Doctors at Tel Aviv’s Sourasky Medical Center (Ichilov Hospital) have frozen the eggs of a 7-year-old girl with a rare genetic condition to preserve her fertility, using a technique never used before on a child this young. The girl has Turner syndrome, whose symptoms include damage to the ovaries and infertility.
The case was presented recently at a conference of the International Federation of Fertility Societies and will be published.
Turner syndrome, which affects one of 2,500 women, is a genetic syndrome caused by the absence of one of the X chromosomes. The disease causes systemic damage that can be reflected in symptoms that include heart defects, hormonal and urinary tract problems.
Females with the syndrome can also develop distinctive physical features including a short neck with a webbed appearance, a low hairline at the back of the head, low-set ears and narrow fingernails and toenails that turn upward. The disease may cause premature loss of ovarian function, and only about 3 percent of girls who have it can become pregnant without intervention.
“In general, adolescent girls undergo a process to preserve fertility by means of hormonal stimulation. In other words, only after sexual maturity and no earlier,” explains Prof. Foad Azem, director of the hospital’s IVF unit, fertility preservation service and egg donation service, who administered the treatment.
“Usually it is carried out in two cases: when a girl with normal ovaries is suffering from cancer, and there’s a fear that the treatments will damage her fertility, and in cases of girls with Turner syndrome, in whom damage to ovarian functioning is usually discovered due to a failure to menstruate.”
Awad said that the usual treatment for preadolescent girls is cutting and freezing pieces of ovarian tissue.
“The basic assumption was that in girls who are not adolescents the ovaries are inactive, and therefore hormonal stimulation can’t cause maturation of follicles in the ovary,” he explains. “That’s why the usual procedure is freezing pieces of ovarian tissue, which can be implanted in the future. If the doctors were lucky, they could also retrieve eggs, some of which would mature, from the ovarian tissue.”
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Azem said that the damage to ovarian function in many Turner syndrome patients appears at a very young age. “We encounter girls of 14 and even younger with very poor ovarian function, from whose body it is hard to retrieve pieces of ovary or normal eggs,” he says.
However, fertility preservation definitely provides a solution, and women suffering from the syndrome are able to become pregnant and to give birth as adults. “The syndrome itself isn’t hereditary, and children can be born totally healthy,” he explains.
The girl and her parents came to Ichilov when she was 6 years and eight months old. She had been diagnosed with a “Turner’s mosaic,” in which the missing chromosome appears in some of the cells.
“In most cases we faced a dilemma, as opposed to adolescent girls or more mature women, we couldn’t estimate the damage to the ovarian reserve. If the damage already exists, the freezing of pieces of the ovary would be useless.” Finally, with the parents’ support, they decided to try to retrieve eggs, as is usually done at a later age.
Because the procedure is unprecedented in such a young girl, they consulted with several experts and with the hospital’s ethics committees, and only after their approval was it carried out.
First ovarian stimulation was performed. “She received hormonal injections like older girls or women, and to our surprise we saw a development of follicle. In effect we activated the ovary in a 7-year-old.” The eggs were retrieved with a very fine needle through the girl’s abdomen, and six eggs were frozen.
Azem says that the doctors were not worried that the hormones would lead to early sexual maturity. The girl could later choose to undergo another round of treatment to retrieve more eggs and increase her future chances of becoming pregnant.