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Complete androgen insensitivity syndrome (CAIS) presents significant challenges in the accurate diagnosis and personalized management of individuals with a 46, XY karyotype who exhibit a female phenotype due to complete insensitivity to androgens. This retrospective case report analyzes the clinical data, genetic testing, hormonal profiling, and imaging studies of a patient who was initially misdiagnosed during hernioplasty and later misidentified as having Mayer-Rokitansky-Küster-Hauser syndrome. The report details the establishment of the correct diagnosis and implementation of a personalized management strategy that postponed gonadectomy until post-puberty. This approach included continuous monitoring and tailored estrogen replacement therapy, which facilitated informed patient decisions and comprehensive feminization while preventing the long-term consequences of estrogen deficiency. Supported by a literature review, this case report emphasizes the necessity of a multidisciplinary approach to managing CAIS, highlighting the importance of heightened awareness, accurate diagnostics, and personalized therapeutic plans to ensure holistic, patient-centered care., Competing Interests: Declaration of conflicting interestThe Authors declare that there are no conflicts of interest.

Study Objective: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by the congenital absence of the uterus and vagina, sometimes with associated extragenital anomalies. Currently, there is limited literature on pelvic pain and comorbid pain syndromes in people with MRKH. The aims of this scoping review were to summarize existing literature on pelvic and generalized persistent pain syndromes associated with MRKH and to identify knowledge gaps for further research into this field., Methods: This scoping review followed the Joanna Briggs Institute framework. The population of interest was patients with a diagnosis of MRKH. MEDLINE, CINAHL, Scopus, Cochrane, Embase, and Emcare databases were searched. Articles that did not meet the inclusion criteria or critical appraisal standards were excluded. The resultant articles were reviewed by 2 independent researchers, and a third was used in cases of disagreement. A descriptive analytical method was used for data analysis., Results: We screened 3348 articles for eligibility. Of these, 39 articles, which described 1353 cases of MRKH, met the criteria. Four studies described baseline pelvic pain in MRKH, 19 described acute presentations, and 13 described postintervention pain levels., Conclusion: Despite the paucity of research, this review found that cyclic pelvic pain was mostly present in women with uterine remnants, whereas pelvic pain in those without remnants was poorly understood. There were no studies exploring generalized persistent pain syndromes in MRKH. Further cross-sectional studies are needed to elucidate the prevalence and levels of pain syndromes in MRKH., Competing Interests: Conflicts of interest RUG, CP, and IW have no potential conflicts to disclose. SRG is a consultant obstetrician and gynecologist and pain medicine specialist at The Royal Children's Hospital, Melbourne. ND is a consultant obstetrician and gynecologist at Cairns Hospital., (Crown Copyright © 2024. Published by Elsevier Inc. All rights reserved.)

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.)

Study Objective: The diagnosis of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is often a lengthy process that typically occurs during late adolescence. To support optimized and patient-centered care, this study aimed to investigate how women with MRKH syndrome experience the diagnostic process., Methods: From January 2021 to March 2021, we conducted in-depth interviews with 18 Danish women (≥25 years) diagnosed with MRKH syndrome. The interviews lasted a median of 92 minutes (range: 67-117). Data were analyzed using thematic analysis., Results: As teenagers or young women at the time, all women had experienced the diagnostic process in the nonspecialized healthcare sector as deeply upsetting due to distressing gynecological examinations, use of inappropriate language, and considerable diagnostic delay. When reaching the specialized health care sector, questions could finally be answered, but this information and support did not significantly alter their feelings of being "deviant" or "flawed". The women continued their diagnostic odyssey beyond the health care system and found online communities that gave them valuable support in living with MRKH syndrome., Conclusion: Women experience the diagnostic odyssey of MRKH syndrome as upsetting and potentially traumatizing beyond the diagnosis. Healthcare professionals can influence young women's understanding and experience of MRKH syndrome by using inclusive language (eg, avoiding "deformity") and addressing all that is normal and functioning (eg, external genitalia and potential for sexual pleasure). In nonurgent conditions, young women should be given the choice to delay a genital examination., Competing Interests: Conflict of Interest All authors declare no potential conflicts to disclose, (Copyright © 2024. Published by Elsevier Inc.)

Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a rare congenital disorder that affects the female reproductive system and is characterized by an underdeveloped or absent uterus and vagina. A 17-year-old unmarried female was admitted into the Department of Endocrinology, Mymensingh Medical College Hospital, Bangladesh in November 2023 for evaluation of primary amenorrhea and poorly controlled diabetes mellitus. She was the 5th issue of non-consanguineous marriage delivered at term by normal vaginal delivery. Her growth pattern and developmental milestones were normal. She had no history of galactorrhea, chronic or cyclic pelvic pain, thyroid dysfunction, excessive exercise, psychiatric illness, or drug abuse. There was no history of such type of illness in her family. She was diagnosed with diabetes mellitus two years back without classic symptoms, and at that time, her blood glucose was 22 mmol/L. She was prescribed metformin and gliclazide. She had no history of hypoglycemia, hyperglycemic crises, or hospital admission. On examination, her body build and nutritional status were normal. Anemia, jaundice, edema, dehydration, lymphadenopathy, acne, hirsutism, acanthosis nigricans, abdominal striae and vitiligo were absent. Her blood pressure was 110/70 without the postural drop, thyroid gland was not enlarged, anthropometric measurements were normal and BMI was 18.4 kg/m2. Her tanner stage was P5 & B4. Genital examination revealed normal female external genitalia, and a blind vaginal pouch was found. Other systemic examinations revealed no abnormality. On laboratory reports, her blood glucose was uncontrolled (HbA1c-10.2%) with glycosuria. Thyroid function test and gonadal hormones were normal. Ultrasonogram of the abdomen revealed uterus, cervix, and upper part of the vagina are absent, and an ectopic left kidney.

Prenatal-onset androgen excess leads to abnormal sexual development in 46,XX individuals. This androgen excess can be caused endogenously by the adrenals or gonads or by exposure to exogenous androgens. The most common cause of 46,XX disorders/differences in sex development (DSD) is congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, comprising >90% of 46,XX DSD cases. Deficiencies of 11β-hydroxylase, 3β-hydroxysteroid dehydrogenase, and P450-oxidoreductase (POR) are rare types of CAH, resulting in 46,XX DSD. In all CAH forms, patients have normal ovarian development. The molecular genetic causes of 46,XX DSD, besides CAH, are uncommon. These etiologies include primary glucocorticoid resistance (PGCR) and aromatase deficiency with normal ovarian development. Additionally, 46,XX gonads can differentiate into testes, causing 46,XX testicular (T) DSD or a coexistence of ovarian and testicular tissue, defined as 46,XX ovotesticular (OT)-DSD. PGCR is caused by inactivating variants in NR3C1 , resulting in glucocorticoid insensitivity and the signs of mineralocorticoid and androgen excess. Pathogenic variants in the CYP19A1 gene lead to aromatase deficiency, causing androgen excess. Many genes are involved in the mechanisms of gonadal development, and genes associated with 46,XX T/OT-DSD include translocations of the SRY ; copy number variants in NR2F2 , NR0B1 , SOX3 , SOX9 , SOX10 , and FGF9 , and sequence variants in NR5A1 , NR2F2 , RSPO1 , SOX9 , WNT2B , WNT4 , and WT1 . Progress in cytogenetic and molecular genetic techniques has significantly improved our understanding of the etiology of non-CAH 46,XX DSD. Nonetheless, uncertainties about gonadal function and gender outcomes may make the management of these conditions challenging. This review explores the intricate landscape of diagnosing and managing these conditions, shedding light on the unique aspects that distinguish them from other types of DSD., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationship that could be construed as a potential conflict of interest., (Copyright © 2024 Yavas Abalı and Guran.)

Abstract: Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) also known as Müllerian agenesis, is caused by embryologic underdevelopment of the Mullerian duct, with resultant agenesis or atresia of the vagina, uterus, or both. Patients usually present with primary amenorrhea with normal growth and pubertal development. Here we present a case of a 29-year-old woman presented with primary amenorrhea. Secondary sexual characteristics and hormone evaluation were normal. Ultrasound and MRI were conducted and revealed complete absence of uterus, small vaginal canal. Bilateral renal fossa were empty and both the kidneys were located in the pelvic cavity fused to one-another with single renal pelvis giving pancake appearance.

Introduction: Menstruation is a developmental milestone and usually marks healthy and normal pubertal changes in females. Menarche refers to the onset of first menstruation in a female. The causes of primary amenorrhea include outflow tract abnormalities, resistant endometrium, primary ovarian insufficiency, and disorders of the hypothalamus, pituitary, or other endocrine glands. A rare variant of mullerian agenesis, which warrants an individualized approach to management, is presented here., Case Report: We present here the case of a 25-year-old Indian female with pain in the lower abdomen and primary amenorrhea. After a thorough history, clinical examination, imaging, and diagnostic laparoscopy, two small uteri, a blind upper half vagina, bilateral polycystic ovaries, and a blind transverse connection between the two uteri-a horseshoe band cervix-were detected, which confirmed the diagnosis of mullerian agenesis. There was evidence of adenomyosis in the mullerian duct element. This is a rare form of Müllerian abnormality with an unusual presentation., Conclusion: Mullerian agenesis is the most common cause of primary amenorrhea with well-developed secondary sexual characteristics. There are various forms of mullerian agenesis. Most of the cases are managed by a multidisciplinary team. Rare variants warrant an individualized approach to management., (© 2024. The Author(s).)

Background: Rubinstein-Taybi syndrome (RSTS) is a multi-system neurodevelopmental condition caused by deficiency of CREBBP (16p13.3) or EP300 (22q13.2). Müllerian agenesis, or Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, is defined as congenital agenesis of the uterus, cervix, and upper vagina without a definite genetic cause., Index Case and Case Series: We present a 14-year-old female with RSTS type 1 (CREBBP, c.4395-2A>C) and MRKH, the first documented in the literature. Following presentation to Gynecology for anticipatory guidance regarding future menstrual suppression and follow-up of previously diagnosed labial adhesions, exam under anesthesia revealed a single urogenital opening with cystoscopy demonstrating a normal urethra and bladder. Laboratory evaluation was consistent with peripubertal female gonadotropins and estradiol, 46,XX karyotype, and normal microarray, and a pelvic MRI confirmed Müllerian agenesis. Given this case, we assessed our cohort of females with RSTS and found that 4 of 12 individuals also had Müllerian anomalies., Conclusion: Gynecologic evaluation should be a part of medical care for females with RSTS, particularly in individuals with delayed menarche or abnormal menstrual history, on the basis of the observed association between RSTS and Müllerian anomalies in this case series. Although several candidate genes and copy number variants are associated with MRKH, no candidate genes in close proximity to the 16p13.3 region have been identified to explain both RSTS and MRKH in the index patient. Due to the regulatory nature of CREBBP during embryonic development, we theorize that CREBBP may play a role in the migration of Müllerian structures during embryogenesis., Competing Interests: Conflicts of Interest All authors confirm no proprietary or commercial interest in any product mentioned or concept discussed in this article and have no potential conflicts to disclose., (Copyright © 2023. Published by Elsevier Inc.)

Background: In the past, the primary treatment for MRKH syndrome (Mayer-Rokitansky-Küster-Hauser syndrome) with a functional primordial uterus was surgical removal of the functional primordial uterus. In rare instances, the endometrium of the functional primordial uterus is well developed, and surgical preservation of the functional primordial uterus provides the possibility of preserving reproductive function for these patients., Case Presentation: A 14-year-old female was diagnosed with type I MRKH syndrome with a functional primordial uterus through physical examination and imaging investigations. We freed the functional primordial uterus through laparoscopic surgery and excised a portion of the lower myometrium to create an outlet at a lower uterine segment, which we then intermittently anastomosed to the tip of the artificial vagina. The patient recovered well after the surgery, and a re-examination showed no significant abnormalities., Conclusion: We were successful in preserving the functional primordial uterus using laparoscopic surgery in a patient with MRKH syndrome and connecting it to an artificial vagina through reconstructive surgery to ensure unobstructed menstrual drainage and preserve the reproductive potential of the patient., (© 2023. The Author(s).)

Study Objective: To understand variations and experiences of vaginal lengthening internationally in individuals with congenital underdevelopment of the uterus, cervix, and upper vagina or Müllerian agenesis METHODS: In this study, we used a cross-sectional mixed-methods design incorporating quantitative and qualitative questionnaires. Adults with Müllerian agenesis completed questionnaires with quantitative and open-ended qualitative questions about their vaginal lengthening experiences. Data were analyzed using descriptive statistics and inductive thematic analysis., Results: Of 616 respondents meeting inclusion criteria (representing 40 countries), 46% (n = 284) reported no vaginal lengthening intervention. Vaginal lengthening was commonly reported by participants from North America and Europe (59%) and less commonly by participants from Africa, Asia, and South America (16%). Of those who had undergone vaginal lengthening, 72% reported dilator use, 34% coital dilation, and 39% surgery. Four major themes were identified in response to the open-ended vaginal lengthening experience question: (1) difficult physical symptoms, (2) practical and psychosocial challenges, (3) intimate relationships and sexual satisfaction, and (4) impact of experiences with healthcare providers., Conclusion: This study highlights vaginal lengthening practices internationally and shared themes related to significant challenges and positive experiences. The findings show room for improvement in the counseling and care surrounding vaginal lengthening. Future research should investigate factors that influence decision-making about vaginal lengthening and work toward international consensus on best care practices in Müllerian agenesis., Competing Interests: Declaration of Competing Interest Author 3 is the CEO of the national MRKH foundation. Author 6 became chair of the Scientific Advisory Board of the national MRKH foundation after the completion of this study. The remaining authors report no conflicts of interest., (Copyright © 2023. Published by Elsevier Inc.)

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, a condition caused by Müllerian anomalies, is characterised by congenital vaginal aplasia and a rudimentary uterus. Case reports concerning uterine fibroids associated with MRKH syndrome are limited, and differentiating between uterine fibroids and ovarian solid tumours prior to surgical intervention is often challenging. Here, we present the case of a patient with MRKH syndrome and asymptomatic bilateral pelvic solid tumours located close to both ovaries. Based on intraoperative and histopathological findings, the tumours were diagnosed as adenomyomas of the rudimentary uterus. This is the first reported case of a uterine adenomyoma associated with MRKH syndrome. Moreover, our report highlights the fact that diagnostic laparoscopy is a valuable method to evaluate pelvic tumours in MRKH syndrome., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2023. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)

BACKGROUND Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a complex disorder of the female reproductive system that results in an absent uterus and vagina. MRKH syndrome can be an isolated anomaly (typical) or accompanied by other organ anomalies (atypical). Due to the similarity of symptoms with other congenital gynecological diseases, imaging modalities remain the most important tools in establishing the diagnosis by visualizing internal genital and detecting possible organ malformations. CASE REPORT We present a very rare case of a female with primary amenorrhea. Pelvic magnetic resonance imaging (MRI) showed the absence of a uterus and vagina with possible Mullerian remnants, as well as an incidental finding of a right ectopic kidney. Abdominal ultrasonography and chest X-ray showed that the patient also had situs inversus totalis. CONCLUSIONS MRKH syndrome may be associated with situs inversus totalis due to possible early embryologic malformations causing both conditions; however, the exact mechanism is still unknown. This report should serve as a more recent attempt to question whether situs inversus totalis is related to MRKH and to emphasize the importance of imaging modalities, especially MRI, in establishing the diagnosis of MRKH syndrome and the associated malformations.

Background: Contradictory findings on sexual health in women with Mayer-Rokitansky-Kuester-Hauser syndrome (MRKHS) after vaginal reconstruction point toward the need for more profound assessment of this subject, particularly as it is still unclear what constitutes sexual well-being, especially genital self-image or sexual self-esteem, in women with MRKHS and neovagina., Aim: The aim of this qualitative study was to assess individual sexual health and sexual well-being in the context of MRKHS after vaginal reconstruction, with an emphasis on genital self-image, sexual self-esteem, sexual satisfaction, and coping with MRKHS., Methods: Qualitative semistructured interviews were conducted with women with MRKHS after vaginal reconstruction (n = 10) with the Wharton-Sheares-George surgical method and a matched control group without MRKHS (n = 20). Women were surveyed about their previous and current sexual activities, perception of and attitudes toward their genitals, disclosure to others, coping with the diagnosis, and perception of surgery. Data were analyzed through qualitative content analysis and compared with the control group., Outcomes: The primary outcomes of the study were major categories, such as sexual satisfaction, sexual self-esteem, genital self-image, and dealing with MRKHS, as well as subcategories related to the content analysis., Results: Although half the women in the present study indicated that they were coping well with their condition and were satisfied with sexual intercourse, most felt insecure about their neovagina, were cognitively distracted during intercourse, and showed low levels of sexual self-esteem., Clinical Implications: A better understanding of expectations and uncertainties regarding the neovagina might help professionals to support women with MRKHS after vaginal reconstruction to increase sexual well-being., Strengths and Limitations: This is the first qualitative study focusing on individual aspects of sexual well-being, especially sexual self-esteem and genital self-image, in women with MRKHS and neovagina. The qualitative study indicates good interrater reliability and data saturation. The limitations of this study include the inherent lack of objectivity resulting from the method but also the fact that all the patients had a particular surgical technique, consequently resulting in limited generalizability of these findings., Conclusions: Our data indicate that integrating the neovagina into the genital self-image is a prolonged process that is essential for sexual well-being and should thus be the focus of sexual counseling., (© The Author(s) 2023. Published by Oxford University Press on behalf of The International Society of Sexual Medicine. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.)

This review presents an update of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome on its etiologic, clinical, diagnostic, psychological, therapeutic, and reproductive aspects. The etiology of MRKH syndrome remains unclear due to its intrinsic heterogeneity. Nongenetic and genetic causes that may interact during the embryonic development have been proposed with no definitive etiopathogenesis identified. The proportion of concomitant extragenital malformations varies in different studies, and the discrepancies may be explained by ethnic differences. In addition to physical examination and pelvic ultrasound, the performance of pelvic magnetic resonance imaging is crucial in detecting the presence of rudimentary uterine endometrium. MRKH syndrome has long-lasting psychological effects on patients, resulting in low esteem, poor coping strategies, depression, and anxiety symptoms. Providing psychological counseling and peer support to diagnosed patients is recommended. Proper and timely psychological intervention could significantly improve a patient's outcome. Various nonsurgical and surgical methods have been suggested for treatment of MRKH syndrome. Due to the high success rate and minimal risk of complications, vaginal dilation has been proven to be the first-line therapy. Vaginoplasty is the second-line option for patients experiencing dilation failure. Uterine transplantation and gestational surrogacy are options for women with MRKH syndrome to achieve biological motherhood., (© 2022. Higher Education Press.)

Purpose: Mayer-Rokitansky-Küster-Häuser syndrome (MRKH) usually presents with primary amenorrhea after puberty. The present study clarified the clinical features of MRKH diagnosed at under 16 years old., Methods: We conducted a questionnaire survey to determine the status of MRKH in Japan. Twenty-one MRKH patients were enrolled, and the patient background and clinical features were analyzed., Results: The median age at the diagnosis was 2.6 [1.0-9.0] years. Three patients (14.3%) were diagnosed with type I MRKH, while 18 (85.7%) were diagnosed with type II. The associated anomalies included (some cases overlapped): anorectal malformation (ARM) (n = 13, 72.2%), renal malformation (n = 12, 66.7%), vertebral malformation (n = 11, 61.1%), esophageal atresia (n = 5, 27.8%), and cardiac malformation (n = 4, 22.2%). The comparison of patients with and without ARM revealed that patients with ARM were significantly younger than those without ARM at the time of the diagnosis (1.5 [1-2.6] years vs. 9.1 [8.2-11.7] years, p < 0.05). Associated ARM was the most frequent reason for the diagnosis of MRKH (n = 10, 47.6%)., Conclusions: MRKH patients with some associated anomalies, especially ARM, were frequently diagnosed in preoperative imaging examinations or radical operation for ARM. Pediatric surgeons should pay close attention to female patients with ARM to prevent errors in the diagnosis of MRKH., (© 2022. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Introduction: the MRKH syndrome is a rare congenital malformation in women. As most rare conditions, this syndrome usually causes confusion in patients and even in physicians. The medical encounter of young girls with the syndrome is intertwined in a complex matrix of social, economic and cultural factors that only contribute in creating more confusion in the young girl., Methods: the study is qualitative and designed to describe the first encounter of women with the MRKH syndrome at the physician. To that effect, an interview guide was designed for in-depth interviews with 05 MRKH women from varied African countries (Cameroon, Côte-d'Ivoire, and Senegal) selected using the snowball technique., Results: findings from this study revealed that most women go to the hospital and return more confused as no clear information is given to them on their condition. Also, cultural, social and religious beliefs on the one hand seems to blur the physician's judgment to provide appropriate remedies like instrumental dilatation for rudimentary vagina, surrogacy for uterine infertility factor, adoption, etc. and on the other hand, these beliefs also act as a barrier for these young girls who are not strangers to the culture., Conclusion: the study suggests that, physicians give to the patients all necessary information for them to take elective decisions on their health. It also suggests that awareness should be raised on this condition., Competing Interests: The author declares no competing interests., (Copyright: Rose-Danielle Ngoumou et al.)

There is a paucity of research on psychosexual outcomes after neo-vaginoplasty in women with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. We compared anatomical and psychosexual outcomes between women with MRKH syndrome who had undergone vaginoplasty and age-matched, sexually active, childless women. Outcomes were assessed using the female sexual function index (FSFI), World Health Organization Disability Assessment Schedule (WHODAS 2.0), General Anxiety Disorder-7 (GAD-7) and Patient Health Questionnaire (PHQ-9) tools. Although mean vaginal length was shorter in women with MRKH syndrome than controls (8.6 ± 1.8 cm vs 9.3 ± 2.6 cm), FSFI scores were comparable in both groups (27.8 ± 1.4 vs. 27.3 ± 4.1). Women with MRKH syndrome reported fewer depressive symptoms, and WHODAS 2.0 scores were comparable in both groups (8.9 ± 2.4 vs. 7.8 ± 6.7). Therefore, psychosexual outcomes for women who had undergone neo-vaginoplasty for MRKH syndrome were not different from those of the general population., (Copyright © 2022 The Society of Obstetricians and Gynaecologists of Canada/La Société des obstétriciens et gynécologues du Canada. Published by Elsevier Inc. All rights reserved.)

Background: We report five patients with Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS), four of whom presented with precocious puberty and one with growth hormone deficiency (GHD. Our five children add to the growing endocrine data base of MRKHS., Case Presentation: We retrospectively reviewed clinical data of 5 MRKHS patients from 2017 to 2020. The clinical features, hormonal profiles, radiological imaging and genetic analyses were collated. The age range of the 5 patients at diagnosis was 6.7-9.1 years. Four presented with premature thelarche, and one presented with short stature. External genitalia were normal in all patients. Gonadotropin-releasing hormone stimulation tests for the 5 patients revealed peak luteinizing hormone and follicular stimulating hormone levels of 3.57, 6.24, 11.5, 4.44 and 4.97 IU/L and 9.41, 16.7, 13.8, 14.2 and 10.3 mIU/mL, respectively. Growth hormone stimulation for one patient with short stature was consistent with GHD with a peak level of GH was 7.30 ng/mL. Imaging disclosed advanced bone age in four patients and no skeletal abnormalities in any of the patients. Ultrasonography of the abdomen revealed bilateral polycystic kidneys in one patient. Pelvic magnetic resonance imaging confirmed no uterus in five patients. All of the patients had a normal karyotype (46, XX). In one patient, whole-exome sequencing detected a deletion of 17q12(chr17:36,046,434-36,105,050, hg19) encompassing the HNF1B gene., Conclusions: We report the unusual co-occurrence of precocious puberty and GHD in patients with MRKHS, highlighting that abnormal puberty and growth development may represent initial unexplained manifestations. Whether the deletion of 17q 22 begat GHD is unclear., (© 2022. The Author(s).)

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, also known as Müllerian agenesis, is characterized by uterovaginal aplasia in an otherwise phenotypically normal female with a normal 46,XX karyotype. Previous studies have associated sequence variants of PAX8, TBX6, GEN1, WNT4, WNT9B, BMP4, BMP7, HOXA10, EMX2, LHX1, GREB1L, LAMC1, and other genes with MRKH syndrome. The purpose of this study was to identify the novel genetic causes of MRKH syndrome. Ten patients with MRKH syndrome were recruited at Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing, China. Whole-exome sequencing was performed for each patient. Sanger sequencing confirmed the potential causative genetic variants in each patient. In silico analysis and American College of Medical Genetics and Genomics (ACMG) guidelines helped to classify the pathogenicity of each variant. The Robetta online protein structure prediction tool determined whether the variants affected protein structures. Eleven variants were identified in 90% (9/10) of the patients and were considered a molecular genetic diagnosis of MRKH syndrome. These 11 variants were related to nine genes: TBC1D1, KMT2D, HOXD3, DLG5, GLI3, HIRA, GATA3, LIFR, and CLIP1. Sequence variants of TBC1D1 were found in two unrelated patients. All variants were heterozygous. These changes included one frameshift variant, one stop-codon variant, and nine missense variants. All identified variants were absent or rare in gnomAD East Asian populations. Two of the 11 variants (18.2%) were classified as pathogenic according to the ACMG guidelines, and the remaining nine (81.8%) were classified as variants of uncertain significance. Robetta online protein structure prediction analysis suggested that missense variants in TBC1D1 (p.E357Q), HOXD3 (p.P192R), and GLI3 (p.L299V) proteins caused significant structural changes compared to those in wild-type proteins, which in turn may lead to changes in protein function. This study identified many novel genes, especially TBC1D1, related to the pathogenesis of MRKH syndrome. The identification of these variants provides new insights into the etiology of MRKH syndrome and a new molecular genetic reference for the development of the reproductive tract., (© 2022. The Author(s).)

Uterine transplantation is an emerging treatment for patients with uterine factor infertility (UFI). In order to determine patient candidacy for transplant, it is imperative to understand how to identify, counsel and treat uterine transplant recipients. In this article, we focus on patient populations with UFI, whether congenital or acquired, including Mayer-Rokitansky-Kuster-Hauser, complete androgen insensitivity syndrome, hysterectomy, and other causes of nonabsolute UFI. Complete preoperative screening of recipients should be required to assess the candidacy of each individual prior to undergoing this extensive treatment option., (Copyright © 2021 Wolters Kluwer Health, Inc. All rights reserved.)

A 37-year-old woman with a previous diagnosis of Mayer-Rokitansky-Kuster-Hauser syndrome at 18 years of age was referred from a primary healthcare physician to a gynaecology appointment in our centre. She presented with a 2-year worsening pelvic pain and dyspareunia, symptoms that were previously absent and, at the time, with inadequate relief with oral analgesia. Physical examination showed absent uterine cervix and hypoplastic superior vagina. Transvaginal ultrasound and MRI suggested the presence of an hypoplasic uterus in left rotation. Laparoscopically, two asymmetric rudimentary horns were found, united by a fibrous central band, with an enlarged and congestive left horn. The three structures were removed as a whole. Histopathological examination reported the presence of multiple adenomyotic foci along the full thickness of the left rudimentary horn. The patient had an uneventful postoperative recovery and full remission of her symptoms., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2022. No commercial re-use. See rights and permissions. Published by BMJ.)

Purpose of Review: Women with absolute uterine factor infertility, because of uterine absence, or the presence of a nonfunctional uterus, were regarded as being untreatable until 2014 when the first birth following uterus transplantation (UTx) took place in Sweden. This proof-of-concept occurred in a woman with Mayer-Rokitansky-Küster-Hauser syndrome (MRKHs) with congenital uterine absence, who received a uterus from a 61-year-old live donor (LD). Since then, several births after UTx have occurred in Sweden and subsequently in other countries, including both LD and deceased donor (DD) transplants. A great majority of the recipients were women with MRKHs. The efficiency and safety of UTx can be determined only when a complete study cohort of transplanted women have reached the definitive endpoint of graft hysterectomy. The different outcomes of transplanted women include graft failure, as well as graft survival with failure to achieve livebirth, or livebirth(s). Published data from a completed trial are not yet available. The results that we have to rely on are reports of completed surgeries and interim outcomes that may be as early as a few months after surgery and up to several years after UTx. The purpose of this review is to give an update on all published clinical UTx data and major results, including live births up to mid 2021., Recent Findings: The interim results of a number of UTx studies have been published. LD UTx procedures have been reported from four European countries (Sweden, the Czech Republic, Germany, Spain), four Asian nations (Saudi Arabia, India, China, Lebanon), as well as some from the USA. DD UTx procedures have been reported from Turkey, the Czech Republic, the USA and Brazil. To our knowledge, there also exist unpublished UTx cases from some of the countries mentioned above and from at least four other countries (Serbia, France, Mexico, Italy). We estimate that at least 80 UTx procedures have been performed, resulting in more than 40 births. The present study includes only data from published, peer-reviewed, research papers. The results of 62 UTx cases show an overall surgical success rate, as defined by a technically successful transplantation with a subsequent regular menstrual pattern, of 76%. The success rates for LD and DD UTx procedures were 78% and 64%, respectively. The rate of serious postsurgical complications requiring invasive or radiological intervention was 18% for LDs and 19% for recipients. The cumulative live birth rate in successful UTx procedures is estimated to be above 80%. Twenty-four births after UTx have been reported and the results show a high rate of preterm birth, with an associated high proportion of respiratory distress syndrome., Summary: UTx has proven to be a successful treatment for uterine factor infertility at several centers around the world. The modest success rate and the fairly high complication rate among LDs, indicate that further research and development under strict governance are needed before this option should be widely offered., (Copyright © 2021 Wolters Kluwer Health, Inc. All rights reserved.)

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare congenital disorder affecting female reproductive system (agenesis of uterus and upper part of vagina) alone (type 1), or associated with abnormalities of other organs and systems (type 2). We report a case of a 21-year-old woman diagnosed with MRKH due to primary amenorrhea during puberty and operated for formation of neovagina. She was admitted to the Department of Urology with abdominal pain and oligoanuria, where the physical examination and imaging studies revealed a malformation of the upper urinary tract: a solitary dystopia of kidney in the pelvis with stenosis of ureteropelvic junction and hydronephrosis. After initial desobstruction with a DJ stent, a pyeloplasty was performed. Females with primary amenorrhea are often delayed with the diagnosis of potential MRKH syndrome, and those diagnosed with the syndrome should undergo detailed examination to exclude concomitant urinary abnormalities., (This is an open access article distributed under the terms of the Creative Commons Attribution License (CC BY 4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.)

Objective: To retrospectively evaluate the follow-up data in patients with 46,XX congenital adrenal hyperplasia (CAH) who were raised male., Methods: A national database was created. The data of patients were asked to be recorded in the data form., Results: The median (range) age of diagnosis was three (0.1-18.3) years in 44 patients. Twenty nine cases were diagnosed after the age of two years. Most (95.4%) cases were stage 4-5 virilized. Hysterectomy and bilateral salpingoopherectomy, at a median age of 7.25 (2.4-25.3) years, was performed in 35 cases. Testicular prostheses were placed in 11 (25%) cases at a median age of 11.2 (2.8-17) years. The median final height was 149.2 (132.8-172) cms in 38 patients, including simple virilizing (n=18), salt-wasting (n=6), and 11-beta hydroxylase (n=12). Of the 16 patients above the age of eighteen, university education was completed in 25%., Conclusion: It was seen that most (65.9%) of the 46,XX CAH cases raised male were diagnosed after two years of age. In these cases, hysterectomy and bilateral salpingoopherectomy, genital corrective surgeries and testicular prosthesis operations were performed in a very wide age rage.

Uterine leiomyomas are a common finding in medical practice, but their frequency changes drastically when contextualized in a syndrome, as in the following case. A 50-year-old woman with a known Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome presented at our clinic with abdominal pain located in the lower quadrants and scarcely responsive to analgesic therapy. A twisted gynecological pelvic mass was diagnosed, and management for prompt resolution was adopted. Histologically the mass was described as a leiomyoma. The aim of the present study is to share our experience and to review the literature to compare different manifestation of the disease and different approach used in the various centers. The additional novelty of the paper is the immunohistochemical study we carried out on the leiomyoma that is contrasted with the current etiopathogenetic theories.

Decades of clinical, pathological, and epidemiological study and the recent application of advanced microarray and gene sequencing technologies have led to an understanding of the causes and pathogenesis of most recognized patterns of malformation. Still, there remain a number of patterns of malformation whose pathogenesis has not been established. Six such patterns of malformation are sirenomelia, VACTERL association, OEIS complex, limb-body wall defect (LBWD), urorectal septum malformation (URSM) sequence, and MURCS association, all of which predominantly affect caudal structures. On the basis of the overlap of the component malformations, the co-occurrence in individual fetuses, and the findings on fetal examination, a common pathogenesis is proposed for these patterns of malformation. The presence of a single artery in the umbilical cord provides a visible clue to the pathogenesis of all cases of sirenomelia and 30%-50% of cases of VACTERL association, OEIS complex, URSM sequence, and LBWD. The single artery is formed by a coalescence of arteries that supply the yolk sac, arises from the descending aorta high in the abdominal cavity, and redirects blood flow from the developing caudal structures of the embryo to the placenta. This phenomenon during embryogenesis is termed vitelline vascular steal., (© 2021 Wiley Periodicals LLC.)

The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, a spectrum of anomalies arising from incomplete development of the Müllerian ducts, is characterised by congenital aplasia of the uterus and upper part of the vagina, often in the absence of other phenotypical abnormalities. We report the case of a 13-year-old girl referred to our endocrinology unit after an incidental finding of uterine agenesis during laparoscopy to correct suspected ovarian torsion. Initial transabdominal ultrasonography found no uterus. Given her normal secondary sex characteristics, karyotype and hormone profile, MRKH syndrome was initially diagnosed. However, after vaginal bleeding compatible with menstruation, repeat transabdominal ultrasonography and MRI revealed a left-deviated unicornuate uterus., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2021. No commercial re-use. See rights and permissions. Published by BMJ.)

Study Objective: To explore the effect of the diagnosis of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome on affected Malaysian women., Design: Qualitative study with a quantitative component., Setting: Pediatric and adolescent gynecology unit at Universiti Kebangsaan Malaysia Medical Centre, Malaysia., Participants: Twelve women with MRKH., Interventions: Face-to-face interview and short questionnaire., Main Outcome Measures: Thematic analysis was used to understand participants' experiences., Results: There were 7 themes identified: (1) delayed diagnoses; (2) doctors' roles and attitudes; (3) gender identity; (4) family and society's response; (5) reaction toward infertility; (6) managing sexual intimacy; and (7) coping mechanisms. Several participants consulted their physicians regarding their primary amenorrhea at an opportunistic setting. When they were referred to the gynecologists, they were dismayed at the lack of information given. The term, "MRKH" plays an important role to ease information-seeking. Participants felt that the doctors were insensitive toward them. Mental illness is a significant complication of MRKH. All participants acknowledged that infertility was the hardest part of the condition. The importance of blood lineage affects their outlook on childbearing options. Some were afraid of sexual intimacy and worried that they would not be able to satisfy their partners. Participants gained support and bonded with their counterparts in the MRKH support group., Conclusion: A multidisciplinary approach including medical, psychological, and social support is essential for the management of MRKH. Adequate information and sexual education plays the utmost importance in preventing social-related complications of MRKH., (Copyright © 2021 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.)

Despite numerous clinical series, consistent karyotype-phenotype correlations for Turner syndrome have not been established, although a lower level of 45,X is generally thought to be associated with a milder phenotype. This limits personalized counseling for women with 45,X/46,XX mosaicism. To better understand the phenotypic spectrum associated with various levels of 45,X/46,XX mosaicism, we compared patients evaluated in the Massachusetts General Hospital Turner Syndrome Clinic to determine if cardiac, renal, and thyroid abnormalities correlated with the percentage of 45,X cells present in a peripheral blood karyotype. of the 118 patients included in the study, 78 (66%) patients had non-mosaic 45,X and 40 (34%) patients had varying levels of 45,X/46,XX mosaicism. Patients with ≤70% 45,X compared with those with >70% 45,X had a significantly lower frequency of cardiac and renal anomalies. The presence of hypothyroidism was somewhat lower for the ≤70% 45,X group, but was not statistically significant. Supplemental tissue testing on another tissue type, typically buccal mucosa, was often useful in counseling patients with 45,X mosaicism. Given the modest sample size of patients with varying levels of mosaicism and the variability of Turner syndrome abnormalities, we hope this preliminary study will inspire a multicenter collaboration, which may lead to modification of clinical guidelines. Because several patients with ≤70% 45,X were ascertained from perinatal care referrals, we still advise women with 45,X mosaicism pursuing pregnancy to receive standard Turner syndrome cardiac surveillance. There is an opportunity to personalize counseling and surveillance for patients based on percentage of 45,X cells on chromosome analysis., (Copyright © 2021 Elsevier Masson SAS. All rights reserved.)

Objectives: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is the most common cause of uterine and uterine tubes absence/underdevelopment and the second most common cause of primary amenorrhea. It is characterized by a congenital agenesis of the uterine tubes, uterus, cervix, and upper part of the vagina. This study presents our 10 years of experience with the diagnostics and therapeutic management of patients with MRKH syndrome. We also focused on the description of anatomical deviations of the female reproductive organs., Materials and Methods: We studied a cohort of 16 patients hospitalized with MRKH syndrome between 2011-2020. We analysed the age at diagnosis, clinical signs and symptoms, diagnostic techniques, methods of neovagina creation, and anatomical anomalies of the female reproductive organs., Results: The mean age of our patients at the time of diagnosis was 16.75 years. The most frequent clinical manifestations were primary amenorrhea (56.25 %), pelvic pain (31.25 %) and coitus-associated problems. We used two methods of neovagina creation. In six patients we used the non-surgical Frank's dilators method. The vaginal length at the beginning of the dilation was 1.5-2 cm. In 4 patients the vaginal length was under 1 cm, so we performed surgical neovagina creation using the laparoscopic Vecchietti method. An-other two patients could create the vagina via regular sexual intercourse. Based on magnetic resonance imaging and ultrasound examination, the following anomalies were observed: complete agenesis of the uterus (50 % of cases), fibrous band (25 %) and rudimentary uterus (25 %)., Conclusions: Satisfactory results in the attempt to create a neovagina can be obtained by both non-surgical and surgical methods. Modern medicine provides many therapeutic measures, which make it possible for the affected women to have a normal sexual life (Tab. 1, Fig. 3, Ref. 37).

Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a sexual developmental disorder. In this disorder, there is a congenital absence of the uterus and vagina with normal external genitalia. The etiology is not well understood. Variations of this condition exist that may include congenital abnormalities and psychological problems. In this article, we discuss the case of a 47-year-old African American female who presented with acute renal failure, solitary right kidney, and a pelvic mass extending from the pelvis to the right hypochondrium determined to be a fibroid. The patient was managed by a multidisciplinary team, dialyzed, and planned for removal of the mass. While understanding the low probability of having fibroids without a uterus, fibroids should not be excluded from such patients. It is also important to consider the emotional and psychological well-being of such patients.

Introduction: The aim of the current work was to review the clinical profile, aetiological classification, as well as the management of Egyptian paediatric patients with disorders of sex development (DSD) presenting at a tertiary centre in Cairo., Material and Methods: The study was a cross-sectional observational study that included Egyptian patients who attended the Endocrinology clinic during a period of one year from January to December 2019. All patients with overt genital ambiguity aged from 0 to 18 years were recruited in the study. Diagnosis of DSD was based on clinical features and hormonal profile., Results: Out of 100 patients, 71% had 46XY DSD, 24% had 46XX DSD, while sex chromosome DSD was identified in 5%. The median age of presentation was 12 months with 19% presented during infancy. The most common cause of 46XY DSD was due to either defect in androgen synthesis or action (40%) with the majority due to androgen insensitivity syndrome (28%). Most of the 46XX DSD (21/24) patients were diagnosed as classic congenital adrenal hyperplasia secondary to deficiency of 21 hydroxylase enzyme, with 90% being salt wasters., Conclusion: Our series revealed that 46XY DSD was the most frequent DSD aetiological diagnosis, with androgen insensitivity syndrome representing the commonest cause. CAH with classic salt wasting type was the second most common disorder. Management of children with DSD is challenging especially with lack of adequate resources. The crucial issues that stand against proper diagnosis and management are late presentation combined with economic constrains, and social and cultural issues.

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.)

Aims: 17α-hydroxylase deficiency is a rare form of congenital adrenal hyperplasia (CAH) which is inherited autosomal recessive. It occurs result of a mutations in gene cytochrome (CYP)17A1 , which encodes both 17α-hydroxylase and 17,20-lyase enzymes. The main clinical findings of the disease are delayed puberty, primary amenorrhea in females, and disorders of sex development (DSD) in males. Also, hypertension and hypokalemia can be seen in both sexes. In this paper, we describe the clinical and genetic changes of two patients with 46,XY and 46,XX karyotypes from two different families who were diagnosed with complete 17α-hydroxylase enzyme deficiency. Methods: In this study various methods including clinical, hormonal, radiological and genetic analyzes were used. Blood samples were obtained for genetic tests. Genomic DNA was extracted from peripheral blood leukocytes, and coding sequence abnormalities of the CYP17 gene were assessed by polymerase chain reaction and direct sequencing analysis. Results: 17α-hydroxylase deficiency was diagnosed in 2 patients with 46,XX and 46,XY karyotype who presented with hypertension and delayed puberty. The pQ80 * (c.238C > T) mutation detected in both cases was evaluated as a novel variant.