Specialization

Differences of Sex development (DSD), transgender care, puberty, gonads, sex steroids

Focus of research

My research focuses on differences of sex development (DSD) and transgender care for adolescents. Within the field of DSD my interest is gonadal function and pathology. Participation in the international DSD registry (I-DSD) allows collection of data from individuals with rare conditions. For example, we are currently finishing an international study on gonadal outcomes in 17beta-HSD and 5alpha-reductase deficiency. Through collaboration with the Reproductive Biology Laboratory we are also developing a more basic research line to study pathophysiology of the DSD gonad, focusing on germ cell maturation with the aim to translate the acquired knowledge into evidence-based fertility counseling and treatment.

Within the field of transgender care our clinical studies have focused on treatment trajectories, including continuation/discontinuation of endocrine treatment, and on the efficacy and safety of endocrine treatment for adolescents. Reported treatment outcomes include growth/adult height, development of desired sex characteristics (breast development, voice change), safety data such as renal function, liver enzymes and lipids, and changes in bone mineral density. Research is performed in close collaboration with endocrinologists, psychologists, psychiatrists, surgeons and ethicists. In 2021 we started an international multicenter prospective study of endocrine treatment in transgender adolescents which is ongoing.