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A group of physicians from Modena, Italy published a case report about the early prenatal diagnosis of 46XY partial gonadal dysgenesis in the recent issue of Prenatal Diagnosis. The case involves a pregnant woman whose first son had partial mixed gonadal dysgenesis, who came in to test her fetus for the recurrence of the same condition. Combining sonography and karyotype testing, doctors determined the female genital structure, 46XY karyotype, and disturbed functioning of testes indicating that the fetus, like his/her brother, has partial mixed gonadal dysgenesis. Doctors proposed the parents that the child be raised as a girl, explaining that "it is possible to treat with appropriate means and to enable a good quality of life," but the parents chose to terminate the pregnancy.
We do not know for certain why the parents chose to have an abortion, but it may have to do with the traumatic process their older child had to go through. According to the article, the child went through laparotomy (to examine the intra-abdominal gonads) at age three, bilateral gonadectomy at age four, and masculinizing genitoplasty at age six--all before he was old enough to understand the procedure. In addition, he was repeatedly brought into hospital to measure levels of various hormones, to look for possible mutations of SRY and the androgen receptor gene, and to analyze DNA sequences for any abnormality. There is no mention of any counseling or psychological support provided to the child or the parents--which explains why the parents may have felt that it was unbearable to raise another child with partial mixed gonadal dysgenesis.
Doctors are absolutely correct in insisting that it is possible for a person with mixed gonadal dysgenesis to have a good quality of life, but that needs to be enabled by social and psychological support for parents and children dealing with the medical condition, not by giving the false promise that surgical treatment will solve all of the problems. In the absence of appropriate social and psychological support, early prenatal diagnosis will only coerce women to "choose" socially imposed devaluation of the fetus with stigmatized but livable conditions.
Source:
Mazza V, Ottolenghi C, Di Monte I, Baldassari F, Rivasi F, Volpe A, Forabosco A. "Early prenatal diagnosis of recurrent 46, XY partial gonadal dysgenesis." Prenatal Diagnosis 2003; 23:716-721.
Posted by Emi on Oct 3, 2003