Androgen insensitivity syndrome (AIS): Emotional reactions of parents and adult patients to the clinical diagnosis of AIS and its confirmation by androgen receptor gene mutation analysis

The emotional reactions of parents and adult patients on disclosure of the clinical diagnosis of androgen insensitivity syndrome (AIS) and its later c onfirmation by gene mutation analysis were assessed. A semistructured inter view and three questionnaires were used. Parents came from 18 different fam ilies with a total of 20 children (15 complete AIS, 5 partial AIS), 19 rais ed as girls, 1 as a boy. Ten adult women with complete AIS came from six fa milies. The short-term reaction upon the clinical diagnosis was in the majo rity of both parents and adult patients associated with shock, grief, anger , and shame and in the mothers and adult patients with guilt. Emotional rea ctions were more long-lasting in mothers and adult patients than in fathers . The confirmation by DNA analysis did not alter the actual feelings of bot h parents. Adolescents with AIS should be informed completely - but in a st ep-by-step way - about their condition, since adult patients indicated that they had suffered from being not at all or misinformed about AIS in their adolescence. Copyright (C) 2000 S. Karger AG, Basel.