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Girls born with a genetic defect that leads to infertility may yet be able to have children when they reach adulthood, according to researchers in Sweden.
Turner syndrome occurs when a female is born with one X chromosome instead of two. Usually they stop growing prematurely and their ovaries shut down at an early age. In some cases, however, it may be possible to retrieve ovarian tissue containing immature eggs, freeze and store it, and later produce eggs for in vitro fertilization.
Puberty starts spontaneously in 15-30 percent of girls with Turner syndrome. However, only 2-5 percent of them start menstruating “with the possibility of achieving pregnancy,” Dr. Birgit Borgstrom and colleagues write in the Journal of Clinical Endocrinology and Metabolism.
They explain that this means that some young teenage girls with Turner syndrome have ovarian follicles, which would normally develop into eggs, but that they disappear prematurely.
Borgstrom, at Karolinska University Hospital Huddinge, Stockholm, and her associates investigated further by studying 57 girls with Turner syndrome, 8 to 20 years of age.
Forty-seven of the girls had ovaries large enough to obtain a biopsy specimen, and this showed that 15 of them had ovarian follicles.
Borgstrom’s team recommends discussing biopsy and the possibility of preserving ovarian tissue for the future when a girl with Turner syndrome is 13 or 14 years old.
The discussion should include information about the risks associated with pregnancy, the possibility of chromosomal abnormalities in their offspring, and that “there is no guarantee for biological children in the future.”
The investigators note that “recruitment of the girls for this study was easy. There seems to be a strong desire to do all that is technically possible to have the opportunity to undergo fertility treatment in the future.”
SOURCE: Journal of Clinical Endocrinology and Metabolism, January 2009.