Title of project

DSD course of life study: a nationwide study of health, socioeconomics and health expenditures from birth and beyond

Abstract

Disorders/differences of sex development (DSD) is the umbrella term for a group of rare congenital conditions affecting sex development and sex differentiation at the gonadal, genital, and/or hormonal level. The phenotypic spectrum is broad, ranging from conditions associated with few phenotypic differences between affected and unaffected individuals to conditions where questions regarding sex of rearing, endocrine deficiencies, gonadal tumor risk, genital surgery, and fertility arise in addition to concerns related to impact on health and life in general. With this project we aim to provide novel insights at the population-based level into various forms of DSD including Turner (45,X) and Klinefelter (47,XXY) syndrome, 47,XXX and 47,XYY syndrome, 45,X/46,XY mosaicism and rarer sex chromosome DSDs like tetra- and pentasomies (e.g. 48,XXYY, 49,XXXXX) as well as conditions where phenotypic females have a male genotype (46,XY female DSD) or phenotypic males have a female genotype (46,XX male DSD). The project also includes males with hypospadias (46,XY DSD) and individuals with congenital adrenal hyperplasia (CAH), which also is encompassed under the DSD umbrella.

Building on prior work, this project will update and expand existing national cohorts of the aforementioned conditions. By using the national Danish registries, which since the 1970’s have collected longitudinal health data and demographic data at the individual level with ability to link data across registries, we will map the epidemiology of DSD by performing detailed examinations of long-term health outcomes, including somatic and psychiatric morbidity and surgical interventions, and provide novel insights into specific disease patterns. We will investigate how hormonal treatment impact these outcomes and shed light on the impact of timing of diagnosis. Furthermore, we will investigate how the different forms of DSD affect schooling, educational achievements, income, relationships, and family building, addressing key concerns for patients and their families. Moreover, to add to the discussion of health expenditures related to these conditions, we will for the first time perform a thorough investigation of associated health costs and how specific treatments and timing of diagnosis impact hereon.

This study will provide novel insight to DSD and contribute significantly to our understanding of the course of life of individuals affected by a DSD. It will play a substantial role in developing clinical care guidelines for persons with DSD and improve health care providers’ ability to plan and develop treatment and follow-up programs to improve individuals’ lives. Very importantly, it will also improve the level of information from the health care providers to the individuals with DSD and their family.