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. […] 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.

• #2 Internet Scientific Publications

  https://ispub.com/IJGO/15/1/9475

  Mllerian agenesis is a congenital malformation in women. It is characterized by a failure of the Mllerian ducts to develop, which results in a missing uterus and variable malformations of the vagina. […] Mllerian agenesis has been considered as a sporadic anomaly, but the increase in familial cases now supports the hypothesis of a genetic cause. It is transmitted as an autosomal dominant trait with incomplete penetrance and variable expressivity. […] It is reported to occur as a case in 4000-10,000 live female births. It is the second most common cause of primary amenorrhea. […] Mllerian agenesis is a rare condition being the second most common cause for primary amenorrhea. Mllerian agenesis is the cause for 15% of the cases of primary amenorrhea. […] There are several treatment options to treat Mllerian agenesis. Primarily, it is important that the patient and family undergo counselling so as to educate the patient and motivate them for treatment. […] The non surgical creation of a neovagina with the help of prosthetic vaginal dilators is usually the first line of treatment if suitable. […] Over the years various studies have shown success in patients with MRKH syndrome being treated by the non surgical approach.

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

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

  Vaginal agenesis may have these features: […] 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.

• #4

  https://www.amerikanhastanesi.org/mayo-clinic-care-network/mayo-clinic-health-information-library/diseases-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.

• #5 Vaginal agenesis // Middlesex Health

  https://middlesexhealth.org/learning-center/diseases-and-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. […] 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

  http://www.ask-ahd.ahdubai.com/con-20253613

  Vaginal agenesis (a-JEN-uh-sis) is a rare disorder that occurs when 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. Scientists think that at some point during the first 20 weeks of pregnancy, tubes called the mullerian ducts don’t develop properly. Normally, one of these ducts develops into the uterus and vagina, and the other grows into fallopian tubes.

• #7 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.

• #8 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. […] 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.

• #9 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 is second only to gonadal dysgenesis in terms of causes of primary amenorrhea, meaning it must be high on our differential diagnosis.

• #10 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). […] Causes: 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. […] Genetics: No genetic pattern (accident of development), although in some inbred communities there is a suggestion that an autosomal recessive gene is present.

• #11 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). […] Causes: 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. […] Genetics: No genetic pattern (accident of development), although in some inbred communities there is a suggestion that an autosomal recessive gene is present.

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

  https://emedicine.medscape.com/article/273534-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-Kuster-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. […] Mllerian agenesis has been associated with variants of the galactose-1-phosphate uridyltransferase (GALT) enzyme; this finding suggests that increased exposure to galactose is responsible for abnormal vaginal development.

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

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

  Mllerian agenesis, also termed mllerian 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-Kster-Hauser (MRKH) syndrome, when it occurs in its most extreme form, both uterine and vaginal aplasia. […] The etiology of mllerian 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. […] Mllerian agenesis has been associated with variants of the galactose-1-phosphate uridyltransferase (GALT) enzyme; this finding suggests that increased exposure to galactose is responsible for abnormal vaginal development.

• #14 Müllerian agenesis – Wikipedia

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

  Mllerian agenesis, also known as Mllerian aplasia, vaginal agenesis, or MayerRokitanskyKsterHauser syndrome (MRKH syndrome), 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 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. […] The etiology of Mllerian agenesis in many cases remains elusive. […] However, mutations in a variety of different genes have been implicated in causing MRKH syndrome.

• #15 Internet Scientific Publications

  https://ispub.com/IJGO/15/1/9475

  Mllerian agenesis is a congenital malformation in women. It is characterized by a failure of the Mllerian ducts to develop, which results in a missing uterus and variable malformations of the vagina. […] Mllerian agenesis has been considered as a sporadic anomaly, but the increase in familial cases now supports the hypothesis of a genetic cause. It is transmitted as an autosomal dominant trait with incomplete penetrance and variable expressivity. […] It is reported to occur as a case in 4000-10,000 live female births. It is the second most common cause of primary amenorrhea. […] Mllerian agenesis is a rare condition being the second most common cause for primary amenorrhea. Mllerian agenesis is the cause for 15% of the cases of primary amenorrhea. […] There are several treatment options to treat Mllerian agenesis. Primarily, it is important that the patient and family undergo counselling so as to educate the patient and motivate them for treatment. […] The non surgical creation of a neovagina with the help of prosthetic vaginal dilators is usually the first line of treatment if suitable. […] Over the years various studies have shown success in patients with MRKH syndrome being treated by the non surgical approach.

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

  https://emedicine.medscape.com/article/273534-overview

  However, analysis of the gene encoding GALT failed to reveal any mutations or polymorphisms associated with mullerian aplasia. […] Other authorities have speculated that mutations in either the antimullerian hormone or mullerian inhibitory substance (MIS) gene or its receptor gene are responsible for this disorder. […] A loss-of-function mutation in the WNT4 gene was identified in an 18-year old woman with MRKH syndrome, unilateral renal agenesis, and androgen excess with virilization. The WNT4 gene encodes for a secreted protein that suppresses male sexual differentiation. […] Early developmental control genes, homeobox HOXA9- HOXA13 and their DNA-binding transcription factors, have also been considered candidate genes involved in human mullerian aplasia based on similar phenotypes identified in mutant mice.

• #17 Müllerian agenesis – Wikipedia

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

  The typical and atypical forms of the disorder are presumably caused by mutations in different genes. […] WNT4 has been clearly implicated in the atypical version of this disorder. […] An association with 17q12 microdeletion syndrome, a deletion mutation in the long arm (q) of chromosome 17, has been reported.

• #18 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. Genetic counseling and testing may be recommended to identify possible hereditary factors in women with this disorder. […] The main causes are genetic abnormalities, mutations in certain genes and exposure to teratogens during pregnancy.

• #19 Identification of Genetic Causes in Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome: A Systematic Review of the Literature

  https://www.mdpi.com/2227-9067/9/7/961

  Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a congenital condition characterizing females with absence of the uterus and part of the vagina. Several genetic defects have been correlated with the presence of MRKH; however, the exact etiology is still unknown due to the complexity of the genetic pathways implicated during the embryogenetic development of the Müllerian ducts. […] The most reported chromosomal regions and the possible genes implicated were: 1q21.1 (RBM8A gene), 1p31-1p35 (WNT4 gene), 7p15.3 (HOXA gene), 16p11 (TBX6 gene), 17q12 (LHX1 and HNF1B genes), 22q11.21, and Xp22. […] Despite the myriad of sporadic gene variants found through our search, we have identified a recurring pattern of affected chromosomal locations. Most reported chromosomal regions with their most implicated genes are: 1q21.1 (RBM8A gene), 1p31-1p35 (WNT4 gene), 7p15.3(HOXA gene), 16p11 (TBX6 gene), 17q12 (LHX1 and HNF1B genes), 22q11.21, and Xp22.

• #20 Identification of Genetic Causes in Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome: A Systematic Review of the Literature

  https://www.mdpi.com/2227-9067/9/7/961

  The genetic causes of MRKH syndrome remain elusive. Although some cases are familial, most cases are sporadic. In this study, we summarized and analyzed the most frequently reported genetic defects associated with MRKH syndrome in the available literature. The most reported chromosomal regions and the possible genes implicated are 1q21.1 (RBM8A gene), 1p31-1p35 (WNT4 gene), 7p15.3 (HOXA gene), 16p11 (TBX6 gene), 17q12 (LHX1 and HNF1B genes), 22q11.21, and Xp22.

• #21 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 part of the vagina during fetal development. […] A baby that has been born with vaginal atresia most often has one of the following syndromes: […] Vaginal atresia occurs when the urogenital sinus fails to form the lower portion of the vagina. […] The condition usually occurs as a result of the following syndromes: Bardet-Biedl syndrome, Fraser syndrome, Mayer-Rokitansky-Kster-Hauser syndrome (MRKH). […] Although research has supported the theory that MRKH is a genetic condition, it has not yet identified which genetic changes cause its development. […] Fraser syndrome occurs due to changes to the FRAS1, FREM1, FREM2, or GRIP1 genes, which play a role in skin development and placement.

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

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

  However, analysis of the gene encoding GALT failed to reveal any mutations or polymorphisms associated with mllerian aplasia. […] Other authorities have speculated that mutations in either the antimllerian hormone or mllerian inhibitory substance (MIS) gene or its receptor gene are responsible for this disorder. […] A loss-of-function mutation in the WNT4 gene was identified in an 18-year old woman with MRKH syndrome, unilateral renal agenesis, and androgen excess with virilization. The WNT4 gene encodes for a secreted protein that suppresses male sexual differentiation. […] Early developmental control genes, homeobox HOXA9- HOXA13 and their DNA-binding transcription factors, have also been considered candidate genes involved in human mllerian aplasia based on similar phenotypes identified in mutant mice. […] However, no definitive defects have been identified in these genes that account for human mllerian aplasia.

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

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

  Mllerian agenesis, also termed mllerian 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-Kster-Hauser (MRKH) syndrome, when it occurs in its most extreme form, both uterine and vaginal aplasia. […] The etiology of mllerian 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. […] Mllerian agenesis has been associated with variants of the galactose-1-phosphate uridyltransferase (GALT) enzyme; this finding suggests that increased exposure to galactose is responsible for abnormal vaginal development.

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

  https://emedicine.medscape.com/article/273534-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-Kuster-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. […] Mllerian agenesis has been associated with variants of the galactose-1-phosphate uridyltransferase (GALT) enzyme; this finding suggests that increased exposure to galactose is responsible for abnormal vaginal development.

• #25 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. […] 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. […] There are no known risk factors for vaginal agenesis. […] It’s important to understand that if your daughter has MRKH, she has a karyotype of 46 XX, meaning she is genetically female.

• #26 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. Mllerian agenesis is caused by embryologic underdevelopment of the mllerian duct, with resultant agenesis or atresia of the vagina, uterus, or both. […] 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. […] Karyotype evaluation of patients with mllerian agenesis will be 46, XX in most individuals. Given the heterogeneity of mllerian agenesis, it is not surprising that there have been several karyotype rearrangement abnormalities reported, including duplications and deletions, as well as individual gene mutations such as the WNT4 and WNT9 genes.

• #27 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. Mllerian agenesis is caused by embryologic underdevelopment of the mllerian duct, with resultant agenesis or atresia of the vagina, uterus, or both. […] 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. […] Karyotype evaluation of patients with mllerian agenesis will be 46, XX in most individuals. Given the heterogeneity of mllerian agenesis, it is not surprising that there have been several karyotype rearrangement abnormalities reported, including duplications and deletions, as well as individual gene mutations such as the WNT4 and WNT9 genes.

• #28 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.

• #29 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. […] 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, such as 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.

• #30 Vaginal Agenesis Turkey – Dr. Burcu Karamürsel

  https://www.burcukaramursel.com/en/vaginal-agenesis

  Vaginal agenesis is a condition in which a girl is born without a vagina. […] Some of the conditions associated with vaginal agenesis may be inheritable. Other cases may be caused by exposure to environmental teratogens exposed in utero. […] A girl can be born without a uterus and/or vagina due to some genetic conditions or exposure to environmental teratogens inside the uterus.

• #31 Vaginal Agenesis- Causes, Symptoms and Treatment – Best Fertility Centre in Chennai

  https://aakashfertilitycentre.in/vaginal-agenesis-causes-symptoms-and-treatment/

  Vaginal agenesis is believed to have a genetic basis, although specific genes responsible have not been identified. […] Disruptions in fetal hormonal signaling during development can contribute to abnormal formation or absence of the vagina. […] External factors such as exposure to certain toxins or medications during pregnancy may increase the risk of vaginal agenesis. […] Vaginal agenesis may be linked to other congenital anomalies, such as kidney abnormalities, suggesting a broader developmental disorder.

• #32 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. […] 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. […] Originally, researchers suspected that MRKH syndrome was caused by environmental factors during pregnancy, such as medication or maternal illness. However, subsequent studies have not identified a clear association between MRKH syndrome and any specific environmental factors. Researchers now suggest that genetic and environmental factors together contribute to the development of MRKH syndrome, although the specific factors are often unknown.

• #33 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. […] 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. […] Originally, researchers suspected that MRKH syndrome was caused by environmental factors during pregnancy, such as medication or maternal illness. However, subsequent studies have not identified a clear association between MRKH syndrome and any specific environmental factors. Researchers now suggest that genetic and environmental factors together contribute to the development of MRKH syndrome, although the specific factors are often unknown.

• #34 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. […] 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. […] There are no known risk factors for vaginal agenesis. […] It’s important to understand that if your daughter has MRKH, she has a karyotype of 46 XX, meaning she is genetically female.

• #35 Vaginal Agenesis | Texas Children’s

  https://www.texaschildrens.org/content/conditions/vaginal-agenesis

  Vaginal agenesis occurs when a girl is born without a vagina. […] Vaginal agenesis is a congenital disorder, meaning it is present at birth. It occurs when the baby’s reproductive system fails to develop fully in the womb. Other reproductive organs may also be missing or smaller than usual. The cause of this abnormal fetal development is not yet known. […] Vaginal agenesis may be one symptom of a broader condition involving several abnormalities of the reproductive system. These conditions include: Mayer-von Rokitansky-Küster-Hauser’s Syndrome (MRKH) – a condition that causes the vagina and uterus to be absent or underdeveloped, as well as other abnormalities […] MURCS association – a condition that includes MRKH syndrome abnormalities as well as several others, including spine abnormalities, short stature and kidney defects […] Complete androgen sensitivity syndrome (AIS) – a condition in which patients have a normal female appearance, but lack a vagina, cervix, uterus, fallopian tubes and ovaries […] Mixed Gonadal Dysgenesis.

• #36 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 is second only to gonadal dysgenesis in terms of causes of primary amenorrhea, meaning it must be high on our differential diagnosis.

• #37 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. Depending on the type and severity of the syndrome, there may also be other abnormalities in the cervix, spine and limbs. Hearing problems and heart and kidney abnormalities can also occur. […] 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.

• #38 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. […] There are no known risk factors for vaginal agenesis. It may be one symptom of a broader condition involving the reproductive system. These conditions include: […] Mayer-von Rokitansky-Küster-Hauser syndrome (MRKH): 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. […] Androgen insensitivity syndrome (AIS): 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.

• #39 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. […] 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. […] There are no known risk factors for vaginal agenesis. […] It’s important to understand that if your daughter has MRKH, she has a karyotype of 46 XX, meaning she is genetically female.

• #40 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. […] 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. […] Originally, researchers suspected that MRKH syndrome was caused by environmental factors during pregnancy, such as medication or maternal illness. However, subsequent studies have not identified a clear association between MRKH syndrome and any specific environmental factors. Researchers now suggest that genetic and environmental factors together contribute to the development of MRKH syndrome, although the specific factors are often unknown.

• #41 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. […] 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. […] There are no known risk factors for vaginal agenesis. […] It’s important to understand that if your daughter has MRKH, she has a karyotype of 46 XX, meaning she is genetically female.

• #42 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. Depending on the type and severity of the syndrome, there may also be other abnormalities in the cervix, spine and limbs. Hearing problems and heart and kidney abnormalities can also occur. […] 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.

• #43 Vaginal Agenesis | Texas Children’s

  https://www.texaschildrens.org/content/conditions/vaginal-agenesis

  Vaginal agenesis occurs when a girl is born without a vagina. […] Vaginal agenesis is a congenital disorder, meaning it is present at birth. It occurs when the baby’s reproductive system fails to develop fully in the womb. Other reproductive organs may also be missing or smaller than usual. The cause of this abnormal fetal development is not yet known. […] Vaginal agenesis may be one symptom of a broader condition involving several abnormalities of the reproductive system. These conditions include: Mayer-von Rokitansky-Küster-Hauser’s Syndrome (MRKH) – a condition that causes the vagina and uterus to be absent or underdeveloped, as well as other abnormalities […] MURCS association – a condition that includes MRKH syndrome abnormalities as well as several others, including spine abnormalities, short stature and kidney defects […] Complete androgen sensitivity syndrome (AIS) – a condition in which patients have a normal female appearance, but lack a vagina, cervix, uterus, fallopian tubes and ovaries […] Mixed Gonadal Dysgenesis.

• #44 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.

• #45 Vaginal Agenesis | Texas Children’s

  https://www.texaschildrens.org/content/conditions/vaginal-agenesis

  Vaginal agenesis occurs when a girl is born without a vagina. […] Vaginal agenesis is a congenital disorder, meaning it is present at birth. It occurs when the baby’s reproductive system fails to develop fully in the womb. Other reproductive organs may also be missing or smaller than usual. The cause of this abnormal fetal development is not yet known. […] Vaginal agenesis may be one symptom of a broader condition involving several abnormalities of the reproductive system. These conditions include: Mayer-von Rokitansky-Küster-Hauser’s Syndrome (MRKH) – a condition that causes the vagina and uterus to be absent or underdeveloped, as well as other abnormalities […] MURCS association – a condition that includes MRKH syndrome abnormalities as well as several others, including spine abnormalities, short stature and kidney defects […] Complete androgen sensitivity syndrome (AIS) – a condition in which patients have a normal female appearance, but lack a vagina, cervix, uterus, fallopian tubes and ovaries […] Mixed Gonadal Dysgenesis.

• #46 Uterine Agenesis MRKH-MURCS | Texas Children’s

  https://www.texaschildrens.org/content/conditions/uterine-agenesis-mrkh-murcs

  Uterine agenesis is a congenital disorder, meaning it is present at birth. It occurs when the baby’s reproductive system fails to develop fully in the womb. Other reproductive organs may also be missing or smaller than usual. […] The cause of this abnormal development is not yet known. […] Uterine agenesis is typically one symptom of a broader condition involving several abnormalities of the reproductive system. These conditions include: Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome, a disorder in which the uterus and vagina are absent or underdeveloped, in addition to other abnormalities; MURCS association – includes MRKH symptoms, spine abnormalities, short stature, kidney defects, and other symptoms; Androgen sensitivity syndrome (AIS) – a condition in which patients have a normal female appearance outwardly, but internally they lack the female reproductive organs.

• #47 Vaginal Agenesis: Causes, Symptoms And Treatment

  https://www.netmeds.com/health-library/post/vaginal-agenesis-causes-symptoms-and-treatment?srsltid=AfmBOoq7I23L7XADi-o85LNDMqJuJIfmahwJQGlpEdUhi4U3RY09A4Zv

  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. […] 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. It is due to the underdevelopment of the Mullerian ducts that results in an absent or partially closed vagina, uterus, or both.

• #48 What Is Vaginal Atresia?

  https://www.icliniq.com/articles/womens-health/vaginal-atresia

  Vaginal atresia is a rare congenital defect occurring when the lower portion of the vagina is not fully developed. […] The exact cause of vaginal asteria is unknown, but many different congenital conditions and syndromes are known to cause vaginal agenesis. The most common syndrome that causes vaginal agenesis is Mayer-Rokitansky-Kster-Hauser syndrome (MRKH), Bardet-Biedl syndrome (BBS), and Fraser syndrome. […] Generally, the lower part of the vagina develops from the urogenital sinus. It is a body part present during the development of the urinary and reproductive organs. So, when the urogenital sinus fails to develop into the lower portion of the vagina, vaginal atresia occurs.

• #49 Vaginal Agenesis: Causes, Symptoms And Treatment

  https://www.netmeds.com/health-library/post/vaginal-agenesis-causes-symptoms-and-treatment?srsltid=AfmBOoq7I23L7XADi-o85LNDMqJuJIfmahwJQGlpEdUhi4U3RY09A4Zv

  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. […] 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. It is due to the underdevelopment of the Mullerian ducts that results in an absent or partially closed vagina, uterus, or both.

• #50 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 part of the vagina during fetal development. […] A baby that has been born with vaginal atresia most often has one of the following syndromes: […] Vaginal atresia occurs when the urogenital sinus fails to form the lower portion of the vagina. […] The condition usually occurs as a result of the following syndromes: Bardet-Biedl syndrome, Fraser syndrome, Mayer-Rokitansky-Kster-Hauser syndrome (MRKH). […] Although research has supported the theory that MRKH is a genetic condition, it has not yet identified which genetic changes cause its development. […] Fraser syndrome occurs due to changes to the FRAS1, FREM1, FREM2, or GRIP1 genes, which play a role in skin development and placement.

• #51 Vaginal Agenesis | Texas Children’s

  https://www.texaschildrens.org/content/conditions/vaginal-agenesis

  Vaginal agenesis occurs when a girl is born without a vagina. […] Vaginal agenesis is a congenital disorder, meaning it is present at birth. It occurs when the baby’s reproductive system fails to develop fully in the womb. Other reproductive organs may also be missing or smaller than usual. The cause of this abnormal fetal development is not yet known. […] Vaginal agenesis may be one symptom of a broader condition involving several abnormalities of the reproductive system. These conditions include: Mayer-von Rokitansky-Küster-Hauser’s Syndrome (MRKH) – a condition that causes the vagina and uterus to be absent or underdeveloped, as well as other abnormalities […] MURCS association – a condition that includes MRKH syndrome abnormalities as well as several others, including spine abnormalities, short stature and kidney defects […] Complete androgen sensitivity syndrome (AIS) – a condition in which patients have a normal female appearance, but lack a vagina, cervix, uterus, fallopian tubes and ovaries […] Mixed Gonadal Dysgenesis.

• #52 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. […] 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. […] People with mllerian agenesis do not have a uterus so they can only get pregnant by a very sophisticated method called uterine transplantation which is an experimental method applied only in special centers in the world. […] Women with MRKH have ovaries and the eggs will be expelled into the abdominal cavity during ovulation, the same way as in other patients who have a uterus. The difference is that the eggs will not be able form an embryo in the fallopian tube, and there is no uterus for an embryo to be implanted.

• #53 Vaginal atresia | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/vaginal-atresia?lang=us

  Vaginal atresia refers to a spectrum of anomalies comprising of failure to form a part or all of the vagina. […] It is considered the second most common cause of primary amenorrhea. The estimated Incidence is at ~ 2 in 10000 women. […] Mayer-Rokitansky-Kuster-Hauser syndrome – with upper vagina atresia. […] McKusick-Kaufman syndrome.

• #54 Vaginal Agenesis- Causes, Symptoms and Treatment – Best Fertility Centre in Chennai

  https://aakashfertilitycentre.in/vaginal-agenesis-causes-symptoms-and-treatment/

  Vaginal agenesis is believed to have a genetic basis, although specific genes responsible have not been identified. […] Disruptions in fetal hormonal signaling during development can contribute to abnormal formation or absence of the vagina. […] External factors such as exposure to certain toxins or medications during pregnancy may increase the risk of vaginal agenesis. […] Vaginal agenesis may be linked to other congenital anomalies, such as kidney abnormalities, suggesting a broader developmental disorder.

• #55 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. Mllerian agenesis is caused by embryologic underdevelopment of the mllerian duct, with resultant agenesis or atresia of the vagina, uterus, or both. […] 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. […] Karyotype evaluation of patients with mllerian agenesis will be 46, XX in most individuals. Given the heterogeneity of mllerian agenesis, it is not surprising that there have been several karyotype rearrangement abnormalities reported, including duplications and deletions, as well as individual gene mutations such as the WNT4 and WNT9 genes.

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

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

  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.

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

  https://emedicine.medscape.com/article/273534-overview

  However, analysis of the gene encoding GALT failed to reveal any mutations or polymorphisms associated with mullerian aplasia. […] Other authorities have speculated that mutations in either the antimullerian hormone or mullerian inhibitory substance (MIS) gene or its receptor gene are responsible for this disorder. […] A loss-of-function mutation in the WNT4 gene was identified in an 18-year old woman with MRKH syndrome, unilateral renal agenesis, and androgen excess with virilization. The WNT4 gene encodes for a secreted protein that suppresses male sexual differentiation. […] Early developmental control genes, homeobox HOXA9- HOXA13 and their DNA-binding transcription factors, have also been considered candidate genes involved in human mullerian aplasia based on similar phenotypes identified in mutant mice.

• #58 Vaginal Agenesis – a congenital defect | GAURI – Urogynecology Clinic

  https://urogynecology.in/vaginal-agenesis-a-congenital-defect/

  Vaginal Agenesis is a congenital (by birth) defect where in the baby will have an under developed vagina and in rare case, the baby may not have vagina at all. In such babies, other problems may also be found such as absence of a kidney or both or the kidneys may be joined together. […] Vaginal Agenesis is also known as ‘Mullerian Aplasia’ or ‘Mayer – Rokintansky – Kuster – Hauser (MRKH) Syndrome’. […] The exact answer for what causes vaginal agenesis is not known but our medical experts only know that if the ‘Mullerian’ ducts don’t develop during the first 20 weeks of pregnancy, it can lead to Vaginal Agenesis. Typically, in normal girl babies, one Mullerian duct develops into vagina and uterus and the other grows into fallopian tubes. […] What causes the Mullerian ducts not to form – answer is still not known.

• #59 Female Genital Birth Defects – Children’s Health Issues – Merck Manual Consumer Version

  https://www.merckmanuals.com/home/children-s-health-issues/birth-defects-of-the-urinary-tract-and-genitals/female-genital-birth-defects

  Genital birth defects may be caused by abnormal levels of sex hormones during fetal development, chromosome abnormalities, environmental factors, or inherited factors. […] There are several factors that cause female genital birth defects, but most involve abnormal levels of sex hormones in the fetus before birth, particularly having too much testosterone (or testosterone-like substances). […] Other factors that can interfere with normal development of the genitals include sex chromosome abnormalities, abnormal or missing genes (the DNA code of instructions for how the body works), and exposure of the fetus to substances, such as certain medications, drugs, and hormones, that interfere with genital development. […] During pregnancy, the internal reproductive system of a female fetus may not fully develop. A female infant may be born without a vagina or with a partially formed vagina (the lower vagina forms, but the upper vagina is missing). Sometimes other internal reproductive organs, such as the cervix and uterus, may also not develop. These conditions are called vaginal agenesis, mullerian agenesis, or Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome. […] Girls who have vaginal agenesis also may have kidney abnormalities. For example, they may be missing a kidney. They may also have problems with bones or abdominal wall abnormalities.

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

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

  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.

• #61 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. Depending on the type and severity of the syndrome, there may also be other abnormalities in the cervix, spine and limbs. Hearing problems and heart and kidney abnormalities can also occur. […] 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.

• #62 Vaginal Agenesis | Texas Children’s

  https://www.texaschildrens.org/content/conditions/vaginal-agenesis

  Vaginal agenesis occurs when a girl is born without a vagina. […] Vaginal agenesis is a congenital disorder, meaning it is present at birth. It occurs when the baby’s reproductive system fails to develop fully in the womb. Other reproductive organs may also be missing or smaller than usual. The cause of this abnormal fetal development is not yet known. […] Vaginal agenesis may be one symptom of a broader condition involving several abnormalities of the reproductive system. These conditions include: Mayer-von Rokitansky-Küster-Hauser’s Syndrome (MRKH) – a condition that causes the vagina and uterus to be absent or underdeveloped, as well as other abnormalities […] MURCS association – a condition that includes MRKH syndrome abnormalities as well as several others, including spine abnormalities, short stature and kidney defects […] Complete androgen sensitivity syndrome (AIS) – a condition in which patients have a normal female appearance, but lack a vagina, cervix, uterus, fallopian tubes and ovaries […] Mixed Gonadal Dysgenesis.

• #63 Vaginal Agenesis | Texas Children’s

  https://www.texaschildrens.org/content/conditions/vaginal-agenesis

  Vaginal agenesis occurs when a girl is born without a vagina. […] Vaginal agenesis is a congenital disorder, meaning it is present at birth. It occurs when the baby’s reproductive system fails to develop fully in the womb. Other reproductive organs may also be missing or smaller than usual. The cause of this abnormal fetal development is not yet known. […] Vaginal agenesis may be one symptom of a broader condition involving several abnormalities of the reproductive system. These conditions include: Mayer-von Rokitansky-Küster-Hauser’s Syndrome (MRKH) – a condition that causes the vagina and uterus to be absent or underdeveloped, as well as other abnormalities […] MURCS association – a condition that includes MRKH syndrome abnormalities as well as several others, including spine abnormalities, short stature and kidney defects […] Complete androgen sensitivity syndrome (AIS) – a condition in which patients have a normal female appearance, but lack a vagina, cervix, uterus, fallopian tubes and ovaries […] Mixed Gonadal Dysgenesis.

• #64 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. Depending on the type and severity of the syndrome, there may also be other abnormalities in the cervix, spine and limbs. Hearing problems and heart and kidney abnormalities can also occur. […] 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.

• #65 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. Depending on the type and severity of the syndrome, there may also be other abnormalities in the cervix, spine and limbs. Hearing problems and heart and kidney abnormalities can also occur. […] 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.

• #66 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. These include: Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome, Androgen insensitivity syndrome (AIS). […] Complications associated with Vaginal Agenesis include kidney and urinary tract problems, congenital heart conditions, difficulty conceiving, and sexual and psychological issues.

• #67 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. Depending on the type and severity of the syndrome, there may also be other abnormalities in the cervix, spine and limbs. Hearing problems and heart and kidney abnormalities can also occur. […] 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.

• #68 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. […] There are no known risk factors for vaginal agenesis. It may be one symptom of a broader condition involving the reproductive system. These conditions include: […] Mayer-von Rokitansky-Küster-Hauser syndrome (MRKH): 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. […] Androgen insensitivity syndrome (AIS): 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.

• #69 Female Genital Birth Defects – Children’s Health Issues – Merck Manual Consumer Version

  https://www.merckmanuals.com/home/children-s-health-issues/birth-defects-of-the-urinary-tract-and-genitals/female-genital-birth-defects

  Genital birth defects may be caused by abnormal levels of sex hormones during fetal development, chromosome abnormalities, environmental factors, or inherited factors. […] There are several factors that cause female genital birth defects, but most involve abnormal levels of sex hormones in the fetus before birth, particularly having too much testosterone (or testosterone-like substances). […] Other factors that can interfere with normal development of the genitals include sex chromosome abnormalities, abnormal or missing genes (the DNA code of instructions for how the body works), and exposure of the fetus to substances, such as certain medications, drugs, and hormones, that interfere with genital development. […] During pregnancy, the internal reproductive system of a female fetus may not fully develop. A female infant may be born without a vagina or with a partially formed vagina (the lower vagina forms, but the upper vagina is missing). Sometimes other internal reproductive organs, such as the cervix and uterus, may also not develop. These conditions are called vaginal agenesis, mullerian agenesis, or Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome. […] Girls who have vaginal agenesis also may have kidney abnormalities. For example, they may be missing a kidney. They may also have problems with bones or abdominal wall abnormalities.

• #70 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. […] 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.

• #71 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. These include: Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome, Androgen insensitivity syndrome (AIS). […] Complications associated with Vaginal Agenesis include kidney and urinary tract problems, congenital heart conditions, difficulty conceiving, and sexual and psychological issues.

• #72 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 is second only to gonadal dysgenesis in terms of causes of primary amenorrhea, meaning it must be high on our differential diagnosis.

• #73 Internet Scientific Publications

  https://ispub.com/IJGO/15/1/9475

  Mllerian agenesis is a congenital malformation in women. It is characterized by a failure of the Mllerian ducts to develop, which results in a missing uterus and variable malformations of the vagina. […] Mllerian agenesis has been considered as a sporadic anomaly, but the increase in familial cases now supports the hypothesis of a genetic cause. It is transmitted as an autosomal dominant trait with incomplete penetrance and variable expressivity. […] It is reported to occur as a case in 4000-10,000 live female births. It is the second most common cause of primary amenorrhea. […] Mllerian agenesis is a rare condition being the second most common cause for primary amenorrhea. Mllerian agenesis is the cause for 15% of the cases of primary amenorrhea. […] There are several treatment options to treat Mllerian agenesis. Primarily, it is important that the patient and family undergo counselling so as to educate the patient and motivate them for treatment. […] The non surgical creation of a neovagina with the help of prosthetic vaginal dilators is usually the first line of treatment if suitable. […] Over the years various studies have shown success in patients with MRKH syndrome being treated by the non surgical approach.

• #74 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. These include: Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome, Androgen insensitivity syndrome (AIS). […] Complications associated with Vaginal Agenesis include kidney and urinary tract problems, congenital heart conditions, difficulty conceiving, and sexual and psychological issues.

• #75 MRKH Syndrome in Children | Children’s Hospital Colorado

  https://www.childrenscolorado.org/conditions-and-advice/conditions-and-symptoms/conditions/mayer-rokitansky-kuster-hauser-syndrome/

  Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome, also known as vaginal agenesis, is a disorder affecting females that is congenital, meaning that it is present at birth. […] Doctors dont know exactly what causes MRKH. Some think there might be a genetic cause, but this hasnt been proven yet. MRKH is not believed to be caused by anything the mother did or didnt do during the pregnancy. […] A very small uterus with endometrial lining can cause pain and lead to endometriosis. Endometriosis is a condition that causes the lining inside the uterus to grow outside of the uterus.

• #76 Vaginal Agenesis | Nationwide Children’s Hospital

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

  Agenesis is a medical word that means a body part never formed before birth. The term vaginal agenesis means that the female does not have a vagina (or birth canal) because it never formed. It is considered a birth defect. In most cases of vaginal agenesis, the cause is not known. Researchers continue to try to find the cause. In rare cases, a genetic mutation can cause vaginal agenesis. […] Most females with vaginal agenesis do not have a uterus and cannot carry a pregnancy. Since they do have ovaries, their eggs can be used for pregnancy carried by another woman (called surrogacy). Another more recent alternative, uterus transplant, has been performed for these young women. This allows them to carry their own child in the transplanted uterus.

• #77 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.

• #78 Vaginal Agenesis | Nationwide Children’s Hospital

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

  Agenesis is a medical word that means a body part never formed before birth. The term vaginal agenesis means that the female does not have a vagina (or birth canal) because it never formed. It is considered a birth defect. In most cases of vaginal agenesis, the cause is not known. Researchers continue to try to find the cause. In rare cases, a genetic mutation can cause vaginal agenesis. […] Most females with vaginal agenesis do not have a uterus and cannot carry a pregnancy. Since they do have ovaries, their eggs can be used for pregnancy carried by another woman (called surrogacy). Another more recent alternative, uterus transplant, has been performed for these young women. This allows them to carry their own child in the transplanted uterus.

• #79 What Is Vaginal Agenesis?

  https://www.firstcoastobgyn.com/blog/301136-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.

• #80 Vaginal Agenesis | Nationwide Children’s Hospital

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

  Agenesis is a medical word that means a body part never formed before birth. The term vaginal agenesis means that the female does not have a vagina (or birth canal) because it never formed. It is considered a birth defect. In most cases of vaginal agenesis, the cause is not known. Researchers continue to try to find the cause. In rare cases, a genetic mutation can cause vaginal agenesis. […] Most females with vaginal agenesis do not have a uterus and cannot carry a pregnancy. Since they do have ovaries, their eggs can be used for pregnancy carried by another woman (called surrogacy). Another more recent alternative, uterus transplant, has been performed for these young women. This allows them to carry their own child in the transplanted uterus.

• #81 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

  Mullerian agenesis is the most common cause of primary amenorrhea with well-developed secondary sexual characteristics. […] There are various forms of mullerian agenesis. […] Most of the cases are managed by a multidisciplinary team. […] Rare variants warrant an individualized approach to management. […] The most common cause of PA is gonadal dysgenesis, followed by mullerian duct agenesis. […] Mllerian agenesis (mullerian aplasia, vaginal agenesis) or MayerRokitanskyKsterHauser syndrome is rare, with an incidence of 1 per 45005000 females. […] 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.

• #82 – MedCrave online

  https://medcraveonline.com/OGIJ/OGIJ-06-00189

  Turner syndrome (45XO karyotype) is the most common form of female gonadal dysgenesis. […] Vaginal agenesis involves issues of physical abnormality, body image, sexual identity, sexual and reproductive functioning requires long-term medical psychological management. […] The use of Interceed in surgical vaginoplasty is shown to give encouraging results with less operative time least morbidity.

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

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

  Diagnosis of vaginal agenesis can be done via physical exam, MRI, laparoscopy, hysteroscopy, sonography, and hysterosalpingography. […] Treatment of vaginal agenesis should utilize a multi-faceted approach. It is essential to determine the underlying cause and evaluate for related congenital anomalies. […] 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. […] Vaginal agenesis can present in several different ways, and because of this, it is often misdiagnosed or undiagnosed.

• #84 Internet Scientific Publications

  https://ispub.com/IJGO/15/1/9475

  Mllerian agenesis is a congenital malformation in women. It is characterized by a failure of the Mllerian ducts to develop, which results in a missing uterus and variable malformations of the vagina. […] Mllerian agenesis has been considered as a sporadic anomaly, but the increase in familial cases now supports the hypothesis of a genetic cause. It is transmitted as an autosomal dominant trait with incomplete penetrance and variable expressivity. […] It is reported to occur as a case in 4000-10,000 live female births. It is the second most common cause of primary amenorrhea. […] Mllerian agenesis is a rare condition being the second most common cause for primary amenorrhea. Mllerian agenesis is the cause for 15% of the cases of primary amenorrhea. […] There are several treatment options to treat Mllerian agenesis. Primarily, it is important that the patient and family undergo counselling so as to educate the patient and motivate them for treatment. […] The non surgical creation of a neovagina with the help of prosthetic vaginal dilators is usually the first line of treatment if suitable. […] Over the years various studies have shown success in patients with MRKH syndrome being treated by the non surgical approach.

• #85 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

  Mullerian agenesis is the most common cause of primary amenorrhea with well-developed secondary sexual characteristics. […] There are various forms of mullerian agenesis. […] Most of the cases are managed by a multidisciplinary team. […] Rare variants warrant an individualized approach to management. […] The most common cause of PA is gonadal dysgenesis, followed by mullerian duct agenesis. […] Mllerian agenesis (mullerian aplasia, vaginal agenesis) or MayerRokitanskyKsterHauser syndrome is rare, with an incidence of 1 per 45005000 females. […] 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.

• #86 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. […] 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. […] Originally, researchers suspected that MRKH syndrome was caused by environmental factors during pregnancy, such as medication or maternal illness. However, subsequent studies have not identified a clear association between MRKH syndrome and any specific environmental factors. Researchers now suggest that genetic and environmental factors together contribute to the development of MRKH syndrome, although the specific factors are often unknown.

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

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

  Vaginal agenesis may have these features: […] 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.

• #88

  https://www.amerikanhastanesi.org/mayo-clinic-care-network/mayo-clinic-health-information-library/diseases-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.

• #89 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. Genetic counseling and testing may be recommended to identify possible hereditary factors in women with this disorder. […] The main causes are genetic abnormalities, mutations in certain genes and exposure to teratogens during pregnancy.

• #90 Identification of Genetic Causes in Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome: A Systematic Review of the Literature

  https://www.mdpi.com/2227-9067/9/7/961

  The genetic causes of MRKH syndrome remain elusive. Although some cases are familial, most cases are sporadic. In this study, we summarized and analyzed the most frequently reported genetic defects associated with MRKH syndrome in the available literature. The most reported chromosomal regions and the possible genes implicated are 1q21.1 (RBM8A gene), 1p31-1p35 (WNT4 gene), 7p15.3 (HOXA gene), 16p11 (TBX6 gene), 17q12 (LHX1 and HNF1B genes), 22q11.21, and Xp22.

• #91 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.

• #92 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. […] 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, such as 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.

• #93 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. […] 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. […] There are no known risk factors for vaginal agenesis. […] It’s important to understand that if your daughter has MRKH, she has a karyotype of 46 XX, meaning she is genetically female.

• #94 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. Mllerian agenesis is caused by embryologic underdevelopment of the mllerian duct, with resultant agenesis or atresia of the vagina, uterus, or both. […] 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. […] Karyotype evaluation of patients with mllerian agenesis will be 46, XX in most individuals. Given the heterogeneity of mllerian agenesis, it is not surprising that there have been several karyotype rearrangement abnormalities reported, including duplications and deletions, as well as individual gene mutations such as the WNT4 and WNT9 genes.

• #95 Vaginal atresia – Wikipedia

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

  Rokitansky-Mayer-Kster-Hauser syndrome is a disorder in females that causes the uterus and vagina to be absent or underdeveloped. This disorder is caused by an implication in the WNT4 protein coding gene, which is found on the short arm (p) of chromosome 1. A genetic mutation occurs causing a substitution of leucine to proline residue at position 12 on the amino acid in the WNT4 protein. […] The exact mechanism for vaginal atresia is not well known, as specific molecular mechanisms which lead to the closing or absence of the vagina are unclear. There are various pathways that may support or restrict regular vaginal development. Specific patterns of genetic transmission have not been identified for this condition.

• #96 Vaginal atresia – Wikipedia

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

  Rokitansky-Mayer-Kster-Hauser syndrome is a disorder in females that causes the uterus and vagina to be absent or underdeveloped. This disorder is caused by an implication in the WNT4 protein coding gene, which is found on the short arm (p) of chromosome 1. A genetic mutation occurs causing a substitution of leucine to proline residue at position 12 on the amino acid in the WNT4 protein. […] The exact mechanism for vaginal atresia is not well known, as specific molecular mechanisms which lead to the closing or absence of the vagina are unclear. There are various pathways that may support or restrict regular vaginal development. Specific patterns of genetic transmission have not been identified for this condition.

• #97 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. Genetic counseling and testing may be recommended to identify possible hereditary factors in women with this disorder. […] The main causes are genetic abnormalities, mutations in certain genes and exposure to teratogens during pregnancy.

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