This study investigated the symptom of recurrent leg pain of unknown aetiology (PUA) in children and adolescents with 22q11 deletion. A leg pain questionnaire was designed and administered to 300 patients with 22q11 deletion and to 4507 school children. Replies were received from 119 patients (Return rate 39.6%) and from 1391 school children (Return rate 30.8%). A standard battery of clinical tests was applied to 108 patients with 22q11 deletion and mechanical therapy of diagnosed biomechanical foot abnormalities was instituted. The prevalences of PUA, sleep disturbance and exercise intolerance were found to be significantly higher in patients with 22q11 deletion compared with children of the general population. The clinical picture of PUA is reported and the previously unrecorded association between PUA, sleep disturbance and exercise intolerance is demonstrated in patients with 22q11 deletion. The implications of the differences in the clinical picture and the symptom association between the two populations are discussed. The ages of 8-9 years and 12-13 years emerged as periods during which a possible significant change may occur leading to a dramatic change in the prevalence of PUA, sleep disturbance and exercise intolerance. The clinical study reports the prevalence of biomechanical foot abnormalities in children with 22q11 deletion and presents evidence of the efficacy of mechanical therapy in alleviating patient’ symptoms. The association between biomechanical foot abnormalities and PUA, sleep disturbance and exercise intolerance is explored. This work suggests a possible multifactonal aetiology for the symptoms of PUA, sleep disturbance and exercise intolerance in patients with 22q11 deletion and recommends biomechanical assessment and mechanical therapy if appropriate for symptomatic patients

XY-women with conditions such as Androgen Insensitivity Syndrome (AIS) have male sex chromosomes, internal (abdominal) testicular or gonadal streak tissue, and no ovaries or (usually) uterus, but are otherwise female in body form and gender identity/role. Many have no reason to doubt a female sex until they are investigated for failure to menstruate. Using mixed-method (quantitative and qualitative) empirical methodology, the study reveals how XY-women discovered their diagnosis, with an in-depth analysis of the medical and societal discourses that shaped the labels/identities to which they have been subjected or they have assumed. Data was collected by questionnaire from 114 women recruited via a peer support group. The study is interdisciplinary, spanning medicine, psychology, sociology and feminist gender theory. It is informed by a range of theories including patriarchy and medicalisation (including terminology issues), sexual dimorphism, sex versus gender, social construction, abjection, self-surveillance and performativity, and sexual difference and corporeality. Many participants had experienced diagnostic secrecy by doctors, particularly in N. America. Younger participants had benefited from a recent move to truth disclosure. Participants had found the androcentric medical discourse/terminology difficult to reconcile with their female appearance, identity and social role; and did not approve of the degree of medicalisation. Infertility was the greatest personal concern but most thought that possession of a vagina was society's main criterion for womanhood. Most seemed secure in their female gender, although some were aware of a degree of performativity. Knowledge of their male biological attributes seemed problematic for many (especially those with Swyer Syndrome1), with expressions of inauthenticity, fraud or freakishness by some. Participants showed little awareness of gender theory and even the idea of a sex versus gender conceptual split seemed confusing for many, but clearer to those in N. America. The majority seemed to construct a totally female sex, although some entertained the idea of an intersexed sex, particularly those in N. America and those with a lesbian or bisexual orientation. The lesbian/bisexual sub-group, and those with a PAIS diagnosis, also showed the greatest awareness of gender performativity. Advocacy is a key aspect of the project, developing the argument that the androcentric focus of intersex medicine and the poor provision of clinical psychology restricts the opportunities for these patients to explore alternative discourses and non-medical meanings of their diagnosis. 1. But needs clarifying using a larger sample.