48% to 62%, and the ratio for XX to XY results dropped from 2.6 to 1.0., Conclusion(s): Over half of the normal 46,XX results in miscarriage specimens were due to MCC. The use of SNPs in MCC testing allows for precise identification of chromosomal abnormalities in miscarriage as well as MCC, improving the accuracy of products of conception testing., (Copyright © 2014 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.) more...

Objective: To demonstrate the technique for uterus retrieval and transplantation from a multiorgan donor., Design: Video presentation of our case report. The video uses animation to demonstrate the technique. Institutional Review Board (IRB) approval was obtained., Setting: University hospital., Patient(s): A 21-year-old woman with complete müllerian agenesis., Intervention(s): Uterus allotransplantation has been performed from a deceased donor., Main Outcome Measure(s): Acquirement of cyclic menstrual function., Result(s): This video demonstrates the technique for uterus retrieval, perfusion, and transplantation. The recipient patient has been monitored regularly for vascular flow, immunosuppression, and infection control since the operation., Conclusion(s): Uterus transplantation requires extensive evaluation of the recipient and donor by an experienced multidisciplinary transplantation team both pre- and postoperatively. It has major risks related to surgery, immunosuppression, and pregnancy. Uterus transplantation might be considered promising only after the birth of a near-term healthy baby., (Copyright © 2013 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.) more...

Objective: To report a patient with Mayer-Rokitansky-Kuster-Hauser syndrome with functional endometrium treated with preoperative continuous combined low-dose monophasic oral contraceptives., Design: Case report., Setting: University hospital., Patient(s): A 12-year-old nulligravid adolescent girl., Intervention(s): Preoperative continuous combined low-dose monophasic oral contraceptives for 7 months, and laparoscopic resection of the rudimentary uterus and uterine horns with unilateral salpingo-oophorectomy., Main Outcome Measure(s): Relief of pain after hormonal treatment and the operative procedure., Result(s): Successful preoperative treatment of endometriosis and pain before definitive diagnosis and removal of müllerian remnants in a patient with Mayer-Rokitansky-Kuster-Hauser syndrome., Conclusion(s): Patients with obstructive müllerian malformations with functional endometrium can be preoperatively managed with continuous combined low-dose monophasic oral contraceptives to control pain and treat endometriosis. This may permit a delay in surgical intervention to facilitate other investigations and to allow thorough counselling of the patient and her family about the implications of the diagnosis., (Copyright © 2011 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.) more...

Objective: To compare different diagnostic procedures for staging malformations associated with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome., Design: Retrospective two-center cohort study (Canadian Task Force classification II-2)., Setting: University hospital., Patient(s): One hundred and thirty-eight women with MRKH., Intervention(s): Clinical examinations, abdominal or perineal/rectal ultrasound, magnetic resonance imaging (MRI), and laparoscopy., Main Outcome Measure(s): Agreement between the results obtained with the other methods and the results obtained with the reference methods for correct staging of malformations, presented as kappa values (κ)., Result(s): The VCUAM (vagina cervix uterus adnex-associated malformation) classification system was used to classify genital malformations in 138 women with MRKH. The reference methods for examining the individual organs were: vagina-clinical examination; cervix/uterus and adnexa-laparoscopy; and urinary tract malformations-MRI. The values obtained were as follows. Vagina was κ 0.74 for MRI versus clinical examination; ultrasound and laparoscopy did not allow adequate description of vaginal malformations. Cervical findings were rarely detailed with any of the imaging methods. Uterus was κ 0.93 for MRI versus laparoscopy, and κ 0.83 for ultrasound. For adnexa, only laparoscopy was able to describe the morphology adequately. The urinary tract was κ 0.87 for ultrasound versus MRI., Conclusion(s): For the correct staging of malformations associated with MRKH, MRI or a combination of clinical examination and ultrasound are equivalent. However, none of the imaging methods adequately describes adnexal morphology., (Copyright © 2011 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.) more...

Severe hypomethylation of the H19 imprinted control region (ICR1) in two patients with Silver-Russell syndrome (SRS) who have genital malformations has encouraged us to study DNA methylation in a cohort of 83 patients with Müllerian aplasia (MA). Site-specific methylation analyses of H19 ICR1 by quantitative real-time polymerase chain reaction in 80 clinically well-diagnosed Finnish MA patients showed no association between hypomethylation and the MA phenotype, but studies of the H19 locus in 38 patients showed aberrant methylation in 3/16 studied sites., (Copyright © 2011 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.) more...