Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome with unilateral pulmonary agenesis—a rarity indeed: radiologic review

Shivalingappa, Shivakumar Swamy; Shetty, Surekha B.

doi:10.1259/bjrcr.20150157

Cited by 10 publications

(16 citation statements)

References 7 publications

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“… 1 , 3 - 6 The syndrome is characterized by aplasia of the uterus and upper part of the vagina in females with normal secondary sex characteristics compatible with age, with no sign of virilization and a normal female karyotype (46,XX). 1 , 4 …”

Section: Discussionmentioning

confidence: 99%

“…There are two types of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome with prevalence of type I (56-72%) being more than type II (28-44%) where type I is an isolated form, and type II is accompanied by other malformations involving the kidney, skeletal, and vascular systems, with kidney abnormalities being the most common (30-40%). 1,[3][4][5][6] The syndrome is characterized by aplasia of the uterus and upper part of the vagina in females with normal secondary sex characteristics compatible with age, with no sign of virilization and a normal female karyotype (46,XX). 1,4 Primary amenorrhea is reported, either with or without colic pain, and dyspareunia/apareunia are extra complaints upon referral.…”

Section: Discussionmentioning

confidence: 99%

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Mayer-Rokitansky-Kuster-Hauser Syndrome Type II with Fused Kidneys in Pelvic Cavity: A Case Report

Paudel,

Rokaha,

Kafle

2024

J Nepal Med Assoc

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Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) also known as Müllerian agenesis, is caused by embryologic underdevelopment of the Mullerian duct, with resultant agenesis or atresia of the vagina, uterus, or both. Patients usually present with primary amenorrhea with normal growth and pubertal development. Here we present a case of a 29-year-old woman presented with primary amenorrhea. Secondary sexual characteristics and hormone evaluation were normal. Ultrasound and MRI were conducted and revealed complete absence of uterus, small vaginal canal. Bilateral renalfossa were empty and both the kidneys were located in the pelvic cavity fused to one-another with single renal pelvis giving pancake appearance.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Mayer-Rokitansky-Kuster-Hauser Syndrome Type II with Fused Kidneys in Pelvic Cavity: A Case Report

Paudel,

Rokaha,

Kafle

2024

J Nepal Med Assoc

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“…6 It is inherited as an autosomal dominant trait with an incidence of 1 in 4500 female births. 5,7 There are two forms of MRKH syndrome. Type 1, accounting for 44% of MRKH syndromes, is the isolated Mullerian abnormality, i.e., congenital absence of uterus and vagina.…”

Section: Discussionmentioning

confidence: 99%

Ovarian inguinal hernia – a possibility in MURCS syndrome

Saini

Bains

Kaur

et al. 2020

Preprint

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Background Inguinal hernia containing ovary can be found in paediatric population and is a rare finding in women of reproductive age group. Most of the cases are associated with congenital abnormalities of the female genital tract. Case Presentation A 20 year old female presented with right reducible inguinal hernia, primary amenorrhea and normal secondary sexual characteristics. Clinical examination revealed scoliosis with convexity towards left side, prominence of left rib cage with sprengel deformity and right sided heart sounds. Ultrasound of the inguinal swelling revealed right ovary within the hernial sac, Chest X-ray revealed right lung collapse and dextrocardia. Further Magnetic resonance imaging (MRI) of pelvis revealed inguinal hernia with right ovary as its content, normal left ovary and absent uterus. Computed tomography (CT) revealed complete collapse of right lung with compensatory left lung hyperinflation and absent right kidney. Karyotyping of the patient was normal, 46XX. A diagnosis of MURCS syndrome with right ovarian hernia was made. The hernia was surgically managed with repositioning of ovary into the pelvis. Discussion Ovary in inguinal hernia is rare in women of reproductive age group. MRKH syndrome, a mullerian duct anomaly, is the congenital aplasia of uterus and upper two-thirds of vagina in a female with normal ovaries, fallopian tube, secondary sexual characteristics and 46XX karyotype. MURCS is a subtype of MRKH type 2 having mullerian duct agenesis with renal, cardiac, muscular & vertebral defects. General physical examination and primary investigations if yields abnormal findings; the patient must undergo an array of investigations to rule out MRKH/MURCS, or other congenital abnormality. Early diagnosis is essential to prevent its incarceration or torsion. The primary treatment of ovary in inguinal hernia is repositioning the ovary back to pelvis to preserve fertility and repair of inguinal hernia. A multidisciplinary team is required to deal with various abnormalities present in a patient with MURCS.

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“…It has an autosomaldominant inheritance pattern and is a result of the developmental malformation of Mullerian ducts [1]. It affects 1 in 4000 to 5000 female new-borns [1,2]. Pulmonary agenesis is a rare association in the MRKH syndrome [2][3][4].…”

Section: Introductionmentioning

confidence: 99%

“…It affects 1 in 4000 to 5000 female new-borns [1,2]. Pulmonary agenesis is a rare association in the MRKH syndrome [2][3][4]. Psychiatric comorbidities among these patients are less frequently reported and psychiatric care is neglected.…”

Section: Introductionmentioning

confidence: 99%

Dissociative disorder in Mayer Rokitansky Küster Hauser syndrome with pulmonary agenesis: a case report

Joshi

Bhandari

Shrestha

et al. 2022

Egypt J Neurol Psychiatry Neurosurg

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Background The Mayer Rokitansky Küster Hauser (MRKH) syndrome is a rare congenital disorder characterized by the absence of uterus and vagina in a patient who is phenotypically a female, with 46 XX karyotypes. It affects 1 in 4000 to 5000 female new-borns. Pulmonary agenesis is a rare association in this MRKH syndrome. Females with MRKH face various mental health issues and psychological disturbances, including dissociative disorder which is a stress-related psychiatric disorder. Dissociative disorder in MRKH syndrome is under-recognized and under-treated. Case presentation A 23-year-old unmarried woman presented to the emergency forabnormal behaviour attack. Recurrent episodes of dissociative convulsions were present most of the time with MRKH syndrome as the pertinent stressor. Both antidepressants and psychotherapy helped to decrease the frequency of dissociative convulsions and come interms with the syndrome. Conclusion This case describes dissociative disorder as the presentation and comorbid condition of MRKH syndrome and the impact of MRKH syndrome on the patient. We attempt to explain the occurrence of dissociative disorder in MRKH syndrome and the results of under-recognition and under-treatment of the same. We aim to highlight the presence of commonly treatable conditions associated with a rare syndrome and its effect when untreated and unrecognized.

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Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome with unilateral pulmonary agenesis—a rarity indeed: radiologic review

Cited by 10 publications

References 7 publications

Mayer-Rokitansky-Kuster-Hauser Syndrome Type II with Fused Kidneys in Pelvic Cavity: A Case Report

Mayer-Rokitansky-Kuster-Hauser Syndrome Type II with Fused Kidneys in Pelvic Cavity: A Case Report

Ovarian inguinal hernia – a possibility in MURCS syndrome

Dissociative disorder in Mayer Rokitansky Küster Hauser syndrome with pulmonary agenesis: a case report

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