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Co-occurrence of Mayer-Rokitansky-Kuster-Hauser syndrome and ovarian cancer: A case report and review of the literature.

ABSTRACT: Background:Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) is a congenital disorder of yet unknown etiology, characterized by agenesis/hypoplasia of the müllerian duct system. The occurrence of ovarian cancer (OC) in MRKHS is rare, with <20 cases reported to date. Case:A woman affected with MRKHS, developed an abdominal mass at the age of 33?years. Surgical examination revealed a blind vagina, small rudimentary uterus, two fully developed tubes and large bilateral ovarian tumors. The histological diagnosis was a low-grade serous carcinoma (LGSOC) of both ovaries, staged IIB. The patient showed a normal female karyotype and resulted negative at the BRCA1/2 genetic testing. Conclusion:This is the first report of a LGSOC in a patient with MRKHS. Although the identification of familial cases with both MRKHS and OC raised the hypothesis of a common genetic origin, further data and reports of additional cases are needed in order to assess a possible association of the two conditions.

SUBMITTER: Villa R

PROVIDER: S-EPMC6431729 | biostudies-literature | 2019 May

REPOSITORIES: biostudies-literature

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Co-occurrence of Mayer-Rokitansky-Küster-Hauser syndrome and ovarian cancer: A case report and review of the literature.

Villa Roberta R Azzollini Jacopo J Peissel Bernard B Manoukian Siranoush S

Gynecologic oncology reports 20190317

<h4>Background</h4>Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) is a congenital disorder of yet unknown etiology, characterized by agenesis/hypoplasia of the müllerian duct system. The occurrence of ovarian cancer (OC) in MRKHS is rare, with <20 cases reported to date.<h4>Case</h4>A woman affected with MRKHS, developed an abdominal mass at the age of 33 years. Surgical examination revealed a blind vagina, small rudimentary uterus, two fully developed tubes and large bilateral ovarian tumors. ...[more]

PMID: 30957000

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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.

Dataset Information

Co-occurrence of Mayer-Rokitansky-Kuster-Hauser syndrome and ovarian cancer: A case report and review of the literature.

Publications

Co-occurrence of Mayer-Rokitansky-Küster-Hauser syndrome and ovarian cancer: A case report and review of the literature.

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