Primary Caregivers of Children Affected by Disorders of Sex Development: Mental Health and Caregiver Characteristics in the Context of Genital Ambiguity and Genitoplasty

The term Disorders of Sex Development (DSD) refers to congenital conditions in which development of chromosomal, gonadal, and phenotypic sex is discordant [1]. Studies have demonstrated higher levels of psychological distress and poorer sexual quality of life in people with DSD compared to unaffected individuals [1–4], although the reasons for these differences are unclear. Limited research has been conducted on how having a child with a DSD affects caregivers, especially with regard to their mental health and parenting characteristics [5]. In the extant chronic medical illness literature, researchers have found that parents of children with a chronic illness are at risk for (1) exhibiting levels of overprotection, (2) perceiving their child as more vulnerable than others, and (3) reporting significant levels of parenting stress [6–9]. Importantly, these parental characteristics are predictive of children's emotional, behavioral, and social adjustment [10, 11].Rearing a child in whom genital ambiguity persists versus opting for genitoplasty (clitoroplasty, vaginoplasty, or hypospadias repair) before a child can assent to such procedures is a challenge for caregivers of children with DSD [12]. The 2006 consensus statement on DSD notes "It is generally felt that surgery that is performed for cosmetic reasons in the first year of life relieves parental distress and improves attachment between the child and parent etc."[1]. Indirect evidence for this is provided by the fact that some parents choose early genitoplasty for their children despite the acknowledged risk to sexual function resulting from such procedures [13, 14]. The aim of the present study was to determine the related impact of having a child born with a DSD including ambiguous external genitalia, as well as the decision to have early genitoplasty for that child, on the mental health status and parenting characteristics of primary caregivers.Primary caregivers of children with DSD were invited to participat