Materiały źródłowe

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

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

  Mllerian agenesis, also referred to as mllerian aplasia, Mayer-Rokitansky-Kster-Hauser syndrome, or vaginal agenesis, has an incidence of 1 per 4,5005,000 females. […] Evaluation for associated congenital anomalies is essential because up to 53% of patients with mllerian agenesis have concomitant congenital malformations, especially of the urinary tract and skeleton. […] All patients with mllerian agenesis should be offered counseling and encouraged to connect with peer support groups. […] Future options for having children should be addressed with patients. […] Primary vaginal elongation by dilation is the appropriate first-line approach in most patients because it is safer, patient-controlled, and more cost effective than surgery. […] Because primary vaginal dilation is successful for more than 9096% of patients, surgery should be reserved for the rare patient who is unsuccessful with primary dilator therapy or who prefers surgery after a thorough informed consent discussion with her gynecologic care provider and her respective parent(s) or guardian(s).

• #2 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. […] Women who have a history of mllerian agenesis and have created a functional vagina require routine gynecologic care and can be considered in a similar category to that of women without a cervix and thus annual cytologic screening for cancer may be considered unnecessary in this population.

• #3 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). Of these women, 7%10% have functional endometrium within a uterus that is obstructed, a rudimentary uterine horn, or cavitated Mllerian remnants. […] Reported to vary from 1/4000 to 1/10,500 female births. […] Generally not diagnosed until puberty, often following a delay of 23 years or more.

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

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

  The prevalence of MRKH syndrome is generally considered to be in 1 in 5000 live female births but it remains poorly investigated. […] The first reported prevalence was on vaginal agenesis by John Engstad in 1917, where he suggested a 1 in 5000 prevalence based on nine patients in his clinic. […] To date, only two population-based studies investigating the prevalence of MRKH syndrome have been published. […] The two studies were based on European populations and thus, it remains unknown whether the prevalence in other populations differs.

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

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

  The prevalence of MRKH syndrome is generally considered to be in 1 in 5000 live female births but it remains poorly investigated. […] The first reported prevalence was on vaginal agenesis by John Engstad in 1917, where he suggested a 1 in 5000 prevalence based on nine patients in his clinic. […] To date, only two population-based studies investigating the prevalence of MRKH syndrome have been published. […] The two studies were based on European populations and thus, it remains unknown whether the prevalence in other populations differs.

• #6 Vaginal Agenesis | Boston Children’s Hospital

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

  Vaginal agenesis affects 1 out of 5,000 to 7,000 female infants. […] 90 percent of patients are born with Mayer-von Rokitansky-Kster-Hauser’s Syndrome (MRKH) and have a collection of symptoms which may include an absent uterus and cervix, kidney, hearing loss, and a possible spinal abnormality such as curvature of the spine. […] 30 percent of patients with vaginal agenesis have kidney abnormalities. […] About 12 percent of girls with vaginal agenesis have skeletal abnormalities. […] There are no known ethnic groups that are especially at risk for vaginal agenesis.

• #7 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 is a rare disease, but it is prevalent enough that it should be kept at the forefront of the differential diagnosis in a woman with primary amenorrhea and recurring pain. […] 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. MRKH is rare, affecting one in 5,000 females. […] While the incidence of vaginal agenesis is rare, it should always be included when a female patient presents with primary amenorrhea and cyclic abdominal pain. […] Vaginal agenesis is second only to gonadal dysgenesis in terms of causes of primary amenorrhea, meaning it must be high on our differential diagnosis.

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

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

  It is considered the second most common cause of primary amenorrhea. The estimated Incidence is at ~ 2 in 10000 women. […] Vaginal atresia refers to a spectrum of anomalies comprising of failure to form a part or all of the vagina.

• #9 Fertility options in Mayer-Rokitansky-Küster-Hauser syndrome

  https://www.imrpress.com/journal/CEOG/48/3/10.31083/j.ceog.2021.03.2442/htm

  Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a congenital disorder characterized by agenesis of the Müllerian ducts (uterus and upper two-thirds of the vagina) in karyotypic normal females (46, XX), with normal external genitalia, and secondary sex characteristics. MRKH syndrome occurs in approximately 1 in 4500 female live births. Despite being a rare disorder, it has been reported as the second most common cause of primary amenorrhea (after gonadal dysgenesis) and affects about 10% of women with primary amenorrhea. […] The treatment of vaginal agenesis is the creation of a neovagina, which can be done both by surgical or non-surgical approach. The aim of the vaginoplasty is the creation of a neovagina which resembles as much as possible the normal one. […] With the improvements in assisted reproduction technology (ART), gestational surrogacy (GS), and uterine transplantation (UTx) have become new fertility options available to these patients.

• #10 Vaginal Agenesis: Causes, Symptoms And Treatment

  https://www.netmeds.com/health-library/post/vaginal-agenesis-causes-symptoms-and-treatment

  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. This condition is rare; only 1 out of 5000 women are diagnosed with it at puberty when they do not start menstruating. […] Vaginal agenesis usually occurs before birth and may also be associated with problems related to the kidney or skeletal framework. […] Vaginal agenesis is typically diagnosed during puberty when the menstrual periods dont start as usual, even after one has already developed breasts and has underarm and pubic hair.

• #11 Vaginal Agenesis | Lurie Children’s

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

  Vaginal agenesis is a congenital condition where the vagina is incompletely developed or absent. This condition is rare, affecting approximately 1 in 5,000 newborn girls. […] Vaginal agenesis is present at birth but may not be immediately obvious as the external genitalia typically appear normal. […] The condition is often diagnosed during puberty when a girl does not begin her menstrual periods as expected (a condition known as amenorrhea).

• #12 Vaginal Agenesis – Clinical Tree

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

  Vaginal agenesis is the congenital absence of the vagina, most often associated with an absence of the uterus (MayerRokitanskyKsterHauser [MRKH] syndrome). Of these women, 7%10% have functional endometrium within a uterus that is obstructed, a rudimentary uterine horn, or cavitated Mllerian remnants. […] Reported to vary from 1/4000 to 1/10,500 female births. […] Generally not diagnosed until puberty, often following a delay of 23 years or more.

• #13 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. […] 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. […] Many cases of vaginal agenesis are misdiagnosed or undiagnosed because of its rarity. […] We believe that physicians should consider vaginal agenesis in their differential diagnosis for patients presenting with cyclic abdominal pain and amenorrhea. […] Lack of routine medical care in a young woman, as in this case, can contribute to delayed diagnosis of vaginal anomalies such as vaginal agenesis.

• #14 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. Vaginal agenesis affects about one in every 5,000 females. […] Rarely, vaginal agenesis is noticed in a baby or girl before puberty on a physical examination of the female genitalia because there is no vaginal hole or opening. In most cases, vaginal agenesis is discovered after puberty. […] If a female does not start her period (menstruation) by the time she is 15 years old, this may be a sign of vaginal agenesis. […] While young women born with vaginal agenesis can have sex after successful vaginal dilation and/or vaginoplasty surgery, most females with vaginal agenesis do not have a uterus and cannot carry a pregnancy.

• #15 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. […] 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. […] Many cases of vaginal agenesis are misdiagnosed or undiagnosed because of its rarity. […] We believe that physicians should consider vaginal agenesis in their differential diagnosis for patients presenting with cyclic abdominal pain and amenorrhea. […] Lack of routine medical care in a young woman, as in this case, can contribute to delayed diagnosis of vaginal anomalies such as vaginal agenesis.

• #16 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. […] 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. […] Many cases of vaginal agenesis are misdiagnosed or undiagnosed because of its rarity. […] We believe that physicians should consider vaginal agenesis in their differential diagnosis for patients presenting with cyclic abdominal pain and amenorrhea. […] Lack of routine medical care in a young woman, as in this case, can contribute to delayed diagnosis of vaginal anomalies such as vaginal agenesis.

• #17 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

  Evaluation for associated congenital anomalies is essential because up to 53% of patients with mllerian agenesis have concomitant congenital malformations, especially of the urinary tract and skeleton. […] The most important steps in the effective management of mllerian agenesis are correct diagnosis of the underlying condition, evaluation for associated congenital anomalies, and psychosocial counseling in addition to treatment or intervention to address the functional effects of genital anomalies.

• #18 Vaginal Agenesis | Boston Children’s Hospital

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

  Vaginal agenesis affects 1 out of 5,000 to 7,000 female infants. […] 90 percent of patients are born with Mayer-von Rokitansky-Kster-Hauser’s Syndrome (MRKH) and have a collection of symptoms which may include an absent uterus and cervix, kidney, hearing loss, and a possible spinal abnormality such as curvature of the spine. […] 30 percent of patients with vaginal agenesis have kidney abnormalities. […] About 12 percent of girls with vaginal agenesis have skeletal abnormalities. […] There are no known ethnic groups that are especially at risk for vaginal agenesis.

• #19 Vaginal Agenesis | Boston Children’s Hospital

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

  Vaginal agenesis affects 1 out of 5,000 to 7,000 female infants. […] 90 percent of patients are born with Mayer-von Rokitansky-Kster-Hauser’s Syndrome (MRKH) and have a collection of symptoms which may include an absent uterus and cervix, kidney, hearing loss, and a possible spinal abnormality such as curvature of the spine. […] 30 percent of patients with vaginal agenesis have kidney abnormalities. […] About 12 percent of girls with vaginal agenesis have skeletal abnormalities. […] There are no known ethnic groups that are especially at risk for vaginal agenesis.

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

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

  Vaginal agenesis (a-JEN-uh-sis) is a rare disorder in which the vagina doesn’t develop, and the womb (uterus) may only develop partially or not at all. This condition is present before birth and may also be associated with kidney or skeletal problems. […] Vaginal agenesis is often identified at puberty when a female does not begin menstruating. […] Vaginal agenesis may also be associated with other issues, such as: Problems with development of the kidneys and urinary tract, Developmental changes in the bones of the spine, ribs and wrists, Hearing problems, Other congenital conditions that also involve the heart, gastrointestinal tract and limb growth. […] 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.

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

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

  The prevalence of MRKH syndrome is generally considered to be in 1 in 5000 live female births but it remains poorly investigated. […] The first reported prevalence was on vaginal agenesis by John Engstad in 1917, where he suggested a 1 in 5000 prevalence based on nine patients in his clinic. […] To date, only two population-based studies investigating the prevalence of MRKH syndrome have been published. […] The two studies were based on European populations and thus, it remains unknown whether the prevalence in other populations differs.

• #22 Uterine agenesis | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/uterine-agenesis?lang=us

  The uterine agenesis-hypoplasia spectrum accounts for ~10-15% of all Mllerian duct anomalies. […] Uterine agenesis is the extreme of Mullerian duct anomalies (Class I) where there is a complete absence of uterine tissue above the vagina.

• #23

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

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

• #24 Vaginal Agenesis | Inova

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

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

• #25 Vaginal agenesis – VALINTERMED treatment in Valencia

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

  Vaginal agenesis occurs with a frequency of 1 in 4,000-5,000 newborn girls. […] Epidemiological studies show that this disease is most often detected during college age, when women first seek medical help due to the absence of menstruation or difficulties in starting a sexual life. […] In some cases, vaginal agenesis may not be diagnosed until later in life, and, as a result, the incidence statistics may be underestimated.

• #26 Vaginal agenesis – VALINTERMED treatment in Valencia

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

  Vaginal agenesis occurs with a frequency of 1 in 4,000-5,000 newborn girls. […] Epidemiological studies show that this disease is most often detected during college age, when women first seek medical help due to the absence of menstruation or difficulties in starting a sexual life. […] In some cases, vaginal agenesis may not be diagnosed until later in life, and, as a result, the incidence statistics may be underestimated.

• #27 The Power of a Name: My Secret Life With M.R.K.H. – The New York Times

  https://www.nytimes.com/2019/05/28/well/live/mrkh-syndrome-uterus.html

  I have M.R.K.H. These four letters stand for Mayer, Rokitansky, Küster and Hauser, the names of the four doctors who discovered the syndrome over a hundred years ago. This anatomical condition occurs during the first trimester of pregnancy, when the duct that normally forms the uterus, cervix and vaginal canal fails to develop. Ovaries do develop, but there is no menstruation. […] Although the condition is rare, impacting just one in every 4,500 women, for over 40 years I thought I was like nobody else. […] Some doctors are simply ignorant of the condition. Others are unaware of the difference the actual name can make. […] It is too late for these to be an option for me, but it is still so healing to know the possibilities exist for others.

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

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

  Müllerian agenesis, also known as Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, is a congenital condition that results in underdevelopment of the uterus, cervix and upper two-thirds of the vagina. MRKH affects 1 in 5,000 individuals assigned female sex at birth. […] Overall, 616 individuals with Müllerian agenesis from 40 countries responded to an in-depth survey about their experiences. Of the respondents, 54% received one or more vaginal lengthening treatments. […] Our findings show room for improvement in the counseling and care of individuals with MRKH, particularly around vaginal lengthening. […] Pennesi and her team at the MRKH Care Center at Cincinnati Children’s aim to increase awareness about Müllerian agenesis among providers and provide comprehensive care to individuals with MRKH.

• #29 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 is a rare disease, but it is prevalent enough that it should be kept at the forefront of the differential diagnosis in a woman with primary amenorrhea and recurring pain. […] 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. MRKH is rare, affecting one in 5,000 females. […] While the incidence of vaginal agenesis is rare, it should always be included when a female patient presents with primary amenorrhea and cyclic abdominal pain. […] Vaginal agenesis is second only to gonadal dysgenesis in terms of causes of primary amenorrhea, meaning it must be high on our differential diagnosis.

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

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

  Vaginal agenesis (a-JEN-uh-sis) is a rare disorder in which the vagina doesn’t develop, and the womb (uterus) may only develop partially or not at all. This condition is present before birth and may also be associated with kidney or skeletal problems. […] Vaginal agenesis is often identified at puberty when a female does not begin menstruating. […] Vaginal agenesis may also be associated with other issues, such as: Problems with development of the kidneys and urinary tract, Developmental changes in the bones of the spine, ribs and wrists, Hearing problems, Other congenital conditions that also involve the heart, gastrointestinal tract and limb growth. […] 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.

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

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

  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. […] Vaginal agenesis may impact your sexual relationships, but after treatment, your vagina will typically function well for sexual activity.

• #32 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. […] Mllerian agenesis (mullerian aplasia, vaginal agenesis) or MayerRokitanskyKsterHauser syndrome is rare, with an incidence of 1 per 45005000 females. […] The American Society for Reproductive Medicine (ASRM) Mullerian Anomalies Classification 2021 (MAC2021) divides it into nine categories while allowing for an overlap of abnormalities. […] When the abnormalities of our patient were interpreted in the context of the MAC2021, the abnormalities belonged to mullerian agenesis (MA), right-side uterine remnant with functional endometrium, left-side remnant with nonfunctional endometrium, and cervical hypoplasia/agenesis.

• #33 Vaginal Agenesis | Boston Children’s Hospital

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

  Vaginal agenesis affects 1 out of 5,000 to 7,000 female infants. […] 90 percent of patients are born with Mayer-von Rokitansky-Kster-Hauser’s Syndrome (MRKH) and have a collection of symptoms which may include an absent uterus and cervix, kidney, hearing loss, and a possible spinal abnormality such as curvature of the spine. […] 30 percent of patients with vaginal agenesis have kidney abnormalities. […] About 12 percent of girls with vaginal agenesis have skeletal abnormalities. […] There are no known ethnic groups that are especially at risk for vaginal agenesis.

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

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

  Vaginal agenesis, which occurs in approximately 1 in every 5,000 to 7,000 female births, is a significant threat to the mental health and well-being of an otherwise normal, healthy young woman. […] More than 90% of patients with vaginal agenesis fulfill the criteria for the Rokitansky-Kuster-Hauser syndrome-ie, 46,XX karyotype with normal, functioning ovaries. […] Approximately 7% to 8% of the remaining patients have a more unusual genetic abnormality and fulfill the criteria for testicular feminization (androgen insensitivity syndrome). […] In all of these patients, the external genitalia are essentially normal. […] Thorough evaluation at the time of diagnosis is paramount and should include phenotypic studies to determine the exact karyotype. […] Vaginal agenesis may be inappropriately diagnosed as an imperforate hymen, and misguided attempts at hymenotomy may result in secondary scar formation.

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

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

  Vaginal agenesis, which occurs in approximately 1 in every 5,000 to 7,000 female births, is a significant threat to the mental health and well-being of an otherwise normal, healthy young woman. […] More than 90% of patients with vaginal agenesis fulfill the criteria for the Rokitansky-Kuster-Hauser syndrome-ie, 46,XX karyotype with normal, functioning ovaries. […] Approximately 7% to 8% of the remaining patients have a more unusual genetic abnormality and fulfill the criteria for testicular feminization (androgen insensitivity syndrome). […] In all of these patients, the external genitalia are essentially normal. […] Thorough evaluation at the time of diagnosis is paramount and should include phenotypic studies to determine the exact karyotype. […] Vaginal agenesis may be inappropriately diagnosed as an imperforate hymen, and misguided attempts at hymenotomy may result in secondary scar formation.

• #36 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. Women with Vaginal Agenesis often struggle with feelings of shame and inadequacy and may face significant barriers in relationships and intimacy. […] 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.

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

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

  The diagnosis of MRKH syndrome poses psychological distress for the patient. […] Hence, treatment is normally done by a multidisciplinary team comprising gynecologists, fertility specialists, and psychological counselors. […] Treatment for MRKH syndrome normally includes progressive vaginal dilators, surgical creation of a neovagina, or other complex procedures and should be referred to specialized centers. […] Fertility options include adoption, surrogacy with the use of an ovum from the woman herself, or UT. […] Most of the cases are managed by a multidisciplinary team. […] Rare variants warrant an individualized approach to management.

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

• #39

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

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

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

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

  A further concern is the potential for iatrogenically induced trauma stemming from the physician-patient discussion. […] There is some debate about when these patients should be treated. […] We believe that medical treatment should be deferred until the patient attains full growth, is psychologically prepared, and is socially and sexually mature. […] The Ingram technique is successful in approximately 90% of cases, and surgery should not be considered until the patient has undergone a sufficient trial of this approach. […] Professional counseling of the patient and her parents should begin shortly after the abnormality is recognized. […] Early referral for counseling is essential for all of these patients to help them deal with issues of inadequacy, gender/sexual identity and functioning, and motherhood. […] The patient with a 46,XY karyotype may have additional questions about her sexual identity, and her parents may want to know what to tell her. […] It is essential for the physician and support staff to address the concerns of the patient and her parents from the time of diagnosis.

• #41 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. […] Women who have a history of mllerian agenesis and have created a functional vagina require routine gynecologic care and can be considered in a similar category to that of women without a cervix and thus annual cytologic screening for cancer may be considered unnecessary in this population.

• #42

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

  Because primary vaginal dilation is successful for more than 9096% of patients, surgery should be reserved for the rare patient who is unsuccessful with primary dilator therapy or who prefers surgery after a thorough informed consent discussion with her gynecologic care provider and her respective parent(s) or guardian(s). […] Regardless of the surgical technique chosen, referrals to centers with expertise should be offered. […] Sexually active women with mllerian agenesis should be aware that they are at risk of sexually transmitted infections and, thus, condoms should be used for intercourse. […] Patients should be given a written medical summary of their condition, including a summary of concomitant malformations.

• #43

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

  Because primary vaginal dilation is successful for more than 9096% of patients, surgery should be reserved for the rare patient who is unsuccessful with primary dilator therapy or who prefers surgery after a thorough informed consent discussion with her gynecologic care provider and her respective parent(s) or guardian(s). […] Regardless of the surgical technique chosen, referrals to centers with expertise should be offered. […] Sexually active women with mllerian agenesis should be aware that they are at risk of sexually transmitted infections and, thus, condoms should be used for intercourse. […] Patients should be given a written medical summary of their condition, including a summary of concomitant malformations.

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

• #45

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

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

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

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

  The diagnosis of MRKH syndrome poses psychological distress for the patient. […] Hence, treatment is normally done by a multidisciplinary team comprising gynecologists, fertility specialists, and psychological counselors. […] Treatment for MRKH syndrome normally includes progressive vaginal dilators, surgical creation of a neovagina, or other complex procedures and should be referred to specialized centers. […] Fertility options include adoption, surrogacy with the use of an ovum from the woman herself, or UT. […] Most of the cases are managed by a multidisciplinary team. […] Rare variants warrant an individualized approach to management.

• #47 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. Vaginal agenesis affects about one in every 5,000 females. […] Rarely, vaginal agenesis is noticed in a baby or girl before puberty on a physical examination of the female genitalia because there is no vaginal hole or opening. In most cases, vaginal agenesis is discovered after puberty. […] If a female does not start her period (menstruation) by the time she is 15 years old, this may be a sign of vaginal agenesis. […] While young women born with vaginal agenesis can have sex after successful vaginal dilation and/or vaginoplasty surgery, most females with vaginal agenesis do not have a uterus and cannot carry a pregnancy.

• #48 Vaginal Agenesis | AdventHealth Medical Group

  https://www.adventhealth.com/practice/adventhealth-medical-group/vaginal-agenesis

  Vaginal agenesis is a birth defect that causes the vagina to not form in a female baby. Vaginal agenesis occurs before birth during embryologic development and it affects one in every five thousand female infants. […] Treatment for this condition will vary, but may include non-surgical methods such as self-dilation, or surgical procedures such as a vaginoplasty. Some patients may have difficulty getting pregnant or be unable to get pregnant, but most patients can lead a normal lifestyle after treatment.

• #49 Fertility options in Mayer-Rokitansky-Küster-Hauser syndrome

  https://www.imrpress.com/journal/CEOG/48/3/10.31083/j.ceog.2021.03.2442/htm

  The volume of UTx procedures performed is increasing rapidly. The need for a precise database collecting all the cases and outcomes calls for the creation of an international registry of uterus transplantation cases with follow-up of patients, children and donors. […] The strongest clinical indication is represented by women with a strong desire for fertility who suffer from MRKH syndrome and live in countries where GS is banned. According to current data, UTx is an effective method to achieve fertility in a selected group of patients.

• #50 Fertility options in Mayer-Rokitansky-Küster-Hauser syndrome

  https://www.imrpress.com/journal/CEOG/48/3/10.31083/j.ceog.2021.03.2442/htm

  The volume of UTx procedures performed is increasing rapidly. The need for a precise database collecting all the cases and outcomes calls for the creation of an international registry of uterus transplantation cases with follow-up of patients, children and donors. […] The strongest clinical indication is represented by women with a strong desire for fertility who suffer from MRKH syndrome and live in countries where GS is banned. According to current data, UTx is an effective method to achieve fertility in a selected group of patients.

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

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

  Müllerian agenesis, also known as Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, is a congenital condition that results in underdevelopment of the uterus, cervix and upper two-thirds of the vagina. MRKH affects 1 in 5,000 individuals assigned female sex at birth. […] Overall, 616 individuals with Müllerian agenesis from 40 countries responded to an in-depth survey about their experiences. Of the respondents, 54% received one or more vaginal lengthening treatments. […] Our findings show room for improvement in the counseling and care of individuals with MRKH, particularly around vaginal lengthening. […] Pennesi and her team at the MRKH Care Center at Cincinnati Children’s aim to increase awareness about Müllerian agenesis among providers and provide comprehensive care to individuals with MRKH.

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