labia majora, labia minora, and clitoris are normal A palpable sling of tissue may be present at the level of the peritoneal reflection See Presentation for more detail. [emedicine.medscape.com]

Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual. Human body cells normally have 46 chromosomes. [rarediseases.org]

At present, we are investigating a family where this type of association has been found: the proband is a 46, XX fetus with no visible chromosomal anomaly; the father and his first daughter (now 5 years old) presented with isolated unilateral renal agenesis [ojrd.biomedcentral.com]

The case presented here is about a 13-year-old female teenager with this syndrome. The literature on this topic will be reviewed. Keywords: Primary amenorrhea, vagina agenesis, müllerian duct aplasia, Mayer-Rokitansky-KüsterHauser. [go.gale.com]

Patients with MRKH syndrome have a normal female karyotype (46XX) and seemingly normal development of secondary sex characteristics and typically present with amenorrhea during adolescence, resulting in problems with sexual intercourse and infertility1 [nature.com]

• Abdominal Pain

  Signs and symptoms The following may be observed in patients with MRKH syndrome: The patient undergoes puberty with normal thelarche and adrenarche; however, menses do not begin (ie, primary amenorrhea) Patients may report cyclic abdominal pain due to [emedicine.medscape.com]

• Long Arm

  Each chromosome has a short arm designated “p” and a long arm designated “q”. Chromosomes are further sub-divided into many bands that are numbered. For example, “chromosome 1q21.1” refers to band 21.1 on the long arm of chromosome 1. [rarediseases.org]

• Short Arm

  Each chromosome has a short arm designated “p” and a long arm designated “q”. Chromosomes are further sub-divided into many bands that are numbered. For example, “chromosome 1q21.1” refers to band 21.1 on the long arm of chromosome 1. [rarediseases.org]

• Pelvic Pain

  Observational study from 2000 to 2017 within university hospital of Strasbourg]. 61 Schwaab T...Bryand A 31280033 2019 44 Pelvic pain in patients with complex mullerian anomalies including Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH), obstructed hemi-vagina [malacards.org]

  pain requiring excision Pyelography Perform intravenous pyelography to assess renal structure Retrograde pyelography can be used to assess the renal collecting system, and it does not require intravenous contrast injection but does require cystoscopy [emedicine.medscape.com]

  In the last case, after two surgical operation, there was still chronic pelvic pain (probably caused by the presence of residual endometrial tissue, not evidenced in the followup by TC and ultrasound), and so the patient underwent therapy with a continuous [hindawi.com]

  Isolated vaginal atresia Questioning will generally reveal pelvic pain in association with cryptomenorrhea on physical examination. [ojrd.biomedcentral.com]

• Incontinence

  […] abdominal pain due to cyclic endometrial shedding without a patent drainage pathway Because ovarian function is normal, patients experience all bodily changes associated with menstruation Infertility Difficulty with intercourse Voiding difficulties, urinary incontinence [emedicine.medscape.com]

[…] requiring excision Pyelography Perform intravenous pyelography to assess renal structure Retrograde pyelography can be used to assess the renal collecting system, and it does not require intravenous contrast injection but does require cystoscopy See Workup [emedicine.medscape.com]

[…] previous work related to 4 patients with MRKH syndrome, we reported that in the first case, the age at diagnosis was 15 years, 20 years in the second case, in the third case, the patient came to our attention at 23 years after completed the diagnostic workup [hindawi.com]

Standard Therapies Treatment The treatment of MRKH syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. [rarediseases.org]

Treatment of utero-vaginal aplasia Treatment consisting of creating a neovagina must be offered to patients only when they are ready to start sexual activity and also when they are emotionally mature. [ojrd.biomedcentral.com]

[…] of Mayer-Rokitansky-Küster-Hauser Syndrome. 61 Candiani M...Fedele L 31129299 2020 36 Mayer-Rokitansky-Küster-Hauser syndrome - case studies, methods of treatment and the future prospects of human uterus transplantation. 61 Pluta D...Madej P 32016956 [malacards.org]

Management The goal of treatment is to provide the patient with an unscarred vagina that allows sexual functioning. [emedicine.medscape.com]

They analyzed 108 patients with MRKH syndrome from 1955 to 2003, of which 55 (mean age at diagnosis: 19; mean age at treatment: 22) underwent surgical procedure, whereas 53 (mean age at diagnosis: 17; mean age at treatment: 20) used the “functional method [hindawi.com]

Prognosis The patient may have normal sexual functioning after surgical reconstruction. However, surgical vaginal reconstruction does not establish the ability to conceive through natural means. [emedicine.medscape.com]

Neuron navigator 3 alterations in nervous system tumors associate with tumor malignancy grade and prognosis. Genes Chromosomes Cancer 52, 191–201 (2013). 19. Parker, E. J. [nature.com]

Affected individuals should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis. [rarediseases.org]

The etiology of this syndrome remains elusive because most of the cases are sporadic with potential underlying heterogenous causes. [nature.com]

Etiology A postulation is that the müllerian duct system ceases development during gestational days 44-48, for reasons yet to be fully elucidated. [emedicine.medscape.com]

This condition is similar but distinct from MRKH syndrome (see Etiology section) and may therefore lead to confusion. [ojrd.biomedcentral.com]

However, the etiology of this syndrome is still unclear. The case presented here is about a 13-year-old female teenager with this syndrome. The literature on this topic will be reviewed. [go.gale.com]

Etiologically, this syndrome may be caused by the lack of development of the Müllerian ducts between the fifth and the sixth weeks of gestation. [hindawi.com]

[…] not yet been identified, MRKH syndrome appears to be transmitted in an autosomal dominant fashion, with incomplete penetrance and variable expressivity. [2, 11] It has been suggested that the pathogenesis of the condition may be multifactorial. [12] Epidemiology [emedicine.medscape.com]

Epidemiology Although Rokitansky syndrome or MRKH syndrome (Mayer-Rokitansky-Küster-Hauser) has been considered for a long time as a sporadic anomaly, it is a clinical condition widely proved with an incidence of one out of 4.500 women. [hindawi.com]

Martinez-Frias ML, Bermejo E, Rodriguez-Pinilla E, Prieto L, Frias JL: Epidemiological analysis of outcomes of pregnancy in gestational diabetic mothers. [ojrd.biomedcentral.com]

Pathophysiology At approximately 5 weeks' gestation, the müllerian ducts stop developing. The skeleton, which is derived from the embryonic mesoderm, is vulnerable to developmental disturbances at this time. [emedicine.medscape.com]

The stent is removed about 1 week later, and the patient uses a mold or dilator in the neovagina every day and night for 3 months, followed by nightly insertion for 3 more months to prevent contraction Disadvantages of this procedure include scarring [emedicine.medscape.com]

Mayer-Rokitansky-Küster-Hauser syndrome treated via non-surgical vaginal reconstruction using uterine cervical dilators. 61 Kawasaki A...Sato T 31854484 2019 42 Misdiagnosis of Mullerian agenesis in a patient with 46, XX gonadal dysgenesis: a missed opportunity for prevention [malacards.org]

Indeed, WTNT4 plays a key role both in the examination of female development and in the prevention of testicles formation. [hindawi.com]