Management of congenital female genital tract anomalies related to primary amenorrhea and/or cyclic abdominal pain: A retrospective cohort study.

G.G.: Conception and design; main surgeon; acquisition; analysis and interpretation of data; manuscript writing and editing. S.T.: Analysis and interpretation of data; manuscript writing and editing. E.I.: Analysis and interpretation of data; outpatient evaluation and follow‐up of the patients; manuscript editing. G.K.: Analysis and interpretation of data; manuscript editing. A.V: Analysis and interpretation of data; outpatient evaluation and follow‐up of the patients; manuscript editing. T.T: Acquisition of data; surgical team; manuscript editing. All authors critically revised and approved the manuscript.

The study protocol was reviewed by the institutional ethics committee and was exempted from formal approval due to its retrospective design and use of anonymized data. Informed written consent was obtained for the treatment from each participant as necessary, and from their parents/legal guardians when necessary. Also, fully informed consent was obtained from all patients to report and present anonymized data or any photographic material.

This research received no external funding.

Forty‐eight patients were included in this study. The ESHRE/ESGE classification was used, categorizing independently the uterine body, cervical, and vaginal anomalies; the patient's anatomical characteristics according to the number of affected organs and symptoms are presented in Table  1 . The mean age at the first consultation is 18.7 ± 5.5 years old. Patient's characteristics and classification according to the number of the affected organs. Primary presenting symptoms as the reason for the first consultation were 19/48 (39.6%) primary amenorrhea, 11/48 (22.9%) primary amenorrhea and cyclic abdominal pain, 3/48 (6.2%) primary amenorrhea and difficulty in sexual intercourse, and 15/48 (31.3%) cyclic abdominal pain (Table  1 ). The distribution of patients according to the number of affected organs is as follows (Table  1 ): Thirty patients presented with genital malformations in all three organs . Twenty‐one had uterine body, cervical, and vaginal aplasia (U5bC4V4), also known as Mayer–Rokitansky–Küster–Hauser syndrome, and three presented a rudimentary cavity together with cervical and vaginal aplasia (U5aC4V4). All those patients complained of primary amenorrhea; those with a rudimentary cavity additionally for cyclic abdominal pain. Few of them had tried unsuccessfully to have sexual intercourse. The remaining patients had a complete bicorporeal uterus with a double cervix: five with a longitudinal obstructing vaginal septum (U3bC2V2), having as presenting symptom cyclic abdominal pain, and one of them with a transverse vaginal septum (U3bC2V4), presented with primary amenorrhea and cyclic abdominal pain. Five patients presented with malformations in two organs . One patient had cervical and vaginal aplasia (U0C4V4), presenting with primary amenorrhea and difficulty in initiating her sexual life. Two were diagnosed with a complete bicorporeal uterus and a unilateral cervical aplasia (U3bC3V0). Two patients presented with a transverse vaginal septum and a uterine body anomaly; one had a complete bicorporeal uterus (U3bC0V3) and the other a unicorporeal uterus without a rudimentary cavity (U4bC0V3). All four of these presented with cyclic abdominal pain. Thirteen patients had a malformation in only one organ of their genital tract. Six had a unicorporeal with a rudimentary cavity uterus (U4aC0V0), complaining about cyclic abdominal pain, one with cervical aplasia (U0C4V0) with primary amenorrhea and cyclic abdominal pain, and six with a transverse vaginal septum (U0C0V3) with cyclic abdominal pain and primary amenorrhea. Thirty patients presented with genital malformations in all three organs . Twenty‐one had uterine body, cervical, and vaginal aplasia (U5bC4V4), also known as Mayer–Rokitansky–Küster–Hauser syndrome, and three presented a rudimentary cavity together with cervical and vaginal aplasia (U5aC4V4). All those patients complained of primary amenorrhea; those with a rudimentary cavity additionally for cyclic abdominal pain. Few of them had tried unsuccessfully to have sexual intercourse. The remaining patients had a complete bicorporeal uterus with a double cervix: five with a longitudinal obstructing vaginal septum (U3bC2V2), having as presenting symptom cyclic abdominal pain, and one of them with a transverse vaginal septum (U3bC2V4), presented with primary amenorrhea and cyclic abdominal pain. Five patients presented with malformations in two organs . One patient had cervical and vaginal aplasia (U0C4V4), presenting with primary amenorrhea and difficulty in initiating her sexual life. Two were diagnosed with a complete bicorporeal uterus and a unilateral cervical aplasia (U3bC3V0). Two patients presented with a transverse vaginal septum and a uterine body anomaly; one had a complete bicorporeal uterus (U3bC0V3) and the other a unicorporeal uterus without a rudimentary cavity (U4bC0V3). All four of these presented with cyclic abdominal pain. Thirteen patients had a malformation in only one organ of their genital tract. Six had a unicorporeal with a rudimentary cavity uterus (U4aC0V0), complaining about cyclic abdominal pain, one with cervical aplasia (U0C4V0) with primary amenorrhea and cyclic abdominal pain, and six with a transverse vaginal septum (U0C0V3) with cyclic abdominal pain and primary amenorrhea. Five out of 27 patients with an obstructive type anomaly had findings of endometriosis in laparoscopy; the MRI performed lacked a preoperative sign. All patients included were treated surgically. The timing of surgical management of the patient depended on the presenting symptoms. The presence of abdominal pain due to obstruction was an indication for immediate treatment; in cases of vaginal aplasia combined with uterine and vaginal aplasia, surgical treatment was scheduled close to the expected initiation of sexual activity, usually between 16 and 18 years old. This also had the advantage of a more advanced development of the organs' anatomy. The basis for the design of the surgical treatment was the existing uterine body, cervical, and vaginal anatomy of each patient: Uterine body anatomy : in the presence of a functional uterine cavity obstructed by a cervical or vaginal anomaly, the options were to restore the continuity of the existing uterine body with the external genitalia or to remove the obstructed part. This depended on the type and size of the existing uterine part, the feasibility of restoring continuity, and the expected benefits from its preservation. Cervical anatomy : in cases of cervical aplasia in combination with any form of functional uterine body, the feasibility, post‐treatment functionality and expected benefits of restoring the continuity by anastomosing the obstructed uterine body part with external genitalia were examined. In cases of a normal or double cervix in combination with a vaginal obstructive anomaly, the main option was to maintain the cervices and uterine body. Vaginal anatomy: in cases of vaginal aplasia, the first step was to create a neovagina. Restoration of continuity of an obstructed uterine body and/or cervix was scheduled as a second step with anastomosis. Vaginal septa were treated by incision; the technique was dependent on their anatomical status. Uterine body anatomy : in the presence of a functional uterine cavity obstructed by a cervical or vaginal anomaly, the options were to restore the continuity of the existing uterine body with the external genitalia or to remove the obstructed part. This depended on the type and size of the existing uterine part, the feasibility of restoring continuity, and the expected benefits from its preservation. Cervical anatomy : in cases of cervical aplasia in combination with any form of functional uterine body, the feasibility, post‐treatment functionality and expected benefits of restoring the continuity by anastomosing the obstructed uterine body part with external genitalia were examined. In cases of a normal or double cervix in combination with a vaginal obstructive anomaly, the main option was to maintain the cervices and uterine body. Vaginal anatomy: in cases of vaginal aplasia, the first step was to create a neovagina. Restoration of continuity of an obstructed uterine body and/or cervix was scheduled as a second step with anastomosis. Vaginal septa were treated by incision; the technique was dependent on their anatomical status. Based on the previous rules, the following surgical treatments were applied (Table  2 ): Patients with uterine body, cervical, and vaginal aplasia (U5bC4V4, Figure  1 ); in total, 21 patients were treated. In 20 of them, a combined vaginal–laparoscopic Davydov neovagina formation was applied, whereas in one patient, laparotomy was necessary; she was a patient born prematurely with a history of anal atresia treated just after birth and two laparotomies for necrotizing enterocolitis. One patient complicated by a recto‐vaginal fistula was treated successfully by temporary ileostomy, followed by spontaneous fistula closure. Patients with uterine body aplasia and rudimentary horn with cavity, cervical and vaginal aplasia (U5aC4V4, Figure  2 ); three patients were treated. In two patients with a rudimentary cavity, after extensive preoperative counseling, neovagina formation was performed, followed by open isthmo‐neovagina anastomosis in a second surgical operation. The procedures were uneventful, with no early postoperative complications. Both patients had menstruation. In one of them, the occlusion of the anastomosis was treated again by surgical open re‐anastomosis. The preservation of the result was secured by follow‐up hysteroscopies. In the third patient, removal of the horn was decided, as it was too small. One patient with a normal uterus, cervical, and vaginal aplasia (U0C4V4; Figure  3 ); she was a patient with partial cervical aplasia and atresia. The patient was treated in two steps: a neovagina was created in the first step, followed by open isthmo‐neovagina anastomosis in the second step. The patient, complicated by a rectovaginal fistula three months after the anastomosis, was treated by low anterior bowel resection and temporary colostomy. The patient experienced her first menses 18 months later with hormone replacement therapy, and she continued normally afterward. Patients with uterine body, cervical, and vaginal aplasia (U5bC4V4, Figure  1 ); in total, 21 patients were treated. In 20 of them, a combined vaginal–laparoscopic Davydov neovagina formation was applied, whereas in one patient, laparotomy was necessary; she was a patient born prematurely with a history of anal atresia treated just after birth and two laparotomies for necrotizing enterocolitis. One patient complicated by a recto‐vaginal fistula was treated successfully by temporary ileostomy, followed by spontaneous fistula closure. Patients with uterine body aplasia and rudimentary horn with cavity, cervical and vaginal aplasia (U5aC4V4, Figure  2 ); three patients were treated. In two patients with a rudimentary cavity, after extensive preoperative counseling, neovagina formation was performed, followed by open isthmo‐neovagina anastomosis in a second surgical operation. The procedures were uneventful, with no early postoperative complications. Both patients had menstruation. In one of them, the occlusion of the anastomosis was treated again by surgical open re‐anastomosis. The preservation of the result was secured by follow‐up hysteroscopies. In the third patient, removal of the horn was decided, as it was too small. One patient with a normal uterus, cervical, and vaginal aplasia (U0C4V4; Figure  3 ); she was a patient with partial cervical aplasia and atresia. The patient was treated in two steps: a neovagina was created in the first step, followed by open isthmo‐neovagina anastomosis in the second step. The patient, complicated by a rectovaginal fistula three months after the anastomosis, was treated by low anterior bowel resection and temporary colostomy. The patient experienced her first menses 18 months later with hormone replacement therapy, and she continued normally afterward. Uterine aplasia, cervical aplasia and vaginal aplasia (U5bC4V4). Uterine aplasia with rudimentary cavity, cervical aplasia and vaginal aplasia (U5aC4V4). Normal uterus, cervical aplasia, vaginal aplasia (U0C4V4). Study population and treatment strategy: presentation according to the severity of the vaginal anomaly, followed by the cervical and the uterine body ones. Aplasia U5b Aplasia C4 Aplasia V4 1 pt: Recto‐neovaginal fistula/Temporary ileostomy Aplasia & Rudimentary cavity U5a Aplasia C4 Aplasia V4 Davydov's neovagina 2pts: Isthmo‐neovaginal anastomosis 1 pt: rudimentary horn excision 1 pt: Occlusion of anastomosis/Re‐anastomosis 1 pt: Occlusion of anastomosis/Re‐anastomosis Bicorporeal Complete U3b Double C2 Aplasia V4 Hysterectomy Normal U0 Aplasia C4 Aplasia V4 Recto‐neovaginal fistula: Low anterior resection/Anastomosis/Temporary colostomy Unicorporeal U4b Normal C0 Transverse Vaginal Septum V3 Bicorporeal Complete U3b Normal C0 Transverse Vaginal Septum V3 Normal U0 Normal C0 Transverse Septum V3 Vaginal Septum excision 1 pt: Laparoscopic posterior colpotomy approach Bicorporeal Complete U3b Double C2 Longitudinal Obstructive Vaginal Septum V2 Bicorporeal Complete U3b Unilateral aplasia C3 Normal V0 1 pt: Isthmo‐vagina anastomosis 1 pt: Hemi‐hysterectomy & unilateral salpingectomy Normal U0 Aplasia C4 Normal V0 Unicorporeal & Rudimentary Cavity U4a Normal C0 Normal V0 d One patient with a normal uterine body and vagina combined with cervical aplasia (U0C4V0, Figure  4 ) was treated by isthmo‐neovagina anastomosis. This patient needed repetitive review hysteroscopies to evaluate the outflow tract and the patency of the anastomosis. The patient experienced her first menses 18 months later, and they continued normally afterward. e Two patients with a complete bicorporeal uterus and unilateral cervical aplasia (U3bC3V0, Figure  5 ); one was treated by open isthmo‐neovagina anastomosis with successful release of the obstruction, and the other with removal of the obstructed hemi‐uterus. f One patient with a complete bicorporeal uterus, double cervix, and vaginal aplasia (U3bC2V4, Figure  6 ); the patient was initially treated by open anastomosis of the vaginal proximal vault to the external one. However, in the effort to prepare the vaginal vault during the operation, the bladder was opened, repaired by suturing, and Foley catheterization with concomitant catheterization of the anastomosis. Although the anatomy of the bladder was successfully restored, the vaginal anastomosis was obstructed, and a total hysterectomy was decided and performed three months later. g Five patients with a complete bicorporeal uterus, double cervix, and longitudinal obstructive vaginal septum (U3bC2V2, Figure  7 ); all patients were treated with incision of the vaginal obstructive septum. h Eight patients with transverse vaginal septa ; six of them with normal uterine body and cervix (U0C0V3, Figure  8 ); one with a unicorporeal uterus (U4bC0V3, Figure  9 ) and one with a complete bicorporeal uterus (U3bC0V3, Figure  10 ). In the last one, an imperforate hymen was also present. All of them were treated with incision of the transverse septa and suturing of the proximal and distal parts. In seven of them, the operation was done vaginally; in the two patients with uterine body anomaly, a simultaneous laparoscopy was performed. In the eighth patient with a thick mid‐vaginal septum, a laparoscopic opening of the posterior fornix was necessary to incise the septum and suture safely the proximal with the distal vaginal part, restoring the opening of the fornix at the end. i Six patients diagnosed with a unicorporeal uterus and rudimentary horn with hematocavity (U4aC0V0, Figure  11 ). In four cases, the rudimentary horn was on the left side with a right unicorporeal uterus, and in two cases, it was on the right side with a left unicorporeal uterus. An intraoperative evaluation regarding the development, side, communicating or not, and functional endometrium of the rudimentary horn was made. Excision in all cases was decided. The excised rudimentary horn was removed from the peritoneal cavity intact, through an enlargement of the suprapubic trocar incision. There were no postoperative complications. One patient with a normal uterine body and vagina combined with cervical aplasia (U0C4V0, Figure  4 ) was treated by isthmo‐neovagina anastomosis. This patient needed repetitive review hysteroscopies to evaluate the outflow tract and the patency of the anastomosis. The patient experienced her first menses 18 months later, and they continued normally afterward. Two patients with a complete bicorporeal uterus and unilateral cervical aplasia (U3bC3V0, Figure  5 ); one was treated by open isthmo‐neovagina anastomosis with successful release of the obstruction, and the other with removal of the obstructed hemi‐uterus. One patient with a complete bicorporeal uterus, double cervix, and vaginal aplasia (U3bC2V4, Figure  6 ); the patient was initially treated by open anastomosis of the vaginal proximal vault to the external one. However, in the effort to prepare the vaginal vault during the operation, the bladder was opened, repaired by suturing, and Foley catheterization with concomitant catheterization of the anastomosis. Although the anatomy of the bladder was successfully restored, the vaginal anastomosis was obstructed, and a total hysterectomy was decided and performed three months later. Five patients with a complete bicorporeal uterus, double cervix, and longitudinal obstructive vaginal septum (U3bC2V2, Figure  7 ); all patients were treated with incision of the vaginal obstructive septum. Eight patients with transverse vaginal septa ; six of them with normal uterine body and cervix (U0C0V3, Figure  8 ); one with a unicorporeal uterus (U4bC0V3, Figure  9 ) and one with a complete bicorporeal uterus (U3bC0V3, Figure  10 ). In the last one, an imperforate hymen was also present. All of them were treated with incision of the transverse septa and suturing of the proximal and distal parts. In seven of them, the operation was done vaginally; in the two patients with uterine body anomaly, a simultaneous laparoscopy was performed. In the eighth patient with a thick mid‐vaginal septum, a laparoscopic opening of the posterior fornix was necessary to incise the septum and suture safely the proximal with the distal vaginal part, restoring the opening of the fornix at the end. Six patients diagnosed with a unicorporeal uterus and rudimentary horn with hematocavity (U4aC0V0, Figure  11 ). In four cases, the rudimentary horn was on the left side with a right unicorporeal uterus, and in two cases, it was on the right side with a left unicorporeal uterus. An intraoperative evaluation regarding the development, side, communicating or not, and functional endometrium of the rudimentary horn was made. Excision in all cases was decided. The excised rudimentary horn was removed from the peritoneal cavity intact, through an enlargement of the suprapubic trocar incision. There were no postoperative complications. Normal uterus, cervical aplasia, normal vagina (U0C4V0). Complete bicorporeal uterus, unilateral cervical aplasia, normal vagina (U3bC3V0). Complete bicorporeal uterus, double cervix, vaginal aplasia (U3bC2V4). Complete bicorporeal uterus, double cervix, longitudinal obstructive vaginal septum (U3bC2V2). Normal uterus, normal cervix, transverse vaginal septum (U0C0V3). Unicorporeal uterus, normal cervix, transverse vaginal septum (U4bC0V3). Complete bicorporeal uterus, normal cervix, transverse vaginal septum (U3bC0V3). Unicorporeal uterus with rudimentary cavity, normal cervix, normal vagina (U4aC0V0. Cumulative success rates are presented in Table  3 . Overall, 21 patients with uterine, cervical, and vaginal aplasia were treated successfully with neovagina formation, and one successfully restored complication. In 8 patients with functional uterine cavity of any type and obstruction at the level of the vagina and/or the cervix, anastomosis for restoration of continuity, with or without neovagina, was successful in 6 out of 7 cases; in one, a hemi‐hysterectomy was decided as the primary treatment option. Pain was successfully treated in all cases. All 13 patients with vaginal septae and 6 patients with a unicorporeal uterus and rudimentary were treated successfully. Cumulative success rates per major category of anomaly types. 19/19 (2 not yet started) 7/7 (1 not yet started) 1 recto‐ vaginal fistula/restored 1 bladder complication/restored 1 occlusion of anastomosis/restored 1 failed anastomosis/hysterectomy 1 elective hemi‐hysterectomy Pain relief Menstruation The mean hospitalization duration of the 25 patients who underwent neovagina formation was 10 days. At one year follow‐up, the mean vaginal length was measured at 7.4 ± 0.8 cm. Menstruation was successfully established in the three patients that had reconstructed anatomical uterine outflow with anastomosis. In the 12 month follow up, twenty‐two patients reported satisfied sexual intercourse with a mean start after 10.9 ± 5.6 months. The mean post‐surgical FSFI score was 29.4 ± 3.6 suggesting that these patients attained nearly excellent functional outcomes. Specifically, four domains (desire, arousal, lubrication, satisfaction) achieved a score of 5, with the exceptions being orgasm and pain, which registered scores of 4.2 and 4.5, respectively. Three patients had not yet started any sexual activity due to the unavailability of a partner and were unrelated to the surgical procedure.

It is during puberty that children or adolescents might experience a variety of symptoms such as primary amenorrhea, abdominal pain mainly cyclic, and/or difficulties in establishing sexual activity. Those symptoms are frequently the result of severe vaginal and/or cervical anomalies, with or without the presence of any type of functional uterine cavity. As ovaries are present in these patients due to their different embryological origin, the initiation of their cyclic hormonal activity is followed by the previously mentioned symptoms; obstructive type defects block the outflow of menstrual blood, that can lead to the formation of hematocolpos and/or hematometra, resulting in cyclic pelvic pain alongside primary amenorrhea. Patients usually experience increasingly severe abdominal pain over time, and eventually, the severity or frequency prompts a clinical evaluation. 9 , 10 , 11 Patients with vaginal and uterine aplasia, despite their normal female phenotype, are presented with primary amenorrhea and an inability to establish a normal sexual life. The initial challenge to avoid inappropriate management is correct diagnosis 10 ; most of them require surgical treatment and the strategy of their treatment is based on the detailed and accurate mapping of the anatomical status of the female genital tract. 9 , 12 , 13 , 14 The use of the ESHRE/ESGE classification, 2 with the independent classification of uterine body, cervical and vaginal anomalies, is extremely useful for their approach; all our patients categorized successfully with the use of ESHRE/ESGE classification proving its comprehensiveness in those demanding complex cases. Gynecological examination is crucial for estimation of vaginal anatomy, for example, vaginal aplasia with or without a vaginal vault. Imaging with 3D US, either transabdominal or transrectal, followed by MRI for the evaluation of the uterine body and cervical anatomy is considered as primary diagnostic method having absolute indication for these patients. 3 , 15 Endoscopic reproductive surgeons who possess expertise in managing complex female genital anomalies should ensure the provision of this extensive diagnostic workup. 12 , 13 This evaluation should take place in specialized centers following a meticulous non‐invasive assessment. 15 The primary goal of managing complex congenital female genital tract malformations is to relieve the distressing symptoms experienced by individuals affected by these conditions. Their therapeutic approach should be customized based on the primary symptoms, aiming to enhance the quality of life, resolve health‐related problems, while also protecting her reproductive capabilities. 7 , 9 , 16 , 17 , 18 Thus, the priorities of their management mainly include: (1) establishment of normal sexual function where applicable depending on the patient's preferences, (2) relief of the obstructive symptoms, and (3) preservation of future fertility potential. The way to achieve these goals in our practice is: (1) the creation of neovagina if vaginal aplasia is present, (2) the restoration of utero‐vaginal or utero‐neovaginal continuity if feasible, and (3) the removal of the obstructed uterine part in cases that its preservation is not considered necessary (e.g., rudimentary horn with a cavity in cases of uterine aplasia or unicorporeal uterus) or in cases of failed anastomosis. 7 , 9 , 19 , 20 , 21 , 22 , 23 Thus, patients with vaginal aplasia were treated with a combined vaginal‐laparoscopic Davydov neovagina creation. 24 , 25 , 26 In the presence of contraindications for the laparoscopic route, the abdominal part might be performed by laparotomy, as in one of our patients due to previous surgical history. Current evidence indicates that laparoscopic Davydov and laparoscopic Vecchietti neo‐vaginoplasty achieve comparable anatomical and functional outcomes in women with MRKH syndrome, with no functional superiority of one technique over the other. A recent systematic review and meta‐analysis including more than 1500 patients showed that the mean neovaginal length at 12 months was similar between the Davydov and Vecchietti (8.3 cm, 95% CI 8.1–8.6 cm vs. 8.7 cm, 95% CI 7.2–10.3) techniques, and both approaches resulted in comparable mean FSFI scores (28.9, 95% CI 26.8–31.1 vs. 27.5, 95% CI 25.0–30.1) above the threshold for sexual dysfunction, indicating satisfactory sexual function in most patients. 27 In our population, the mean neovaginal length at 12 months was 7.4 ± 0.8 cm and the mean FSFI score 29.4 ± 3.6, indicating satisfactory anatomical and functional restoration comparable with that reported in the systematic review findings. 26 , 27 Most patients resumed sexual activity within the first postoperative year, while menstrual function was successfully established in patients with preserved or reconstructed uterine outflow. These findings highlight that, beyond anatomical correction, functional outcomes such as sexual activity and menstruation are achievable and should be considered key indicators of treatment success. Importantly, vaginal length alone should not be interpreted as a marker of surgical success. Functional outcomes, and particularly the ability to engage in comfortable penetrative intercourse and patient‐reported sexual satisfaction, are more clinically meaningful. 28 , 29 , 30 , 31 Functional success is influenced by multiple factors beyond vaginal length, including postoperative dilation compliance, sexual activity, psychological support, and partner involvement. Although the Vecchietti procedure is associated with shorter operative time and hospital stay, the Davydov technique offers specific advantages in complex anatomical situations, such as absence of a vaginal dimple, prior pelvic surgery, previous failed neo‐vaginaplasty or associated congenital anomalies 27 ; in our population there were three cases of failed perineo‐vaginoplasty and five cases with associated anomalies. Because the Davydov procedure is performed under direct laparoscopic vision without prolonged traction, it may reduce anatomical risks in selected patients with distorted pelvic anatomy or concomitant urinary or anorectal malformations. 27 Finally, while nonsurgical vaginal dilation remains the recommended initial approach for vaginal agenesis, surgical vaginoplasty, including both Davydov and Vecchietti techniques, continues to play an essential role for patients in whom dilation fails or is not feasible. 28 , 32 The choice of surgical technique should therefore be individualized, based on anatomy, patient preference, surgeon expertise, and long‐term reproductive considerations, rather than expectations of superior sexual or anatomical outcomes from a specific procedure. 27 In cases with vaginal aplasia and normal or deformed uterine cavity, restoration of continuity is the primary option after neovagina formation; that was done successfully in one case whereas in another due to failed anastomosis hysterectomy was necessary to relieve obstruction proving that preservation of the uterine part is not always feasible. Restoration of continuity by anastomosis is also the primary option in cases of cervical aplasia with a normal vagina. 7 , 9 , 19 In patients with vaginal and uterine aplasia with a rudimentary cavity, the decision over keeping the horn attempting isthmo‐neovagina anastomosis is difficult; before deciding over maintenance or removal, careful preoperative assessment regarding the size and the structure of the horn's cavity in relation to the wishes of the patient and the future family planning is performed. 15 , 16 In two out of three cases with horns of satisfactory size, this was decided following the strong request of the patients; one of them who was complicated with obstruction of the anastomosis asked again to resolve the obstruction surgically, which was done successfully, proving her strong desire to keep the horn. However, the impact of having menstruation afterward on their psychological status was obvious. The patients were advised to avoid conception due to the potential inability of the cavity to carry pregnancy, together with a possible cervical insufficiency. 15 In the third patient, excision of the rudimentary horn was decided because it was too small, and her main request was if its maintenance could allow a pregnancy. Bowel and bladder complications might happen during neovagina creation. Recto‐vaginal fistulas might result from direct trauma of the bowel during preparing the space between the bladder and bowel or, in a second phase, as a result of rupture of the posterior neovagina wall during intercourse. Transient ileostomy or low anterior colectomy with end‐to‐end anastomosis and transient colostomy are treatment options. Comparable complications documented in the literature were successfully repaired without subsequent postoperative comorbidity. 33 Suturing and Foley catheterization might resolve bladder complications. Patients with vaginal longitudinal obstructing septa were treated with septum incision, thus achieving relief of their obstruction; usually they have complete bicorporeal uteri with double cervix not needing any other intervention. Management of patients with transverse septa might differ from one to another depending on their thickness and placement within the vagina. Embryologically vaginal septa might result from a failed fusion between the sinovaginal bulb and the vaginal part coming from the Mullerian ducts or the result of partial vaginal aplasia; in the first case, the result is a rather thin lower vaginal septum whereas in the second case the septa are thicker covering the middle or upper part of the vagina. Thus, patients with thinner middle or lower transverse vaginal septa were usually treated with septum incision vaginally and restoration of vaginal anatomy with cyclic running suturing of the vaginal walls; ultrasound guidance is necessary to avoid complications for the bladder or rectum. In cases of broad mid or upper vaginal septa, incision through the vaginal route is not always feasible and rather risky; laparoscopic opening of the posterior vaginal fornix and laparoscopic incision of the septum is a safer alternative. The operation is completed with laparoscopic or vaginal cyclic running or continuous suturing of the distal and proximal vaginal parts. Dealing with a congenital malformation poses distinctive challenges for women, influencing their health, fertility potential as well as their emotional and psychological wellbeing. 34 Patients with FGA and especially MRKH are associated with psychological symptoms, impaired quality of life, and especially with anxiety, depression, social insecurity, lower self‐esteem, and poor genital image compared with women of a similar age without the condition. They may face challenges in the management of intimacy and in revealing personal information to partners. Something also arose in our cohort, especially for those patients who delayed initiating sexual activity after surgical repair. 35 , 36 The involvement of a multidisciplinary team is essential for the comprehensive pre‐operative management, surgical approach, and follow‐up, ensuring an appropriate care strategy for these patients. Although a validated questionnaire assessing emotional state and quality of life was not included in the follow‐up assessment of our patients, psychological support was provided before and after the operation in all of them. Obstructive anomalies of the female genital tract are a recognized risk factor for pelvic endometriosis, with a higher reported prevalence of the disease in patients with such obstructions compared to non‐obstructive cases. 37 , 38 The accumulation of blood within the pelvic cavity due to retrograde menstruation can prompt the development of endometriosis and the formation of adhesions, potentially causing distortion of pelvic anatomy. That situation can increase pelvic pain, which may worsen during menstruation or sexual intercourse. Studies suggest that the incidence of endometriosis is highest in girls with cervical aplasia. In our cohort, five cases underwent intraoperative evaluation and treatment for endometriosis lesions; the MRI performed lacked a preoperative sign. Surgical correction of obstruction reduces the incidence of endometriosis, yet the risk remains substantial for individuals presenting with FGA. The main strength of the study is that it is one of the largest single‐center cohorts, which presents the treatment strategy and the surgical management of a group of patients with congenital anomalies presenting mainly in adolescence with either primary amenorrhea or pelvic pain. Despite the retrospective analysis of the data, the patients were followed prospectively under standard treatment protocols. One possible limitation of our study is its reliance on retrospective data collection. It is important to note that the limited sample size in this study may restrict the applicability of the results to a broader population. The results may not be representative of the overall outcomes for patients with female congenital genital tract malformations undergoing similar surgical procedures. The restricted number of participants might impact the statistical power of the study. Another limitation of this study is the absence of a validated questionnaire assessing emotional state and quality of life. Therefore, the potential psychological impact and broader effects on participants' well‐being could not be systematically evaluated. Future studies including validated instruments would allow a more comprehensive assessment of these aspects.’

Correct diagnosis of female genital tract anomalies with a detailed and accurate mapping of their anatomical status based on the ESHRE/ESGE classification is crucial for their management. Surgical treatment of complex anomalies presenting with primary amenorrhea and/or pain is based on the combined anatomical status of the uterus, cervix, and vagina. Primary goals of their surgical treatment should be: (1) enabling satisfactory sexual function by creating a functional neovagina when relevant to the patient's preferences, (2) restoring genital tract patency and continuity where possible, (3) removing, electively or after failed anastomosis, the obstructive part causing symptomatic distress. Favorable secondary outcomes, including satisfactory sexual function and restoration of menstruation where applicable, further support the effectiveness of the proposed management strategy.

Female genital tract congenital anomalies can affect various parts of the female reproductive system, and their presence might impact a woman's reproductive health and, in some of their variants, the individual's overall health and quality of life. Congenital uterine anomalies are found in approximately 5.5% of the general population, with their prevalence being higher among high‐risk groups; in infertile women, the prevalence is around 8.0%, while in those with recurrent pregnancy losses, it is approximately 13.3%. When both conditions are present, their prevalence rises to 24.5%. 1 While “arcuate” uterus was reported as the most prevalent anomaly in the general population, high‐risk groups more commonly have more severe forms of anatomical deformation like septate, ESHRE/ESGE bicorporeal (former AFS bicornuate and didelphys), and ESHRE/ESGE unicorporeal uterus (former AFS unicornuate). 2 , 3 , 4 Female genital anomalies (FGA) are the result of embryological defects in the formation, canalization, fusion, and/or absorption of the midline septum of the Mullerian or paramesonephric ducts. Although, usually, the most common types are the result of one embryological defect, certain types of female genital malformations can result from a combination of defects occurring across multiple embryological stages. The complexity is further compounded by the presence of distinct embryological defects affecting distinct parts of the female genital system. 5 The gynecologist should be aware of this wide range of anatomical variations and combinations, especially in more complex cases involving multiple organs with embryological defects. 6 , 7 , 8 Some types of congenital female genital anomalies may manifest or become symptomatic during adolescence, coinciding with the hormonal and anatomical changes that accompany the onset of puberty. That subgroup, exhibiting symptoms such as primary amenorrhea, cyclic abdominal/pelvic pain, or challenges during the initiation of sexual activity, is frequently encountered by outpatient clinicians, prompting affected individuals to seek medical care. Importantly, the treatment approach varies based on the clinical presentation and potential impact on the reproductive potential of women. These anomalies are usually the result of obstructive types of cervical and/or vaginal malformations, in combination with any type of functional uterine cavity or uterine aplasia; according to ESHRE/ESGE classification, these cases are categorized as unilateral cervical aplasia (C3) or cervical aplasia (C4), and longitudinal obstructing (V2), transverse (V3) vaginal septum or vaginal aplasia (V4), which can be presented independently or together with any type of uterine cavity (U0–U4) or uterine aplasia (U5). In more detail, cervical aplasia types (ESHRE/ESGE C3 or C4) and/or obstructive types of vaginal anomalies (ESHRE/ESGE V2 and V3) may lead to primary amenorrhea and/or cyclic abdominal or pelvic pain. Vaginal aplasia and obstructive transverse septum (ESHRE/ESGE V3 or V4) are presented with primary amenorrhea, inability to establish normal sexual function and/or abdominal discomfort. 8 , 9 The management of female genital anomalies hinges on the specific nature of the anomaly and its clinical presentations. 2 , 3 This study aims to present the surgical management of the subgroup of congenital genital tract anomalies presented mainly in adolescents with primary amenorrhea, cyclic abdominal or pelvic pain, and/or sexual dysfunction, and to discuss their treatment algorithm.

The authors declare no conflicts of interest.

This is a retrospective cohort analysis of prospectively followed adolescents and/or young women with congenital female tract anomalies who were evaluated at the Pediatric and Adolescent Gynecology outpatient Clinic of the 1st Department of Obstetrics and Gynecology of Aristotle University and treated between January 2007 and June 2025. All patients were included consecutively in the study following a standard diagnostic and treatment protocol. The areas of focus included primary presenting symptoms, diagnostic workup, genital reconstructive surgery, and follow up of the patients. Inclusion criteria were patients presenting with primary amenorrhea, cyclical abdominal/pelvic pain, and/or challenges in initiating sexual intercourse and treated surgically for their anomaly. Exclusion criteria were patients selected for and undergoing conservative treatment (e.g., patients with MRKH syndrome directed to dilatation). Forty‐eight patients were enrolled in the study. The hospital's electronic patient records were used for the demographics, the clinical, the operative, and the post‐operative details. Typically, ultrasound (transabdominal, transperineal, transrectal, or transvaginal where applicable) was performed to confirm clinical findings, and the final diagnosis was substantiated through magnetic resonance imaging. Hormone profile screening was given to all patients, and karyotype to all patients with uterine, cervical, and vaginal aplasia. The recommended surgical treatment plan for each patient's malformation depended on the specific type of anomaly and its level of complexity, based on a thorough understanding of the embryological origin of the anomaly, whereas the symptoms experienced by the patient played a major role in the time/age of its application. The treatment planning considered the patient's prospective reproductive options. The primary outcome measures included the feasibility and the efficacy of the specific surgical procedures undertaken to restore presenting symptoms, perioperative, and postoperative complications. Secondary outcomes , where applicable, included postoperative menstrual function, vaginal length, and sexual function, as well as resumption of intercourse. Female sexual function was assessed using the Female Sexual Function Index (FSFI) questionnaire. The follow up was planned for two weeks after surgery to monitor the patient's recovery and overall well‐being, and three months to see the anatomical result of the surgical treatment. Two subsequent follow‐up visits every six months were planned for close monitoring of the patient's progress and any potential complications. The focus, where applicable, was on assessing menses, pain relief, return to daily activities, and sexual activity to ensure they recover well and adapt to any changes. Afterwards, patients were referred for their general gynecological screening. The data were stored and analyzed using Microsoft Excel. No comparative statistical testing was performed due to the descriptive nature of the cohort.