A rare form of Mayer-Rokitansky-Küster-Hauser syndrome: Case report and review of literature

Dandan, Omran Al; Hassan, Ali; Alsaihati, Amna; Aljawad, Lujain; Almejhim, Fathiya

doi:10.1016/j.crwh.2019.e00137

Cited by 5 publications

(11 citation statements)

References 9 publications

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“…MRKH syndrome is named based on the works of German anatomist and physiologist Mayer in 1829 and Rokitansky in 1838 Küster in 1910 and Hauser and Schreiner in 1961. 4 There are two main types of MRKS, in type 1 there is complete absence of the uterus and in type 2 there is also other systems malformations including kidney, heart, and bones. Earlier diagnosis and identifying associated malformations were performed by laparoscopy but, there are many newer noninvasive methods.…”

Section: Discussionmentioning

confidence: 99%

“…3 Newer classifications also describe more subclasses according to the presence of different associated extragenital malformations. 4 The usual kidney malformations reported in 30%-40% of patients include unilateral agenesis, ectopy of one or both kidneys, horseshoe kidneys (in up to 40% of cases), renal hypoplasia, and hydronephrosis. 4,5 Bone defects are also seen especially in vertebrae such as fused vertebrae, scoliosis and Klippel-Feil anomaly.…”

Section: Introductionmentioning

confidence: 99%

“…4 The usual kidney malformations reported in 30%-40% of patients include unilateral agenesis, ectopy of one or both kidneys, horseshoe kidneys (in up to 40% of cases), renal hypoplasia, and hydronephrosis. 4,5 Bone defects are also seen especially in vertebrae such as fused vertebrae, scoliosis and Klippel-Feil anomaly. Anomalies of the hearing system, heart defects, and syndactyly or polydactyly are also reported in some cases.…”

Section: Introductionmentioning

confidence: 99%

“…In type 2 there is also other systems malformations including kidney, heart, and bones 3 . Newer classifications also describe more subclasses according to the presence of different associated extragenital malformations 4 . The usual kidney malformations reported in 30%–40% of patients include unilateral agenesis, ectopy of one or both kidneys, horseshoe kidneys (in up to 40% of cases), renal hypoplasia, and hydronephrosis 4,5 .…”

Section: Introductionmentioning

confidence: 99%

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Mayer‐Rokitansky‐Küster‐Hauser syndrome presented as recurrent urinary tract infection in childhood (case report)

Falsafi

Amirzargar

Moghtaderi

2023

Repro Female Child Health

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Background Mayer‐Rokitansky‐Küster‐Hauser syndrome (MRKH) is characterized by the absence of the uterus and upper two‐thirds of the vagina, normal secondary sexual development, and 46XX karyotype is one of the rare types of Mullerian agenesis. There may be associated congenital anomalies in other organ systems especially those with the same embryogenesis such as the urinary tract mostly in its upper parts present in 40% of cases including renal agenesis, ectopic kidney (unilateral or bilateral), renal hypoplasia, horseshoe kidneys, and hydronephrosis. Other organ systems also may be affected such as skeletal and auditory systems. MRKH is diagnosed mostly during or after adolescence because of unexpected amenorrhea or disturbed sexual experiences. Case report We present a 3‐year‐old girl coming with recurrent bouts of urinary tract infections diagnosed as having MRKH syndrome established by imaging and genetic studies. Our case is very rare and interesting because it presents itself as a recurrent urinary tract infection in early childhood which is rare and unusual. In this case, early detection helped us to prevent chronic kidney disease and also planning to perform necessary minimal but very important surgical procedures before initiation of sexual activities to relieve the psychosocial aspect of the syndrome both for the child and parents. Conclusion Health givers should keep in mind that rare syndromes may present as a repeated quite common problem or have confusing or conceiving presentations. This point will assist us in the early detection of rare diseases at an earlier age or stage.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Mayer‐Rokitansky‐Küster‐Hauser syndrome presented as recurrent urinary tract infection in childhood (case report)

Falsafi

Amirzargar

Moghtaderi

2023

Repro Female Child Health

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“…2 Müllerian agenesis, eponymously referred to as MRKH syndrome, is a spectrum of congenital anomalies of unknown aetiology characterised by a variable degree of utero-vaginal agenesis in women with normal secondary sexual characteristics and a 46, XX karyotype. 3 Although usually sporadic, some cases of Mullerian agenesis are associated with chromosomal translocations or occur in familial aggregates, suggesting a genetic basis for the disorder. Uterus remnants may or may not contain functioning endometrial tissue.…”

Section: Introductionmentioning

confidence: 99%

Chronic pelvic pain in a patient with Mayer-Rokitansky-Küster-Hauser syndrome: An unusual presentation

Jha

Kumari

Shalini

2021

Journal of Endometriosis and Pelvic Pain Disorders

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Introduction: MRKH syndrome, is a spectrum of congenital anomalies of unknown aetiology characterised by a variable degree of utero-vaginal agenesis in women with normal secondary sexual characteristics and a 46, XX karyotype. Case report: A 16 year old unmarried presented with absence of menses and chronic pelvic pain. MRKH with endometrioma was diagnosed on MRI. Laparoscopic removal of the Mullerian mass with endometriotic cyst was done. The diagnosis was subsequently confirmed on histology. Conclusion: This case highlights the atypical presentation of MRKH and reinforce the Sampsons theory of retrograde menstruation in the development of endometriosis. Patient with chronic pelvic pain and MRKH syndrome should be evaluated for endometriosis.

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A rare case of Mayer–Rokitansky–Kuster–Hauser syndrome with right ectopic kidney diagnosed on MRI

Singh

Patwa

Mishra

et al. 2022

Egypt J Radiol Nucl Med

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Introduction Meyer–Rokitansky–Küster–Hauser syndrome is rare congenital abnormality in females with a blind ending vagina. There can be associated hypoplasia of uterus. The syndrome is of sporadic origin and affects the reproductive life. Adequate and early diagnosis can help to rule out other associated anomalies. Case presentation We are presenting an interesting case of Mullerian agenesis in a 16-year-old female patient who came to our gynecology department of our hospital with complaints of primary amenorrhea. On imaging, it was found that she was a case of Mayer–Rokitansky–Küster–Hauser syndrome with ectopic kidney. On physical examination, affected individuals appear normal but there was agenesis of uterus which is the common cause of primary amenorrhea. Magnetic resonance imaging findings are discussed in this article. On karyotyping and hormonal evaluation, patient hormones were in range and karyotype was 46, XX. Conclusion MRI is mainstay for diagnosis of this condition although other modalities like ultrasound can diagnose hypoplastic uterus and ectopic kidney. A rudimentary uterus hampers the reproductive functioning, and patient needs counseling for the same.

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A rare form of Mayer-Rokitansky-Küster-Hauser syndrome: Case report and review of literature

Cited by 5 publications

References 9 publications

Mayer‐Rokitansky‐Küster‐Hauser syndrome presented as recurrent urinary tract infection in childhood (case report)

Mayer‐Rokitansky‐Küster‐Hauser syndrome presented as recurrent urinary tract infection in childhood (case report)

Chronic pelvic pain in a patient with Mayer-Rokitansky-Küster-Hauser syndrome: An unusual presentation

A rare case of Mayer–Rokitansky–Kuster–Hauser syndrome with right ectopic kidney diagnosed on MRI

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