Abstract

Backgrounddsd-LIFE is a comprehensive cross-sectional clinical outcome study of individuals with disorders/differences of sex development (DSD). This study focuses on various rare genetic conditions characterized by impaired gonadal or adrenal functionality.Methods/DesignThe study aims to assess quality of life (QoL) as a measure of psychosocial adaptation, psychosexual and mental health aspects as major outcomes. Health status and functioning, medical and surgical therapies, participants’ views on health care, psychological and social support, sociodemographic factors and their interrelations will be investigated as factors associated with the outcomes. In addition, ethical considerations in the field of DSD are addressed and previous experiences with health care were gathered. One thousand and forty participants with different DSD conditions were recruited by 14 study centres in 6 European countries (France, Germany, the Netherlands, Poland, Sweden and the United Kingdom) from February 2014 until September 2015. The conditions included were: Turner syndrome (n = 301); 45,X0/46,XY conditions (n = 45); Klinefelter syndrome (n = 218); 47,XYY (n = 1); 46,XY gonadal dysgenesis/ovotestes (n = 63); complete androgen insensitivity (CAIS) (n = 71); partial androgen insensitivity (PAIS) (n = 35) and androgen synthesis disorders (n = 20); severe hypospadias (n = 25); other or non-classified 46,XY DSD (n = 8); 46,XX congenital adrenal hyperplasia (CAH) (n = 226); 46,XX gonadal dysgenesis/ovotestis (n = 21); and 46,XX in males (n = 6). For an add-on study, 121 46,XY male-assigned individuals with CAH due to 21-hydroxylase deficiency were recruited. Mean age of participants’ was 32.4 (+/− 13.6 years).DiscussionParticipation was high in conditions not commonly described as DSD, such as Turner and Klinefelter syndromes or CAH. Recruitment of individuals with XY DSD conditions proved to be more difficult. The data collection of PROs resulted in high data quality. Within medical and physical examination data, more missings and/or inaccurate data were found than expected. The European dsd-LIFE study recruited and evaluated the largest cross-sectional sample of individuals with different conditions classified under the term DSD. The data from this large sample will provide a sufficient basis for evidence-based recommendations for improvement of clinical care of individuals affected by a DSD condition.Trial registrationGerman Clinical Trials Register DRKS00006072.

Highlights

  • Rare conditions – Disorders/differences in sex development “Disorders/differences of sex development (DSD)” is used as an umbrella term for various rare conditions that are characterized by an incongruence of chromosomal, gonadal and genital sex development

  • The data from this large sample will provide a sufficient basis for evidence-based recommendations for improvement of clinical care of individuals affected by a DSD condition

  • The classification of DSD distinguishes three major groups: (1) DSD with atypical sex chromosome configurations, including Turner syndrome (45,X0 and mosaicisms), Klinefelter syndrome (47,XXY and mosaicisms) and conditions with 45,X/46,XY or 46,XX/46,XY karyotypes; (2) XY DSD, encompassing conditions characterized by 46,XY karyotype and impairment of testicular development, androgen biosynthesis or action, antimuellerian hormone (AMH) biosynthesis or action, hypospadias, cloacal exstrophy and other syndromic forms; (3) XX DSD, comprising conditions characterized by 46,XX karyotype and androgen excess, such as congenital adrenal hyperplasia, P450 oxidoreductase deficiency, aromatase deficiency or exogenous causes, impairment of ovarian, uterine or vaginal development and other syndromic forms [1]

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Summary

Introduction

Rare conditions – Disorders/differences in sex development “Disorders/differences of sex development (DSD)” is used as an umbrella term for various rare conditions that are characterized by an incongruence of chromosomal, gonadal and genital sex development. The term DSD and a new system for nomenclature were introduced by the Chicago Consensus Group in 2005, replacing previous nomenclature that was perceived negatively by affected individuals. The multitude of mechanisms related to sex determination and sex differentiation—such as genes involved in gonadal development, androgen receptor function and steroid biosynthesis—makes the diagnoses of the XY DSD group complex and challenging. Clinical studies on DSD are often single-centre experiences from regional samples with a limited number of unambiguous diagnoses of participants, and many of the studies lack appropriate comparison groups

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