Mayer–Rokitansky–Kuster–Hauser Type-B Anomaly with MURCS Association and Gonadal Dysgenesis

Dasgupta, Shyamal; Mukhopadhyay, Partha; Sharma, Partha; Begum, Naseem; Kalra, Aradhana

doi:10.1007/s13224-013-0384-4

Cited by 7 publications

(9 citation statements)

References 3 publications

(4 reference statements)

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“…Similarly, anomalies of the extremities, particularly in the hands and fingers (syndactyly), rib deformities, cleft palate, shoulder blade and pelvic deformities, have also been reported. 5 The renal (crossed fused ectopia of kidneys 6 ) and vertebral segmentation defects (Cervical block vertebra and hemivertebra) described in our case have been reported earlier. But an exophytic bony projection from the spinous process of C5 vertebra, presenting as a swelling over the neck has not been described previously as a skeletal malformation in MURCS Association.…”

Section: Discussionsupporting

confidence: 71%

MURCS association with absent hand and unusual vertebral anomaly

Abdulla

Palakkan²,

Koya³

et al. 2014

Int J Reprod Contracept Obstet Gynecol

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Mullerian duct aplasia, Renal aplasia and Cervicothoracic Somite dysplasia (MURCS association) is a developmental field defect, diagnosed if both aplasia/hypoplasia of the Mullerian duct, renal agenesis/ectopy and anomalies of the cervicothoracic somites are present. We report a case of MURCS Association with the above features, absent hand, T12 Hemi vertebra and an exophytic bony outgrowth from C5 vertebra. An exophytic bony projection from the spinous process of C5 vertebra, presenting as a swelling over the neck has not been described previously as a skeletal malformation in MURCS Association. Absent hand as a skeletal malformation in MURCS association was not seen in the earlier literature. This case is reported since it adds to the wide spectrum of anomalies associated with MURCS association and helps in distinguishing MURCS association from the syndromes which may show overlap.

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Section: Discussionsupporting

confidence: 71%

MURCS association with absent hand and unusual vertebral anomaly

Abdulla

Palakkan²,

Koya³

et al. 2014

Int J Reprod Contracept Obstet Gynecol

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“…MRKH syndrome is the second most common cause of primary amenorrhea. 2 The incidence is about 1 in 4000-5000 live female births. 1,2 The typical form is seen in 47% of patients, the atypical form in 21% and 32% present with the most marked form-the MURCS association which is an acronym for (MU)llerian, (R)enal, (C)ervicothoracic (S)omite abnormalities and is a developmental disorder that primarily affects the uro-genital system.…”

Section: Discussionmentioning

confidence: 99%

“…2 The incidence is about 1 in 4000-5000 live female births. 1,2 The typical form is seen in 47% of patients, the atypical form in 21% and 32% present with the most marked form-the MURCS association which is an acronym for (MU)llerian, (R)enal, (C)ervicothoracic (S)omite abnormalities and is a developmental disorder that primarily affects the uro-genital system. (10) MRKH syndrome is associated with the Wnt family member 4 (Wnt4) mutation, LIM homeobox 1 (LHX1), HNF1 homeobox B (HNF1B) and T-box 6 (TBX6).…”

Section: Discussionmentioning

confidence: 99%

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Vaginoplasty: A case series comparing three different operative techniques

2020

IJOGR

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Introduction:Vaginal agenesis may present as a single defect in development or associated with other anomalies. It is usually associated with Mayer-Rokitansky-Kuster-Hauser (MRKH) and Androgen Insensitivity Syndromes (AIS). The incidence is about 1 in 4000-5000 live female births. This is a case series of six cases of vaginoplasties performed by three varied surgical techniques over a period of two years, with a follow up. Cases: A comparison of three techniques of vaginoplasties was done. Six total cases were included-three cases using modified McIndoe's technique with amnion graft, two using split thickness skin graft and one by Laparoscopic Peritoneal Pull through technique. Patients were followed up meticulously over the course of two years and results were recorded. The comparison scoring was done based on relative ease of the operative procedure, pain experienced, vaginal depth on follow up, uptake of graft and sexual satisfaction in the married females. Result: Despite new techniques of vaginoplasty advancing over the years such as laparoscopic approaches and use of different materials as grafts, vaginoplasty with amnion graft is stillpreferredfor the treatment of vaginal agenesis.The technique is simple and safe and provides a satisfactory and functional vagina in majority of the patients.

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“… 1 There are two subtypes of MRKH syndrome: type A, having isolated uterine aplasia without associated anomalies, and type B, which is associated with other gynecological anomalies (abnormal fallopian tubes) and non-gynecological anomalies. 2 , 3 The renal involvement is the most common, which occurs in 40% of patients. 4 …”

Section: Introductionmentioning

confidence: 99%