Disorders of Sexual Development (Endocrine System)

Description

Disorders of Sexual Development (DSDs) are congenital conditions involving atypical development of chromosomal, gonadal, or anatomical sex. They include 46,XX DSD (e.g., congenital adrenal hyperplasia), 46,XY DSD (e.g., androgen insensitivity syndrome), and sex chromosome DSDs (e.g., Turner, Klinefelter syndromes). Presentations vary from ambiguous genitalia to delayed puberty. Diagnosis involves karyotyping, hormone assays, and imaging. Management requires a multidisciplinary approach—endocrinology, urology, psychology—and may include hormone therapy or surgery. Early diagnosis, family counseling, and individualized care are critical for optimal outcomes.