Mayer–Rokitansky–Kuster–Hauser syndrome: Syndrome of Mullerian agenesis – A report of two cases

Yalavarthi, Sushma; Jadhav, Varsha Ashok; Kumar, Sunil; Pavani, Marianna

doi:10.4103/0975-2870.202095

Cited by 5 publications

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“…MRKH may be isolated (Type I), but it is more frequently associated with other defects (MRKH Type II). 1 Renal problems such as absence or ectopia of the kidneys is not uncommon which may lead to urinary incontinence, recurrent urinary tract infections or even renal failure, 2 however Amyloidosis was incriminated in our case We present this atypical case of Mayer-Rokitansky-Kuster-Hauser syndrome complicated with renal failure due to amyloid kidney to raise an inquiry is there a link between this syndrome and amyloidosis or such an association.…”

Section: Introductionmentioning

confidence: 75%

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2019

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Section: Introductionmentioning

confidence: 75%

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“…In Yalavarthi S et al study, the case of sertoliform endometrioid carcinoma associated with MRKH syndrome is reported. 14 In MRKH syndrome 40% of upper urinary tract malformations are found which includes ectopia of one or both kidneys (17%), unilateral renal agenesis (23-28%), horseshoe kidney, renal Hypoplasia (4%), and hydronephrosis. In MURCS patients 10-25% of them had Auditory defects or deafness and 30-40% of the skeletal abnormalities of the spine were also found in these cases.…”

Section: Discussionmentioning

confidence: 99%

“…In Yalavarthi et al .’s study, the case of sertoliform endometrioid carcinoma associated with MRKH syndrome is reported. 14 …”

Section: Discussionmentioning

confidence: 99%

A Rare Case of Lung Hypoplasia, Cardiac Anomalies and Ovarian Tumour in a Patient with Mayer-Rokitansky-Küster-Hauser Syndrome

Upadhya

Arpitha

Sivaselvi

et al. 2023

Sultan Qaboos Univ Med J

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Hypoplasia of the lung is an uncommon congenital abnormality of the respiratory system in contrast to Pulmonary agenesis. Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is the congenital absence of the upper two-thirds of the vagina and uterus with normal secondary sexual characteristics, ovary, and normal karyotype. Here we describe a case of left lung hypoplasia and congenital cardiac malformations with MRKH syndrome and Leiomyoma of the ovary. A 31-year-old female presented with cough with expectoration, left side chest pain and breathlessness for four years to Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER). She was evaluated for amenorrhea and diagnosed as MRKH syndrome and the patient underwent right side oophorectomy for right ovarian torsion with a tumour. Computed Tomography Pulmonary Angiogram (CTPA) and fiberoptic endoscopy were suggestive of left lung hypoplasia, and the patient was advised symptomatic treatment for lung hypoplasia and planned for vaginoplasty. Keywords: Pulmonary hypoplasia, Infertility, Mullerian aplasia, congenital bronchiectasis, Left-sided superior vena cava, ovarian Leiomyoma.

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“…10-25% have associated auditory defects, cardiac anomalies are seen rarely. 4 The levels of FSH, LH, estradiol in the serum are usually normal.…”

Section: Discussionmentioning

confidence: 99%

Type 2 Mayer-Rokitansky-Kusner-Hauser syndrome

Agarwal¹,

Mathur²

2020

IJOGR

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A 28-year-old married nulligravida presented with primary amenorrhea. There was no significant family history of similar complaints. Her secondary sexual characters were well developed with hypoplastic vagina. Ultrasonography of abdomen and pelvis revealed the absence of uterus and the right kidney. The patient had normal 46, XX Karyotype. She was diagnosed as a case of Type 2 MRKH after diagnostic laparoscopy. MRKH is very commonly associated with renal agenesis. It had a huge psychological impact in the women and her family. The patient was advised vaginoplasty, and surrogacy or child adoption as an option.

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Mayer–Rokitansky–Kuster–Hauser syndrome: Syndrome of Mullerian agenesis – A report of two cases

Cited by 5 publications

References 0 publications

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A Rare Case of Lung Hypoplasia, Cardiac Anomalies and Ovarian Tumour in a Patient with Mayer-Rokitansky-Küster-Hauser Syndrome

Type 2 Mayer-Rokitansky-Kusner-Hauser syndrome

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