What are Disorders of Sex Development (DSD)?

DSD are congenital conditions where chromosomal, gonadal, or anatomical sex is atypical. The term replaced "intersex" and includes various conditions affecting sex development.

Categories:

46,XX DSD:

• Congenital Adrenal Hyperplasia (CAH): Most common cause; excess androgens virilize female fetus
• Androgen Exposure: Maternal (rare)

46,XY DSD:

• Androgen Insensitivity Syndrome (AIS): Androgen receptor defect; XY individual appears female
• 5-Alpha Reductase Deficiency: Cannot convert testosterone to DHT; ambiguous genitalia
• Gonadal Dysgenesis: Abnormal gonad development

Sex Chromosome DSD:

• 45,X/46,XY (Mixed Gonadal Dysgenesis)
• Ovotesticular DSD: Both ovarian and testicular tissue

Evaluation (Urgent in Newborns):

• Karyotype: Determine chromosomal sex
• Pelvic Ultrasound/MRI: Identify internal structures (uterus, gonads)
• Hormone Tests: 17-OHP (CAH screening), testosterone, DHT, AMH
• Genetic Testing: Identify specific mutations
• Examine for CAH Crisis: Electrolytes (hyponatremia, hyperkalemia in salt-wasting CAH)

Management:

• Multidisciplinary Team: Endocrinology, urology, genetics, psychology, ethics
• Sex Assignment: Based on multiple factors; shared decision-making with family
• Hormone Replacement: As needed
• Surgical Options: Controversial; individualized; often delayed until child can participate in decision
• Psychological Support
• Gonadectomy: If high cancer risk (e.g., intra-abdominal testes in AIS)