Approach to the patient: comprehensive multidisciplinary care for adolescents with difference in sex development (DSD).

Abstract

Disorders (or differences) of sex development (DSD) represent a broad spectrum of rare congenital conditions characterized by atypical development of chromosomal sex, gonadal differentiation, or internal and/or external genital anatomy. Although some individuals are identified in early life, a substantial proportion first present during adolescence, frequently with delayed or absent pubertal development, primary amenorrhea, virilization, or questions regarding gender identity or fertility. This sensitive developmental phase is accompanied by increasing autonomy, necessitating a patient-centered approach with transparent communication and shared decision-making. In this paper, we describe our structured, stepwise diagnostic pathway for adolescents presenting with suspected DSD, embedded within a specialized multidisciplinary team including pediatric endocrinology, laboratory medicine, clinical genetics, psychology, radiology, and surgical expertise. Advances in biochemical profiling, imaging techniques, and genetic testing have improved diagnostic accuracy; nonetheless, psychosocial guidance remains essential throughout the process to support understanding, coping, and long-term well-being. To contextualize this approach, we present an illustrative adolescent case highlighting key clinical considerations, communication strategies, and the specific roles of each team member. Through this case-based framework, we aim to provide clinicians with clear and clinically applicable guidance for the coordinated evaluation and management of adolescents with DSD, emphasizing individualized, developmentally appropriate and gender-affirming care.