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Management of Complex Female Genital Malformations

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A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Obstetrics & Gynecology".

Deadline for manuscript submissions: closed (30 May 2022) | Viewed by 30534

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Prof. Dr. K. Katharina Rall

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Head of Pediatric and Adolescent Gynecology and Centre for Rare Female Genital Malformations, IFEPAG Fellow, Department of Women´s Health, Womens University Hospital, Calwerstr. 7, 72076 Tübingen, Germany
Interests: female genital malformations; gynecological surgery/endoscopy; endocrinology and reproductive medicine; pediatric and adolescent gynecology; child protection

Special Issue Information

Dear Colleagues,

Approximately 7% of girls will have an anatomic abnormality in their reproductive tracts, which will be diagnosed before or after puberty depending on the symptoms. It is important to distinguish between and be aware of the different manifestations of obstructive and nonobstructive reproductive tract conditions. Females with nonobstructive anomalies present at various ages due to the asmptomatic nature or late symptom onset. Despite growing research advances, the underlying cause of the majority of anomalies is not known and the phenotype is often very heterogeneous. Many of these genital malformations are associated with anomalies in other organs, making the disease more complex. Fertility and pregnancy outcome are often impaired. The malformations are not always detected early enough, if at all, and primary misdiagnosis and maplractice are common. There are limited data concerning the management of these conditions, especially for the obstructive tract anomalies, and recommendations are often based on consensus and expert opinions. A standardized procedure in diagnostics and therapy is essential to avoid misdiagnoses and inappropriate and/or unnecessary surgery and complications which lead to prolonged suffering and negatively influence the reproductive future. Appropriate embryological knowledge a significant requirement. Some anomalies may require an interdisciplinary approach and a complex surgery involving multiple specialties, and patients should therefore be referred to specialized centres that have experience in treating complex genital malformations.

The objective of this Special Issue is to develop and evaluate the concepts, strategies, and outcomes necessary to improve access to quality care for women suffering from complex genital malformations by taking into account the impact of primary care and patient empowerment, as well as to optimize the interdisciplinary approach.

Prof. Dr. K. Katharina Rall
Guest Editor

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Keywords

female genital malformations
DSD
vaginal reconstruction
neovagina
urogenital sinus
AGS

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Published Papers (12 papers)

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Research

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10 pages, 4893 KiB

Open AccessArticle

Endometriosis in Patients with Mayer-Rokitansky-Küster-Hauser-Syndrome—Histological Evaluation of Uterus Remnants and Peritoneal Lesions and Comparison to Samples from Endometriosis Patients without Mullerian Anomaly

by Sahra Steinmacher, Hans Bösmüller, Massimo Granai, André Koch, Sara Yvonne Brucker and Kristin Katharina Rall

J. Clin. Med. 2022, 11(21), 6458; https://doi.org/10.3390/jcm11216458 - 31 Oct 2022

Cited by 1 | Viewed by 1990

Abstract

Congenital Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a Mullerian-duct anomaly that is characterized by agenesis of the uterus and upper part of the vagina. Uterus remnants of varying sizes can often be found. Although a functional uterus is missing, the existence of endometriosis in this patient group has been described in the literature; however, a histopathological comparison of the characteristics of the endometrium within the uterus remnants versus endometriotic peritoneal lesions in the same patient is lacking. Moreover, the characteristics of endometriotic tissue in patients with MRKH syndrome have not been correlated with those of patients with endometriosis without Mullerian anomaly. Patients who underwent laparoscopic neovagina creation with the removal of uterus remnants and possible resection of endometriotic lesions between 2010 and 2022 at the Department of Women’s health of the University of Tuebingen were included in our study. Uterine remnants and endometriotic tissue were evaluated via histopathology and immunohistochemistry and were compared to endometriotic samples from patients without Mullerian anomaly. Endometriosis was detected in nine MRKH patients; in four patients, endometrial remnants could be sufficiently compared to endometriotic lesions. All samples exhibited increased expression of hormonal receptors. In two patients, Ki67 proliferation index was significantly increased in peritoneal endometriotic lesions compared with the endometrium of the remnants. In contrast, endometrium and endometriotic lesions of endometriosis patients did not exhibit any differences in the Ki67 proliferation index. Our results demonstrate distinctive immunohistochemical variability between uterine remnants and endometriotic lesions in patients with MRKH syndrome compared with patients with endometriosis, indicating a possible explanation model of the yet-unknown etiology of endometriosis. For confirmation, investigation of a broader patient collective is necessary. Full article

(This article belongs to the Special Issue Management of Complex Female Genital Malformations)

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15 pages, 1616 KiB

Open AccessArticle

Genome Sequencing and Transcriptome Profiling in Twins Discordant for Mayer-Rokitansky-Küster-Hauser Syndrome

by Rebecca Buchert, Elisabeth Schenk, Thomas Hentrich, Nico Weber, Katharina Rall, Marc Sturm, Oliver Kohlbacher, André Koch, Olaf Riess, Sara Y. Brucker and Julia M. Schulze-Hentrich

J. Clin. Med. 2022, 11(19), 5598; https://doi.org/10.3390/jcm11195598 - 23 Sep 2022

Cited by 7 | Viewed by 1676

Abstract

To identify potential genetic causes for Mayer-Rokitansky-Küster-Hauser syndrome (MRKH), we analyzed blood and rudimentary uterine tissue of 5 MRKH discordant monozygotic twin pairs. Assuming that a variant solely identified in the affected twin or affected tissue could cause the phenotype, we identified a mosaic variant in ACTR3B with high allele frequency in the affected tissue, low allele frequency in the blood of the affected twin, and almost absent in blood of the unaffected twin. Focusing on MRKH candidate genes, we detected a pathogenic variant in GREB1L in one twin pair and their unaffected mother showing a reduced phenotypic penetrance. Furthermore, two variants of unknown clinical significance in PAX8 and WNT9B were identified. In addition, we conducted transcriptome analysis of affected tissue and observed perturbations largely similar to those in sporadic cases. These shared transcriptional changes were enriched for terms associated with estrogen and its receptors pointing at a role of estrogen in MRKH pathology. Our genome sequencing approach of blood and uterine tissue of discordant twins is the most extensive study performed on twins discordant for MRKH so far. As no clear pathogenic differences were detected, research to evaluate other regulatory layers are required to better understand the complex etiology of MRKH. Full article

(This article belongs to the Special Issue Management of Complex Female Genital Malformations)

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17 pages, 2833 KiB

Open AccessArticle

Reassessment of Surgical Procedures for Complex Obstructive Genital Malformations: A Case Series on Different Surgical Approaches

by Alice Hoeller, Sahra Steinmacher, Katharina Schlammerl, Markus Hoopmann, Christl Reisenauer, Valerie Hattermann, Sara Y. Brucker and Katharina Rall

J. Clin. Med. 2022, 11(17), 5026; https://doi.org/10.3390/jcm11175026 - 26 Aug 2022

Viewed by 1954

Abstract

The objective of this case series was to describe different uterus-preserving surgical approaches and outcomes in patients with complex obstructive Müllerian duct malformation caused by cervical and/or vaginal anomalies. A retrospective analysis was performed including patients undergoing uterovaginal anastomosis (n = 6) or presenting for follow-up (n = 2) at the Department for Gynecology at the University of Tuebingen between 2017 and 2022. Uterovaginal anastomosis was performed with a one-step combined vaginal and laparoscopic approach (method A), a two-step/primary open abdominal approach with primary vaginal reconstruction followed by abdominal uterovaginal anastomosis after vaginal epithelization (method B) or an attempted one-step approach followed by secondary open abdominal uterovaginal anastomosis due to reobstruction (method A/B). Patients presented at a mean age of 15 years. Two patients were treated by method A, four by method B and two by method A/B. Functional anastomosis was established in seven of eight patients, with normal vaginal length in all patients. Concerning uterovaginal anastomosis, the primary open abdominal approach with or without previous vaginal reconstruction seems to have a higher success rate with fewer procedures and should be implemented as standard surgical therapy for complex obstructive genital malformations including the cervix. Full article

(This article belongs to the Special Issue Management of Complex Female Genital Malformations)

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12 pages, 1608 KiB

Open AccessArticle

MYRF: A New Regulator of Cardiac and Early Gonadal Development—Insights from Single Cell RNA Sequencing Analysis

by Verónica Calonga-Solís, Helena Fabbri-Scallet, Fabian Ott, Mostafa Al-Sharkawi, Axel Künstner, Lutz Wünsch, Olaf Hiort, Hauke Busch and Ralf Werner

J. Clin. Med. 2022, 11(16), 4858; https://doi.org/10.3390/jcm11164858 - 18 Aug 2022

Cited by 3 | Viewed by 2577

Abstract

De novo variants in the myelin regulatory factor (MYRF), a transcription factor involved in the differentiation of oligodendrocytes, have been linked recently to the cardiac and urogenital syndrome, while familiar variants are associated with nanophthalmos. Here, we report for the first time on a patient with a de novo stop-gain variant in MYRF (p.Q838*) associated with Scimitar syndrome, 46,XY partial gonadal dysgenesis (GD) and severe hyperopia. Since variants in MYRF have been described in both 46,XX and 46,XY GD, we assumed a role of MYRF in the early development of the bipotential gonad. We used publicly available single cell sequencing data of human testis and ovary from different developmental stages and analysed them for MYRF expression. We identified MYRF expression in the subset of coelomic epithelial cells at stages of gonadal ridge development in 46,XX and 46,XY individuals. Differential gene expression analysis revealed significantly upregulated genes. Within these, we identified CITED2 as a gene containing a MYRF binding site. It has been shown that Cited2^−/− mice have gonadal defects in both testis and ovary differentiation, as well as defects in heart development and establishment of the left–right axis. This makes MYRF a potential candidate as an early regulator of gonadal and heart development via upregulation of the transcriptional cofactor CITED2. Full article

(This article belongs to the Special Issue Management of Complex Female Genital Malformations)

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11 pages, 267 KiB

Open AccessArticle

Long-Term Results of Surgical Treatment and Patient-Reported Outcomes in Congenital Adrenal Hyperplasia—A Multicenter European Registry Study

by Susanne Krege, Henrik Falhammar, Hildegard Lax, Robert Roehle, Hedi Claahsen-van der Grinten, Barbara Kortmann, Lise Duranteau and Agneta Nordenskjöld

J. Clin. Med. 2022, 11(15), 4629; https://doi.org/10.3390/jcm11154629 - 8 Aug 2022

Cited by 10 | Viewed by 2662

Abstract

Representatives for congenital adrenal hyperplasia (CAH) continue to desire early feminizing surgery in girls with 46,XX-CAH. The aim of this analysis, which included 174 46,XX- individuals with salt-wasting (SW) or simple-virilizing (SV) CAH, a female gender identity, and an age > 16 years participating in a multicenter cross-sectional clinical evaluation study (dsd-LIFE), was to evaluate the long-term results of surgery and patient-reported outcomes (PRO). The gynecological examination (n = 84) revealed some shortcomings concerning surgical feminization. A clitoris was absent in 9.5% of cases, while a clitoral hood was missing in 36.7% of cases. Though all women had large labia, they didn’t look normal in 22.6% of cases. Small labia were absent in 23.8% of cases. There was no introitus vaginae, and the urethra and vagina had no separate opening in 5.1% of cases. A mucosal lining was missing in 15.4% of cases. Furthermore, 86.2% of the women had scars at the region of their external genitalia. A vaginal stenosis was described in 16.5% of cases, and a meatal stenosis was described in 2.6% of cases. Additionally, PRO data showed a very-/high satisfaction rate of 21.3%/40.2% with cosmesis and 23.8%/38.1% with functionality, while 3.3%/10.7% showed a very-/low satisfaction with cosmesis as well as 5.6%/10.3% with functionality. The remaining women—24.6% and 23.8%—were indifferent. Satisfaction concerning sex life was very-/high in 9.6%/27.7%. In 12.0%/16.9% it was very-/low. Furthermore, 33.7% had no opinion. Furthermore, 27.0%/31.6% of the women reported that clitoriplasty, but not clitoridectomy, had a very-/positive influence on their lives, while 1.3%/8.9% felt it to be very-/negative, and 28.4% were indifferent. Vaginoplasty had a very-/positive influence in 25.7%/33.8% and a very-/negative effect in 3.6%/6.8%. 29.7% had no opinion. Additionally, 75.7% of the women preferred feminizing surgery during infancy/childhood, especially concerning clitoreduction. In conclusion, though the majority of the participants (76%) preferred early feminizing surgery and 60% described a positive effect on their lives, about 10% felt it to have been negative. About 15% of the women suffered from insufficient cosmesis and functionality after surgery. Sex life was even described as poor in nearly 30%. Therefore, the decision about early genital surgery in 46,XX-CAH girls should be considered carefully. Parents should get detailed information about possible complications of surgery and should receive support to understand that postponing surgery does not inevitably cause harm for their child. Importantly, genital surgery when performed in children should only be performed in expert centers with a specialized team including surgeons who are trained in feminizing surgery. Full article

(This article belongs to the Special Issue Management of Complex Female Genital Malformations)

13 pages, 305 KiB

Open AccessArticle

Body Image and Quality of Life in Women with Congenital Adrenal Hyperplasia

by Lea Tschaidse, Marcus Quinkler, Hedi Claahsen-van der Grinten, Anna Nordenström, Aude De Brac de la Perriere, Matthias K. Auer and Nicole Reisch

J. Clin. Med. 2022, 11(15), 4506; https://doi.org/10.3390/jcm11154506 - 2 Aug 2022

Cited by 6 | Viewed by 1988

Abstract

Objective: Women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH) may have poor quality of life (QoL) and low satisfaction with body appearance. We investigated the influence of the patients’ satisfaction with their support on their QoL and body image. Design: Retrospective, comparative, Europe-wide study as part of the multicenter dsd-LIFE study. Methods: 203 women with CAH were included in this study. We investigated the patients’ QoL and body image compared to a healthy control group. The patients’ satisfaction with their treatment and support in childhood and adolescence as well as in adulthood was assessed by questionnaire and its influence on the patients’ body image and QoL was analyzed by multiple regression models. Results: Women with CAH showed worse body image and poorer physical, psychological and social QoL compared to a healthy reference population. The patients’ satisfaction with professional care in the last 12 months was a significant positive predictor for all four domains of QoL (psychological, physical, social, environmental). Dissatisfaction with care in childhood and adolescence and with general support through different stages of life was a significant negative predictor for QoL and body image. Conclusions: These results show that women with CAH have poor QoL and body image compared to a healthy reference population. Psychosocial factors such as general and family support, and social interactions with professionals have a substantial impact on QoL and body image in adult females with CAH. This should be taken into account regarding patient care and multimodal therapy. Full article

(This article belongs to the Special Issue Management of Complex Female Genital Malformations)

10 pages, 449 KiB

Open AccessArticle

Identifying the Resource Needs of Young People with Differences of Sex Development

by Gina Tonkin-Hill, Chloe Hanna, Roberto Bonelli, Rowena Mortimer, Michele A. O’Connell and Sonia R. Grover

J. Clin. Med. 2022, 11(15), 4372; https://doi.org/10.3390/jcm11154372 - 27 Jul 2022

Cited by 1 | Viewed by 1384

Abstract

Adolescents with differences of sex development (DSD) often have complex medical, surgical, and psychological care needs and require age-appropriate resources. This cross-sectional study describes the past and current experiences of adolescents and young adults with DSD and their need for information and support. Participants aged 14–30 years with DSD diagnoses were identified, either from departmental records at the Royal Children’s Hospital (RCH), Melbourne, Australia, or from the private practice of a gynecologist linked to RCH. Anonymized data were collected from a specifically designed online survey. Of the 314 successfully traced patients, 91 (28.9%) completed the survey. Amongst respondents, older age was strongly correlated with higher levels of distress at the time of disclosure (b = 0.67, p < 0.001). People who reported greater understanding of their condition (b = −0.45, p = 0.010) and higher levels of support (b = −0.40, p = 0.003) identified lower levels of current distress. Respondents preferred to receive information from a specialist doctor, GP, or websites and reported information needs being highest during adolescence. Only one in four respondents recalled ever being offered psychological support. A number of perceived barriers to accessing support were identified. Our findings indicate that young people’s information and support needs may be best met by improving online resources, as well as increasing introductions to knowledgeable and appropriate primary care physicians, psychological services, and peer support groups. Further work to promote and increase engagement with psychological and peer support for those with DSD will be important. Full article

(This article belongs to the Special Issue Management of Complex Female Genital Malformations)

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14 pages, 720 KiB

Open AccessArticle

Diagnosis of DSD in Children—Development of New Tools for a Structured Diagnostic and Information Management Program within the Empower-DSD Study

by Katja Wechsung, Louise Marshall, Martina Jürgensen, Uta Neumann and on behalf of the Empower-DSD Study Group

J. Clin. Med. 2022, 11(13), 3859; https://doi.org/10.3390/jcm11133859 - 3 Jul 2022

Viewed by 2374

Abstract

Background: Current recommendations define a structured diagnostic process, transparent information, and psychosocial support by a specialized, multi-professional team as central in the care for children and adolescents with genital variations and a suspected difference of sex development (DSD). The active involvement of the child and their parents in shared decision-making should result in an individualized care plan. So far, this process has not been standardized. Methods: Within the Empower-DSD study, a team of professionals and representatives of patient advocacy groups developed a new diagnostic and information management program based on current recommendations and existing patient information. Results: The information management defines and standardizes generic care elements for the first weeks after a suspected DSD diagnosis. Three different tools were developed: a guideline for the specialized multiprofessional team, a personal health record and information kit for the child with DSD and their family, and a booklet for medical staff not specialized in DSD. Conclusions: The new information management offers guidance for patients and professionals during the first weeks after a DSD diagnosis is suspected. The developed tools’ evaluation will provide further insight into the diagnostic and information-sharing process as well as into all of the involved stakeholders’ needs. Full article

(This article belongs to the Special Issue Management of Complex Female Genital Malformations)

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9 pages, 2255 KiB

Open AccessArticle

Laparoscopic Vaginoplasty Procedure Using a Modified Peritoneal Pull-Down Technique with Uterine Strand Incision in Patients with Mayer–Rokitansky–Küster–Hauser Syndrome: Kisu Modification

by Iori Kisu, Miho Iida, Kanako Nakamura, Kouji Banno, Tetsuro Shiraishi, Asahi Tokuoka, Keigo Yamaguchi, Kunio Tanaka, Moito Iijima, Hiroshi Senba, Kiyoko Matsuda and Nobumaru Hirao

J. Clin. Med. 2021, 10(23), 5510; https://doi.org/10.3390/jcm10235510 - 25 Nov 2021

Cited by 2 | Viewed by 6822

Abstract

Various vaginoplasty procedures have been developed for patients with Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome. Here, we describe a novel laparoscopic vaginoplasty procedure, known as the Kisu modification, using a pull-down technique of the peritoneal flaps with additional structural support to the neovaginal apex using the incised uterine strand in patients with MRKH syndrome. Ten patients with MRKH syndrome (mean age at surgery: 23.9 ± 6.5 years, mean postoperative follow-up period: 17.3 ± 3.7 months) underwent construction of a neovagina via laparoscopic vaginoplasty. All surgeries were performed successfully without complications. The mean neovaginal length at discharge was 10.3 ± 0.5 cm. Anatomical success was achieved in all patients, as two fingers were easily introduced, the neovagina was epithelialized, and the mean neovaginal length was 10.1 ± 1.0 cm 1 year postoperatively. No obliteration, granulation tissue formation at the neovaginal apex, or neovaginal prolapse was recorded. Five of the 10 patients attempted sexual intercourse and all five patients were satisfied with the sexual activity, indicating functional success. Although the number of cases in this case series is few, our favorable experience suggests that the Kisu modification of laparoscopic vaginoplasty procedure is an effective, feasible, and safe approach for neovaginal creation in patients with MRKH syndrome. Full article

(This article belongs to the Special Issue Management of Complex Female Genital Malformations)

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Review

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10 pages, 249 KiB

Open AccessReview

An Interdisciplinary Approach to Müllerian Outflow Tract Obstruction Associated with Cloacal Malformation and Cloacal Exstrophy

by Bryan S. Sack, K. Elizabeth Speck, Anastasia L. Hryhorczuk, David E. Sandberg, Kate H. Kraft, Matthew W. Ralls, Catherine E. Keegan, Elisabeth H. Quint and Melina L. Dendrinos

J. Clin. Med. 2022, 11(15), 4408; https://doi.org/10.3390/jcm11154408 - 28 Jul 2022

Cited by 1 | Viewed by 1433

Abstract

People with cloacal malformation and 46,XX cloacal exstrophy are at risk of developing Müllerian outflow tract obstruction (OTO). Management of OTO requires expertise of many medical and surgical specialties. The primary presenting symptom associated with OTO is cyclical and later continuous pain and can be initially quelled with hormonal suppression as a temporizing measure to allow for patient maturation. The decision for timing and method of definitive treatment to establish a patent outflow tract that can also be used for penetrative sexual activity and potential fertility is a complicated one and incredibly variable based on patient age alone. To understand the management approach to OTO, we put forth five phases with associated recommendations: (1) caregiver and patient education and evaluation before obstruction; (2) presentation, diagnosis, and symptom temporization; (3) readiness assessment; (4) peri-procedural management; (5) long-term surveillance. This review will emphasize the importance of interdisciplinary team management of the complex shared medical, surgical, and psychological decision making required to successfully guide developing patients with outflow obstruction secondary to cloacal malformations and cloacal exstrophy through adolescence. Full article

(This article belongs to the Special Issue Management of Complex Female Genital Malformations)

Other

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11 pages, 1505 KiB

Open AccessCase Report

Ectopic Prostate Tissue in the Uterine Cervix of a Female with Non-Classic Congenital Adrenal Hyperplasia—A Case Report

by Lea Tschaidse, Matthias K. Auer, Ilja Dubinski, Christian Lottspeich, Hanna Nowotny, Heinrich Schmidt, Nadezda Gut and Nicole Reisch

J. Clin. Med. 2022, 11(15), 4307; https://doi.org/10.3390/jcm11154307 - 25 Jul 2022

Cited by 1 | Viewed by 1723

Abstract

Introduction: The occurrence of ectopic prostate tissue in the female genital tract is rare and has only been described sporadically. The origin of these lesions is unclear, but their appearance seems to be associated with various forms of androgen excess, including androgen therapy for transgender treatment or disorders of sex development, such as classic congenital adrenal hyperplasia (CAH). This is the first described case of ectopic prostate tissue in the cervix uteri of a 46,XX patient with a confirmed diagnosis of non-classic CAH due to 21-OHD and a history of mild adrenal androgen excess. Case presentation: We describe a 34-year-old patient with a genetic diagnosis of non-classic CAH due to 21-hydroxylase deficiency (21-OHD) with a female karyo- and phenotype and a history of mild adrenal androgen excess. Due to dysplasia in the cervical smear, conization had to be performed, revealing ectopic prostate tissue in the cervix uteri of the patient. Conclusions: An association between androgen excess and the occurrence of prostate tissue is likely and should therefore be considered as a differential diagnosis for atypical tissue in the female genital tract. Full article

(This article belongs to the Special Issue Management of Complex Female Genital Malformations)

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8 pages, 2003 KiB

Open AccessCase Report

Primary Amenorrhea with Apparently Absent Uterus: A Report of Three Cases

by Eva Porsius, Marian Spath, Kirsten Kluivers, Willemijn Klein and Hedi Claahsen-van der Grinten

J. Clin. Med. 2022, 11(15), 4305; https://doi.org/10.3390/jcm11154305 - 25 Jul 2022

Cited by 3 | Viewed by 2739

Abstract

Background: The apparent absence of a uterus upon imaging women with primary amenorrhea appears to lead to a high risk of misdiagnosis, which will lead to significant mental distress in patients. Case: Three young females with primary amenorrhea were referred with a diagnosis of Mayer–Rokitansky–Kuster–Hauser syndrome based on radiological findings of an apparently absent uterus. In two patients, the absence of the uterus could be confirmed, but with various diagnoses. The other patient had a normal but unstimulated uterus due to her hypoestrogenic state. Summary and Conclusion: The presented cases illustrate the broad differential diagnoses and the specific pitfalls of primary amenorrhea with an apparently absent uterus upon imaging. A well-established diagnosis was only possible through a thorough correlation of imaging findings with clinical history, biochemical findings and physical examination. Full article

(This article belongs to the Special Issue Management of Complex Female Genital Malformations)

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