medizinische genetik 2023; 35(3): 181–187 Alexandra E. Kulle*, Martina Jürgensen, Ulla Döhnert, Lisa Malich, Louise Marshall, Olaf Hiort Contexts of care for people with differences of sex development Diversity is still missing in the laboratory routine https://doi.org/10.1515/medgen-2023-2037 Abstract: The 2006 Chicago consensus statement of man- agement of disorders/difference of sex development (DSD) has achieved advantages in clinical care and diagnosis for patients and families affect by DSD. This article provides a brief overview of contexts of care for physicians, and points out specific challenges in clinical practice that have arisen from the transformations of the sex/gender system in recent years. We focus on the impact of diagnosis and laboratory measurements. Both laboratory measurements and hormonal therapies still depend on the binary system. One problem is the lack of reference intervals for the dif- ferent forms of DSD, which means that diversity is often neglected. In the following, we will give a brief insight into this complex topic. Introduction DSD comprise a heterogenous group of congenital condi- tions affecting chromosomal, gonadal and anatomic sex [1]. They are classified according to chromosomal sex into 46,XY DSD, 46,XX DSD and chromosomal DSD [1]. Each main group encompasses several subgroups oriented towards a specific clinical or molecular diagnosis [2] as shown in figure 1. There is a wide spectrum of overlapping pheno- types and an equally wide spectrum of aetiologies [3, 4]. With an estimated incidence of 2 in 10,000 live births [5], DSD are rare conditions, with some enzyme deficiencies being ultra-rare (e.  g. P450scc deficiency only described in single cases). The conditions themselves do not require immediate medical intervention unless there is concomi- tant adrenal insufficiency or severe malformation. Never- theless, interdisciplinary medical and psychosocial care is needed for establishment of a precise diagnosis, compre- hensive education of patients and relatives, and lifelong ho- listic care and support. This is provided at centres of exper- tise, with multidisciplinary teams following national and international consensus guidelines [1, 6, 7]. In this article, we outline collaborative efforts to improve care for people with DSD and highlight lingering challenges of diagnosis and management in the sociocultural context. Nomenclature and the sociocultural context Diagnostic categories such as DSD do not arise exclusively within medicine, but always in exchange with social prac- tices and cultural discourses. In DSD, this is particularly chal- lenging, as they concern sex development and expression, which are a central feature of a person’s self-understanding and have both social and legal significance. In Western so- cieties, notions and roles of sex, gender and sexuality have changed significantly in recent decades, with implications for the management of DSD. For a long time, societies have been shaped by a binary sex/gender model of male-female, *Corresponding author: Alexandra E. Kulle, Division of Pediatric Endocrinology and Diabetes, Department of children and adolescent medicine I, University Hospital of Schleswig-Holstein, Campus Kiel/ Christian-Albrechts University of Kiel, Kiel, Rosalind-Franklin-Str. 9, 24105 Kiel, Germany, e-mail: alexandra.kulle@uksh.de. https://www.orcid.org/0000-0002-4411-6879 Martina Jürgensen, Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics, University-Hospital of Schleswig-Holstein, Campus Lübeck/University of Lübeck, Lübeck, Germany, e-mail: martina.juergensen@uni-luebeck.de. https://www.orcid.org/0000-0002-9576-397X Ulla Döhnert, Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics, University-Hospital of Schleswig-Holstein, Campus Lübeck/University of Lübeck, Lübeck, Germany, e-mail: u.doehnert@uni-luebeck.de. https://www.orcid.org/0000-0002-1259-2029 Lisa Malich, Institute for the History of Medicine and Science Studies, University of Lübeck, Lübeck, Germany, e-mail: lisa.malich@uni-luebeck.de. https://www.orcid.org/0000-0002-9013-8681 Louise Marshall, Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics, University-Hospital of Schleswig-Holstein, Campus Lübeck/University of Lübeck, Lübeck, Germany, e-mail: FlorenceLouise.Marshall@uksh.de. https://www.orcid.org/0000-0003-2788-0311 Olaf Hiort, Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics, University-Hospital of Schleswig-Holstein, Campus Lübeck/University of Lübeck, Lübeck, Germany, e-mail: olaf.hiort@uksh.de. https://orcid.org/0000-0001-7642-5556 Open Access. © 2023 the author(s), published by De Gruyter. This work is licensed under the Creative Commons Attribution 4.0 International License.