Zelley: More Awareness Needed of Congenital Adrenal Hyperplasia
“The results of this study indicate a need for increased awareness of congenital adrenal hyperplasia (a common genetic disorder which primarily affects sexual development and fertility) among health care providers, patient and parent education regarding the diagnosis of CAH, and a multidisciplinary approach to treatment and management including genetic counseling to best meet the needs of women with CAH,” according to a poster presentation abstract by Kristin Zelley, Arcadia Univeristy Genetic Counseling student, at the National Society of GeneticCounselors’ (NSGC). “Investigating the Unmet Needs of Women with Congenital Adrenal Hyperplasia” was authored by K. Zelley1, K. Fitzgerald2, B. Bernhardt3. (1Arcadia University, 2The Children’s Hospital of Philadelphia, 3University of Pennsylvania).
“Congenital adrenal hyperplasia (CAH) is a common genetic disorder which primarily affects sexual development and fertility. The needs of patie nts with CAH have not been well-studied. The purpose of this study was to investigate the experiences of women with congenital adrenal hyperplasia, determine whether they have unmet needs, and discuss how these needs may be better met by genetic counselors and other health care professionals.
“Participants were recruited for telephone interviews through an advertisement in the newsletter of the CARES foundation, a non-profit organization that promotes awareness and research for CAH. The advertisement was also posted on a Facebook support group. Six semi-structured interviews were conducted. Participants were asked how they learned about their diagnosis, about their particular unmet needs, their experience with genetic counseling, and whether they had any suggestions for improvement in management and treatment. The interviews were recorded and transcribed, and analysis was performed by coding for common themes.
“The interviews revealed five common themes: communication about the diagnosis; misdiagnosis and doubt about the diagnosis; satisfaction with medical management; potential needs and recommendations; and genetic counseling and genetic knowledge. All participants reported that initial communication about the diagnosis by parents and doctors was inadequate, and sought outside sources of information including the internet and other affected individuals.
“Satisfaction with medical management was related to having a knowledgeable endocrinologist as well as receiving correct medications and doses for effective hormone regulation. Two of the women had met with a genetic counselor, and the other participants expressed that genetic counseling would be helpful. The results of this study indicate a need for increased awareness of CAH among health care providers, patient and parent education regarding the diagnosis of CAH, and a multidisciplinary approach to treatment and management including genetic counseling to best meet the needs of women with CAH.”