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Background <p>Laparoscopy myomectomy is the most commonly performed fertility enhancing laparoscopic surgery in patients with uterine factor infertility. Some myomas present as hereditary leiomyomatosis which is an autosomal dominant disorder associated with renal cell cancer tumor. This syndrome is caused by germline mutations in the fumarate hydratase (FH) gene. These hereditary myomas occur 10&#xa0;year earlier than sporadic one and also have predisposition to early onset, papillary aggressive renal cell cancer.</p> Case Presentation <p>We report the case of a of 33-year-old P1001 young lady diagnosed presented with symptomatic fibroid uterus managed with laparoscopic myomectomy and the histopathology report came out to be fumarate hydratase associated leiomyoma.</p> Discussion <p>This case underscores the rare occurrence of familial uterine leiomyoma manifesting in early reproductive years. Atypical feature of this case is that there was no family history in first degree relatives which is generally present in patients with mutations involving fumarate hydratase (FH) gene or other genetic pathways. Early recognition is essential for timely counseling, fertility preservation, and individualized management. Review of literature suggests that familial cases often present earlier, with larger and more numerous fibroids compared to sporadic cases.</p> Conclusion <p>Familial uterine leiomyoma, though rare, should be considered in young women with multiple fibroids and a positive family history. Genetic counseling and tailored treatment strategies may improve reproductive outcomes and reduce disease burden.</p>

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Familial Uterine Leiomyoma in a Young Female: A Rare Case Report with Review of Literature

  • 期刊论文

  • 发表日期：

    2026年5月19日

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  • Megha Kansara,
  • Manu Goyal,
  • Pratibha Singh,
  • Vikarn Vishwajeet

摘要

Background

Laparoscopy myomectomy is the most commonly performed fertility enhancing laparoscopic surgery in patients with uterine factor infertility. Some myomas present as hereditary leiomyomatosis which is an autosomal dominant disorder associated with renal cell cancer tumor. This syndrome is caused by germline mutations in the fumarate hydratase (FH) gene. These hereditary myomas occur 10 year earlier than sporadic one and also have predisposition to early onset, papillary aggressive renal cell cancer.

Case Presentation

We report the case of a of 33-year-old P1001 young lady diagnosed presented with symptomatic fibroid uterus managed with laparoscopic myomectomy and the histopathology report came out to be fumarate hydratase associated leiomyoma.

Discussion

This case underscores the rare occurrence of familial uterine leiomyoma manifesting in early reproductive years. Atypical feature of this case is that there was no family history in first degree relatives which is generally present in patients with mutations involving fumarate hydratase (FH) gene or other genetic pathways. Early recognition is essential for timely counseling, fertility preservation, and individualized management. Review of literature suggests that familial cases often present earlier, with larger and more numerous fibroids compared to sporadic cases.

Conclusion

Familial uterine leiomyoma, though rare, should be considered in young women with multiple fibroids and a positive family history. Genetic counseling and tailored treatment strategies may improve reproductive outcomes and reduce disease burden.