Endocrine Abstracts

Background: Differences in sex development (DSD) comprise a heterogeneous group of conditions that require complex, lifelong management. Owing to their multifaceted nature, continuous follow-up and a holistic, multidisciplinary approach are essential. However, data regarding long-term health outcomes beyond childhood remain limited.

Objective: To assess general health status, metabolic outcomes, and therapeutic management in individuals with DSD followed at a tertiary pediatric center.

Methods: Clinical data were retrospectively collected from medical records and included demographic characteristics, medical history, medication records, anthropometric measurements, and laboratory findings.

Results: A total of 109 individuals with DSD (82.6% male) were evaluated over a median follow-up period of 16 years (range 6–35 years). The cohort included 73 patients with 46,XY DSD (66.9%), 15 with 46,XX DSD (13.7%), and 11 with sex chromosome DSD (9.2%). Karyotype data were unavailable for 10 patients (9.2%), including 3 who were referred but did not complete the recommended evaluation and 7 who were not referred for testing. Neuropsychiatric morbidity was identified in 20.2% of patients, acne before age 20 in 18.3%, dyslipidemia in 11%, and osteoporosis in 4.6%. Attention-deficit/hyperactivity disorder was the most prevalent psychiatric diagnosis, followed by anxiety disorders, autism spectrum disorder, developmental delay, depression, and obsessive–compulsive disorder. Chromosomal karyotype was significantly associated with the presence of dyslipidemia. Sixteen patients (14.6%) were lost to follow-up, and five (4.5%) continued hormone replacement therapy under primary care without structured specialist supervision.

Conclusions: DSD constitutes a chronic condition with significant long-term physical and mental health consequences, underscoring the need for lifelong, multidisciplinary care. The early emergence of morbidity reinforces this requirement. The loss of follow-up in approximately one-fifth of patients highlights the critical importance of structured and accessible transition to adult care services. Increased awareness is also needed to ensure completion of karyotyping and etiological evaluation in patients diagnosed in childhood with incomplete diagnostic assessment.