Mowat-Wilson syndrome with Hirschsprung′s disease and vaginal atresia: case report and literature review / 中华实用儿科临床杂志

Clinical phenotypes and gene characteristics of a patient diagnosed with Mowat-Wilson syndrome (MWS) with Hirschsprung′s disease (HSCR) and vaginal atresia in the Department of Neonatal Surgery, Beijing Children′s Hospital, Capital Medical University in March 2021 were analyzed retrospectively.The eight-month-old girl was admitted to the hospital with symptoms of constipation for nine days and abdominal distension for two days.Lower digestive tract radiography and rectal mucosa biopsy results suggested HSCR.The child also had specific facial features and motor development delay.Whole exome test showed a de novo heterozygous mutation, ZEB2 gene c. 2761C>T (p.R921*). After laparoscopic-assisted Soave procedure, the child had normal bowel movements, and no surgery-related compli-cations occurred during the follow-up period.The child′s motor development improved after rehabilitation treatment.According to literature review, 2 female cases show similar clinical manifestations to this girl, but the genotypes were different.This patient expands the clinical phenotype of ZEB2 gene pathogenicity.

A rare case report on complete cervical agenesis with vaginal atresia and suspended didelphys uterus with hematometra and left haematosalpinx

Congenital uterine malformations are deviations from normal anatomy resulting due to defective fusion of Mullerian ducts or the paramesonephric ducts in the developing embryo. These anomalies may be isolated or in combination with urological abnormalities. The mean prevalence of female congenital malformations in general population is up to ⁓ 7%. Patients with these anomalies usually present during pubertal age due to absence of onset of menses, cyclical abdominal pain, or in reproductive age group as infertility or recurrent pregnancy loss depending upon the degree of malformation. Cervical agenesis is a rare Mullerian anomaly with an incidence of 1 in 80,000 females. It represents 3% of all uterine anomalies. It is rarely associated with a functioning uterus (4.8%). Cervical agenesis is often associated with vaginal atresia (less than 50%). It is important to classify these anomalies for easy diagnosis and plan appropriate preoperative treatment.

Non-classical congenital adrenal Hyperplasia with accompanying congenital anomalies: Vaginal atresia, left kidney agenesis, and urogenital malformations

@#A 16-year-old male-looking patient presented at the emergency room for severe abdominal pain. Physical examination revealed acute abdomen, ambiguous genitalia, empty rectal vault with watery discharge and right lower quadrant palpable mass. Ultrasound showed a uterus and right adnexal mass. General surgery evaluated urethral patency and noted presence of recto-urethral fistula. Surgical exploration, right salpingo-oophorectomy and suprapubic cystostomy were done. Immediate referral to a reproductive endocrinologist was done postoperatively. Retrograde urethrogram and cystogram revealed neurogenic bladder with fistula formation. On follow up, whole abdomen MRI revealed thickened endometrium with fluid levels, tortuous left fallopian tube, multiloculated left adnexal mass and left renal agenesis. Serum levels of 17-hydroxyprogesterone and cortisol were noted to be elevated and karyotyping revealed 46 XX. Patient then underwent psychiatric evaluation and assessment. Patient was readmitted for urology and pediatric surgery diagnostic work up. However, regardless of the findings, patient decided not to undergo further surgeries and opted to be female.

Congenital Vaginal Atresia: A Report of 39 Cases in a Regional Obstetrics and Gynecology Hospital / 华中科技大学学报（医学）（英德文版）

To investigate the clinical course and management of congenital vaginal atresia.This retrospective analysis included patients with congenital vaginal atresia treated from March 2004 to August 2014 at the Obstetrics and Gynecology Hospital of Fudan University.Thirty-nine patients were included in this study.Their average age was 16.87±2.2 years when they came to our hospital.Totally,51％ of the patients had isolated congenital vaginal atresia with a normal cervix,whereas the others had either cervical atresia or imperforate hymen.The primary presenting signs and symptoms included primary amenorrhea (71.8％),periodic abdominalgia (41.0％),abdominal pain (36.0％),dyspareunia (10.3％),menstrual disorders (5.1％),and pelvic mass (5.1％).Ultrasound and magnetic resonance imaging (MRI) were effective inspection methods for the screening of urogenital tract-associated anomalies.Vaginoplasty mainly included simple vagina reconstruction with insertion of a mold (n=22) and split-thickness skin grafting (n=4).In 64％ of surgical patients,normal menstrual bleeding was achieved.Four of the patients subsequently became pregnant and delivered at term.Primary amenorrhea,periodic abdominalgia and abdominal pain are the main reasons for the post pubertal patients to visit doctors.Surgical methods can successfully provide these patients an opportunity for subsequent conservative management,can result in normal menstrual bleeding,resolve cyclic pelvic pain,and provide some potential for fertility.

Laparoscopic-assisted vaginoplasty by using sigmoid colon and peritoneum for congenital complete colpatresia / 局解手术学杂志

Objective To study the desired therapeutic effect of vaginoplasty using sigmoid colon or peritoneum for entire vaginal atre-sia.Methods From May 2015 to October 2015,8 patients with complete vaginal atresia in our hospital performed vaginoplasty using sigmoid colon or peritoneum successfully.The operation methods,prognosis and therapeutic effect and quality of sexual life of two groups were com-pared and analyzed to investigate a perfect operative method and ideal nursing.Results Laparoscopic vaginoplasty using the peritoneum compared with that using sigmoid colon has advantages of shorter time of operation,less bleeding,less trauma and quicker recovery.However, artificial vagina using sigmoid colon was much more similar to a natural vagina in morphological and physiological characteristics,merely ac-companied by excessive mucus discharge during the postoperative period.At lower risk of vaginal adhesion and stenosis,laparoscopically as-sisted vaginoplasty using sigmoid colon graft also puts high technical requirements.Two patients normally developed uterus menstruate regular-ly.Four patients without uterus and 2 patients with rudimentary uterus experienced good sexual intercourse after vaginoplasty.Conclusion Patients with complete colpatresia who have normal womb should creat a patent and functional vagina until adolescence to restore its physio-logical and reproductive function.Anatomical reconstructive treatment of vaginal agenesis for patients with absent or hypoplastic uterus can be postponed till the late teens or in the adult.Both laparoscopic sigmoid vaginoplasty and peritoneal vaginoplasty achieve a minimal-invasive, cosmetic,natural lubricous, smooth artificial vagina for patient’ s sex life satisfactory.

Multiple Developmental Urogenital Anomalies: A Therapeutic Challenge.

Case report: In cases of atretic lower vagina, drainage of hematocolpos per se is inadequate as recurrent hematocolpos from re-stenosis is common. Surgical reconstruction in these cases should be directed to relieve obstruction and ensure continued vaginal patency. A 14-year-old girl reported with primary amenorrhea and recurrence of cyclical lower abdominal pain due to re-stenosis following a primary intervention for hematocolpos. Evaluation identified an atretic lower vagina and multiple associated urinary tract anomalies like unascended right kidney, malrotated left duplex collection system, ureteric diverticula and bladder diverticulum with left ureter opening into it. Though associated Grade IV vesicoureteral reflux (VUR) posed a management dilemma, drainage of hematocolpos and restoration of vaginal continuity by pull through of the proximal vagina and approximating its edges to fourchette relieved the patient of pain, restored menstruation, resolved the VUR and obviated the need for extensive urinary reconstructive procedures. Conclusion: In case of atretic lower vagina, drainage of hematocolpos per se is inadequate as recurrent hematocolpos from re-stenosis is common and surgical reconstruction should be directed to relieve obstruction and ensure continued vaginal patency. Coexisting developmental urinary tract anomalies may not require immediate surgical intervention.

Diagnóstico y tratamiento de la amenorrea primaria en adolescentes: A propósito de tres casos clínicos / Diagnosis and treatment of primary amenorrhea in adolescents: A review of three clinical cases

La Amenorrea se define básicamente como la ausencia de menstruaciones por tres meses desde el momento en que se realiza el diagnóstico y representa un síntoma que puede ser consecuencia de un problema estructural o funcional en las adolescentes y es un motivo de consulta en ginecología Infanto juvenil. Ésta, a su vez, puede ser primaria o secundaria según el momento de presentación, siendo la amenorrea primaria la menos frecuente y de más difícil diagnóstico. Debido a esto, el médico debe estar familiarizado con los fenómenos fisiológicos involucrados con la pubertad. Se presentan tres casos que consultaron por presentar amenorrea por patologías distintas, y que fueron sometidas a evaluación clínica para obtener el diagnóstico, resultando ser: un síndrome disgenético tipo síndrome de Turner, una malformación del tracto genital tipo Atresia de Vagina y un síndrome de Morris o Insensibilidad completa a los Andrógenos. Se mencionan los datos clínicos y paraclínicos para obtener el diagnóstico final en cada uno de los casos clínicos planteados, así como también la conducta médica y quirúrgica posterior al diagnóstico. Se concluye que la amenorrea primaria durante la adolescencia es poco frecuente en la práctica diaria, y que su abordaje, diagnóstico y tratamiento deben ser de carácter multidisciplinario.

Primary amenorrhea is the absence of menstruation for tree months from the time of diagnosis; it is a symptom of either a functional or a structural problem, and the cause of consultation at the adolescent gynecology clinic. Amenorrhea can be primary or secondary; the primary type being less frequent than the secondary one, but more difficult to diagnose. For this reason, the physician must be well acquainted with the physiological phenomenon of puberty. Three cases of primary amenorrhea are reported, from different pathologies: Turner Syndrome, Genital Tract Malformation (Vaginal Atresia) and Morris Syndrome (complete insensitivity to androgens). The most important clinical and paraclinical data for the final diagnosis of each of the three cases are discussed, as well as the medical and surgical treatment after the diagnosis. It is concluded that primary amenorrhea during adolescence is not a common disorder in the clinical practice, and that its diagnosis and treatment requires a multidisciplinary approach.

Tabique vagina transverso y atresia vaginal / Transverse vaginal septum and vaginal atresia

Se presenta un caso de una paciente adolescente con una malformación poco frecuente. Se presentan los datos clínicos y los estudios de laboratorio y gabinete realizados a la paciente, y el tratamiento quirúrgico. En esta paciente la intervención fue exitosa. El TVT si bien es una patología poco frecuente, requiere tenerse en cuenta para diagnostico y tratamiento oportuno.

A case of an adolescent patient with a malformation appears little frequents. The clinical data and the studies of laboratory and cabinet appear made the patient, and the surgical treatment. In this patient the intervention was successful. The TVT although is a little frequent pathology, it requires to consider for diagnose and opportune treatment.

Two Cases of Hydrometrocolpos in Neonate

Imperforated hymen, vaginal atresia or high transverse vaginal septum are caused by incomplete vaginal canalization. The infant may be present with distention of the vagina and the uterus with glandular secretions stimulated by maternal estrogens, known as hydrometrocolpos. We report two cases of hydrometrocolpos. In the first case, distal vaginal atresia with cystovaginal fistula was revealed by a contrast fluoroscope through the percutaneous catheterization. In the second case, urogenital sinus was detected by a fistulogram through a single orifice in the genital area. We decompressed the cystic mass by ultrasonogram guided aspiration, promptly at birth, then achieved the transient drainage of cystic fluids by percutaneous catheterization.

A Case of Neonatal Hydrocolpos due to Vaginal Atresia

A 37-week gestation female neonatal infant presented with lower abdominal distension. Ultrasonography showed a hydrocolpos, measuring 8.3 cm x 6.9 cm x 6.1 cm in size and on perineal examination, vaginal atresia was noticed. On a follow-up ultrasonography performed 41 days after aspiration, the hydrocolpos was enlarged to 10 cm x 8 cm x 7 cm in size, and compressed adjacent small bowel significantly with concomitant bilateral hydronephrosis. Temporary tubed vaginostomy was carried out with the provision of excellent drainage and easy access for contrast studies to outline the pathologic anatomy. We are planning to perform vaginal reconstructive surgery on her age around 2 years, when her vaginal structure might grow sufficiently for reconstructive surgery.

A Case of Vaginal Construction with Ileum / 대한비뇨기과학회지

Congenital vaginal atresia is rare and occurs as a result of aplasia of the mullerian ducts This is a source of great embarrassment and distress to patients and their close relatives. These patients are usually treated with chronic dilatation of the shallow vaginal introitus (Frank Technique) or by skin graft vaginoplasty (McIndoe procedure). Neither of these procedures is entirely satisfactory, as both may lead to neovaginal stenosis, inadequate length or poor lubrication. The use of an isolated segment of intestine for vaginoplasty generally circumvents these problems. A 31-year-old unmarried woman had suffered from vaginal narrowing and stenosis after skin graft vaginoplasties. We treated her with vaginoplasty using an isolated ileal segment.