Send message to Author

Paper short abstract:

I will present ethnographic research on two genetic diseases, associated with disorder of sex development: Turner syndrome and congenital adrenal hyperplasia. I will ask: how parents manage knowledge on diagnosis? What is hidden from children in the context of these bodily conditions?

Paper long abstract:

My presentation will be based on ethnographic research on two genetic diseases, associated with the disorder of sex development: Turner syndrome (TS) and congenital adrenal hyperplasia (CAH). TS affects only girls and involves a partial or complete absence of an X chromosome. Some characteristics of TS include short stature, ovarian failure, and as a result infertility. Usually, TS requires estrogen replacement therapy and growth hormone treatment. The diagnosis is usually made in childhood.

CAH is an inherited condition which prevents the adrenal glands functioning correctly, and they produce too much testosterone, they also might not make enough cortisol, and aldosterone. CAH is associated with androgenization of the body, which translates into masculinization of the female genital organs, often followed by surgical correction of organs. It affects also males, but they do not have ambiguous genitalia. Both genders can experience other symptoms such as early onset of puberty, or short stature. Patients must take daily life-long medication. In Poland, all newborns are screened for CAH and its treatment is usually implemented quickly and effectively.

In my presentation I will scrutinize how the child is informed about the diagnosis. How parents manage knowledge on TS and CAH? To what extent the knowledge about the medical condition belongs to the child, and to what extent to the adults? What is hidden and what is revealed from children? What is the significance of a secret or an understatement in the face of a chronic condition that requires numerous medical interventions?