If you have reached puberty, secondary sexual characteristics have appeared, such as the emergence of breasts and the growth of pubic and axillary hair, but you are late in getting your period, you should be alert to primary amenorrhea. Primary amenorrhea during puberty is caused by congenital absence of the vagina, which is the organ for the discharge of menstrual blood, and the absence of a vagina means that even if the endometrium is shed and bleeding occurs, it cannot be discharged. What is congenital absence of vagina? Why does it occur? It is literally the congenital absence of vaginal development, also known as MRKH′s syndrome. It is a congenital absence of vaginal development, also known as MRKH′s syndrome. It is mainly due to a chromosomal or genetic abnormality between the fifth and eighth week of pregnancy, which results in vaginal hypoplasia and is almost always combined with congenital absence of the uterus or the primordial uterus, and occasionally with a functioning uterus. Patients have normal development of the fallopian tubes and ovaries bilaterally and therefore have secondary female features. It is a female-restricted autosomal dominant disorder, and there is a tendency for families to cluster together. What are the clinical manifestations of congenital absence of vagina? Primary amenorrhea Primary amenorrhea is the most typical symptom of congenital absence of vagina. Because the vagina is the channel of menstrual blood discharge and the patient mostly has no uterus, there is no endometrium that can shed and bleed with the ovarian hormonal cycle. With no water at the source and no ducts, there is naturally no menstrual flow. Primary amenorrhea is also usually the number one reason why patients with congenital absence of vagina are seen. 2. Difficulty in sexual life The vagina is the female organ of intercourse. Without a vagina, patients often have difficulty in sexual life after marriage, and some patients are first seen because they are unable to have a normal sexual life. 3. Periodic lower abdominal pain The vagina is the female organ of intercourse, and there is no vagina, so patients often have difficulty in sexual life after marriage, and some patients are first seen because they cannot have normal sexual life. 4. Abnormal development of the urinary system The female reproductive system and the urinary system interact with each other in the primitive embryonic development, so most patients with congenital anovagina mostly have abnormal development of the urinary system (e.g. renal agenesis), but less often they will show clinical symptoms, which are mostly found after examination. 5. Combination of other organ malformations Some patients (5-12%) have other multiple malformations of the skeletal system (scoliosis, limb bone deformities), heart, ear, eye, etc., which are also known as the MURCS syndrome. What tests should be done for congenital anovagina? 1. Gynecological examination A careful gynecological examination by a gynecologist will initially determine whether the patient has a vaginal defect. 2.Ultrasound examination If congenital absence of vagina is initially suspected after gynecological examination, transabdominal or transrectal or perineal ultrasound will be performed with the patient’s consent to clarify the status of the vaginal cavity and uterus. Urological examination is also routinely performed to clarify whether renal hypoplasia is combined. The karyotype of female karyotype is 46,XX. This test can exclude androgen insensitivity syndrome (also known as complete testicular feminization, karyotype 46,XY), male pseudohermaphroditism, true hermaphroditism and other types of anomalies of vaginal development. 4.MRI examination When the patient is suspected of combining other anomalies, MRI examination can be perfected to classify the patient with accurate anomalies and to clarify whether there is endometrial tissue. 5.Laparoscopic examination After comprehensive non-invasive examination, laparoscopic examination and laparoscopic surgery will be performed by an experienced physician for patients who need surgery. What are the treatment options for congenital anovagina? It includes surgical and non-surgical treatment. 1. Non-surgical treatment: Vaginoplasty by direct inward pressure with a mold in the navicular fossa of the well-developed vulva. It is suitable for patients with a deep vestibular fossa who can satisfy their sexual needs after mold expansion. Surgery is required not only for congenital anovagina, but also for other congenital anomalies such as vaginal atresia, androgen insensitivity syndrome, and vaginal defects caused by tumors and trauma. The surgical options include trans-perineal vaginoplasty, combined trans-abdominal perineal vaginoplasty and laparoscopic vaginoplasty. The first two methods are gradually used less and less because the graft material is prone to infection, or the graft material is difficult to obtain a satisfactory sex life, or the abdominal wall scar affects the aesthetics, or the mold needs to be used for a long time after surgery. With the increasing maturity of laparoscopic techniques, laparoscopic substitution vaginoplasty is now mostly used. Laparoscopic vaginoplasty includes laparoscopic intestinal (sigmoid colon, ileum) vaginoplasty, laparoscopic peritoneal vaginoplasty, and laparoscopic vestibular mucosal lift. The mainstay of these procedures are laparoscopic sigmoid colonic surrogate vaginoplasty and peritoneal surrogate vaginoplasty. Laparoscopic sigmoid vaginoplasty: The sigmoid vagina is less prone to contractures and adhesions; it has sufficient width and length, and its tissue structure, appearance and sensory capabilities are similar to those of a natural vagina; and the sigmoid vagina produces mucus during sexual intercourse, which has a natural lubricating effect and a contraction function, making it more conducive to sexual intercourse. However, the large amount of odorous intestinal secretion in the early postoperative period causes a lot of inconvenience to the patient, and there is a possibility of prolapse and stricture of the artificial vagina after surgery. Now the laparoscopic peritoneal vaginoplasty (Luohu II) modified by Prof. Luo Guangnan of Shenzhen Luohu Hospital has been recognized by domestic and foreign colleagues and is more acceptable to patients. Laparoscopic peritoneal vaginoplasty (Luohu II): The peritoneum is soft, moist, elastic, and close to the normal vaginal mucosa in form and function, and it also has strong secretion, defense and healing ability, which makes it a more ideal cover for artificial vagina. Moreover, its operation time and bleeding volume are significantly less than those of sigmoid vaginoplasty. And it is feasible to live 2 months after the operation, and there is no need to use the mold after regular sexual life. However, severe adhesions of the pelvic peritoneal organs are a contraindication to surgery. 3. Other Patients with congenital anovagina mostly have low self-esteem. Therefore, patients’ family members should pay attention to psychological guidance and give spiritual encouragement to patients to avoid causing great mental pressure to them.