[Concomitant extragenital malformations of female reproductive tract anomalies: analysis of 444 cases in Peking Union Medical College Hospital].

Objective: To analyze the incidence and clinical phenotype of the concomitant extragenital malformations in the patients with female reproductive tract anomalies. Methods: A retrospective study was conducted using clinical data of hospitalized patients diagnosed with uterine, cervical, or vaginal malformations from January 2003 to December 2022 in Peking Union Medical College Hospital. The malformations were classified according to American Society for Reproductive Medicine müllerian anomalies classification 2021, and in each type, the incidence and specific manifestations of concomitant extragnital malformations were analyzed. Results: A total of 444 patients were included. The overall incidence of concomitant extragenital malformations was 43.5% (193/444), including urinary system, skeletal system, and other system malformations. Renal malformations on the obstructed side were present in all patients with oblique vaginal septum syndrome (100.0%, 78/78). The total incidence of concomitant extragnital malformations was as high as 8/11 in uterus didelphys, 43.5% (10/23) in unicornuate uterus, 33.6% (79/235) in Mayer-Rokitansky-Küster-Hauser syndrome, 18.8% (6/32) in septate uterus and 18.5% (12/65) in cervical agenesis. Urinary system malformations (30.6%, 136/444) and skeletal system malformations (13.5%, 60/444) were the most common concomitant malformations in all types, in which, unilateral renal agenesis and scoliosis were the most common. Conclusions: Urinary and skeletal system malformations are important features of female reproductive tract anomalies. Urologic ultrasonography and spinal roentgenogram are recommended for all patients with female reproductive tract anomalies.

[Adolescent female reproductive system dysplasia: a clinical study of 356 cases].

Objective: To explore the age of onset and consultation, the main clinical manifestations, common types of combined malformations, the relationship of endometriosis, surgical prognosis and different types of proportion of adolescent female reproductive system dysplasia. Methods: The medical records of 356 patients (aged 10-19) with female reproductive system dysplasia in Women's Hospital, School of Medicine, Zhejiang University from January 2003 to August 2018 were collected and retrospectively analyzed. Results: (1) Among the 356 adolescent dysplasia patients, uterine dysplasia (23.6%, 84/356), oblique vaginal septum syndrome (OVSS; 22.5%, 80/356) and vaginal dysplasia (21.6%, 77/356) were the most frequent ones, followed by multi-sectional dysplasia (16.0%, 57/356), other types of developmental abnormalities like external genitaliaand urogenital fistula (13.5%, 48/356) and Mayer-Rokitansky-Küster-Hauser syndrome (MRKH syndrome; 2.8%, 10/356). (2) There were significant differences between the median age of onset and the age of consultation of patients with OVSS and other types of abnormalities except hymen atresia (both P<0.05). In contrast, there were no significant differences between the age of onset and the age of consultation of the patients of uterine dysplasia, vaginal dysplasia, hymen atresia, MRKH syndrome and multi-sectional dysplasia (all P>0.05). (3) The clinical manifestations were lack of specificity, and mainly abnormal finding was lower abdominal pain. (4) After admission, the majority of patients underwent comprehensive cardiopulmonary examination (71.3%, 254/356) and urinary system examination (63.5%, 226/356). Only 18.3% (65/356) of patients had completed abdominal organ examination, and 5.9% (21/356) skeletal system examination. About other systemic malformations, urological malformations were the most common (27.5%, 98/356), followed by anorectal malformation (0.6%, 2/356), heart malformations (0.3%, 1/356), and spinal malformations (0.3%, 1/356). 46.4% (84/181) of the surgical patients were diagnosed with combined endometriosis. Patients with obstructive genital tract malformations were more likely to combine with endometriosis than non-obstructive ones [50.3% (74/147) vs 29.4% (10/34); P<0.05]. However, there was no significant difference between the severity of endometriosis of those two kinds (P>0.05). (5) Totally 308 patients were followed up successfully with a median of 25.0 years old, and 20 cases were treated again; 12.0% (37/308) of them were suffering from menstrual disorder and 33.1% (102/308) of them with dysmenorrhea. Totally 130 patients had sexually active reported no sexual problems. Conclusions: Uterine dysplasia, OVSS and vaginal dysplasia are the most common syndromes in adolescent female reproductive system dysplasia along with frequent cases of coexisting urinary malformations and increasing risks of endometriosis. Meanwhile, the lack of specificity of clinical manifestations might delay the timely diagnosis and treatment after the onset of symptoms. Nonetheless, most patients could achieve good surgical outcomes.

Tabique vaginal transverso: revisión bibliográfica a propósito de un caso / Transverse vaginal septum: case report and literature review

El tabique vaginal transverso es una malformación genital femenina muy infrecuente con una etiología desconocida y un manejo clínico aún por discernir. Presentamos el caso de una mujer de 17 años que presentaba estrechez del introito vaginal asociada a una intensa dismenorrea, con el diagnóstico final de esta entidad tras una exploración bajo anestesia. El conocimiento de esta anomalía junto con sus hallazgos clínicos y posibles entidades extragenitales asociadas permiten realizar un apropiado diagnóstico de sospecha y una correcta clasificación, lo que conlleva un manejo terapéutico más óptimo.(AU)

Transverse vaginal septum is a rare female genital malformation of unknown aetiology, and for which there is still no clear clinical management. The case is presented of a 17-year-old woman who had a narrow vaginal introitus associated with intense dysmenorrhoea. She was diagnosed with this disorder after an examination under anaesthesia. The knowledge of this anomaly, as well as its symptomatology and associated extra-genital pathologies, can lead to an appropriate suspected diagnosis and correct classification, and to a more optimal therapeutic management.(AU)

Himen imperforado con hematocolpos. A propósito de un caso / Imperforate hymen with hematocolpos. Apropos of a case

RESUMEN Los defectos en la canalización de la membrana himeneal causan obstrucción del tracto genital femenino. Como consecuencia aparece hematocolpos, resultante de la acumulación y retención de secreciones cervicovaginales -sangre en útero y vagina-, ante la imposibilidad de su evacuación por la presencia de un himen imperforado. Clínicamente aparece masa abdominal, asociada con malformaciones vaginales congénitas. Se presentó el caso de una adolescente de 13 años que refirió retención urinaria, disuria, dolor y masa en hipogastrio, y ausencia de la menarquía a pesar de un desarrollo puberal en estadio Tanner III. Al realizar ultrasonido se constató sangre en el útero, debido a imperforación himeneal que se resolvió mediante himenotomía. La patología de himen imperforado con hematocolpos debe estar entre los posibles planteamientos sindrómicos de aquellas pacientes con cuadros similares; puede diagnosticarse en la Atención Primaria de Salud a partir de una detallada anamnesis y exploración física, aunque la comprobación requiere ecografía (AU).

ABSTRACT The defects in the channeling of the himeneal membrane cause obstruction in the female genital tract. As consequence hematocolpos appears, resulting from the accumulation and retention of cervicovaginal secretions -blood in the uterus and vagina-, due to the impossibility of its evacuation because of the presence of an imperforate hymen. Clinically, abdominal mass appears associated to congenital vaginal malformations. We presented the case of teenager aged 13 years that referred urine retention, dysuria, pain, had a mass in the hypogastrium, and absence of menarche in spite of a Tanner III pubertal development. An ultrasound showed blood in the uterus due to hymeneal imperforation solved through hymenotomy. The pathology of imperforate hymen with hematocolpos should be among the possible syndrome considerations in those patients with the same characteristics; it can be diagnosed in the primary health care from anamnesis and physical exploration, although the verification requires an ultrasound (AU).

Urinary continence after high urogenital sinus repair conducted with posterior prone approach: electromyography-uroflowmetric assessment.

PURPOSE: We aimed to present the results of urinary continence assessment objectively with electromyography (EMG)-uroflowmetry after high urogenital sinus (HUGS) repair with posterior prone approach without division of rectum. METHODS: The records of patients who underwent HUGS repair via posterior prone approach between January 2005 and July 2018 were reviewed retrospectively. Incontinence, dysuria, hesitation, and straining during urination were evaluated during the clinical follow-up. Dysfunctional voiding scoring system was used as a questionnaire. Patients were re-evaluated with EMG-uroflowmetry in terms of voiding volume and pattern, voiding time, maximum flow rate, average flow rate, maximum flow time, and post-voiding residual volume. RESULTS: Seven patients with HUGS were treated with a posterior prone approach. The median age of the patients was 18 months (8-21 months). The median UGS length was 4.4 cm (3.6-5.5 cm), urethral length was 1.1 cm (1.0-1.5 cm), and vaginal length was 4.9 cm (4.1-5.1 cm). No urination or defecation problems were described by the patients or their parents. When the results of the dysfunctional voiding scoring systems questionnaire were analyzed, results scored 7 (range 5-8). EMG-uroflowmetric test graphics of the patients showed normal flow curves without plateau, intermittency or irregularity. Pelvic EMG assessment was normal in all patients. CONCLUSION: EMG-uroflowmetry has shown objectively that urinary continence and normal voiding pattern are preserved after HUGS repair with posterior prone approach without division of rectum.

Functional similarity between TGF-beta type 2 and type 1 receptors in the female reproductive tract.

Transforming growth factor ß (TGFß) signaling plays critical roles in reproductive development and function. TGFß ligands signal through the TGFß receptor type 2 (TGFBR2)/TGFBR1 complex. As TGFBR2 and TGFBR1 form a signaling complex upon ligand stimulation, they are expected to be equally important for propagating TGFß signaling that elicits cellular responses. However, several genetic studies challenge this concept and indicate that disruption of TGFBR2 or TGFBR1 may lead to contrasting phenotypic outcomes. We have shown that conditional deletion of Tgfbr1 using anti-Mullerian hormone receptor type 2 (Amhr2)-Cre causes oviductal and myometrial defects. To determine the functional requirement of TGFBR2 in the female reproductive tract and the potential phenotypic divergence/similarity resulting from conditional ablation of either receptor, we generated mice harboring Tgfbr2 deletion using the same Cre driver that was previously employed to target Tgfbr1. Herein, we found that conditional deletion of Tgfbr2 led to a similar phenotype to that of Tgfbr1 deletion in the female reproductive tract. Furthermore, genetic removal of Tgfbr1 in the Tgfbr2-deleted uterus had minimal impact on the phenotype of Tgfbr2 conditional knockout mice. In summary, our results reveal the functional similarity between TGFBR2 and TGFBR1 in maintaining the structural integrity of the female reproductive tract.

Un pequeño paso para el cirujano, un gran salto para la cirugía / A small step for the surgeon, a big jump for the surgery

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Systematization for female genital anatomic variations.

INTRODUCTION: Congenital variations of the reproductive system arise during embryonal organogenesis, although their clinical manifestations present later in adolescence or during reproductive years due to functional disorders such as abnormal menstruation, sexual dysfunction, infertility, and pregnancy loss. Surgical treatment of congenital variations is performed according to variant anatomy and functional disorders. However, many congenital anatomic variations are difficult to categorize based on current classification systems. The aim of this study is to distinguish female genital anatomic variations for appropriate surgical treatment based on a clinical analysis of uterovaginal malformations and disorders of sex development. The deviant anatomy defined as variations, which has been used in the manuscript instead of anomalies. MATERIALS AND METHODS: A retrospective review was conducted of 718 cases of uterovaginal malformation and 144 cases with disorders of sex development. Physical variations were assessed by ultrasound, magnetic resonance imaging, and laparoscopy. Genetic studies were conducted for individuals with disorders of sex development. Classification of variants was determined by physical findings, genetic findings, and clinical presentations. RESULTS: A unified systematization for female genital anatomic variations was proposed, based on the genome (karyotype), gonadal morphology, internal and external genital anatomy. The internal anatomy was classified to uterovaginal variations, which have distinguished to 11 basic types and 24 variants, according to morphologic patterns. Surgical treatments are proposed based on these variants. CONCLUSION: These new classifications provide a framework for clinical management and appropriate surgical treatment of female genital anatomic variants, with the aim of improving reproductive outcomes.

Ontogeny of estrogen receptors in human male and female fetal reproductive tracts.

This paper reviews and provides new observations on the ontogeny of estrogen receptor alpha (ESR1) and estrogen receptor beta (ESR2) in developing human male and female internal and external genitalia. Included in this study are observations on the human fetal uterine tube, the uterotubal junction, uterus, cervix, vagina, penis and clitoris. We also summarize and report on the ontogeny of estrogen receptors in the human fetal prostate, prostatic urethra and epididymis. The ontogeny of ESR1 and ESR2, which spans from 8 to 21 weeks correlates well with the known "window of susceptibility" (7-15 weeks) for diethylstilbestrol (DES)-induced malformations of the human female reproductive tract as determined through examination of DES daughters exposed in utero to this potent estrogen. Our fairly complete mapping of the ontogeny of ESR1 and ESR2 in developing human male and female internal and external genitalia provides a mechanistic framework for further investigation of the role of estrogen in normal development and of abnormalities elicited by exogenous estrogens.

Clinical Characteristics and Postoperative Symptoms of 85 Adolescents with Endometriosis.

STUDY OBJECTIVE: Endometriosis is the most common cause of secondary dysmenorrhea among adolescents. Data on postoperative symptoms of the disease in adolescents are limited. In this study we aimed to describe the clinical characteristics and postoperative symptoms of adolescent endometriosis in our center. DESIGN: Retrospective cohort study. SETTING: Tertiary care institution. PARTICIPANTS: Eighty-five adolescents with surgically confirmed endometriosis, age younger than 19 years, were included. INTERVENTIONS: None. MAIN OUTCOME MEASURES: Clinical characteristics including demographic factors, pelvic symptoms, and changes of pelvic pain after surgery. RESULTS: Of 11,236 patients with endometriosis who received surgical treatment between January 2008 and January 2018 in our department, 85 adolescents (85/11,236; 0.76%) were included. The mean age at the time of surgery was 16.3 (±2.4) years and pelvic pain was the main symptoms which occurred in 73/85 (85.9%). Forty-four of the 85 patients (51.8%) had associated genital malformations. The patients with genital malformations tended to present with a younger age at the time of surgery (15.1 ± 2.4 vs 17.6 ± 1.7 years; P < .001) and a shorter duration of symptoms to time of surgery (1.5 ± 1.3 vs 2.3 ± 2.1 years; P = .033). The median follow-up time was 56 months (range, 24-140 months) after surgery, and the pelvic pain had disappeared in 41.7% of patients, improved in 38.3% of patients, and had no change or worsened in 20.0% patients. CONCLUSION: Pelvic pain was the main symptom in adolescents with endometriosis and was greatly improved after surgery. It should also be noted that genital malformation might be an important factor in younger adolescents with endometriosis.

Uterovaginal Anomalies: A Guide for the Generalist Obstetrician-Gynecologist.

Congenital gynecologic anomalies result from interruption of embryologic development of the female reproductive tract. The anomalies may be hymenal, vaginal, cervical, or uterine. The impact of these anomalies is variable: some are asymptomatic, incidental findings that require no intervention, others require simple surgical management, while some complex anomalies may require a multidisciplinary approach with extensive surgical expertise for optimal outcomes. Uterovaginal anomalies may occur in isolation or in association with other malformations, such as renal anomalies. The origin, presentation, evaluation and treatment of these conditions are reviewed here.

Transformation of the female genitalia in congenital adrenal hyperplasia: MRI study.

PURPOSE: In this report, we aim to define the different degrees of structural abnormality affecting the female genitalia in cases of CAH by using the multiplanar capabilities and high soft tissue resolution of MRI. PATIENTS AND METHODS: The study included cases of CAH who were referred to our pediatric surgical facility for genital reconstruction during the period 2016 through 2019. We studied the pelvic MRI anatomy in cases of CAH while referring to clinical and operative findings. To set up a grading scale for the degree of virilization in cases of CAH, we included another two control groups of normal boys and girls representing the two ends of the spectrum. RESULTS: The study included 23 cases of CAH who underwent preoperative pelvic MRI examination. All cases had normal chromosomal analysis (46 XX). Their age ranged from 1 to 156 months at time of MRI examination (mean 42.4; median 25). The level of the lower end of the vagina was identified in midsagittal T2WI and confirmed in sequential axial cuts. Based on the level of the lower end of the vagina in relation to the pubic symphysis, we classified cases of CAH into either low or high types. Moreover, we could observe a correlation between the degree of vaginal descent and structural transformation of erectile tissue between both genders. CONCLUSION: MRI can have an important role in the evaluation of cases of CAH by displaying the severity of internal anomaly which is crucial for proper preoperative counseling. TYPE OF STUDY: Case control study. LEVEL OF EVIDENCE: Level III.

A Neurofibromatosis Noonan Syndrome Patient Presenting with Abnormal External Genitalia

Neurofibromatosis Noonan syndrome (NFNS) is a rare RASopathy syndrome, resulting from NF1 gene mutations. NFNS is characterized by phenotypic features of both neurofibromatosis type 1 (NF1) and Noonan syndrome. Plexiform neurofibromas (PNFs) are an unusual finding in NFNS. A seven year-old girl with typical clinical features of NF1 was referred to our clinic due to short stature and abnormal genital appearance. Due to dysmorphic features, a clinical diagnosis of NFNS was considered in the patient and, following molecular analysis, revealed a novel heterozygous c.3052_3056delTTAGT (p.L1018X) variant in the NF1 gene. Although evaluation for genital virilization, including karyotype and hormonal studies were normal, imaging studies revealed a diffuse genital PNF. Although PNFs are seen rarely in NFNS, this should be considered in the differential diagnosis of genital virilization in these patients to prevent unnecessary testing.

Advanced Imaging in Female Infertility.

PURPOSE OF REVIEW: This review highlights the role of imaging in the diagnosis and management of reproductive disorders. The additional information that imaging studies can contribute to reproductive medicine is emphasized, including the role of pelvic ultrasonography (US, including sonohysterography and contrast-enhanced hysterosalpingosonography), hysterosalpingography (HSG), and magnetic resonance imaging (MRI) of the female reproductive tract. In addition, the implications of congenital causes of infertility on the urinary tract in females are reviewed. While the evaluation of infertility in women is initially focused on the assessment of ovulation via serum hormone levels, imaging plays a role in evaluating other causes of infertility. Recent research in this field focuses on the establishment of a comprehensive single imaging study for the assessment of female reproductive disorders. Two proposed methods are MR hysterosalpingography and Fertiliscan, a combination of high-quality 3D ultrasound and assessment of tubal patency with hysterosalpingo-foam-sonography, though more research is needed to determine the risks and benefits of each method, as well as their reliability.

Comparative effectiveness of imaging modalities for preoperative assessment of anorectal malformation in the pediatric population.

OBJECTIVE: The aim of this study was to compare the accuracy of MRI, colostography/fistulography, and X-ray imaging modalities for preoperative diagnosis of anorectal malformations (ARMs) in pediatric patients. METHODS: This retrospective analysis included a total of 84 pediatric patients with ARMs. Preoperative imaging findings were assessed by 2 radiologists and compared to surgical findings. RESULTS: MRI identified anomalies of the spine in 25 of 84 patients (29.8%), anomalies of the genital system in 7 of 84 patients (8.3%), anomalies of the urinary system in 22 of 84 patients (26.2%), and underdeveloped sphincter muscle complex in 34 of 84 patients (40.5%). In the 44 subjects receiving both MRI and X-ray, MRI was more sensitive in detecting anomalies of spine (18/44 vs. 8/44; P = 0.002), and both correctly identified the distal end of the rectum in 77.3% (34/44) of the cases. In the 24 subjects receiving both MRI and colostography/fistulography, MRI was more accurate in identifying Pena's classification (22/24 vs. 15/24; P = 0.039). Distal end of the rectum was correctly identified in 75.0% (18/24) and 58.3% (14/24) of the cases (P = 0.125). CONCLUSIONS: MRI could clearly reveal fistula anatomy and associated anomalies of ARMs and should be routinely used for preoperative evaluation of ARMs. TYPE OF STUDY: Study of diagnostic test. LEVEL OF EVIDENCE: Level II.

Reproductive surgery for müllerian anomalies: a review of progress in the last decade.

Disorders of development, fusion, or resorption of paired müllerian ducts and urogenital sinus may cause various congenital malformations of the corpus uteri, cervix, vagina, and fallopian tubes. Classification systems have been developed to better characterize these anomalies, and each has advantages and disadvantages. Clinical correlation of classification of anomalies with pre- and postsurgical outcomes is needed to better direct treatment. Methods to evaluate these anomalies are primarily radiologic studies, with diagnostic surgery rarely used. Treatment of müllerian anomalies used to focus on relief of symptoms. Now, as diagnostic and surgical options have expanded, preservation or improvement of reproductive potential is a primary goal. As a consequence, controversies in surgical management have also developed. Future directions in this field include better-quality studies with the use of consistent diagnostic criteria to evaluate impacts of treatment on clinical outcomes.