46,XY DSD with Female or Ambiguous External Genitalia at Birth due to Androgen Insensitivity Syndrome, 5α-Reductase-2 Deficiency, or 17β-Hydroxysteroid Dehydrogenase Deficiency: A Review of Quality of Life Outcomes

Amy B Wisniewski,Tom Mazur

doi:10.1155/2009/567430

Abstract

Disorders of sex development refer to a collection of congenital conditions in which atypical development of chromosomal, gonadal, or anatomic sex occurs. Studies of 46,XY DSD have focused largely on gender identity, gender role, and sexual orientation. Few studies have focused on other domains, such as physical and mental health, that may contribute to a person's quality of life. The current review focuses on information published since 1955 pertaining to psychological well-being, cognition, general health, fertility, and sexual function in people affected by androgen insensitivity syndromes, 5-α reductase-2 deficiency, or 17β-hydroxysteroid dehydrogenase-3 deficiency—reared male or female. The complete form of androgen insensitivity syndrome has been the focus of the largest number of investigations in domains other than gender. Despite this, all of the conditions included in the current review are under-studied. Realms identified for further study include psychological well-being, cognitive abilities, general health, fertility, and sexual function. Such investigations would not only improve the quality of life for those affected by DSD but may also provide information for improving physical and mental health in the general population.

Highlights

Disorders of sex development (DSD) refer to a collection of congenital conditions in which atypical development of sex occurs at one or more levels
Much remains to be learned concerning psychosexual development as it relates to DSD, the purpose of this paper is to review what is known about aspects of physical and mental health that contribute to overall quality of life (QoL) beyond GI/R and sexual orientation
Of the 35 studies reviewed that included outcomes information apart from gender, 24 included information about CAIS, 9 about PAIS, 11 about 5α reductase-2 deficiency (5α-RD-2) deficiency, and 5 about 17β-HSD-3 deficiency

Summary

Introduction

Disorders of sex development (DSD) refer to a collection of congenital conditions in which atypical development of sex occurs at one or more levels (chromosomal, gonadal, anatomic). Studies of 46,XY DSD have focused largely on aspects of gender development such as satisfaction with gender of rearing, sexual orientation, gender identity, and gender role (GI/R) [1]. Very few studies have reported on additional aspects of physical or mental health despite the fact that patients and families often inquire about such topics. Few studies have addressed the question of if, or how, a DSD diagnosis and related treatment impact quality of life (QoL) for affected individuals. For the purpose of this review, QoL can be operationally defined as the amount of enjoyment a person experiences in the physical, psychological, social, and spiritual dimensions of their life [2]

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