The purpose of this overview is to increase the awareness of clinicians regarding the genetic causes of nonsyndromic disorders of testicular development, inform genetic counseling of at-risk family members, and review management options. The following are the goals of this overview.
Goal 1: To describe the clinical characteristics of nonsyndromic disorders of testicular development.
Goal 2: To review the genetic causes of nonsyndromic disorders of testicular development and conditions that may be in the differential diagnosis.
Goal 3: To provide an evaluation strategy to identify the genetic cause of nonsyndromic disorders of testicular development (when possible).
Goal 4: To inform genetic risk assessment in family members of a proband.
Goal 5: To inform management regarding sex of rearing, medical/surgical intervention (when appropriate), hormone therapy, and psychosocial aspects of care.
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