National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Hydatidiform mole

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DICER1 syndrome runs in my husband's family. I realize research on DICER1 syndrome is still being conducted and evolving, but is it possible DICER1 mutations play a role in molar pregnancy or in male infertility in general?
It is possible that DICER1 mutations affect male fertility, however studies in this area are very preliminary. In mice, it has been shown that the deletion of the DICER1 gene or inactivation of the Dicer protein affect sperm production, resulting in absent, decreased amounts, or abnormal sperm.[1][2][3]

We did not find information in our search regarding an association between DICER1 gene mutations and molar pregnancy specifically. "Partial" molar pregnancies can be caused by fertilization by an abnormal sperm (one with two copies of chromosomes). It can also be caused by fertilization with two normal sperm.

"Complete" molar pregnancies are thought to occur when the mother's chromosomes are lost and the father's chromosomes are duplicated. Complete molar pregnancy can also occur if the egg has no nucleus (the part of the cell that holds the chromosomes) or an inactive nucleus.[4]

You can learn more about molar pregnancy through the following Web sites:

Hydatidiform mole (MedlinePlus.gov)
Molar Pregnancy (Mayo Foundation for Medical Education and Research)
Hydatidiform Mole (The Merck Manual)
Last updated: 8/25/2015

We hope this information is helpful. We strongly recommend you discuss this information with your doctor. If you still have questions, please contact us.

Warm regards,
GARD Information Specialist

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  1. Greenlee AR et al.,. Deregulated sex chromosome gene expression with male germ cell-specific loss of Dicer1.. PLoS One. 2012; 7(10)::e46359. http://www.ncbi.nlm.nih.gov/pubmed/23056286. Accessed 8/25/2015.
  2. Zimmermann C et al.,. Germ cell-specific targeting of DICER or DGCR8 reveals a novel role for endo-siRNAs in the progression of mammalian spermatogenesis and male fertility. PLoS One. 2014 Sep 22; 9(9):e107023. http://www.ncbi.nlm.nih.gov/pubmed/25244517. Accessed 8/25/2015.
  3. Wang H et al.,. Gonadotrope-specific deletion of Dicer results in severely suppressed gonadotropins and fertility defects. J Biol Chem. 2015 Jan 30; 290(5):2699-714. Accessed 8/25/2015.
  4. Molar Pregnancy. MayoClinic. October 24, 2014; http://www.mayoclinic.org/diseases-conditions/molar-pregnancy/basics/risk-factors/con-20034413. Accessed 8/25/2015.
  5. Björkgren I, Sipilä P. The role of Dicer1 in the male reproductive tract. Asian J Androl. 2015 May 19; http://www.ajandrology.com/preprintarticle.asp?id=155542. Accessed 8/25/2015.