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

Abstract

The emotional reactions of parents and adult patients on disclosure of the clinical diagnosis of androgen insensitivity syndrome (AIS) and its later confirmation by gene mutation analysis were assessed. A semistructured interview and three questionnaires were used. Parents came from 18 different families with a total of 20 children (15 complete AIS, 5 partial AIS), 19 raised as girls, 1 as a boy. Ten adult women with complete AIS came from six families. The short-term reaction upon the clinical diagnosis was in the majority of both parents and adult patients associated with shock, grief, anger, and shame and in the mothers and adult patients with guilt. Emotional reactions were more long-lasting in mothers and adult patients than in fathers. The confirmation by DNA analysis did not alter the actual feelings of both parents. Adolescents with AIS should be informed completely – but in a step-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.

Fear of devaluation: Understanding the experience of intersexed women with androgen insensitivity syndrome

“…In line with Slijper et al (2000), our study indicates that parents have their own adjustments to make in relation to AIS echoing research which suggests that feelings of guilt, especially in the case of congenital conditions, can increase distress within the family (Hunfeld, Wladimiroff, Passchier, Venema-Van Uden, Frets, & Verhage, 1993). Parents may experience psychological reactions such as FEAR OF DEVALUATION of themselves or their child and are surely influenced by the way the condition is discussed and treated within the medical environment.…”

“…AIS is one of the most common intersex disorders and subsumes the largest group of XY women; people with a female phenotype (apparent gender) and XY karyotype (chromosomal pattern usually associated with males). It has been estimated that female carriers have a 25% chance of bearing an affected 46XY child (Slijper, Frets, Boehmer, Drop & Niermeijer, 2000), however some cases arise as spontaneous mutations. AIS comprises two androgen resistance syndromes;…”

Gender Dysphoria and Gender Change in Androgen Insensitivity or Micropenis

“…from the most recently published studies (Hines, Ahmed, & Hughes, 2003;Hooper et al, 2004;Melo et al, 2003;Slijper, Frets, Boehmer, Drop, & Niermeijer, 2000;Wisniewski et al, 2000). None of these individuals initiated a gender reassignment to male.…”

Androgen Insensitivity Syndrome (AIS)

“…5,90 This approach has largely been abandoned in favour of partial or full disclosure. 91,92 One study 93 that explored the emotional reactions of parents and adult patients to clinical diagnosis of androgen insensitivity syndrome showed a range of responses including shock, grief, and anger in both mothers and adult patients. An investigation 94 of disorders of sex development in which adults with complete androgen insensitivity syndrome formed the largest diagnostic group, showed that younger women with the syndrome were better informed than were older women with the syndrome; many had full disclosure by 15 years of age.…”