Materiały źródłowe

• #1 ACOG Committee Opinion No. 355: Vaginal agenesis: diagnosis, management, and routine care – PubMed

  https://pubmed.ncbi.nlm.nih.gov/17138802/

  Vaginal agenesis occurs in 1 of every 4,000-10,000 females. The most common cause of vaginal agenesis is congenital absence of the uterus and vagina, which also is referred to as mllerian aplasia, mllerian agenesis, or Mayer-Rokitansky-Kster-Hauser syndrome. The condition usually can be successfully managed nonsurgically with the use of successive dilators if it is correctly diagnosed and the patient is sufficiently motivated. […] Besides correct diagnosis, effective management also includes evaluation for associated congenital renal or other anomalies and careful psychologic preparation of the patient before any treatment or intervention. If surgery is preferred, a number of approaches are available; the most common is the Abbe-McIndoe operation. Women who have a history of mllerian agenesis and have created a functional vagina require routine gynecologic care and can be considered in a similar category to that of women without a cervix and thus annual cytologic screening for cancer may be considered unnecessary in this population.

• #2 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. […] Have a congenital absence of the uterus and vagina. […] A correct diagnosis of the underlying condition. […] An evaluation for associated congenital, renal or other anomalies. […] Once a young woman is mature enough treatment may begin. Options may include expectant management, non surgical vaginal dilation or surgical treatment.

• #3 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. […] The exact etiology of vaginal agenesis is unknown, but it is thought to have genetic components. […] Incidence is 1 in 5000 women.

• #4 An Atypical Cause of Primary Amenorrhea: A Case Report of Rare Vaginal Agenesis

  https://pmc.ncbi.nlm.nih.gov/articles/PMC9993800/

  Vaginal agenesis is part of a group of anomalies, referred to as Mullerian anomalies due to their embryologic origin, in which there is a congenital absence of the vagina. […] Vaginal agenesis, also known as Mayer-Rokitansky-Kuster-Hauser (MRKH) Syndrome, is a form of Mllerian agenesis and is defined as the congenital absence of the vagina. […] Embryologically, vaginal agenesis is caused by the underdevelopment of the Mllerian duct, resulting in fibrous tissue replacing the upper vagina. […] Vaginal agenesis occurs due to the urogenital sinus failing to form the caudal portion of the vagina, which causes fibrous tissue to replace the vaginal opening during embryologic development. […] Vaginal agenesis falls into a group of anomalies called Mullerian abnormalities. […] Diagnosis of vaginal agenesis can be done via physical exam, MRI, laparoscopy, hysteroscopy, sonography, and hysterosalpingography.

• #4 An Atypical Cause of Primary Amenorrhea: A Case Report of Rare Vaginal Agenesis

  https://pmc.ncbi.nlm.nih.gov/articles/PMC9993800/

  Treatment of vaginal agenesis should utilize a multi-faceted approach. It is essential to determine the underlying cause and evaluate for related congenital anomalies. […] The American College of Obstetricians and Gynecologists (ACOG) suggests that first-line treatment is non-surgical with self-dilation due to excellent success rates. […] Vaginal agenesis is a rare disease presentation, but it still occurs, and we should keep it on our differential diagnosis in females who have abdominal pain and primary amenorrhea. […] We believe that physicians should consider vaginal agenesis in their differential diagnosis for patients presenting with cyclic abdominal pain and amenorrhea.

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

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

  Vaginal agenesis (a-JEN-uh-sis) is a rare disorder in which the vagina doesn’t develop, and the womb (uterus) may only develop partially or not at all. […] 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.

• #6 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. […] The exact cause of this genetic abnormality is unknown, but many different congenital conditions are known to lead to vaginal agenesis. […] Mayer-von Rokitansky-Kster-Hauser’s Syndrome (MRKH) leads to 90 percent of vaginal agenesis cases. There are several different variations of this congenital disorder. Some patients may have no vagina and no uterus. Others may have a midline uterus, but no vagina and no cervix. Sometimes MRKH is associated with kidney, skeletal, and hearing problems. Most commonly, a patient with MRKH will not have a uterus. […] About 7 to 8 percent of patients with vaginal agenesis have a less common condition called androgen insensitivity syndrome (AIS). These patients have a normal female appearance, but lack a vagina, cervix, uterus, fallopian tubes, and ovaries.

• #7 Congenital anomalies of the hymen and vagina – UpToDate

  https://www.uptodate.com/contents/congenital-anomalies-of-the-hymen-and-vagina

  Development of the female genital tract is a complex process that is dependent upon a series of events involving cellular differentiation, migration, fusion, and canalization. Failure of any one of these processes results in a congenital anomaly. […] Vaginal agenesis (Mayer-Rokitansky-Kuster-Hauser syndrome) […] Agenesis (atresia) of the lower vagina.

• #8 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. Failure of any of these processes results in congenital anomalies. […] 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. […] Consequently, managing these issues often requires a multidisciplinary approach, engaging specialists such as urologists, gynecologists, endocrinologists, and geneticists, among others. Early detection and timely intervention can greatly enhance the outlook for individuals with these conditions. […] This is because the success of the initial surgery is critical to the effectiveness of any subsequent procedures if required. […] In this review, the evaluation and treatment of vaginal agenesis, which constitutes an important part of congenital anomalies of the vagina, were discussed.

• #9 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 doesn’t develop properly in the uterus. […] Vaginal agenesis can occur along with other abnormalities of the reproductive system. Some people may not have a fully developed uterus (the organ in which a fetus grows) or fallopian tubes (which carry eggs to the uterus). Problems with the kidneys or the spine can also occur. […] Healthcare providers don’t know what causes this condition. It happens while a fetus is growing inside your uterus. At some point in the first 20 weeks of fetal development, the female reproductive system doesn’t develop as it should. There may be abnormalities in the vagina, uterus, fallopian tubes or cervix (the lower part of the uterus). […] These abnormalities might result from environmental factors, like exposure to a toxic substance during pregnancy. Or, they might result from genetics. It’s possible to inherit some of the conditions associated with vaginal agenesis.

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

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

  Vaginal agenesis can be a sign of (or occur along with) several conditions, including various disorders of sex differentiation (DSD). These include: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, a rare disorder that causes abnormalities in the reproductive organs. MRKH syndrome is the most common disorder associated with vaginal agenesis. The syndrome causes the vagina and uterus to develop abnormally or not develop at all. […] Your provider may recommend a procedure called a vaginoplasty to construct a vaginal canal. The technique your provider uses will depend on your anatomy and several other factors. Providers can create a vagina by placing a traction device on the absent vagina, using a skin graft or the skin from the inside of your cheek or a portion of your bowel (intestine).

• #10 Vaginal agenesis | UM Health-Sparrow

  https://www.uofmhealthsparrow.org/departments-conditions/conditions/vaginal-agenesis

  Vaginal agenesis (a-JEN-uh-sis) is a rare disorder in which the vagina doesn’t develop, and the womb (uterus) may only develop partially or not at all. This condition is present before birth and may also be associated with kidney or skeletal problems. […] 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.

• #11 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. This is a congenital condition that has also been connected to renal or bone problems. […] The Mullerian ducts, a tube that connects the uterus, do not form normally during the first 20 weeks of pregnancy; this is the exact cause of vaginal agenesis. […] The underdevelopment of the Mullerian ducts may result in an absent or partially closed vagina, an absent or partially formed uterus, or both.

• #12 Vaginal Agenesis – Clinical Tree

  https://clinicalpub.com/vaginal-agenesis/

  Vaginal agenesis is the congenital absence of the vagina, most often associated with an absence of the uterus (MayerRokitanskyKsterHauser [MRKH] syndrome). […] Failure of the endoderm of the urogenital sinus and the epithelium of the vaginal vestibule to fuse and perforate during embryonic development. This process is normally completed by the 21st week of gestation. Patients with a congenital absence of the vagina but with a uterus present represent an extreme form of transverse vaginal septum.

• #13 Septate uterus with complete vaginal agenesis: an undescribed Müllerian malformation | Gynecological Surgery | Full Text

  https://gynecolsurg.springeropen.com/articles/10.1007/s10397-012-0774-0

  Mllerian malformations are the consequence of failure in the fusion or resorption processes of the two Mllerian ducts at around 9 weeks of gestation. […] Vaginal agenesis is a rare female congenital tract anomaly. […] In our case, fusion between the caudal portions of the Mllerian ducts was complete but resorption was not, causing septation of the uterus and cervix. The upper vagina was absent, probably due to the lack of fusion between the caudal portions of the Mllerian ducts and the urogenital sinus. […] Disruption at any point in this differentiation process can result in different types of congenital anomalies of the female genital tract. […] It appears that between 13 and 20 weeks, the septum formed by the median wall between the two Mllerian ducts undergoes resorption. Two theories may explain this resorption. It could be unidirectional from the caudal to the cranial part of the septum, or bidirectional originating in the isthmic portion and simultaneously extending caudally and cranially.

• #14

  https://journals.lww.com/md-journal/fulltext/2018/01190/vaginal_atresia_and_cervical_agenesis_combined.47.aspx

  A combination of Vaginal atresia and septate uterus as a novel genital malformation has been reported the first time. It offers a support for the bidirectional theory. […] The correct diagnosis was made and confirmed intraoperatively as a genital malformation, vaginal atresia and cervical agenesis associated with septate uterus. […] The embryology of this complicated spectrum of genital malformations is controversial because of the questionable developmental progress. Based on the classic unidirectional theory, the fusion and canalization of Mllerian ducts progresses in a caudad-to-cranial direction, which makes it impossible to explain how the complete septate uterus developed in the absence of the cervix. However, the bidirectional theory can explain the combination of a septate uterus, double cervix, and longitudinal vaginal septum. According to this theory, the fusion and canalization of Mllerian ducts start from the isthmus, and then proceeds in both directions separately. Our case might provide additional evidence to support that the fusion of the upper part of the Mllerian ducts can be complete, but subsequent resorption of the median septum does not occur, resulting in formation of a complete septate corpus. Simultaneously, at the lower part of the Mllerian duct, the fusion progress does not occur or anomalous development results in cervical agenesis and upper vaginal atresia.

• #15 Vaginal atresia – Wikipedia

  https://en.wikipedia.org/wiki/Vaginal_atresia

  Vaginal atresia is a condition in which the vagina is abnormally closed or absent. The main causes can either be complete vaginal hypoplasia, or a vaginal obstruction, often caused by an imperforate hymen or, less commonly, a transverse vaginal septum. It results in uterovaginal outflow tract obstruction. This condition does not usually occur by itself within an individual, but coupled with other developmental disorders within the female. The disorders that are usually coupled with a female who has vaginal atresia are Mayer-Rokitansky-Kster-Hauser syndrome, Bardet-Biedl syndrome, or Fraser syndrome. […] The cause for vaginal atresia is unknown. Typically, the creation of the vaginal canal is completed within the fetus by the 20th week of gestation. Researchers believe in patients with vaginal atresia, tubes known as the Mllerian ducts do not develop correctly within the first 20 weeks of gestation/pregnancy. Typically, one of these ducts develops in the fallopian tubes while the other ducts develop into the vagina and uterus. Vaginal atresia is found to occur when the urogenital sinus does not contribute to the formation of the lower portion of the vagina.

• #16 Müllerian agenesis – Wikipedia

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

  Mllerian agenesis is hypothesized to be a result of autosomal dominant inheritance with incomplete penetrance and variable expressivity, which contributes to the complexity involved in identifying the underlying causal mechanisms. […] The underlying causes are still being investigated, but several causative genes have been studied for their possible association with the syndrome. Most of these studies have served to rule-out genes as causative factors, but thus far, only WNT4 has been associated with Mllerian agenesis with hyperandrogenism. […] WNT4 has been clearly implicated in the atypical version of this disorder. A genetic mutation causes a leucine to proline residue substitution at amino acid position 12. This occurrence reduces the intranuclear levels of catenin. In addition, it removes the inhibition of steroidogenic enzymes like 3-hydroxysteriod dehydrogenase and 17-hydroxylase. Patients therefore have androgen excess. Furthermore, without WNT4, the Mllerian duct is either deformed or absent. Female reproductive organs, such as the cervix, fallopian tubes, and much of the vagina, are hence affected. […] An association with 17q12 microdeletion syndrome, a deletion mutation in the long arm (q) of chromosome 17, has been reported. The gene LHX1 is located in this region and may be the cause of a number of these cases.

• #17 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

  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 most promising genetic CNVs are 17q12 and 16p11.2. The 17q12 locus encompasses LHX1 and HNF1B. Single nucleotide variants in LHX1 have been reported in MRKH syndrome and Lim1 knock-out in mice results in a Mllerian aplasia. […] The proof-of-concept of UTx as an infertility treatment to women with MRKH came with the worlds first livebirth after UTx which took place in September, 2014 in Gothenburg, Sweden.

• #17 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

  Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome, also referred to as Mllerian aplasia, is a congenital disorder characterized by aplasia of the uterus and upper part of the vagina in females with normal secondary sex characteristics and a normal female karyotype (46,XX). […] The etiology of MRKH syndrome still remains elusive, however increasing reports of familial clustering point towards genetic causes and the use of various genomic techniques has allowed the identification of promising recurrent genetic abnormalities in some patients. […] The etiology of MRKH syndrome still remains unclear. Tissue patterning and organ morphogenesis in the human embryo is a complex process and result from a combination of timely cues from genetic factors, soluble morphogens, chemical factors and mechanical forces and several possible etiologies should therefore be considered at this current state of knowledge including monogenic, oligogenic, polygenic, multifactorial, and environmental factors.

• #18 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. […] The etiology of mullerian agenesis is unclear. The wide spectrum of anomalies encountered in this anomaly suggests a field defect involving closely related structures derived from intermediate mesoderm. Most cases occur sporadically, although the rising number of reported familial cases indicates a genetic etiology. […] The karyotype of females having mullerian aplasia is 46,XX. Approximately 4% of reported cases are familial, with affected siblings, and in some cases it is transmitted as an autosomal dominant trait.

• #18 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. […] 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. […] Surgical treatment should be considered only when the patient can participate in the decision-making, wishes to become sexually active, and is highly motivated to use a vaginal prosthesis for several months after surgery. […] The aim of surgical treatment is to create a neovagina. Although several vaginoplasty methods have been developed, refined, and modified, no definitive surgical approach has been established. […] The modified McIndoe procedure remains the most common surgical approach to vaginoplasty.

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

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

  The strategy for vaginoplasty is to develop a space between the bladder and the rectum. […] The use of artificial dermis and absorbable adhesion barriers show promise as exogenous graft sources in vaginal reconstruction. […] The modified McIndoe procedure is a highly successful procedure, and patient satisfaction is high. Although most patients cannot obtain full fertility, except through surrogates, they can have normal sexual relations.

• #19 Vaginal agenesis – VALINTERMED treatment in Valencia

  https://valintermed.com/en/medlibrary/vaginal-agenesis/

  Vaginal agenesis often results from spontaneous mutations or inherited genetic abnormalities. To date, several genes have been identified that are involved in the pathogenesis of this disorder. For example, mutations in the WNT4 and LHX1 genes have been associated with the development of vaginal agenesis. These genes play a key role in the development of the genitals during the early stages of embryogenesis. Research suggests that abnormalities in these genes may lead to abnormalities in the formation of the vagina and other reproductive structures. […] The main causes are genetic abnormalities, mutations in certain genes and exposure to teratogens during pregnancy.

• #20 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 doesnt develop properly in your uterus. […] Vaginal agenesis can occur along with other abnormalities of the reproductive system. Some people may not have a fully developed uterus (the organ in which a fetus grows) or fallopian tubes (which carry eggs to the uterus). Problems with the kidneys or the spine can also occur. […] Healthcare providers dont know what causes this condition. It happens while a fetus is growing inside your uterus. At some point in the first 20 weeks of fetal development, the female reproductive system doesnt develop as it should. There may be abnormalities in the vagina, uterus, fallopian tubes or cervix (the lower part of the uterus). […] These abnormalities might result from environmental factors, such as exposure to a toxic substance during pregnancy. Or, they might result from genetics. Its possible to inherit some of the conditions associated with vaginal agenesis.

• #20 Vaginal Agenesis | Intimate Wellness Institute

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

  Vaginal agenesis can be a sign of (or occur along with) several conditions, including various disorders of sex differentiation (DSD). These include: Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome, a rare disorder that causes abnormalities in the reproductive organs. MRKH syndrome is the most common disorder associated with vaginal agenesis. The syndrome causes the vagina and uterus to develop abnormally or not develop at all. […] Androgen insensitivity syndrome (AIS), an inherited condition in which a baby does not develop a uterus, cervix, fallopian tubes and part of the vagina. In some cases, the vagina may not be present at all.

• #21 Vaginal Agenesis (Congenital Absence of Vagina): Causes, Symptoms, and Treatment Methods | DocHospitals

  https://dochospitals.com/en/vaginal-agenesis-atc2489/

  Vaginal agenesis, a congenital defect, occurs when the fetus’s vagina does not develop properly in the mother’s womb. In these patients, the vagina may be partially or completely absent. […] Experts have not fully determined the factors causing vaginal agenesis. However, vaginal agenesis occurs during the fetal development in the mother’s womb. These individuals experience abnormal development of reproductive organs during the first 20 weeks of fetal growth. […] Factors that may contribute to these abnormalities include exposure to toxic substances during pregnancy or genetic causes. Vaginal agenesis may be a sign of or occur alongside various conditions, including disorders of sex development. These conditions include MRKH syndrome and androgen insensitivity syndrome.

• #22 Mayer-Rokitansky-Küster-Hauser syndrome: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/mayer-rokitansky-kuster-hauser-syndrome/

  Researchers now suggest that genetic and environmental factors together contribute to the development of MRKH syndrome, although the specific factors are often unknown. […] It is also unclear why some girls and women with MRKH syndrome have abnormalities in parts of the body other than the reproductive system. Certain tissues and organs, such as the kidneys, develop from the same embryonic tissue as the Müllerian duct, and researchers suspect that problems during development could affect these organs as well.

• #22 Mayer-Rokitansky-Küster-Hauser syndrome: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/mayer-rokitansky-kuster-hauser-syndrome/

  Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a disorder that causes the vagina and uterus to be underdeveloped or absent. […] The cause of MRKH syndrome is unknown. Changes in several genes that are involved in development before birth have been identified in girls and women with MRKH syndrome. However, these genetic changes have been found in only a small number of affected people, and it is unclear whether they actually cause MRKH syndrome. Researchers are working to determine how genetic changes could lead to problems with the development of the female reproductive system. […] The features of MRKH syndrome are due to incomplete development of the Müllerian duct. This is a structure in the embryo that develops into the uterus, fallopian tubes, cervix, and the upper part of the vagina. The cause of the incomplete development of the Müllerian duct is unknown.

• #23 Vaginal and Mullerian Agenesis | Norton Children’s

  https://nortonchildrens.com/services/gynecology/conditions/vaginal-mullerian-agenesis/

  Vaginal agenesis is a rare disorder that occurs when the vagina doesn’t develop and the uterus may only develop partially or not at all. The condition is present before birth. […] Most girls with vaginal agenesis have MRKH (also known as Müllerian agenesis). With MRKH, a developing baby’s reproductive system starts to grow but doesn’t fully form. […] There are several variations of MRKH. Most commonly, a patient with MRKH will not have a uterus. The cervix and vagina might also be absent. MRKH also is associated with kidney, skeletal and hearing problems. […] A small percentage of patients with vaginal agenesis have this rare condition. Kids with AIS have a normal female appearance but may lack certain female reproductive organs. […] Treatment options for vaginal agenesis may include vaginal dilation: A small round tube (similar to a tampon) may be used to stretch the vaginal canal. As the weeks go by, the patient switches to larger dilators until a normal vaginal canal is created. […] If dilation doesn’t work, surgery to create a functional vagina (vaginoplasty) may be an option.

• #24 Vaginal Agenesis: Causes, Symptoms And Treatment

  https://www.netmeds.com/health-library/post/vaginal-agenesis-causes-symptoms-and-treatment?srsltid=AfmBOopAeNRjpxA_Ke-wpRaZVfewBkJN3M49J6Lg8F3zMIRrvrY7fIxA

  Vaginal agenesis, also known as Mullerian agenesis, Mullerian aplasia, Bardet-Biedl syndrome, Fraser syndrome, or Mayer-Rokitansky-Kuster-Hauser syndrome, is a congenital birth defect in which the vagina is either short, doesnt develop fully, or be absent altogether. […] Vaginal agenesis usually occurs before birth and may also be associated with problems related to the kidney or skeletal framework. […] Although the exact cause of vaginal agenesis is still unclear, studies show that at some point during the first 20 weeks of the gestational period during pregnancy, tubes called the Mullerian ducts dont develop properly as they should. The lower portion of these Mullerian ducts usually grow into the uterus and vagina, whereas the upper part forms the fallopian tubes. It is due to the underdevelopment of the Mullerian ducts that results in an absent or partially closed vagina, uterus, or both.

• #25 Vaginal atresia: Causes, symptoms, treatments, and more

  https://www.medicalnewstoday.com/articles/vaginal-atresia

  Vaginal atresia occurs when the urogenital sinus fails to form the lower portion of the vagina. […] Vaginal atresia is a rare condition affecting 1 in 4,000 to 10,000 people. […] Vaginal atresia occurs when the urogenital sinus fails to form the lower portion of the vagina during fetal development. […] The condition usually occurs as a result of the following syndromes: Bardet-Biedl syndrome, Fraser syndrome, Mayer-Rokitansky-Kster-Hauser syndrome (MRKH). […] Vaginal agenesis occurs when the upper portion, or proximal portion, of the vagina does not develop. […] Vaginal agenesis affects the Mllers ducts, but vaginal atresia does not. […] A surgeon will create a canal within the tissue between the rectum and the bladder. […] According to a 2014 article, surgical procedures are a large part of treating vaginal atresia.

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

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

  Vaginal agenesis combined with cervical and uterine anomalies is also known as mullerian agenesis, mullerian aplasia, or Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome. […] Usually, the lower one-third of the vagina is present because its embryologic origin is the urogenital sinus, whereas the upper one-third of the vagina, cervix, uterus, and fallopian tubes derive from the paramesonephric ducts. 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. If a uterus develops, it is frequently small but may produce menstrual fluid that is unable to drain, causing pain. […] Vaginal agenesis can be associated with kidney anomalies, most commonly unilateral renal agenesis. It can also be associated with skeletal or abdominal wall abnormalities.

• #27 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. […] Vaginal Agenesis is a rare congenital condition affecting female babies. Nearly 1 out of every 5000-7000 female infants are born with this condition. The condition occurs when a foetuss vagina doesnt develop properly in the uterus. […] There is no specific known cause for Vaginal Agenesis. For some reason, the development of the foetus does not progress as it should after 20 weeks of gestation; specifically, the tubes called the Mullerian ducts dont develop properly. Various disorders of sex differentiation (DSD) can be associated with Vaginal Agenesis or may present as a symptom of the condition. […] Complications associated with Vaginal Agenesis include kidney and urinary tract problems, congenital heart conditions, difficulty conceiving, and sexual and psychological issues.

• #28 Vaginal Agenesis | Obgyn Key

  https://obgynkey.com/vaginal-agenesis/

  Vaginal agenesis is congenital absence of the vagina, most often associated with an absence of the uterus (Mayer-Rokitansky-Kster-Hauser syndrome). […] Failure of the endoderm of the urogenital sinus and the epithelium of the vaginal vestibule to fuse and perforate during embryonic development. This process is normally completed by the 21st week of gestation. Patients with a congenital absence of the vagina but with a uterus present represent an extreme form of transverse vaginal septum.

• #29 What Is Agenesis of the Vagina?

  https://www.icliniq.com/articles/womens-health/agenesis-of-the-vagina

  Agenesis of the vagina is a rare condition, occurring before birth. It is often left unnoticed until the puberty period of a girl as menstruation is not possible due to a lack of vaginal opening. The treatment for vaginal agenesis is using a vaginal dilator or surgery to create a vaginal opening. Most doctors recommend vaginal dilators as an initial treatment option as it is an invasive method.

• #30 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. […] Women with vaginal agenesis can also have small rudimentary uterine horns which are lateral to the midline. These uteri can also function, if they contain an endometrial stripe women with rudimentary uterine horns can also be managed in a similar fashion to what is described above, for women with a single midline uterus. […] 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.

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

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

  Women with vaginal agenesis will need to create a vagina to have normal sexual function. There are numerous options for creation of a vagina. […] Alternatively, a vagina can be created with the utilization of a skin graft and this procedure is called a McIndoe procedure. […] Another option for creation of a vagina is with the utilization of bowel. […] Once a normal vagina has been created a vaginal dilator may need to be worn in order to decrease the risk of circumferential scar tissue formation. Once corrected, a woman with agenesis of the lower vagina should have normal reproductive function and fertility.

• #31

  https://journals.lww.com/jhrs/fulltext/2019/12010/our_experience_in_the_management_of_vaginal.11.aspx

  Mullerian anomalies are of many types, and it is very difficult to classify them in a simple method and plan reconstructive surgery. […] The difficulties in the perception and interpretation of the surgical anatomy on magnetic resonance imaging can be minimized by placing a soft vaginal mold inside the lower developed vaginal segment in cases with transverse vaginal septum. […] The transverse vaginal septum is a rare condition which occurs due to a defect in vertical fusion during embryological development of the vagina. […] The MD agenesis can be effectively managed by correct clinical and radiological diagnostic evaluation of the underlying condition and associated congenital anomalies. […] The basic diagnostic investigation which decides the treatment option in the cases of MD agenesis along with other congenital urogenital anomaly are karyotyping and contrast MRI scan of abdomen and pelvis.

• #31

  https://journals.lww.com/jhrs/fulltext/2019/12010/our_experience_in_the_management_of_vaginal.11.aspx

  The perception and interpretation of the surgical anatomy and different diseases of the vagina can be definitely improved by various advanced radiological imaging techniques such as radiopaque coils and aqueous gel. […] The main purpose of management of MRKH syndrome is to create a neovagina for better sexual life and options for having children by adoption or gestational surrogacy along with good psychological support. […] The basic purpose of treatment of transverse vaginal septum is to treat infertility by excision or dilatation of complete or incompletely developed septum and achieve connection in between the lower end of cervix into the lower vagina. […] The choice of the surgical procedure for transverse vaginal septum is based on the expertise of the surgeon, level and nature of transverse septum, sociocultural belief to maintain the virginity of the patient by preserving intact hymen.

• #31

  https://journals.lww.com/jhrs/fulltext/2019/12010/our_experience_in_the_management_of_vaginal.11.aspx

  Better successful reconstructive surgical planning was done by understanding the level of septum in our single operated case of transverse vaginal septum, by placing a soft vaginal mold in the vagina during MRI scan. […] Here, the authors used it as aid during diagnostic radiology for better interpretation of the surgical anatomy of the transverse vaginal septum which helped in planning the reconstructive surgery.

• #32 Vaginal Agenesis Treatment in Turkey – Vaginoplasty Clinic

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

  Vaginal agenesis is caused by embryologic underdevelopment of the Mllerian duct, causing agenesis of the vagina, uterus or both. […] A girl can be born without a uterus due to a congenital condition called MRKH Syndrome in which the Mllerian duct is underdeveloped in the embryo, leading to absence of the vagina, uterus or both. […] 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. […] Vaginal agenesis is seen in 1 per 4500-5000 females.

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

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

  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. […] 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.

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

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

  Currently, the two most popular methods for creating a vagina in these cases are the nonsurgical Frank Procedure and the McIndoe split-thickness skin-graft vaginoplasty. […] The Frank technique was initially described in 1938. […] 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. […] Professional counseling of the patient and her parents should begin shortly after the abnormality is recognized.

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

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

  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 patient with a 46,XY karyotype may have additional questions about her sexual identity, and her parents may want to know what to tell her. […] The physician should answer gender questions honestly, noting that karyotype is only one aspect of sexual identity. […] It is essential for the physician and support staff to address the concerns of the patient and her parents from the time of diagnosis.

• #33 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. […] More than 90% of patients with vaginal agenesis fulfill the criteria for the Rokitansky-Kuster-Hauser syndrome-ie, 46,XX karyotype with normal, functioning ovaries. […] Approximately 7% to 8% of the remaining patients have a more unusual genetic abnormality and fulfill the criteria for testicular feminization (androgen insensitivity syndrome). […] In all of these patients, the external genitalia are essentially normal.

• #34 A rare variant of mullerian agenesis: a case report and review of the literature | Journal of Medical Case Reports | Full Text

  https://jmedicalcasereports.biomedcentral.com/articles/10.1186/s13256-024-04438-x

  The diagnosis of MRKH syndrome poses psychological distress for the patient. […] Treatment for MRKH syndrome normally includes progressive vaginal dilators, surgical creation of a neovagina, or other complex procedures and should be referred to specialized centers. […] Fertility options include adoption, surrogacy with the use of an ovum from the woman herself, or UT. […] Most of the cases are managed by a multidisciplinary team.

• #35

  https://link.springer.com/article/10.1007/BF00178541

  In a patient with vaginal agenesis reconstruction of the neovagina is very important both functionally and psychologically. […] The absent vagina can be constructed either by surgery or by an intermittent pressure technique defined by Frank. […] A follow-up study has been performed and biopsies were taken from this neovagina; these showed normal vaginal mucosa. […] Tarry WF, Duckett JW (1986) The Mayer-Rokitansky syndrome: pathogenesis, classification and management. J Urol 136:648.

• #36 Can a woman with vaginal agenesis have a normal sexual life?

  https://www.vaginoplastyturkey.com/en/blog/can-a-woman-with-vaginal-agenesis-have-a-normal-sexual-life

  If a woman is willing to have penetrative sexual intercourse, vaginal agenesis needs to be treated. […] There are mainly two treatment options for vaginal agenesis: Self dilation, Surgery to create a neovagina. […] The patients can use dilators to gradually enlarge and elongate a vaginal canal. […] It is a surgical technique used to create a new vagina. […] It is one of the most successful and minimally invasive techniques to create a new vagina. […] It is a laparoscopic surgery which uses a traction device. […] It is the most advanced surgical technique to create a neovagina, however it is the technique with the highest risk of complications. […] The recovery period after surgery is easier for laparoscopic techniques compared to bowel vaginoplasty which is an open surgery. […] Patients need to use a dilator after surgery for vaginoplasty. […] It is not possible for a sexual partner to understand that a woman had prior surgery for vaginal agenesis.

• #37

  https://link.springer.com/article/10.1007/s00192-013-2221-9

  The management of vaginal agenesis is currently determined by geographical location and surgeon preference. The optimal treatment is unknown and the majority of articles on technique and outcome focus on personal case series with little standardisation of reporting and follow-up. […] Overall, the conservative method using dilation had the fewest complications, with an average vaginal length of 6.65 cm (1.39 cm). However, with an operative procedure full consent is imperative, as is an understanding of the need for postoperative dilation with the majority of techniques.

• #38 Treatment Options For Women With Vaginal Agenesis – Specialty Surgical Center

  https://specialtysurgerycenter.org/treatment-options-for-women-with-vaginal-agenesis/

  Vaginal agenesis is a complex condition that causes the muscular canal (vagina) within the pelvis to not form properly during fetal development. […] While physicians and researchers are still working on techniques to successfully transplant a healthy uterus into patients with vaginal agenesis, current treatment options for this condition depend on the severity of the disorder itself. […] Generally speaking, treatment for vaginal agenesis includes: […] A vagina can be created using skin from the patients buttocks or artificial skin. […] A vagina can be created removing part of the lower colon and inserting in the place where the vaginal opening would be.

• #39 Mullerian Anomalies | MRKH Syndrome Treatment Mumbai | Vaginal Agenesis – Dr Jay Mehta

  https://www.shreeivfclinic.com/gynaecology/cosmetic-gynecology/vaginal-agenesis/

  A combination of these techniques along with proper placement of the graft in the form of INTERCEED, which is an OXIDIZED hemi cellulose graft, allows the patient to achieve a vaginal length of approximately 9 cm, allows to maintain excellent patency of the vagina and is excellent for the long term health of the vagina. […] In cases where a repeat surgery is required sigmoid vaginoplasty is the treatment of choice. […] The surgery should be performed as soon as the condition is diagnosed. There does not exist any form of alternative medical management to this condition as this is an anatomical defect. […] Since the last 7 years our team has been using INTERCEDE, which is a synthetic oxidized hemicellulose graft, this is used extensively in gynecology as well as in other surgery as an adhesion barrier.

• #40 What Is Vaginal Agenesis?

  https://www.virginiacenterforwomen.com/blog/458725-what-is-vaginal-agenesis

  Vaginal agenesis is a rare congenital condition that impacts the development of a babys reproductive system. As a result, a baby girl may be born without certain reproductive organs or a vagina. […] While the genetic cause is still unknown, research has found that 90 percent of children with Mayer-von Rokitansky-Kuster-Hausers Syndrome (MRKH) also have vaginal agenesis. This congenital disorder may vary from child to child. Some young girls may not have a vagina or uterus while other girls may have part of a uterus but no vagina. […] Despite this genetic abnormality, the patient is still considered female. […] While most patients with vaginal agenesis will not be able to carry a child, if they do have a uterus then they can become pregnant when they choose to have a family. […] Two of the most common treatment options for vaginal agenesis include, Self-dilation: Instead of turning to surgery to create a vagina, this device can be placed inside the vagina for hours a day to help stretch the skin and create a vagina.

• #41 What Is Vaginal Agenesis?

  https://www.nwawhcare.com/blog/301137-what-is-vaginal-agenesis/

  Vaginal agenesis is a rare congenital condition that impacts the development of a babys reproductive system. As a result, a baby girl may be born without certain reproductive organs or a vagina. […] While the genetic cause is still unknown, research has found that 90 percent of children with Mayer-von Rokitansky-Kuster-Hausers Syndrome (MRKH) also have vaginal agenesis. This congenital disorder may vary from child to child. Some young girls may not have a vagina or uterus while other girls may have part of a uterus but no vagina. […] While most patients with vaginal agenesis will not be able to carry a child, if they do have a uterus then they can become pregnant when they choose to have a family. This is something that your OBGYN can discuss once the patient becomes an adult.

• #42 Müllerian Agenesis: Room for Improvement in Care, Counseling – Research Horizons

  https://scienceblog.cincinnatichildrens.org/mullerian-agenesis-room-for-improvement-in-care-counseling/

  Müllerian agenesis, also known as Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, is a congenital condition that results in underdevelopment of the uterus, cervix and upper two-thirds of the vagina. MRKH affects 1 in 5,000 individuals assigned female sex at birth. This condition results in infertility and can have a significant psychosocial impact. The condition also results in a shortened vaginal canal. Individuals with MRKH are often diagnosed by and seek care from gynecologists. This care can include lengthening of the vaginal canal through dilation and surgery when indicated. […] Overall, 616 individuals with Müllerian agenesis from 40 countries responded to an in-depth survey about their experiences. Of the respondents, 54% received one or more vaginal lengthening treatments. The most common treatments were dilator use (72%), coital dilation (34%) and surgery (39%). Notably, 46% of the respondents reported seeking no vaginal lengthening treatment. This varied by geography, with 59% of respondents in North America and Europe reporting treatments compared to 16% among women from Africa, Asia and South America. Shared themes showed both positive and challenging aspects of vaginal lengthening including difficult physical symptoms, practical and psychosocial challenges, intimate relationships and sexual satisfaction, and impact of experiences with healthcare providers. […] “Our findings show room for improvement in the counseling and care of individuals with MRKH, particularly around vaginal lengthening,” Pennesi says. “There is a need to educate healthcare providers so they can support patients in accessing appropriate, comprehensive and longitudinal care.”

• #43 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. […] The exact cause of the genetic condition is still not known, however, many congenital (present from birth) factors can lead to vaginal agenesis. […] In around 90% of vaginal agenesis cases, the individual will have MRKH syndrome. […] However, due to MRKH and the underdevelopment of the Mllerian ducts, both the vagina and the womb are either partially or completely absent. […] Vaginal agenesis can have an impact on the sexual relationship of an individual, causing them to have a lot of pain and discomfort during sex. […] Currently, vaginal dilators and surgery are the best options for patients, however, research on treatment can be improved as there are various disadvantages to the surgeries.

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