ESPE Abstracts

Introduction: Disorders of sex development (DSD) refer to a group of conditions, including Turner syndrome in which an individual's physical sex characteristics do not conform to typical male or female patterns, including a range of differences in chromosomes, hormones and anatomy. Gender-specific problems are usually not prominent, compared to other forms of DSD. Gender dysphoria (GD) is a discomfort between a person’s assigned sex based on physical characteristics and their gender identity.

Case Report: Cases of coexisting DSD and GD are rare. Here, we describe genotype, phenotype and hormonal characteristics of an individual with Turner syndrome mosaicism (45, X0 / 47, XXX karyotype), who received female puberty induction and subsequent male hormone replacement with testosterone due to GD. As is common in people with Turner mosaicism, spontaneous female puberty started and menarche occurred at the age of 12 8/12 years. Subsequently, hypergonadotropic hypogonadism evolved. Hence, hormone replacement therapy with estradiolvalerat and progesterone was started at the age of 13 7/12 years according to standards of care, resulting in Tanner stage PH5, B4. At the age of 15 7/12 years, the person described a strong sense of not belonging to the assigned gender and identified as other than female, as non-binary, at the age of 16 5/12 years. Transgender feelings and coming out followed at age 17. GD was diagnosed by an adolescent psychiatrist based on criteria according to current guidelines. Gender change took place at age of 17 7/12 years, starting with testosterone substitution (1000 mg i.m. /3 months), and scheduled mastectomy two years later.

Conclusion: In rare cases, individuals with Turner syndrome may identify as other than female. Although DSD and GD have different causes, both conditions can cause significant distress with gender identity and require specialized care. This includes promoting an open-minded and respectful environment to support these individuals on their journey towards self-discovery and gender identity.