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Disease Profile

Ovarian sex cord tumor with annular tubules

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

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ICD-10

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Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Ovarian sex cord-stromal tumor

Summary

An ovarian sex cord tumor with annular tubules (SCTAT) is a tumor that grows from cells in the ovaries known as sex cord cells. As these cells grow, they form tube-like shapes in the tumor.[1] SCTATs can develop in one or both ovaries, and may cause symptoms such as puberty at an exceptionally young age (precocious puberty), irregular menstrual cycles, or post-menopausal bleeding.[1][2] Most ovarian SCTATs are benign.[1][2] However, because there is a chance that an SCTAT may be malignanttreatment may include surgery to remove the tumor.[2]

Cause

Approximately one third of ovarian sex cord tumors with annual tubules (SCTATs) develop because of an underlying genetic condition called Peutz Jeghers syndrome (PJS), which is caused by a mutation in the STK11 gene. In these genetic cases, many small SCTATs develop in both ovaries and are almost always benign. The remaining two thirds of ovarian SCTATs are not related to a genetic condition and develop as a single tumor in one ovary; up to 25% of SCTATs in this group may be malignant. Ovarian SCTATs not related to PJS have no known cause and are believed to occur by chance.[1]

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

References

  1. Esheba GE. Sex Cord Stromal Ovary Tumor Pathology. Medscape. 2013; https://emedicine.medscape.com/article/1627984-overview#aw2aab6b6. Accessed 11/22/2014.
  2. Lim GSD, Oliva E. Sex Cord Stromal Tumors of the Ovary. Diagnostic Pathology of Ovarian Tumors. 2011; 193-234. https://link.springer.com/chapter/10.1007%2F978-1-4419-9751-7_14. Accessed 11/22/2014.

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