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Ovarian failure linked to gene mutation
A mutation of the SYCE1 gene has been identified as a cause of primary ovarian insufficiency, according to recent study findings published in the Journal of Clinical Endocrinology & Metabolism.
According to Liat de Vries, MD, of Tel Aviv University, and colleagues the mutation was previously shown to cause primary ovarian insufficiency (POI) in animals, but this is the first time it has been identified in humans.
“Researchers know that POI may be associated with Turner’s syndrome, a condition in which a women has only one X chromosome instead of two, or could be due to toxins like chemotherapy and radiation therapy,” de Vries said in a press release. “However, in 90% of the cases, the exact cause remains a mystery.”
The researchers conducted a family-based genetic study to evaluate two daughters diagnosed with POI born to first cousin parents. The daughters as well as their parents and four unaffected siblings had genotyping performed; it was also performed on 90 matched controls.
“One of my main topics of interest is puberty,” de Vries said. “The clinical presentation of the two sisters, out of 11 children of first-degree cousins, was interesting. In each of the girls, POI was expressed differently. One had reached puberty and was almost fully developed but didn’t have menses. The second, 16 years old, showed no signed of development whatsoever.”
Homozygous mutations were identified in the daughters diagnosed with POI whereas a healthy sister was homozygous for a wild-type allele. The parents and three brothers were heterozygous for a normal and disease allele. None of the samples from the controls contained a mutation.
“By identifying the genetic mutation, we saved the family a lot of heartache by presenting evidence that any chance of inducing fertility in these two girls is slight,” de Vries said. “As bad as the news is, at least they will not spend years on fertility treatments and will instead invest efforts in acquiring an egg donation, for example. Knowledge is half the battle — and now the entire family knows it should undergo genetic testing for this mutation.”
Disclosure: The researchers report no relevant financial disclosures.