Dataset Information

Mayer-Rokitansky-Kuster-Hauser Syndrome: A rare case report from Nepal

ABSTRACT:

Introduction

Mayer-Rokitansky-Kuster-Hauser Syndrome (MRKHS) is a rare congenital disorder with an incidence of 1 in 5000 females. It is characterized by uterovaginal aplasia with normal secondary sexual characteristics and genetic karyotype 46XX. The exact etiology of MRKH syndrome is not known.

Case presentation

We report a case of type 2 MRKHS with agenesis of left kidney.

Discussion

The diagnosis of MRKH mainly depends on imaging study. Transabdominal ultrasonography is the first line investigation but abdomino-pelvic MRI gives more precise and clear information than the prior. So, we suggested our patient to do MRI even though she had done ultrasonography earlier. The differential diagnosis includes congenital vaginal agenesis, low transverse vaginal septum, androgen insensitivity, and imperforate hymen.

Conclusion

This case presents that MRKH syndrome can occur with normal endocrine function and secondary sexual characteristics. Surgical correction by creating a neovagina is a good treatment method in young females for sexual intercourse. Highlights • MRKH syndrome can occur with normal endocrine function and secondary sexual characteristics.• Surgical correction by creating a neovagina is a good treatment method in young females for sexual intercourse.

SUBMITTER: Ray U

PROVIDER: S-EPMC9577869 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature

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Project description:BACKGROUND:Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, also referred to as Müllerian aplasia, is a congenital disorder characterized by aplasia of the uterus and upper part of the vagina in females with normal secondary sex characteristics and a normal female karyotype (46,XX). MAIN BODY:The diagnosis is often made during adolescence following investigations for primary amenorrhea and has an estimated prevalence of 1 in 5000 live female births. MRKH syndrome is classified as type I (isolated uterovaginal aplasia) or type II (associated with extragenital manifestations). Extragenital anomalies typically include renal, skeletal, ear, or cardiac malformations. The etiology of MRKH syndrome still remains elusive, however increasing reports of familial clustering point towards genetic causes and the use of various genomic techniques has allowed the identification of promising recurrent genetic abnormalities in some patients. The psychosexual impact of having MRKH syndrome should not be underestimated and the clinical care foremost involves thorough counselling and support in careful dialogue with the patient. Vaginal agenesis therapy is available for mature patients following therapeutical counselling and education with non-invasive vaginal dilations recommended as first-line therapy or by surgery. MRKH syndrome involves absolute uterine factor infertility and until recently, the only option for the patients to achieve biological motherhood was through gestational surrogacy, which is prohibited in most countries. However, the successful clinical trial of uterus transplantation (UTx) by a Swedish team followed by the first live-birth in September, 2014 in Gothenburg, proofed the first available fertility treatment in MRKH syndrome and UTx is now being performed in other countries around the world allowing women with MRKH syndrome to carry their own child and achieve biological motherhood. CONCLUSION:Several advances in research across multiple disciplines have been made in the recent years and this kaleidoscopic review provides a current status of various key aspects in MRKH syndrome and provides perspectives for future research and improved clinical care.