Hormone replacement in disorders of sex development, and long-term effects.

The majority of disorders of sex development (DSD) are caused by alterations in gonadal or adrenal function that affect steroid hormone synthesis or action.

• Gonadal deficiencies result in a need for testosterone or estradiol replacement to achieve pubertal development.
• Continuous life-long replacement with sex hormones is required following gonadal deficiency.
• In cases with adrenal enzyme deficiencies, glucocorticoid and sometimes mineralocorticoid replacement may be required to normalize the hormonal situation.

Long-term health outcomes in DSD are increasingly being reported in relation to different treatment strategies and as a consequence of insufficient or absent treatment.

• Reported long-term outcomes include growth, bone mineral density, cardiovascular and metabolic health, as well as psychosocial wellbeing.
• Both treatment strategies and the consequences of insufficient or absent treatment are being studied.
• Outcomes are reported across multiple organ systems and domains of health.

Transition from pediatric to adult care is identified as a vulnerable period for individuals with DSD.

• The transition period needs to be organized and individually tailored to ensure lifelong treatment and optimized general health.
• The paper emphasizes that this period requires specific attention to continuity of care.

Individuals with DSD should be seen by multidisciplinary teams at all ages.

• Multidisciplinary team involvement is recommended for diagnostic evaluation, treatment, and long-term clinical follow-up.
• This recommendation applies across all age groups, from pediatric to adult care.
• The multidisciplinary approach is presented as applicable to all stages of DSD management.