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Female Genital Malformations: Diagnosis, Surgical Treatment and Their Impact on Fertility

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 (15 February 2021) | Viewed by 69836

Special Issue Editors


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Guest Editor
1. Leader of PARESAN Research Group, Chief of Gynecology and Head of Reproductive Unit at Obstetrics and Gynecology Department, San Juan University Hospital, Alicante, Spain
2. Associate Professor at Miguel Hernández University, Alicante, Spain
Interests: female genital malformations; endometriosis; reproductive prognosis; human reproduction; gynecological surgery

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Co-Guest Editor
Emeritus Professor at Miguel Hernández University, Alicante, Spain
Interests: female genital malformations; endometriosis; reproductive medicine; endocrinology; ovarian tumors; gynecological surgery

Special Issue Information

Dear Colleagues,

The presentation of the malformations of the female genital tract is influenced by multifactorial, polygenic, and familiar mechanisms that together can create a favorable environment to provoke the anomaly, but the direct cause or association of the majority of anomalies is not known despite the research advances that have been done on this field. Instead, the embryological development and the chain of anatomical events that eventually lead to a malformation are better known, although less discussed.
The malformations of the female genital tract are frequent, especially those affecting the uterus, but are not always detected. The screening methods, diagnostic tools, and diagnosis cut-off criteria influence their prevalence and classification with an impact upon deciding whether a surgical intervention and which type has to be taken on a uterine malformation, as well as clarifying whether surgical correction enhances fertility.
Spontaneous fertility, success rate after ART, and pregnancy outcome are impaired in women with uterus malformations. The impact of each malformation has been discussed, but the etiology of such poor reproductive performance is not clear. Some hypotheses can better explain infertility and early losses due to altered receptivity and implantation, while others would more clearly explain the late losses, preterm labor or breech presentation.
Surgical treatment of complex genitourinary malformations, including cervicovaginal atresia or MRKH, among others, as well as the treatment of most DSDs, must be carefully planned so as to avoid complications or impact the reproductive future of the affected teens.

Dr. Maribel Acién
Prof. emer Pedro Acién
Guest Editors

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Keywords

  • female genital malformations
  • female genitourinary tract
  • uterus malformations
  • etiology
  • pathogenesis, embryology
  • diagnostic tools
  • classification
  • fertility
  • reproductive outcome
  • surgery
  • neovagina
  • uterus transplantation
  • septoplasty
  • Mayer–Rokitansky–Kuster–Hauser syndrome (MRKH)
  • disorders of sexual development (DSD)

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Published Papers (8 papers)

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Research

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32 pages, 2061 KiB  
Article
Long Term Findings Concerning the Mental and Physical Condition, Quality of Life and Sexuality after Laparoscopically Assisted Creation of a Neovagina (Modified Vecchietti Technique) in Young MRKHS (Mayer-Rokitansky-Küster-Hauser-Syndrome) Patients
by Katharina Rall, Bernadette Schenk, Norbert Schäffeler, Dorit Schöller, Andrina Kölle, Birgitt Schönfisch and Sara Y. Brucker
J. Clin. Med. 2021, 10(6), 1269; https://doi.org/10.3390/jcm10061269 - 18 Mar 2021
Cited by 9 | Viewed by 2204
Abstract
The Mayer-Rokitansky-Küster-Hauser-syndrome (MRKHS) is characterized by a congenital uterine and vaginal aplasia. A large body of literature reports that a diagnosis of MRKHS has a variety of psychological effects on patients and doubts about female identity. The aim of the underlying study was [...] Read more.
The Mayer-Rokitansky-Küster-Hauser-syndrome (MRKHS) is characterized by a congenital uterine and vaginal aplasia. A large body of literature reports that a diagnosis of MRKHS has a variety of psychological effects on patients and doubts about female identity. The aim of the underlying study was to detect the patient-reported physical and mental health and sexual function before and after laparoscopically assisted creation of a neovagina. 160 women with MRKHS who underwent this type of surgery between September 2009 and December 2015 were invited to complete the questionnaires. Packages consisting of six questionnaires were handed out before surgery, six and 12 months after surgery. Data from 82 patients could be included in the study. Patients had a mean age of 19.9 years at inclusion in the study. We detected an impairment of the health-related mental quality of life. There was no higher risk for psychological disorders. MRKHS patients show similar self-acceptance and normal body image compared to the general population. The sexual function is limited before surgery and normalizes after surgery. Useful factors for coping with the disease are an interdisciplinary approach in diagnostics and treatment, psychosocial adaptation as well as a supportive social environment. Full article
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12 pages, 2547 KiB  
Article
Uterine Fundus Remodeling after Hysteroscopic Metroplasty: A Prospective Pilot Study
by Paolo Casadio, Giulia Magnarelli, Mariangela La Rosa, Andrea Alletto, Alessandro Arena, Enrico Fontana, Ciro Morra, Maria Rita Talamo, Matilde Fabbri, Kevin Giovannico, Agnese Virgilio, Diego Raimondo, Francesca Guasina, Roberto Paradisi and Renato Seracchioli
J. Clin. Med. 2021, 10(2), 260; https://doi.org/10.3390/jcm10020260 - 12 Jan 2021
Cited by 7 | Viewed by 6861
Abstract
The septate uterus is the most common congenital uterine malformation and is treated by hysteroscopic metroplasty. There are few studies on the fundal uterine changes that occur after surgery. We designed a pilot prospective observational study to evaluate by three-dimensional transvaginal ultrasound (3D-TVS) [...] Read more.
The septate uterus is the most common congenital uterine malformation and is treated by hysteroscopic metroplasty. There are few studies on the fundal uterine changes that occur after surgery. We designed a pilot prospective observational study to evaluate by three-dimensional transvaginal ultrasound (3D-TVS) the changes not only of the internal fundal uterine profile, but also of the external one, after hysteroscopic metroplasty. Sixty women who underwent hysteroscopic metroplasty for partial or complete uterine septum (U2a and U2b subclasses of ESHRE/ESGE classification) were enrolled. We performed 3D-TVS after surgery confirming optimal removal of the septum. However, at ultrasound follow-up after three months, we observed a significant increase (p < 0.001) in the residual septum (Zr) (3.7 mm (95% CI: 3.1–4.4)), the myometrial wall thickness (Y) (2.5 mm (95% CI: 2.0–3.0)) and the total fundal wall thickness (Y + Zr) (6.2 mm (95% CI: 5.5–6.9)). Forty-three patients (72%) required a second step of hysteroscopic metroplasty. Moreover, the shape of uterine fundus changed in 58% of cases. We actually observed a remodeling of the uterine fundus with modifications of its external and internal profiles. Therefore, we propose to always perform a second ultrasound look at least three months after the metroplasty to identify cases that require a second- step metroplasty. Full article
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8 pages, 468 KiB  
Article
Reproductive Performance Following Hysteroscopic Surgery for Uterine Septum: Results from a Single Surgeon Data
by Ertan Saridogan, Mona Salman, Lerzan Sinem Direk and Ali Alchami
J. Clin. Med. 2021, 10(1), 130; https://doi.org/10.3390/jcm10010130 - 2 Jan 2021
Cited by 7 | Viewed by 3001
Abstract
Uterine septum can negatively affect reproductive outcomes in women. Based on evidence from retrospective observational studies, hysteroscopic incision has been considered a solution to improve reproductive performance, however there has been recent controversy on the need for surgery for uterine septum. High quality [...] Read more.
Uterine septum can negatively affect reproductive outcomes in women. Based on evidence from retrospective observational studies, hysteroscopic incision has been considered a solution to improve reproductive performance, however there has been recent controversy on the need for surgery for uterine septum. High quality evidence from prospective studies is still lacking, and until it is available, experts are encouraged to publish their data. We are therefore presenting our data that involves analysis of the patient characteristics, surgical approach and long-term reproductive outcomes of women who received treatment for uterine septum under the care of a single surgeon. This includes all women (99) who underwent hysteroscopic surgery for uterine septum between January 2001 and December 2019. Of those 99 women treated for intrauterine septum who were trying to conceive, 91.4% (64/70) achieved pregnancy, 78.6% (55/70) had live births and 8.6% (6/70) had miscarriages. No statistically significant difference was found in the live birth rates when data was analyzed in subgroups based on age, reason for referral/aetiology and severity of pathology. Our study results support the view that surgical treatment of uterine septa is beneficial in improving reproductive outcomes. Full article
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9 pages, 249 KiB  
Article
Could Training in an Anatomical Model Be Useful to Teach Different Neovagina Surgical Techniques? A Descriptive Study about Knowledge and Experience of Techniques for Neovagina Surgery
by María Luísa Sanchez-Ferrer, Grigoris Grimbizis, Michele Nisolle, Enrique Salmeron-González, Luis Gómez-Pérez, Francisco Sánchez del Campo and Maribel Acién
J. Clin. Med. 2020, 9(11), 3722; https://doi.org/10.3390/jcm9113722 - 19 Nov 2020
Cited by 1 | Viewed by 1871
Abstract
Neovagina surgery in patients with vaginal agenesis is rare. No consensus exists regarding the best surgical technique. The aims of the current study were to show a new Thiel-embalmed cadaveric model to teach the surgical steps for different techniques of neovagina surgery and [...] Read more.
Neovagina surgery in patients with vaginal agenesis is rare. No consensus exists regarding the best surgical technique. The aims of the current study were to show a new Thiel-embalmed cadaveric model to teach the surgical steps for different techniques of neovagina surgery and to evaluate opinions of this surgical teaching procedure. Four techniques—modified McIndoe, Vecchietti, Davydov, and vulvoperineal pediculated flaps—were recorded using an external camera and/or laparoscopic vision during their execution in a dissection room on “feminized” male cadavers. To determine the opinion of this teaching model, we designed an anonymous online survey that was available to participants via a computer application. After watching the video, more than 92% of participants agreed that feminized male cadavers were an excellent procedure for teaching these surgical techniques. Before watching this video, the most employed techniques were the McIndoe and Vecchietti procedures. After watching the video, modified McIndoe and vulvoperineal flaps were preferred by participants because they were considered to be easier to perform. It was considered that this model was useful for training neovagina techniques and, moreover, it should be recommended before techniques were performed on a real patient. Further investigation is needed to validate this model. Full article
9 pages, 1355 KiB  
Article
Classical McIndoe Technique Versus the McIndoe Technique with a Neovaginal PACIENA Prosthesis® and No Skin Graft
by Victoria Navarro, Maria Isabel Acién and Pedro Acién
J. Clin. Med. 2020, 9(11), 3648; https://doi.org/10.3390/jcm9113648 - 13 Nov 2020
Cited by 6 | Viewed by 1890
Abstract
An observational, retrospective study was completed to compare the results of the PACIENA clinical trial (using the modified McIndoe technique) with a historical control group of nine patients who were operated on at San Juan University Hospital (1992–2015) using the classic technique. The [...] Read more.
An observational, retrospective study was completed to compare the results of the PACIENA clinical trial (using the modified McIndoe technique) with a historical control group of nine patients who were operated on at San Juan University Hospital (1992–2015) using the classic technique. The PACIENA clinical trial included seven patients with vaginal agenesis who were operated on at two reference sites (May 2017–May 2018) using a neovaginal polylactic acid (PLA) prosthesis (PACIENA® prosthesis) and avoiding the use of a skin graft. The results illustrate a reduction in the length of surgery, 86.43 ± 4.75 min in the group with no skin graft compared to 155.56 ± 28.44 in the control group (p < 0.05); and reduction in the length of hospitalization time. Differences were also registered in the length of the neovagina, the average being 8.93 ± 1.42 cm for cases and 6.56 ± 1.13 cm for controls, with no differences in neovaginal epithelialization times or in the satisfaction of sexual relations occurring between groups. The modification of the classical McIndoe technique using the neovaginal PACIENA® prosthesis appears to be successful, obtaining good clinical results with shorter surgery and hospitalization times. Full article
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8 pages, 499 KiB  
Article
Dysmorphic Uteri: Obstetric Results after Hysteroscopic Office Metroplasty in Infertile and Recurrent Pregnancy Loss Patients. A Prospective Observational Study
by Mónica Sánchez-Santiuste, Mar Ríos, Laura Calles, Reyes de la Cuesta, Virginia Engels, Augusto Pereira and Tirso Pérez-Medina
J. Clin. Med. 2020, 9(9), 2857; https://doi.org/10.3390/jcm9092857 - 4 Sep 2020
Cited by 5 | Viewed by 3029
Abstract
To compare the obstetric results achieved after hysteroscopic office metroplasty (HOME-DU) in infertile and recurrent pregnancy loss (RPL) patients diagnosed with dysmorphic uterus, women hysteroscopically diagnosed with dysmorphic uterus who underwent uterine-enlargement metroplasty were prospectively enrolled from June 2016 until April 2020. Patients [...] Read more.
To compare the obstetric results achieved after hysteroscopic office metroplasty (HOME-DU) in infertile and recurrent pregnancy loss (RPL) patients diagnosed with dysmorphic uterus, women hysteroscopically diagnosed with dysmorphic uterus who underwent uterine-enlargement metroplasty were prospectively enrolled from June 2016 until April 2020. Patients were followed up and obstetric outcomes were recorded (pregnancy and live birth rate). Sixty-three women (30 infertile; 33 RPL) were enrolled, of which 48 became pregnant post-HOME-DU, with an overall pregnancy rate of 76.2% (66.7% among infertile participants; 84.9% among those with RPL). Overall, 64.3% (n = 36/63) achieved live birth. Among infertile women, 62.07% (n = 18/29) achieved live birth, as well as 66.7% of women with RPL (n = 18/27). The difference in live birth rates between both cohorts was 4.6% (p > 0.05). The rate of miscarriage amongst infertile patients was 3.3% (n = 1/30) and 12.1% amongst women with RPL (n = 4/33). Office metroplasty via the HOME-DU technique improves obstetric results (namely increasing live birth rate) in patients with dysmorphic uterus and a history of reproductive failure. No significant difference was found in the clinical efficacy of HOME-DU in infertile and RPL patients. Full article
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Review

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10 pages, 1024 KiB  
Review
Gynecological Problems in Newborns and Infants
by Katarzyna Wróblewska-Seniuk, Grażyna Jarząbek-Bielecka and Witold Kędzia
J. Clin. Med. 2021, 10(5), 1071; https://doi.org/10.3390/jcm10051071 - 4 Mar 2021
Cited by 5 | Viewed by 16123
Abstract
Pediatric-adolescent or developmental gynecology has been separated from general gynecology because of the unique issues that affect the development and anatomy of growing girls and young women. It deals with patients from the neonatal period until maturity. There are not many gynecological problems [...] Read more.
Pediatric-adolescent or developmental gynecology has been separated from general gynecology because of the unique issues that affect the development and anatomy of growing girls and young women. It deals with patients from the neonatal period until maturity. There are not many gynecological problems that can be diagnosed in newborns; however, some are typical of the neonatal period. This paper aims to discuss the most frequent gynecological issues in the neonatal period. Full article
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33 pages, 1309 KiB  
Review
Disorders of Sex Development: Classification, Review, and Impact on Fertility
by Pedro Acién and Maribel Acién
J. Clin. Med. 2020, 9(11), 3555; https://doi.org/10.3390/jcm9113555 - 4 Nov 2020
Cited by 37 | Viewed by 33267
Abstract
In this review, the elements included in both sex determination and sex differentiation are briefly analyzed, exposing the pathophysiological and clinical classification of disorders or anomalies of sex development. Anomalies in sex determination without sex ambiguity include gonadal dysgenesis, polysomies, male XX, and [...] Read more.
In this review, the elements included in both sex determination and sex differentiation are briefly analyzed, exposing the pathophysiological and clinical classification of disorders or anomalies of sex development. Anomalies in sex determination without sex ambiguity include gonadal dysgenesis, polysomies, male XX, and Klinefelter syndrome (dysgenesis and polysomies with a female phenotype; and sex reversal and Klinefelter with a male phenotype). Other infertility situations could also be included here as minor degrees of dysgenesis. Anomalies in sex determination with sex ambiguity should (usually) include testicular dysgenesis and ovotesticular disorders. Among the anomalies in sex differentiation, we include: (1) males with androgen deficiency (MAD) that correspond to those individuals whose karyotype and gonads are male (XY and testes), but the phenotype can be female due to different hormonal abnormalities. (2) females with androgen excess (FAE); these patients have ovaries and a 46,XX karyotype, but present varying degrees of external genital virilization as a result of an enzyme abnormality that affects adrenal steroid biosynthesis and leads to congenital adrenal hyperplasia; less frequently, this can be caused by iatrogenia or tumors. (3) Kallman syndrome. All of these anomalies are reviewed and analyzed herein, as well as related fertility problems. Full article
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