Ethical and Legal Implications of Genetic Testing in Androgen Insensitivity Syndrome

Berg, Jonathan S.; French, Shannon L.; McCullough, Laurence B.; Kleppe, Soledad; Sutton, Vernon R.; Gunn, Sheila K.; Karaviti, Lefkothea P.

doi:10.1016/j.jpeds.2006.12.037

« Previous Next »The Journal of Pediatrics
Volume 150, Issue 4 , Pages 434-438, April 2007

Ethical and Legal Implications of Genetic Testing in Androgen Insensitivity Syndrome

Jonathan S. Berg, MD, PhD
- Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX
Shannon L. French, MD
- Department of Pediatrics, Division of Endocrinology and Metabolism, Baylor College of Medicine and Texas Children’s Hospital, Houston, TX
Laurence B. McCullough, PhD
- Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX.
Soledad Kleppe, MD
- Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX
Vernon R. Sutton, MD
- Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX
Sheila K. Gunn, MD
- Department of Pediatrics, Division of Endocrinology and Metabolism, Baylor College of Medicine and Texas Children’s Hospital, Houston, TX
Lefkothea P. Karaviti, MD, PhD
- Department of Pediatrics, Division of Endocrinology and Metabolism, Baylor College of Medicine and Texas Children’s Hospital, Houston, TX
- Reprint requests: Dr Lefkothea P. Karaviti, MD, PhD, Texas Children’s Hospital Clinical Care Center, 6621 Fannin, Houston, TX 77030.

Received 23 August 2006; received in revised form 14 November 2006; accepted 13 December 2006.

In many instances, the establishment of a genetic diagnosis in a patient reveals specific or potential genetic information about biologically related individuals. With the large number of genetic tests now available, all physicians must have a working understanding of ethical considerations involved in genetic testing. Here we report on an extended family consisting of numerous members who are likely affected with X-linked androgen insensitivity syndrome (AIS). Individuals with AIS have a 46,XY chromosome complement but are unresponsive to androgens because of mutations in the gene encoding the androgen receptor (AR), resulting in an undervirilized or completely female external phenotype. The proband in this case was identified at 2 months of age when the patient presented with an inguinal hernia that was found to contain testicular tissue. Family history revealed that several additional women in the extended family likely are affected with AIS. Because of the possible health risks associated with AIS, provision of genetic testing for other at-risk family members could be considered an ethical responsibility of the health care team. However, after careful consideration of the relevant ethical issues, we identified a surprising precedent related to the legal definition of sex, raising concerns about the legal implications of genetic testing in other family members.

Abbreviations: AIS, Androgen insensitivity syndrome, AR, Androgen receptor, CAIS, Complete androgen insensitivity syndrome, PAIS, Partial androgen insensitivity syndrome