Materiały źródłowe

• #1 Müllerian Agenesis: Diagnosis, Management, and Treatment | ACOG

  https://www.acog.org/clinical/clinical-guidance/committee-opinion/articles/2018/01/mullerian-agenesis-diagnosis-management-and-treatment

  Mllerian agenesis, also referred to as mllerian aplasia, Mayer-Rokitansky-Kster-Hauser syndrome, or vaginal agenesis, has an incidence of 1 per 4,5005,000 females. […] Patients with mllerian agenesis usually are identified when they are evaluated for primary amenorrhea with otherwise typical growth and pubertal development. […] Evaluation for associated congenital anomalies is essential because up to 53% of patients with mllerian agenesis have concomitant congenital malformations, especially of the urinary tract and skeleton. […] All patients with mllerian agenesis should be offered counseling and encouraged to connect with peer support groups. […] Primary vaginal elongation by dilation is the appropriate first-line approach in most patients because it is safer, patient-controlled, and more cost effective than surgery.

• #2 ACOG Committee Opinion No. 728: Müllerian Agenesis: Diagnosis, Management, And Treatment – PubMed

  https://pubmed.ncbi.nlm.nih.gov/29266078/

  Mllerian agenesis, also referred to as mllerian aplasia, Mayer-Rokitansky-Kster-Hauser syndrome, or vaginal agenesis, has an incidence of 1 per 4,500-5,000 females. Mllerian agenesis is caused by embryologic underdevelopment of the mllerian duct, with resultant agenesis or atresia of the vagina, uterus, or both. Patients with mllerian agenesis usually are identified when they are evaluated for primary amenorrhea with otherwise typical growth and pubertal development. The most important steps in the effective management of mllerian agenesis are correct diagnosis of the underlying condition, evaluation for associated congenital anomalies, and psychosocial counseling in addition to treatment or intervention to address the functional effects of genital anomalies. […] The psychologic effect of the diagnosis of mllerian agenesis should not be underestimated. All patients with mllerian agenesis should be offered counseling and encouraged to connect with peer support groups. Future options for having children should be addressed with patients: options include adoption and gestational surrogacy. Assisted reproductive techniques with use of a gestational carrier (surrogate) have been shown to be successful for women with mllerian agenesis. Nonsurgical vaginal elongation by dilation should be the first-line approach. When well-counseled and emotionally prepared, almost all patients (90-96%) will be able to achieve anatomic and functional success by primary vaginal dilation. In cases in which surgical intervention is required, referrals to centers with expertise in this area should be considered because few surgeons have extensive experience in construction of the neovagina and surgery by a trained surgeon offers the best opportunity for a successful result.

• #3 Mullerian Duct Anomalies: Overview, Incidence and Prevalence, Embryology

  https://emedicine.medscape.com/article/954110-workup

  Mullerian agenesis, also termed mullerian aplasia, is characterized by an absence or hypoplasia of the uterus, proximal vagina, and, in some cases, the fallopian tubes. The condition has been also referred to as the Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome, when it occurs in its most extreme form, both uterine and vaginal aplasia. […] Mullerian agenesis can be partial or complete. Partial mullerian agenesis is more rarely encountered and is characterized by a normal uterus and small vaginal pouch distal to the cervix. Complete mullerian agenesis (MRKH syndrome) is the most common variant encountered, and it is characterized by congenital absence of the vagina and the uterus in 90-95% of cases. The fallopian tubes are normal, and the ovaries have normal endocrine and oocyte function.

• #4 Vaginal agenesis

  https://android7.visualdx.com/visualdx/diagnosis/?diagnosisId=53073&moduleId=101

  Vaginal agenesis (also known as Müllerian agenesis or Mayer-Rokitansky-Kuster-Hauser syndrome) refers to a condition where there are abnormalities during embryogenesis that cause an underdevelopment of the Müllerian duct. Patients may have complete lack of a vaginal canal and only have a small dimple in that area, or patients may have a foreshortened vagina. Coexistent uterine anomalies (including complete absence of uterus) are often present, although about 5% of patients will have a normal uterus. The exact etiology of vaginal agenesis is unknown, but it is thought to have genetic components. Incidence is 1 in 5000 women. Due to the fact that patients will usually develop secondary sex characteristics as expected and have normal growth patterns, despite this being a congenital condition, these patients often will not present until they go without menses at the time of expected menarche (primary amenorrhea). Some patients may present with cyclic abdominal pain related to having a functioning or partially functioning uterus but trapped blood flow due to outlet obstruction.

• #5 Vaginal Agenesis | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/vaginal-agenesis

  During pregnancy, a baby’s reproductive system may not finish developing in the mother’s uterus. She may be born without a vagina and have other absent reproductive organs. This condition is called vaginal agenesis. […] Sometimes vaginal agenesis is recognized at birth. Most times, the condition isn’t diagnosed until puberty, when the teen notices she hasn’t started her period and seeks medical advice. […] Young women typically present for testing sometime during the middle teen years when they experience primary amenorrhea, or lack of a menstrual period, after having normal breast development. […] The first step in treating your child is making an accurate and complete diagnosis. […] Testing is especially important for vaginal agenesis, in order to understand the extent of the reproductive anomalies.

• #6 Vaginal Agenesis | Nationwide Children’s Hospital

  https://www.nationwidechildrens.org/family-resources-education/700childrens/2023/05/vaginal-agenesis

  Rarely, vaginal agenesis is noticed in a baby or girl before puberty on a physical examination of the female genitalia because there is no vaginal hole or opening. […] In most cases, vaginal agenesis is discovered after puberty. […] If a female does not start her period (menstruation) by the time she is 15 years old, this may be a sign of vaginal agenesis. […] Only a doctor can diagnose the condition, as there can be other problems that cause no periods to begin. […] To properly diagnose the problem, the doctor will need to do a few tests, including: […] Physical exam of the vaginal area […] Genetic test using a blood sample to see if the condition was caused by changes in your child’s DNA and chromosomes […] Ultrasound (a type of imaging that uses sound waves to check for the presence of ovaries and uterus) […] Magnetic resonance imaging (MRI) (a way to check for the presence of ovaries and uterus using magnetic fields and radio frequencies to make an image).

• #7 Vaginal agenesis – Hancock Health

  https://www.hancockhealth.org/mayo-health-library/vaginal-agenesis/

  Vaginal agenesis is often identified at puberty when a female does not begin menstruating. […] Your pediatrician or gynecologist will diagnose vaginal agenesis based on your medical history and a physical exam. […] Vaginal agenesis is typically diagnosed during puberty when your menstrual periods dont start, even after youve developed breasts and have underarm and pubic hair. […] Your health care provider may recommend testing, including: Blood tests to assess your chromosomes and measure your hormone levels can confirm your diagnosis and rule out other conditions. […] Ultrasound images show your health care provider whether you have a uterus and ovaries and identify if there are problems with your kidneys. […] An MRI gives your health care provider a detailed picture of your reproductive tract and kidneys. […] Your health care provider may also order other tests to examine your hearing, heart and skeleton. […] Talk to your health care provider about the best surgical option to meet your needs, and the risks and required care after surgery.

• #8 Vaginal agenesis – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/vaginal-agenesis/symptoms-causes/syc-20355737

  Vaginal agenesis is often identified at puberty when a female does not begin menstruating. […] Use of a vaginal dilator, a tubelike device that can stretch the vagina when used over a period of time, is often successful in creating a vagina. In some cases, surgery may be needed. Treatment makes it possible to have vaginal intercourse. […] It’s not clear what causes vaginal agenesis, but at some point during the first 20 weeks of pregnancy, tubes called the mullerian ducts don’t develop properly. […] Typically, the lower portion of these ducts develops into the uterus and vagina, and the upper portion becomes the fallopian tubes. The underdevelopment of the mullerian ducts results in an absent or partially closed vagina, absent or partial uterus, or both. […] If you haven’t had a menstrual period by age 15, see your health care provider.

• #9 Treatment of Vaginal Agenesis – Part 1 – Alabama Fertility

  https://alabamafertility.com/treatment-of-vaginal-agenesis-part-1/

  Most of the time, the diagnosis is first considered around age 16. […] Usually, vaginal agenesis is diagnosed by a history and physical exam. […] If there is some question about the diagnosis, a pelvic MRI, a chromosome test, and hormone tests might also be obtained. […] it’s important to find a doctor who is experienced in making the right diagnosis rather than just someone who can help the patient make a vagina. […] We’ll do some tests to confirm the diagnosis (and look for related issues that might need treatment, like a functioning uterine remnant) and talk about how to fix your problem.

• #10 Vaginal Agenesis | Inova

  https://www.inova.org/our-services/inova-womens-services/gynecology/pediatric-adolescent/vaginal-agenesis

  Vaginal agenesis is rare, occurring only once in every 3,000 females. […] Females with this condition are usually diagnosed in their early teens. […] Patients with vaginal agenesis: […] Typically present in adolescence with primary amenorrhea. […] Have a congenital absence of the uterus and vagina. […] A correct diagnosis of the underlying condition.

• #11 Vaginal agenesis – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/vaginal-agenesis/diagnosis-treatment/drc-20355741

  Your pediatrician or gynecologist will diagnose vaginal agenesis based on your medical history and a physical exam. […] Vaginal agenesis is typically diagnosed during puberty when your menstrual periods don’t start, even after you’ve developed breasts and have underarm and pubic hair. […] Sometimes vaginal agenesis can be diagnosed at an earlier age during an evaluation for other problems or when parents or a doctor notice a baby has no vaginal opening. […] Your health care provider may recommend testing, including: […] Blood tests to assess your chromosomes and measure your hormone levels can confirm your diagnosis and rule out other conditions. […] Ultrasound images show your health care provider whether you have a uterus and ovaries and identify if there are problems with your kidneys. […] An MRI gives your health care provider a detailed picture of your reproductive tract and kidneys. […] Your health care provider may also order other tests to examine your hearing, heart and skeleton.

• #12 Vaginal Anomalies – Pediatrics – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/pediatrics/congenital-renal-and-genitourinary-anomalies/vaginal-anomalies

  Diagnosis of most congenital anomalies of the vagina is by physical examination, ultrasound, and retrograde contrast studies. […] Vaginal agenesis combined with cervical and uterine anomalies is also known as mullerian agenesis, mullerian aplasia, or Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome. […] As a result, an external examination is frequently normal, and diagnosis often occurs only at puberty because of a failure to menstruate, with or without pain. […] Amenorrhea is due to uterine agenesis. […] Vaginal agenesis can be associated with kidney anomalies, most commonly unilateral renal agenesis. […] Treatment options include self-dilation with vaginal dilators and surgical reconstruction, depending on the specifics of the anomaly. Timing of treatment is left up to the patient.

• #13

  https://journals.lww.com/greenjournal/fulltext/2018/01000/acog_committee_opinion_no__728_summary__m_llerian.35.aspx

  Mllerian agenesis, also referred to as mllerian aplasia, Mayer-Rokitansky-Kster-Hauser syndrome, or vaginal agenesis, has an incidence of 1 per 4,5005,000 females. Mllerian agenesis is caused by embryologic underdevelopment of the mllerian duct, with resultant agenesis or atresia of the vagina, uterus, or both. Patients with mllerian agenesis usually are identified when they are evaluated for primary amenorrhea with otherwise typical growth and pubertal development. The most important steps in the effective management of mllerian agenesis are correct diagnosis of the underlying condition, evaluation for associated congenital anomalies, and psychosocial counseling in addition to treatment or intervention to address the functional effects of genital anomalies. […] Patients with mllerian agenesis usually are identified when they are evaluated for primary amenorrhea with otherwise typical growth and pubertal development.

• #14 Vaginal Agenesis: Causes, Symptoms, Diagnosis & Treatment

  https://my.clevelandclinic.org/health/diseases/23458-vaginal-agenesis

  Vaginal agenesis is a congenital abnormality (birth defect). It happens when a fetus’s vagina doesnt develop properly in the uterus. […] Healthcare providers treat vaginal agenesis with medical devices that gradually dilate the vaginal canal. Sometimes, you need surgery to create a vaginal opening. […] To diagnose vaginal agenesis, your provider (or your childs provider) will do a: Physical exam of the vaginal and anal area. Ultrasound, to see images of the vagina and pelvis. MRI, an imaging study that shows detailed images of the vagina and reproductive organs. […] Treatments are available to help with this condition. […] Treatment for vaginal agenesis includes: Self-dilation of the vagina. […] Your provider may recommend a procedure called a vaginoplasty to construct a vaginal canal.

• #15 Mayer-Rokitansky-Küster-Hauser Syndrome: Overview

  https://my.clevelandclinic.org/health/diseases/23380-mayer-rokitansky-kuster-hauser-syndrome

  Mayer-Rokitansky-Kster-Hauser syndrome (MRKH syndrome) is a congenital condition that causes an infant to be born with an underdeveloped or missing uterus and/or vagina. […] People typically discover they have MRKH syndrome during their teen years when they never have a menstrual period. This is because they dont have a fully formed uterus and vagina. […] MRKH syndrome is also called vaginal agenesis. […] Healthcare providers diagnose most cases of MRKH syndrome when a teenager doesnt get their first menstrual period. […] The first step in diagnosing the condition is to perform a physical exam. Your healthcare provider will insert a gloved finger into your vagina to measure its depth and width. MRKH is associated with a shortened vagina, which your provider will likely discover through this exam.

• #16 Vaginal Agenesis: Causes, Symptoms & Treatment

  https://www.medicoverhospitals.in/diseases/vaginal-agenesis/

  Diagnosis usually occurs during adolescence when menstrual cycles fail to commence. A healthcare provider will conduct a detailed medical history review and physical examination and utilize imaging techniques such as ultrasound or MRI to assess the reproductive organs’ development. These diagnostics confirm the presence and extent of vaginal agenesis, helping to guide subsequent treatment planning. […] Diagnosed through pelvic examination, imaging, and sometimes genetic testing.

• #17 Vaginal Agenesis Treatment in Turkey – Vaginoplasty Clinic

  https://www.vaginoplastyturkey.com/en/vaginal-agenesis-treatment-in-turkey

  Patients with vaginal agenesis have normal growth and pubertal development such as pubic and axillary hair and breast maturation. However they cannot have menstruation which is called primary amenorrhea. If they have a uterus but no vagina, menstrual bleeding will accumulate in the uterus (hematometra) since it cannot flow out, this causes sharp lower abdominal pain monthly. […] Gynecological examination reveals that the vagina is absent and pelvic ultrasonography may be followed by MRI to confirm if the uterus, tubes and ovaries exist. MRI can also diagnose any concommitant abnormalities related to the urinary system. […] Karyotyping is necessary in patients with vaginal agenesis to examine if they have XX or XY chromosomes. In rare cases XY or XO karyotype may exist in patients with vaginal agenesis. […] Differential diagnosis of MRKH syndrome includes isolated vaginal atresia found in various syndromes such as Mc Kusick-Kaufman Syndrome, androgen insensitivity syndrome (with XY karyotype), Mullerian aplasia and hyperandrogenism (46 XX) and renal-genital-middle ear anomalies.

• #18 Care and Counseling of the Patient with Vaginal Agenesis | Intersex Society of North America

  https://isna.org/node/83/

  Vaginal agenesis involves issues of physical abnormality, body image, sexual identity, and sexual/reproductive functioning that require long-term medical and psychological management. […] Vaginal agenesis, which occurs in approximately 1 in every 5,000 to 7,000 female births, is a significant threat to the mental health and well-being of an otherwise normal, healthy young woman. […] Thorough evaluation at the time of diagnosis is paramount and should include phenotypic studies to determine the exact karyotype. […] Vaginal agenesis may be inappropriately diagnosed as an imperforate hymen, and misguided attempts at hymenotomy may result in secondary scar formation. […] The patient should be told that she was born with an incompletely developed vagina; the expression „born without a vagina” should be avoided.

• #19 Imperforate hymen in your adolescent patient: Don’t miss the diagnosis | MDedge

  https://blogs.the-hospitalist.org/content/imperforate-hymen-your-adolescent-patient-dont-miss-diagnosis

  Many gynecologists encounter imperforate hymen, a congenital vaginal anomaly, in general practice. As such, it is important to have a basic understanding of the condition and to be aware of appropriate screening, evaluation, and management. This knowledge will allow you to differentiate imperforate hymen from more complex anomalies preventing significant morbidity that could result from performing the wrong surgical procedure on this condition and to provide optimal surgical management. […] The diagnosis is often delayed until puberty. […] Examination of the external genitalia reveals a perineal bulge secondary to hematocolpos. This finding, coupled with a rectal examination and pelvic ultrasonography is usually sufficient to make the diagnosis. However, magnetic resonance imaging (MRI) of the pelvis should be obtained in cases where the diagnosis is uncertain or the physical exam is more consistent with vaginal septum or agenesis.

• #20 Mayo Clinic Health Library – Vaginal agenesis | Swiss Medical Network

  https://www.swissmedical.net/en/healtcare-library/con-20253613

  Vaginal agenesis is often identified at puberty when a female does not begin menstruating. […] Your pediatrician or gynecologist will diagnose vaginal agenesis based on your medical history and a physical exam. […] Vaginal agenesis is typically diagnosed during puberty when your menstrual periods don’t start, even after you’ve developed breasts and have underarm and pubic hair. […] Your health care provider may recommend testing, including: Blood tests to assess your chromosomes and measure your hormone levels can confirm your diagnosis and rule out other conditions. […] Ultrasound images show your health care provider whether you have a uterus and ovaries and identify if there are problems with your kidneys. […] An MRI gives your health care provider a detailed picture of your reproductive tract and kidneys.

• #21 Müllerian Agenesis: Diagnosis, Management, and Treatment | ACOG

  https://www.acog.org/clinical/clinical-guidance/committee-opinion/articles/2018/01/mullerian-agenesis-diagnosis-management-and-treatment

  Because primary vaginal dilation is successful for more than 9096% of patients, surgery should be reserved for the rare patient who is unsuccessful with primary dilator therapy or who prefers surgery after a thorough informed consent discussion with her gynecologic care provider and her respective parent(s) or guardian(s). […] Initial evaluation of the patient without a uterus may include the following laboratory tests: testosterone level, FSH level, and karyotype. […] Rudimentary mllerian structures are found in 90% of patients with mllerian agenesis by magnetic resonance imaging (MRI). […] Evaluation for associated congenital anomalies is essential because up to 53% of patients with mllerian agenesis have concomitant congenital malformations, especially of the urinary tract and skeleton. […] The most important steps in the effective management of mllerian agenesis are correct diagnosis of the underlying condition, evaluation for associated congenital anomalies, and psychosocial counseling in addition to treatment or intervention to address the functional effects of genital anomalies.

• #22 Congenital Anomalies of the Vagina – Brigham and Women’s Hospital

  https://www.brighamandwomens.org/obgyn/infertility-reproductive-surgery/congenital-anomalies/vagina-anomalies

  Vaginal agenesis, or absence of the vagina, is a congenital disorder of the female reproductive tract. It affects approximately 1 in every 5,000 female infants. The cause of vaginal agenesis is unknown. A woman with complete vaginal agenesis may have this abnormality based on the fact that the vagina did not grow during embryologic development and this is called Mayer-von RokitanskyKster-Hausers syndrome. […] Vaginal agenesis can be diagnosed on physical examination with additional information gathered from ultrasound or MRI. The differential diagnosis includes androgen insensitivity, which is described above. Women with vaginal agenesis from Mayer-von RokitanskyKster-Hausers syndrome have a karyotype of 46, XX which is the most common for women. Thus obtaining a karyotype can also be helpful in making a definitive diagnosis; additionally a testosterone level can also be helpful in making a diagnosis. Women with Mayer-von RokitanskyKster-Hausers syndrome will have a testosterone level in the normal female range, and women with androgen insensitivity will have a testosterone level in the normal male range.

• #23 Anomalies of the female genital tract – Knowledge @ AMBOSS

  https://www.amboss.com/us/knowledge/anomalies-of-the-female-genital-tract/

  The mere presence of a Mllerian duct anomaly does not necessitate surgical therapy. […] Definition: a condition in which the vagina is abnormally closed or absent. […] Etiology: Mllerian agenesis. […] Diagnostics: Normal levels of LH, FSH, prolactin, estradiol, and testosterone. […] MRI to determine if functional endometrium is present. […] Treatment: vaginoplasty. […] Confirmatory tests: ultrasound or MRI. […] Treatment: surgical pull-through procedure. […] Diagnostics: transvaginal ultrasonography or MRI.

• #24 Vaginal Agenesis | Lurie Children’s

  https://www.luriechildrens.org/en/specialties-conditions/vaginal-agenesis/

  Vaginal agenesis is a congenital condition where the vagina is incompletely developed or absent. This condition is rare, affecting approximately 1 in 5,000 newborn girls. […] Vaginal agenesis is present at birth but may not be immediately obvious as the external genitalia typically appear normal. The condition is often diagnosed during puberty when a girl does not begin her menstrual periods as expected (a condition known as amenorrhea). Diagnostic methods include: […] A detailed medical history and thorough physical examination. […] Ultrasound or MRI scans to visualize the reproductive organs. […] Genetic Testing: To identify any underlying genetic causes, though not always definitive.

• #25 Vaginal Agenesis | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/vaginal-agenesis

  Testing options include external genital exam, modified internal exam, ultrasound, and MRI. […] Sometimes a karyotype is performed for MRKH syndrome. Karyotyping is a test that allows doctors to examine chromosomes in a sample of cells and pinpoint specific genetic causes of a disease. All girls diagnosed with MRKH have the karyotype 46XX, which is a normal karyotype for all women.

• #26 Vaginal Agenesis | Intimate Wellness Institute

  https://iwiva.com/home-page/womens-speciality-care/advanced-gynecology/congenital-abnormalities/vaginal-agenesis/

  Vaginal agenesis is a congenital anomaly (birth defect). It happens when the vagina of a fetus doesn’t develop properly in your uterus. They may be missing all or part of their vagina. Although the condition is present at birth, it might go undiagnosed until later in life. The outer sex organs often appear normal, so women don’t learn that they have the condition until their teenage years. It becomes apparent when they don’t start their monthly period (menstruation). […] Sometimes, providers diagnose this condition during infancy or childhood. But most of the time, doctors diagnose the condition during your teenage years. Many people with the condition discover that they have it when they see their doctor because they haven’t started having a monthly period by age 15. […] To diagnose vaginal agenesis, the IWI team will do a physical exam of the vaginal and anal area. […] We may also recommend a blood test to look for chromosomal abnormalities. A DNA blood test can confirm a diagnosis of a genetic disorder, like MRKH syndrome, which is sometimes associated with vaginal agenesis.

• #27 What Is Vaginal Agenesis – Klarity Health Library

  https://my.klarity.health/what-is-vaginal-agenesis/

  Vaginal agenesis is a rare condition where the vagina and the womb (uterus) are partially developed or are not developed at all. […] Vaginal agenesis is known to affect only 1 in 5000 people assigned female at birth (AFAB). This condition can be present since birth and unknown until symptoms occur later in life. […] Vaginal agenesis is most commonly diagnosed during puberty when the menstrual periods have not started after the development of the breasts and body hair. Sometimes, a diagnosis can be made at an early age during an evaluation or a physical examination for other problems. […] Blood tests: They can be used to measure the hormone levels in the persons blood for confirmation and to rule out any other conditions. […] Imaging studies: MRI – This can give the paediatrician or gynaecologist a better, detailed image of the reproductive tract, and assess other organs around it. […] Genetic testing: Sometimes, karyotyping is performed for MRKH syndrome. This technique allows the professionals to assess the chromosomes in a sample of cells and pinpoint particular genetic causes for a condition. All individuals with MRKH have karyotype 46 XX.

• #28 Diagnostic imaging and cataloguing of female genital malformations | Insights into Imaging | Full Text

  https://insightsimaging.springeropen.com/articles/10.1007/s13244-016-0515-4

  An embryological classification system suggests the best diagnosis and appropriate management. […] The anomalies most frequently diagnosed incorrectly are the distal mesonephric anomalies (DMAs). […] DMAs are associated with unilateral renal agenesis or renal dysplasia with ectopic ureter. […] We analyse other complex malformations. Diagnostic imaging for these anomalies is essential. […] It is important to identify abnormalities of the female reproductive tract as they are associated with a range of gynaecological and obstetric problems. […] The overall prevalence of these disorders may be as high as 3 to 6 % and even higher in certain groups of women. […] Today, there is increased detection caused by increased utility of imaging. […] The magnetic resonance image (MR) is the imaging standard of reference because it is non-invasive, does not involve ionising radiation, has multiplanar capability, allows excellent soft-tissue characterisation and permits a greater field of interrogation than ultrasound (US) (2D and 3D).

• #29 Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a comprehensive update | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-020-01491-9

  Magnetic resonance imaging (MRI) of the internal genitalia is considered the golden standard method for the diagnosis of uterovaginal agenesis in MRKH syndrome and should always be performed when available. […] Chromosomal analysis by G/Q-banding is often performed to confirm normal female karyotype (46,XX). […] The most commonly used non-invasive method is self-dilation (also referred to as Franks method). […] ACOG recommends that surgery should be reserved for patients experiencing failure with dilation therapy and emphasizes that surgery still requires post-surgical dilation to avoid strictures. […] Continuous research in the genetics of MRKH syndrome is imperative to provide better knowledge of the pathogenesis and improve the patient care and counselling. […] The caring of patients with MRKH syndrome is complex and requires a patient-centered multidisciplinary approach in careful dialogue with the patient addressing all-together gynecological, sexual, psychological and infertility issues.

• #30 Vaginal Agenesis: Causes, Symptoms, Diagnosis, Treatment and Complications

  https://www.prepladder.com/neet-pg-study-material/obstetrics-and-gynaecology/vaginal-agenesis-causes-symptoms-diagnosis-treatment-and-complications

  Vaginal agenesis is an uncommon disorder in which the vagina does not develop, but the uterus (womb) may develop partially or not at all. […] A female is often diagnosed with vaginal agenesis when she does not begin menstruation at puberty. […] Your gynaecologist or paediatrician will diagnose vaginal agenesis based on your medical history and physical examination results. Vaginal agenesis is the term used to describe the condition in which menstruation does not start throughout puberty, even after pubic and underarm hair growth and breast development. […] Sometimes vaginal agenesis is detected at an earlier age when a baby’s vaginal opening is observed by parents or a physician, or when the condition is assessed for other problems. […] The following tests may be recommended by your healthcare provider: Blood tests that measure your hormone levels and examine your chromosomes can help you confirm your diagnosis and rule out other conditions.

• #31 Vaginal Agenesis: Causes, Symptoms, Diagnosis, Treatment and Complications

  https://www.prepladder.com/neet-pg-study-material/obstetrics-and-gynaecology/vaginal-agenesis-causes-symptoms-diagnosis-treatment-and-complications

  Ultrasound: Your physician can examine the kidneys to identify whether or not you have kidney problems. from an ultrasound, which also reveals whether you have an ovary or uterus. […] Magnetic resonance imaging is referred to as MRI: An MRI gives your doctor a good picture of your reproductive system and kidneys. […] To evaluate your heart, hearing, and skeleton, your doctor might also recommend additional testing.

• #32 Diagnostic imaging and cataloguing of female genital malformations | Insights into Imaging | Full Text

  https://insightsimaging.springeropen.com/articles/10.1007/s13244-016-0515-4

  However, other authors believe that US (3D) could replace MR as the new gold imaging standard in diagnosing Mllerian anomalies. […] Thus, to alert and help the physicians, especially radiologists, in diagnosing female genito-urinary malformations, these mentioned aspects will be reviewed briefly as well as the clinical presentation, catalogation and inclusion of female genital malformations in the embryological and clinical classification and in other current classification systems. […] Finally, diagnostic imaging for all female genito-urinary malformations is presented with emphasis on the more complex anomalies, which are better understood on this embryologic basis, in other words, according to the updated embryological and clinical classification of female genito-urinary malformations.

• #33 Mullerian Duct Anomalies: Overview, Incidence and Prevalence, Embryology

  https://emedicine.medscape.com/article/954110-overview

  The American College of Obstetricians and Gynecologists (ACOG) published their recommendations on the diagnosis, management, and treatment of mullerian agenesis, which are elucidated as follows: […] Mullerian agenesis patients are mostly identified when evaluated for primary amenorrhea with otherwise typical growth and pubertal development. […] Magnetic resonance imaging (MRI) finds rudimentary mullerian structures in 90% of patients with mullerian agenesis. These structures are difficult to interpret on ultrasonography. […] Evaluation for associated congenital anomalies is necessary because up to 53% of patients with mullerian agenesis have concomitant congenital malformations, particularly of the urinary tract and skeleton. […] Mullerian agenesis patients should be offered counseling and encouraged to find peer support groups.

• #33 Mullerian Duct Anomalies: Overview, Incidence and Prevalence, Embryology

  https://emedicine.medscape.com/article/954110-overview

  Mullerian agenesis, also termed mullerian aplasia, is characterized by an absence or hypoplasia of the uterus, proximal vagina, and, in some cases, the fallopian tubes. The condition has been also referred to as the Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, when it occurs in its most extreme form, both uterine and vaginal aplasia. […] Mullerian agenesis can be partial or complete. Partial mullerian agenesis is more rarely encountered and is characterized by a normal uterus and small vaginal pouch distal to the cervix. Complete mullerian agenesis (MRKH syndrome) is the most common variant encountered, and it is characterized by congenital absence of the vagina and the uterus in 90-95% of cases. The fallopian tubes are normal, and the ovaries have normal endocrine and oocyte function.

• #34

  https://link.springer.com/article/10.1007/s00192-024-05878-1

  Congenital cervicovaginal agenesis in the presence of a functional endometrium is a rare Mllerian anomaly. […] The case records of all the patients with vaginal or cervicovaginal agenesis in our hospital from January 2002 to December 2019 were reviewed retrospectively. […] Sixteen patients aged 14 to 26 years were included during the study period. […] Magnetic resonance imaging (MRI) confirmed cervicovaginal or distal vaginal agenesis. […] All the patients underwent utero-colo-vaginoplasty. […] Restoration of painless menstrual flow was possible in all 16 cases. […] Long-term complications were seen in 4 patients. […] In our experience, utero-colo-vaginoplasty allows for regular painless menstruation and coitus with minimal long-term complications. […] Vaginal and cervicovaginal agenesis are uncommon Mllerian malformations.

• #35 OHVIRA Syndrome—Diagnostic Dilemmas and Review of Literature

  https://www.jsafog.com/abstractArticleContentBrowse/JSAFOG/23547/JPJ/fullText

  Obstructed hemivagina, ipsilateral renal agenesis (OHVIRA) syndrome, as well as didelphic uterus, is a rare, obstructed mullerian anomaly, affecting the physical, reproductive, sexual, and mental health of the patient. The diagnosis is often delayed because of unawareness of the fact that even common gynecological complaints like vaginal discharge can be associated with this rare entity. A 3D ultrasound and a magnetic resonance imaging are helpful in confirming the diagnosis. […] Diagnosis of OHVIRA syndrome requires a multimodal approach, which includes a detailed history, meticulous examination, and appropriate imaging studies. […] Ultrasound and MRI are the established imaging modalities for diagnosing this condition with the ultrasound being the first-line option. A 3D ultrasound has 93% sensitivity and 100% specificity in the assessment of mullerian duct anomalies, hence a good alternative to MRI. However, expertise is required to diagnose the condition as the problem arises due to the small size of the uterus, nonreactive endometrium, and distended vagina in prepubertal and pubertal girls.

• #36 Vaginal Agenesis: Symptoms, Causes, Treatment | Qwark

  https://qwarkhealth.com/conditions/vaginal-agenesis

  Vaginal agenesis is a rare congenital anomaly that affects the vagina, preventing it from developing or being fully formed. […] Women with vaginal agenesis may have a small or nonexistent vaginal opening, which may create problems with menstruation and sexual intercourse. […] Common diagnostic tests used for Vaginal Agenesis include physical examination, pelvic ultrasound, MRI, blood work, and laparoscopy. […] Vaginal agenesis is diagnosed during an ultrasound examination by assessing the size and shape of the uterus, the presence or absence of ovaries, and the length of the vaginal canal. […] MRI is an imaging technique that uses a magnetic field and radio waves to create pictures of the internal structures of the body. […] Blood work tests for hormone levels that may indicate the presence of vaginal agenesis.

• #37 Diagnostic imaging and cataloguing of female genital malformations | Insights into Imaging | Full Text

  https://insightsimaging.springeropen.com/articles/10.1007/s13244-016-0515-4

  In these cases, there will be absence of the kidney, ureter, ovary, fallopian tube, hemiuterus and hemivagina (not detectable) on one side. […] If there is also contralateral Mllerian agenesis, the diagnosis will be Rokitansky syndrome with unilateral renal agenesis or atypical Rokitansky. […] MR is the best diagnostic tool, eventually complemented with hysterosalpingography (HSG) if unicornuate uterus is present. […] Cases with unilateral haematocolpos clinically manifest as progressive intra- and postmenstrual dysmenorrhoea present from menarche. […] If haematocolpos is suspected, abdominal, transrectal or transvaginal ultrasound (TVU) can greatly aid the diagnosis, and when IVP and cystoscopy show renal agenesis, the diagnosis is confirmed. […] Nowadays, an adequately interpreted MR can be conclusive.

• #38

  https://journals.lww.com/greenjournal/fulltext/2018/01000/acog_committee_opinion_no__728_summary__m_llerian.35.aspx

  Evaluation for associated congenital anomalies is essential because up to 53% of patients with mllerian agenesis have concomitant congenital malformations, especially of the urinary tract and skeleton. […] All patients with mllerian agenesis should be offered counseling and encouraged to connect with peer support groups. […] Future options for having children should be addressed with patients. […] Primary vaginal elongation by dilation is the appropriate first-line approach in most patients because it is safer, patient-controlled, and more cost effective than surgery. […] Because primary vaginal dilation is successful for more than 9096% of patients, surgery should be reserved for the rare patient who is unsuccessful with primary dilator therapy or who prefers surgery after a thorough informed consent discussion with her gynecologic care provider and her respective parent(s) or guardian(s).

• #39 MRKH Symptoms and Diagnosis | Miklos & Moore Urogynecology

  https://mrkh.com/mrkh-symptoms-diagnosis/

  The symptoms of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome are directly related to the abnormal development of the female reproductive system. This abnormal development is known as Mullerian Agenesis. […] One should consider MRKH if a girl does not have menstruation by age 16, if a patient has a very small or absent vaginal opening or cervix. One should also consider MRKH if the patient has been diagnosed with a horseshoe kidney or absent kidney (renal agenesis) as well an abnormal lower urinary tract especially if they have not had menses by the age of 16. […] If one suspects MRKH, it would be important to talk to a healthcare provider for an accurate diagnosis and possible treatment. A healthcare provider will make the diagnosis of MRKH by collecting important historical information, doing a physical exam, getting a radiologic study which might include: an ultrasound, CT scan or an MRI as well as genetic testing.

• #40 Vaginal Agenesis – Giggles – Giggles

  http://giggles.co.in/departments/vaginal-agenesis/

  Vaginal Agenesis is a rare congenital defect that affects the lives of many women around the world. The condition occurs when the vagina is not formed fully during the foetal stage. […] Diagnosing Vaginal Agenesis involves a thorough evaluation by a team of healthcare professionals. The diagnostic process typically begins with a physical examination and a review of the individuals medical history. During the physical exam, the healthcare provider will assess the external genitalia and look for any signs of abnormal development. […] Following diagnostic imaging tools will be ordered to assess the reproductive anatomy: Ultrasound, MRI. […] Once a diagnosis of Vaginal Agenesis is confirmed, additional testing may be needed to evaluate for other potential associated conditions. This includes: DNA test to confirm a diagnosis of a genetic disorder like MRKH syndrome, Renal Ultrasound to evaluate the kidneys and urinary tract, Auditory testing to assess hearing function. […] In some cases, Vaginal Agenesis may be detected at birth. In most cases, it is diagnosed during puberty.

• #41 MRKH Syndrome | Symptoms, Diagnosis & Treatment

  https://www.cincinnatichildrens.org/health/m/mrkh-syndrome

  Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome also known as Mllerian agenesis or vaginal agenesis is a rare condition that causes underdevelopment of the uterus, cervix and upper vagina. […] Doctors diagnose most people with MRKH around age 14-15 years when they do not start having periods after otherwise normal puberty. […] To diagnose MRKH syndrome, doctors will take a health history and complete an exam. They will also conduct pelvic imaging, including an ultrasound or magnetic resonance imaging (MRI). They will do bloodwork to look at puberty hormones. Genetic testing will be done to confirm female sex chromosomes. […] To determine the MRKH syndrome type, doctors also will screen for kidney, spine and, occasionally hearing issues.

• #42 Mullerian Duct Anomalies: Overview, Incidence and Prevalence, Embryology

  https://emedicine.medscape.com/article/954110-workup

  The American College of Obstetricians and Gynecologists (ACOG) published their recommendations on the diagnosis, management, and treatment of mullerian agenesis, which are elucidated as follows: […] Mullerian agenesis patients are mostly identified when evaluated for primary amenorrhea with otherwise typical growth and pubertal development. […] Magnetic resonance imaging (MRI) finds rudimentary mullerian structures in 90% of patients with mullerian agenesis. These structures are difficult to interpret on ultrasonography. […] Evaluation for associated congenital anomalies is necessary because up to 53% of patients with mullerian agenesis have concomitant congenital malformations, particularly of the urinary tract and skeleton. […] Mullerian agenesis patients should be offered counseling and encouraged to find peer support groups.

• #43 Diagnostic imaging and cataloguing of female genital malformations | Insights into Imaging | Full Text

  https://insightsimaging.springeropen.com/articles/10.1007/s13244-016-0515-4

  The injection of a contrast agent into the blind hemivagina will allow the identification of the ectopic ureter by retrograde filling. […] 3D-US and MR might be the main diagnostic tools, but the mentioned aspects and the radiographic images after retrograde filling must be considered. […] These are rare anomalies, with 3D-US and MR being highly efficient in the diagnosis of anomalies of the cervix and vagina. […] However, the combined uterovaginal agenesis is the most common type of agenesis (bilateral Mllerian agenesis) and it corresponds with MRKH or Rokitansky syndrome. […] This is an isolated Mllerian anomaly affecting both the Mllerian tubercle and ducts. […] Patients report primary amenorrhoea. […] TRU, CT or MR demonstrate uterus absence with normal ovaries and two solid rudimentary horns.

• #44 Müllerian agenesis – Wikipedia

  https://en.wikipedia.org/wiki/M%C3%BCllerian_agenesis

  Mllerian agenesis, also known as vaginal agenesis, is a congenital malformation characterized by a failure of the Mllerian ducts to develop, resulting in a missing uterus and variable degrees of vaginal hypoplasia of its upper portion. Mllerian agenesis (including absence of the uterus, cervix and/or vagina) is the cause in 15% of cases of primary amenorrhoea. […] Medical examination supported by gynecologic ultrasonography demonstrates a complete or partial absence of the cervix, uterus, and vagina. […] If there is no uterus, a woman with Mllerian agenesis cannot carry a pregnancy without intervention. […] A woman with Mllerian agenesis typically discovers the condition when, during puberty years, the menstrual cycle does not start (primary amenorrhoea). […] The etiology of Mllerian agenesis in many cases remains elusive.

• #45 Uterine hypoplasia with partial vaginal agenesis | Radiology Case | Radiopaedia.org

  https://radiopaedia.org/cases/uterine-hypoplasia-with-partial-vaginal-agenesis?lang=us

  Uterine hypoplasia with partial vaginal agenesis mri […] The absence of vaginal layers could be identified at its anatomical location between the urinary bladder and rectum, apart from the lower third where its layers can be delineated. […] Uterine hypoplasia is considered a class I Mllerian duct anomaly. In this case, the uterus is very small relative to her age, with the absence of menarche. Further hormonal assays and chromosomal analysis are required.

• #46 Orphanet: Isolated partial vaginal agenesis

  https://www.orpha.net/en/disease/detail/96269

  A rare, non-syndromic urogenital tract malformation characterized by the absence of a vagina or the presence of a vaginal dimple shorter than 5 cm. It is often associated with uterine agenesis, hematocolpos or primary amenorrhea and dyspareunia. Ovaries and fallopian tubes are normal. […] Diagnostic tests (8) […] The documents contained in this website are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.

• #47 Pediatric Urinary Retention and Constipation: Vaginal Agenesis with Hematometrocolpos – The Western Journal of Emergency Medicine

  https://westjem.com/diagnostic-acumen/pediatric-urinary-retention-and-constipation-vaginal-agenesis-with-hematometrocolpos.html

  An 11-year-old healthy female presented to the emergency department with three days of worsening suprapubic pain, urinary retention, and constipation. […] The obstructive cause of her abdominal pain and urinary retention was revealed by magnetic resonance imaging (MRI) of the pelvis, which confirmed distal vaginal agenesis with uterine distention from hematometrocolpos. […] Visualization of vaginal-appearing tissue on physical examination instead of bulging bluish tissue more indicative of an imperforate hymen may suggest vaginal agenesis, but both ultrasound and MRI are recommended to adequately characterize pelvic and neighboring anatomy.

• #48 Duzce Medical Journal » Submission » Diagnosis and Treatment Approaches in Vaginal Agenesis

  https://dergipark.org.tr/en/pub/dtfd/issue/86226/1531224

  The development of the female genital system is a complex process that depends on a series of events involving cellular differentiation, migration, fusion, and recanalization. […] The psychosexual effects of vaginal agenesis should not be overlooked, and clinical care primarily involves comprehensive counseling and support through open communication with the patient. […] For adult patients, treatment for vaginal agenesis typically starts with therapeutic counseling and education, with non-invasive vaginal dilation being recommended as the first-line approach, or surgery if necessary. […] Early detection and timely intervention can greatly enhance the outlook for individuals with these conditions. […] Besides considering the patient’s expectations, the surgeon’s experience plays a crucial role in selecting the appropriate surgical technique. […] In this review, the evaluation and treatment of vaginal agenesis, which constitutes an important part of congenital anomalies of the vagina, were discussed.

• #49 Mullerian Duct Anomalies: Overview, Incidence and Prevalence, Embryology

  https://emedicine.medscape.com/article/954110-overview

  There should be a discussion with patients concerning future options for having children. […] The first-line approach in most patients should be primary vaginal elongation by dilation. Compared with surgery, it is safer, patient-controlled, and more cost-effective. […] Surgery should be reserved for the rare patient who is unsuccessful with primary dilator therapy or who prefers surgery after a thorough informed consent discussion with her gynecologic care provider and her respective parent(s) or guardian(s). Primary vaginal dilation is successful for more than 90-96% of patients. […] Patients should be given a written medical summary of their condition, including a summary of concomitant malformations. This information may be useful if the patient requires urgent medical care or emergency surgery by a health care provider unfamiliar with mullerian agenesis.

• #50 Care and Counseling of the Patient with Vaginal Agenesis | Intersex Society of North America

  https://isna.org/node/83/

  Professional counseling of the patient and her parents should begin shortly after the abnormality is recognized. […] Early referral for counseling is essential for all of these patients to help them deal with issues of inadequacy, gender/sexual identity and functioning, and motherhood. […] The physician and counselor can reassure the patient that other women with vaginal agenesis have had similar concerns and have adapted well and that in all other ways her body is female and is functioning normally. […] The adolescent patient and her parents will need a complete understanding of the available treatment options. […] The nonsurgical Frank procedure and the McIndoe split-thickness skin-graft vaginoplasty should be discussed as alternatives. […] The importance of referral to a certified sex therapist cannot be overemphasized, since the physician and counselor form complementary relationships with the patient.

• #51 Care and Counseling of the Patient with Vaginal Agenesis | Intersex Society of North America

  https://isna.org/node/83/

  The physician also should reassure the patient that a „more functional” vagina can be created, avoiding references to an „artificial” vagina. […] There is some debate about when these patients should be treated. […] We believe that medical treatment should be deferred until the patient attains full growth, is psychologically prepared, and is socially and sexually mature. […] The goal was to increase the depth and caliber of the vagina with the use of graduated dilators, thus avoiding the need for surgical intervention. […] The Ingram technique is successful in approximately 90% of cases, and surgery should not be considered until the patient has undergone a sufficient trial of this approach. […] Should the nonsurgical technique fail or prove unsuccessful due to lack of motivation, the most popular surgical approach at present is the McIndoe split-thickness skin-graft vaginoplasty.

• #52

  https://journals.lww.com/greenjournal/fulltext/2018/01000/acog_committee_opinion_no__728_summary__m_llerian.35.aspx

  Regardless of the surgical technique chosen, referrals to centers with expertise should be offered. The surgeon must be experienced with the procedure because the initial procedure is more likely to succeed than follow-up procedures. […] Patients should be given a written medical summary of their condition, including a summary of concomitant malformations. This information may be useful if the patient requires urgent medical care or emergency surgery by a health care provider unfamiliar with mllerian agenesis.

• #53 Diagnosing & Treating Vaginal Agenesis – BioMoi

  https://biomoimedical.com/treatment-for-vaginal-agenesis/

  Vaginal agenesis is a condition that doctors think develops when a fetus is at around 20 weeks. […] Its important to understand, however, that vaginal agenesis requires a professionals diagnosis before any treatment is attempted. […] When you visit a doctor, he or she may recommend blood tests, an ultrasound, and/or an MRI to determine the best treatment options. Vaginal agenesis is a condition that presents differently in everyone, and these tests will confirm or rule out this condition and show the doctor which organs are or are not present. […] However, we cant stress enough the importance of proper diagnosis of vaginal agenesis before jumping right to vaginal dilators as the best treatment option.

• #54 Diagnostic imaging and cataloguing of female genital malformations | Insights into Imaging | Full Text

  https://insightsimaging.springeropen.com/articles/10.1007/s13244-016-0515-4

  Some of these rudimentary horns may occasionally present a small functioning endometrial cavity, giving rise to retrograde menstruation and endometriosis. […] Occasionally, the cavitated rudimentary horn might be well developed, with its reimplantation in a previously performed neovagina being possible.

• #55 Imperforate hymen in your adolescent patient: Don’t miss the diagnosis | MDedge

  https://blogs.the-hospitalist.org/content/imperforate-hymen-your-adolescent-patient-dont-miss-diagnosis

  MRI is vital to firm diagnosis. In addition to pelvic ultrasonography, pelvic MRI is necessary to delineate the anatomy with both vaginal septum and lower vaginal atresia, as preoperative evaluation of location and thickness of a vaginal septum as well as measurement of the total length of agenesis is imperative. Misdiagnosis of the vaginal septa or atresia as an imperforate hymen can lead to significant scarring and stenosis and can make corrective surgical procedures difficult or suboptimal. […] Hymenectomy is relatively straightforward and may be performed using a cruciate, elliptical, or u-incision. […] Care should be taken to prevent excision of hymeneal tissue too close to the vaginal mucosa, as this can lead to scarring and stenosis, and later lead to dyspareunia.

• #56 Didelphys Uterus Associated to Ipsilateral Vaginal and Renal Agenesis in Mother of Two Kids: Unusual Case Report

  https://www.gavinpublishers.com/article/view/didelphys-uterus-associated-to-ipsilateral-vaginal-and-renal-agenesis-in-mother-of-two-kids-unusual-case-report

  Embryologic anomaly of one Wolffian ducts may cause unilateral renal agenesis. This anomaly is additionally seen in 15-30% of uterine didelphys. […] The clinical presentation of didelphic uterus varies in patients with uterovaginal anomalies and renal agenesis; they present at a mean age of 17 years (range, 11-38). […] The literature available on the didelphys uterus is quite limited at the present time. Therefore, more studies are needed in order to better determine the reproductive and gestational outcomes. […] The fertility of women with untreated didelphys uterus has been shown by some sources to be better than those with other Mullerian duct abnormalities but still less than women with normal uterine anatomy. […] Finally, in our case, there was no problem of fertility or postoperative complication but we emphasize the importance of the early detection of Mullerian ducts abnormalities in women with urogenital anomalies for avoiding the misdiagnosis and for appropriating the management.

• #57 Clinical Features and Decision making of Congenital Vaginal Agenesis Combined with Cervical Aplasia: Case Report and Literature Review | Auctores

  https://auctoresonline.org/article/clinical-features-and-decision-making-of-congenital-vaginal-agenesis-combined-with-cervical-aplasia-case-report-and-literature-review

  Our case highlights that Mllerian duct anomalies should be considered in the differential diagnosis of cyclic abdominal pain, especially in patients with primary amenorrhea, fully estrogenized, who cannot communicate their symptoms. Early diagnosis and management are crucial in these cases to prevent disease progression.

• #58 Vaginal Agenesis: Symptoms, Causes, Treatment | Qwark

  https://qwarkhealth.com/conditions/vaginal-agenesis

  Laparoscopy may be used to diagnose vaginal agenesis, but it is not commonly used as a first-line diagnostic test. […] The prognosis for this condition is generally good with appropriate medical and surgical management. […] Early diagnosis is crucial in improving the prognosis of vaginal agenesis. […] Surgery can be an effective treatment option for vaginal agenesis. […] Specific factors that can affect the prognosis of vaginal agenesis include the type and severity of the condition, the presence of other congenital anomalies or associated medical conditions, the age at diagnosis, and the timing and effectiveness of treatment. […] Vaginal Agenesis cannot be prevented through early diagnosis and treatment, as it is a congenital condition. […] Genetic counseling plays a vital role in preventing Vaginal Agenesis.

• #59 Clinical Features and Decision making of Congenital Vaginal Agenesis Combined with Cervical Aplasia: Case Report and Literature Review | Auctores

  https://auctoresonline.org/article/clinical-features-and-decision-making-of-congenital-vaginal-agenesis-combined-with-cervical-aplasia-case-report-and-literature-review

  Cervical agenesis is a rare congenital Mllerian anomaly, with an incidence of 1:80,000 to 1:100,000 newborns. Its association with vaginal agenesis is even more uncommon, reported in 39% of cervical agenesis cases. […] Early diagnosis and management are crucial in these cases to prevent disease progression. […] Magnetic resonance imaging (MRI) is considered the gold standard for diagnosis, as well as for detecting associated renal tract abnormalities. […] According to the literature, most publications recommend hysterectomy for cervical agenesis, complete cervical and vaginal atresia, due to the high risk of cervical stenosis, adhesions, pelvic inflammatory disease, and endometriosis, even when the cervix is open. […] Gynecological teams have attempted to preserve the uterus and fertility in patients with complete cervical atresia, but the sample size has been small.

• #60 Vaginal Agenesis: Causes, Symptoms, Diagnosis & Treatment

  https://my.clevelandclinic.org/health/diseases/23458-vaginal-agenesis

  If you have surgery, ask your provider what you can expect during recovery. […] Ask your provider when you can safely have sex after treatment for vaginal agenesis. […] Ask your provider if you can carry a child after treatment. […] Vaginal agenesis is a congenital abnormality (birth defect). That means its present at birth and happens while a baby is growing in your uterus, so there isnt a way to prevent it. […] Your outlook depends on many factors. These include the treatment you received and which of your reproductive organs the condition affected. With treatment, many people have a satisfying sex life. […] If you or your child hasnt started menstruating by age 15, call your provider. Its important to get a full evaluation and physical exam. […] Vaginal agenesis can cause problems with menstruation, reproductive health and sexual function. But treatments can help.

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