ArticleGynecologic oncology reports2017
Two sisters with Mayer-Rokitansky-Küster-Hauser syndrome and serous adenocarcinoma of the ovary.
Article in Gynecologic oncology reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed.
- Laparoscopic intervention for solid pelvic tumours in Mayer-Rokitansky-Küster-Hauser syndrome: a case of bilateral uterine adenomyomas of the rudimentary uterus.BMJ case reports · 2023Article
- Herlyn-Werner-Wunderlich syndrome with borderline serous cystadenoma of the ovary: case report and literature review.Radiology case reports · 2021Article
- Co-occurrence of Mayer-Rokitansky-Küster-Hauser syndrome and ovarian cancer: A case report and review of the literature.Gynecologic oncology reports · 2019Article
- Diagnosis and Management of Ovarian Tumor in Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome.BioMed research international · 2018Review
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Authors and funding
4 authors.
Funding
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Abstract
backgroundMayer-Rokitansky-Küster-Hauser syndrome is a rare entity with proposed genetic underpinnings. Ovarian carcinoma has well-described genetic associations and syndromes, although much of the etiology of the disease remains unknown. CASES: Two sisters present in the 1970s with primary amenorrhea, 46, XX karyotypes, and absent uteri consistent with MRKH syndrome. In the 2010s, both sisters again present for care. Case 1 presents one sister with stage IIIC serous ovarian adenocarcinoma and negative BRCA panel. Case No 2 presents the other sister with stage IIIC serous ovarian adenocarcinoma and a negative panel for 32 genetic variants associated with ovarian carcinoma.
conclusionThe familial association of two rare diseases and negative genetic workup could point to a new genetic understanding of reproductive structure development and ovarian carcinogenesis.
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